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204 Cards in this Set
- Front
- Back
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Ideopathic scoliosis
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- lateral curvature of the spine >10%
- 10% of curves progress and require intervention - no clear underlying cause |
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infantile scoliosis
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- onset before 3 years
- very rare |
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juvenile scoliosis
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- detected between 3-10 years
- accounts for 12-21% of cases |
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adolescent scoliosis
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-detected age 10 to skeletal maturity
- believed associated with growth spurt - accounts for great majority of cases |
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scoliosis "red flags"
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- severe pain
- left thoracic curve (90% are to right) - abnormal neurologic exam - stiffness |
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spondylolysis
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- overuse injury in adolescents
- hyperextension of the spine - stress fracture of the pars *pain with standing straight leg raise differentiates from muscle strain |
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Spondylolisthesis
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- occurs when one vertebral body slops forward in relation the the vertebral body below
- occurs most fequently between L5 and S1 - Clinical symptoms: pain radiates posterior to knee or below knees, pain worse with standing, spasms in hamstrings > limited straight leg raise |
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Slipped capital femoral epiphysis
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- 15% present with isolated thigh or knee pain
- mean age is 12 in girls, 13.5 in boys - bilateral in 20% - contralateral hip slips later in 30-60% |
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Osgood-Schlatter Disease
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- overuse syndrome
- repetitive contraction of quadriceps, usually occurs in individuals with who had rapid growth spurt - Clinical features: anterior knee pain that increases gradually over time, exacerbated by direct trauma (running, jumping, kneeling), relieved by rest, typically asymmetric - but both knees are involved in 25-50% - Exam: localized tenderness, prominence of tibial tuberocity, soft tissue swelling, pain with extension of knee against resistance, stressing quads, or squatting |
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T-cell Deficiency
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- Intracellular organisms and opportunistic infections
- Bacteria: salmonella, syphilis - mycobacteria: MTB, MAC, MAI - virus: CMV, HSV, VZV, EBV - fungi: candida, aspergillus, cocci, cryptococcus, histoplasmosis - Protozoa: PJP, toxoplasmosis, isosporiasis, microsporidosis |
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B-cell Deficiency
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recurrent sinopulmonary infections
- bacteria: strep pneumo, H flu, staph aureus (no IgG, no IgM) - virus: enterovirus (no IgA) - protozoa: giardia (no IgA, no IgE) |
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Examples of combined B- and T-cell deficiency
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- Severe Combined Immunodeficiency (SCID)
- Wiskott-Aldrich syndrome - Ataxia-telangiectasia - Bloom syndrome -Nijmegen breakage syndrome |
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Severe Combined Immunodeficiency
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- Numerous types, but IL-2Ry defect and ADA deficiency were highlighted
- IL-2Ry defect: x-linked, most common form, T-/B+/NK-, diagnosed with molecular analysis - adenosine deaminase deficiency (ADA), toxic metabolites built up and kill T cells, B cells, and NK cells. Autosomal recessive, diagnosed by low ADA levels in RBCs |
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Wiskott-Aldrich syndrome
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Combined B&T cell deficiency
EXITS pneumonic - Eczema - X-linked - Immunodeficiency - Thrombocytopenia - Small platelets on peripheral smear *WASP gene on Xp11.22 **Rx: BMT, or phophylactic abx and IVIG |
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Ataxia-Telangiectasia
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combined B and T cell deficiency syndrome
- Ataxia ->telangiectasia ->immunodeficiency (not all 3 until later on) - Autosomal recessive - ATM gene (responsible for DNA repair) - high risk of cancer *Dx: ataxia + telangiectasia + elevated alpha-fetoprotein |
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Bloom Syndrome
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combined B and T cell deficiency syndrome
- chronosomal instability disorder (deficiency of DNA ligase I) - autosomal recessive - Clinical: small stature, telangiectasia, CNS abnormalities, immunodeficiency - high association with leukemias |
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Nijemgen Breakage Syndrome
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combined B and T cell deficiency syndrome
- mutation in nijmegen breakage syndrome gene (NBS1) - autosomal recessive - Clinical: "bird-like" face, microcephaly, normal/near normal IQ, immunodeficiency |
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DiGeorge Syndrome
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T cell deficiency
- failure of 3rd and 4th branchial arches to form - Chromosome 22q.11 deletion -presents with immunodeficiency, hypocalcemia, congenital heart disease, facial abnormalities - in complete DiGeorge, pts lack both T and B cell function Cardiac Abnormal facies Thymic hypoplasia Cleft lip/palate Hypocalcemia 22 chromosome |
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X-linked agammaglobulinemia
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- B-cell deficiency, also known as Bruton's agammaglob.
- mutation in Burton tyrosine kinase (BTK), Xq22 - arrest of B cells in Pre-B-cell stage, so no mature B cells or antibodies present - susceptible to encapsulated organisms (strep, H flu, meningococcus, staph) - susceptible to enteroviral infections and giardia - recurrent ear infections, sinusitis, pneumonias *Dx: flow cytometry = no mature B cells, no antibodies present, no antibody function **Treat with IVIG or SQIG |
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Common Variable Immunodeficiency
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- Bimodal distribution: 5-10 and 20-30 yrs
- mature B cells unable to differentiate into plasma cells--> mature B cells present/low antibody levels/poos antibody response - recurrent sinopulmonary infections - sarcoid-like disease with non-caeating granulomas of spleen, liver, and skin - sprue-like illness that can cause diarrhea, malabsorption, steatorrhea, and protein-losing enteropathy - increased risk of autoimmune disease and lymphomas *Dx: flow cytometry = mature B cells present, low antibody levels and poor antibody function (no response to vaccination) ** Tx with IVIG or SQIG |
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X-linked Hyper-IgM syndrome
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B cell deficiency
- inability of B cells to class switch from default IgM to other antibody classes - inability of T cells to interact with macrophages (CD40L defect) - normal or hight levels of IgM, low levels of IgG and IgA - susceptibility to sinopulmonary bacterial infections and pneumocystis jiroveci pneumonia * Dx flow cytometry demonstrating lack of CD40L ** Tx IVIG or SQIG, and TMP/SMX for PJP prophylaxis |
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X-linked lymphoproliferative syndrome
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B-cell deficiency
- overwhelming, near-fatal infections with EBV: fleminant hepatitis, BM failure - progression to lymphoma (EBV triggers polycolonal expansion of B cells - Defect mutation SH2DIA gene |
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Transient hypogammaglovulinemia of infancy
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- diagnosis of exclusion
- normal variant or abnormal prolongation of physiological hpyogammaglobulinemia that occurs between 4 and 6 mo. - usually have normal IgG levels before 4 years - most will still have good antibody responses despite low IgG levels |
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Kostmann syndrome
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- neutropenia
- autosomal recessive mutation in HAX 1 gene |
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Severe chronic neutropenia
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- neutropenia
- autosomal dominant - due to mutation in neutrophil elastase |
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Cyclic neutropenia
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- autosomal dominant
- levels of neutrophils incrase and decrease over time - cycle is usually every 3-6 weeks - duet to mutation in neutrophil elastase |
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Leukocyte adhesion defect type 1
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-defect in CD 18 (adhesion molecule)
- severe leukocytosis - delayed separation of umbilical cord - sterile abscess |
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Leukocyte adhesion defect type 2
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- defect in fucosylation of Sialyl Lewis moiety
- mental retardation - poor growth and abnormal facies - sterile abscess - bombay blood type (no H antigen) |
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Job syndrome
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- aka hyper-IgE syndrome
- phagocyte killing defect - IgE usually elevated, though not required - Recurrent abscesses, eczema, scoliosis, hyperextensibility, delayed eruption of primary teeth, fractures, pneumatoceles - coarse facies: asymmetric face, broad nose, prominent forehead, and triangular jaw |
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Chediak-Higashi
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- phagocyte killing defect: impaired lysosome degranulation
- autosomal recessive - recurrent cutaneous and sinopulmonary infections - partial oculocutaneous albinism - mental retardation, progressive peripheral neuropathy - peripheral smear shows giant granules |
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Chronic granulomatous disease
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- phagocyte killing defect: inability to generate "respiratory burst"
- x-linked (most common) - recurrent organ and skin abscesses of catalase + organisms (staph aureus, serratia marcenscens, burkholderia, aspergillus, chromobacterium, nocardia) - walled-off granuloma formation *dx with dihydrodamin oxidation test with flow cytometry (DHR); used to be nitroblue tetrazolium (NBT) test **Treat with prophylactic antibiotics and interferon-gamma |
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Complement disorders
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- early complement deficiency: pyogenic infections, increased risk of autoimmune disease
- terminal complement deficiency: recurrent bacterial infections, nisseria mengitidis * dx: screen CH50, if CH50 undetectable, check individual complement factors |
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Hereditary angioedema
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- defect in C1 inhibitor function
- autosomal dominant - type 1 - low levels of protein - type 2 - normal levels of protein, but nonfunctional - recurrent episodes of angioedema, abdominal pain, extermity swelling, laryngeal edema, erythema marginatum. NO URTICARIA '* Dx: check D4 level (will be low), then test C1 inhibitor level and function **Tx: attenuated androgens (Danazol), plasma derived C1 esterase inhibitor protein for IV injection |
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Type I reaction
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- immediate hypersensitivity - IgE mediated
- hives, allergic rhinitis, asthma, food allergies, latex allergies - acute phase : minutes to 1 hour; mast cell degranulation - late phase: 3-12 hours later; release of cytokines during acute phase causes infiltration of eosinophils and basophils; can last hours to days |
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Type II reaction
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- cytotoxic: IgM or IgG antibodies bind to fixed tissue antigen or cell receptors and cause target cell destruction
- Fixed tissue antigen examples: basement membrane in goodpastures, Ach receptor in mysthenia gravis - examples of target cell receptors: platelets in thrombocytopenia, RBCs in hemolytic anemia, WBCs in leukopenia |
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Type III reaction
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- immune complex mediated
- think vasculitis! - serum sickness is systemic reaction (large antigen in non-immunized animal) - arthis reaction is local reaction (animal hyperimmunized then given injection of antigen) |
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Type IV reaction
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- T-cell mediated, delayed reaction
- occurs 24-72 hours after exposure - previously sensitized T-cells interact with antigen - examples: contact dermatitis, tuberculin sensitivity |
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Type V reaction
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- Autoimmune stimulatory
- IgG autoantibodies have stimulatory effect on receptor - Example: Graves' disease |
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anaphylactoid reaction
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- clinically indistinguishable from anaphylaxis
- NOT IgE-mediated results from direct mast cell degranulation: C3a, C4a, and C5a - examples: ASA/NSAIDs, radiocontrast, sulfites |
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urticarial vasculitis
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autoimmune disase
- red flags: lesions last > 24 hours in a FIXED location; residual ecchymosis, hyperpigmentation or purpura; hives are non-puritic, tender, and burn; arthritis, fever, fatigue * diagnosed via skin biopsy **Labs may show decreased C3/C4 levels and antibodies to C1q |
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Congenital heart defects in DeGeorge
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- truncus arteriosus
- interrupted aortic arch - pulmonary atresia with VSD - tetralogy of fallot (15% of non-syndromic kids!) |
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congenital heart defect in noonan syndrome
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PS, hypertrophic cardiomyopathy
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congenital heart defect in Williams syndrome
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peripheral ps, supravalvular AS (elastin mutation)
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congenital heart defect in Holt-Oram syndrome
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ASD, VSD
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congenital heart disease in ellis-van Creveld
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ASD
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congenital heart disease in pompe's
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cardiomyopathy
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CHD due to lithium exposure
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ebstein's anomaly of tricuspid valve
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CHD due to ethanol exposure
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ASD, VSD (fetal alcohol syndrome)
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CHD due to anticonvulsant exposure
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Pulmonary stenosis, aortic stenosis, TOF
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CHD due to retinoic acid exposure
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transposition of the great vessels
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CHD due to rubella
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PDA, PPS
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CHD due to coxsackie B
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neonatal myocarditis
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CHD due to maternal diabetes
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hypertrophic cardiomyopathy, transposition of the great vessels
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CHD due to maternal PKU
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VSD, ASH, complex CHD
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VSD exam findings
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- systolic murmur at LLSB
- "thrill" at LLSB is always a VSD - may have loud single S2 if pulmonary HTN is present |
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PDA exam findings
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- bounding pulses
- continuous, machinery murmur at LUSB |
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ASD exam findings
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- palpable RV
- soft SEM LUSB - FIXED SPLIT S2!!! |
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AV canal defect
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- very common in Down syndrome (30%)
- consists of large ASD, VSD, and common AV valve - early development of CHF and pulmonary HTN - Exam: loud S1 and loud, almost single S2, palpable RV; variable systolic regurgitant murmur |
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The 5 T's of cyanotic congenital heart disease
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- tetralogy of fallot
- transposition of the great arteris - tricuspid (and/or pulmonary) atresia - truncus arterosus - total anomalous pulmonary venous return |
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pulmonary atresia
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- very cyanotic when PDA closes
- diminished flow on CXR - ECG shows "normal" axis - little or no murmur |
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tricuspid atresia
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- very cyanotic when PDA closes
- diminished flow on CXR - ECG shows characteristic LVH, Left axis deviation - little or no murmur |
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Tetralogy of fallot
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- exam findings: harsh systolic ejection murmur at LM-USB, single S2, cyanotic baby
- clubbing and squatting in older child - RVH and RAD on ECK - boot shaped heart on CXR - Know about the TET spell - treat with O2, knee chest position, bucarb, morphine, phenylephrine, beta-blocker |
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transposition of the great arteries
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- 2 circulations in parallel
- may improve with PGE1 |
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truncus arteriosus
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- VSD + one large vessel coming off heart - pulmonary arteries branch off this.
- usually mild cyanosis because of normal-to-increased pulmonary flow - exam: "click" and SEM - Treat CHF medically and surgically repair at 6 mos |
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total anomalous pulmonary venous return
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- "unosbtructed" will have increased flow on CXR and minimal cyanosis + snowman on CXR
- If obstructed will see small heart and pulmonary edema on CXR + intense cyanosis; in this case urgent surgery is required |
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CHF in the first week of life?
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LEFT HEART OBSTRUCTION
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CHF at 6-8 weeks of life?
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LEFT TO RIGHT SHUNTS!
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CHF at 6-8 years
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Think acquired heart disease:myocarditis, rheumatic fever, etc
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aortic stenosis
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- CHF at birth if critical
- may present as SEM murmur at RUSB, constant ejection click at abex (after S1), paradoxical split S2, thrill at SS notch - progressive - prohibit from competitive sports if more than mild |
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pulmonic stenosis
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- may be critical (ductal-dependent) in newborn
- SEM at LUSB, thrill at LUSB (if severe), systolic click at LMSB that varies with respiration (unlike aortic which is constant) - rarely progresses after 2 years of age |
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Jones Criteria
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Acute Rheumatic Fever
- Major criteria - polyarthritis - carditis - chorea - subcutaneous nodules (less common) - e. marginatum (less common) - minor criteria - elevated ESR - increased PR interval - fever - arthralgia - prior history of ARF * need 2 major or 1 major + 2 minor AND evidence of strep |
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SBE prophylaxis for dental procedures
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- prosthetic valve
- previous history of endocarditis - unrepaired cyanotic heart disase - repaired CHED with prosthetic material/device for 6 months post procedure - CHD with residual defect (prevents epithelization of graft tissue) - No need for prophylaxis for GU or GI procedures |
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Kawasaki disease symptoms
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- need 5 days of fever + 4 of the following
- cervical LAD - non-exudative conjunctival injection - non-vesicular rash - erythema of the hands/feet - mucosal involvement |
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Kawasaki disease lab findings
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- elevated WBC
- anemia - elevated ESR, CRP - sterile pyuria - elevated LFTs - decreased serum albumin - thrombocytosis |
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Poison identification: fast heart rate
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FAST pneumonic
- Freebase cocaine - Anticholinergics - Sympathomimetics - Theophylline |
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Poison identification: slow heart rate
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PACED pneumonic
- Propranolol - Anticholinesterase drugs - Clonidine - Ethanol - Digoxin |
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Poison identification: miosis
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COPS pneumonic
- Cholinergics, clonidine - Opiates, organophosphates - Phenothiazine, pilocarpine - Sedatives (Barbiturates) |
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Poison identification: Mydriasis
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AAAS pneumonic
- Antihistamine - Antidepressant - Anticholinergics - Sympathomimetics (amphetamine, cocaine, PCP) |
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Poison identification: diaphoretic skin
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SOAP pneumonic
- sympathomimetics - organophosphates - ASA (salicylates) - PCP (phencyclidine) |
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Poison identification: red skin
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- anticholinergics
- carbon monoxide (rare) - boric acid |
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Radiographic pill fragments
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COINS pneumonic
- Choral hydrate, calcium - Opium packets - Iron (and other heavy metals) - Neuroleptic agents - Sustained-release or enteric-coated agents |
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Poison identification: hypoglycemia
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HOBBIES pneumonic
- Oral hypoglycemic agent - Beta-blockers - Insulin, - Ethanol - Salicylate |
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Increased osmolar gap
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- calculated osmoles = (2 x Na) + (BUN / 2.8) + (glucose / 18)
- > 10 gap identifies unknown alcohol ingestions - ME DIE pneumonic methanol ethylene glycol, diuretics isopropyl alcohol, ethanol |
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Increased anion gap
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MUDPILES pneumonic
- methanol - uremia -DKA - Phenols - iron, INH - lactate - ethanol, ethylene glycol - salicylates |
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Activated charcoal is ineffective in:
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CHEMICaL CamP pneumonic
- cyanide - hydrocarbon - ethanol - metals - iron - caustics - lithium - camphor - phosphorus |
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gastric lavage for poisoning is contraindicated in:
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- hydrocarbons
- acids - alkalis - sharp ingestions - altered mental status |
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Acetaminophen overdose symptoms (time line)
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- 0-24 hours: GI irritation with nausea, vomitting
- 24-48 hours: latent period, asymptomatic, RUQ pain, LFTs may increase - 72-96 hours: hepatic failure, peak symptoms, death from hepatic failure or coagulopathy - 4-14 days: recovery or death; symptoms resolve in survivors *remember peak PLASMA levels are at 4 hours post-ingestion, the symptoms are above |
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Anticholinergic examples
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diphenhydramine
atropine OTC antispasmodics mushrooms jimson weed deadly nightshade |
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Clonidine ingestion
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- signs/symptoms similar to opioids
- apnea - bradycardia - hypotension - lethargy - miosis - MAY CAUSE TRANSIENT HYPERTENSION! - Supportive care: intubation, atropine, dopamine, ?naloxone? - resolves within 24 hours of ingestion |
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ibuprofen ingestion
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- >400 mg/kg doses can cause serious toxicity, otherwise serious side-effects are rare
- symptoms include nausea, vomitting, epigastric pain, drowsiness, lethargy, ataxia - treat with activated charcoal and supportive care - monitor forrenal function and acid-base status |
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Iron ingestion
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- corrosive to gastric and intestinal mucosa
- mitochondrial/cell dysfunction - capillary leak -->hypotension - toxic dose of elemental iron: < 20 mg/kg is asymptomatic; 20-60 mg/kg may produce serious toxicity; > 60 will produce serious toxicity |
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Phases of iron toxicity
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IRON = Indigestion, Recovery, Oh my Gosh! and Narrowing
- Phase 1: 30 min -6 hours. nausea, vomiting, diarrhea, abdominal pain; direct damage to GI and intestinal mucosa - phase 2: stability (6-12 hours) symptoms resolve - phase 3: systemic toxicity (12-24 hours), cardiovascular collapse, severe metabolic acidosis (high anion gap) - Phase 4: hepatic toxicity (within 48 hours) - Phase 5: GI/pyloric scarring (seen 2-6 weeks post ingestion) |
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Opiate ingestion
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- symptoms: drowsiness/coma, mood change, decreased GI motility, analgesia, nausea/vomitting, respiratory depression, abdominal pain (increased colonic and biliary tone)
- miosis - respiratory depression - coma - decreased GI motility - hypotension from histamine release - NO CHANGE IN HEART RATE |
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Salicylate ingestion
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- antidiarrheal products, oil of wintergreen
- uncouples oxidative phosphorylation - acute toxic dose is >150mg/kg - nausea/vomitting - tinnitus - hyperventilation (may also cause respiratory alkalosis but not always) - dehydration, hypokalemia, metabolic acidosis - serious toxicity: hyperthermia, agitation, confusion, coma, renal failure - can cause death from pulmonary or cerebral edema, electrolyte imbalance, cardiovascular collapse |
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Salicylate overdose treatment
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- activated charcoal may form beozoar in stomach so consider multiple doses
- gastric lavage if bezoar in stomach?? - aggressive fluid rehydration - replace bicarb and potassium - raise urine pH with IV bicarb (increases excretion) - hemodialysis |
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Tricyclic antidepressant overdose
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- onset of symptoms usually within 2 hours and major complications within 6
- in children CNS side effects more prominent: lethargy, agitation, seizures, coma - tachycardia - hypertension/hypotension - widened QRS and prolonged QT Remember CCCA Coma, Convulsions, Cardiac dysrhythmias (Prolonged QRS most prominent), and Acidosis *alkalinize serum with bicarb (pH 7.45-7.55) to prevent dysrhythmias ** treat dysrhythmias with lidocaine |
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ethanol ingestion
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- CNS depression in younger children
- nausea/vomiting - slurred speech/ataxia - respiratory depression -seizures and coma - hypothermia - INHIBITS GLUCONEOGENESIS LEADING TO HYPOGLYCEMIA IN YOUNG CHILDREN! (10-22% in children <5) |
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ethylene glycol ingestion
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- stage 1 (1-12 hours): nausea, vomiting, drowsiness, slurred speech, lethargy
- Stage 2( 12-36 hours): tachypnea, cyanosis, pulmonary edema, ARDS, death - Stage 3 (2-3 days): cardiac failure, seizure, cerebral edema; RENAL FAILIURE * urine may fluroesce under woods lamp |
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Organophosphate toxidrome
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DUMBELS pneumonic
- diarrhea - urination - miosis - bronchorrhea/bronchospasm - emesis - lacrimation - salivation Other side effects include: - nicotinic effects (twitching, weakness, respiratory weakness) - confusion - coma - convulsions - slurred speech |
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organophosphate treatment
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- atropine: may need large doses, repeat until effective
- pralidoxime (2-PAM): only effective before bond ages (2-3 days post-exposure); use with atropine - benzodiazepines for CNS symptoms *symptoms may persist for weeks without treatment |
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Burns: things to remember
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- Parkland formula: 4mLs/kg/%BSA first 24 hours
- IVF for burns >15% BSA - uses lactated ringers - 1/2 volume in first 8 hours, rest in next 16 - over age 9: use rule of 9's - head + neck =9% - each upper limb = 9% - thorax and abdomen front = 18% - thorax and abdomen back = 18% - perineum = 1% - each lower limb = 18% Use rule of palm for children under 9 ( palm = 0.8-1% BSA) |
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Cushing's triad
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Impending herniation
- bradycardia - irregular respirations - hypertension |
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Salter-Harris classification
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SALTR pneumonic
- I separated - II Above (metaphysis) - III lower (epiphysis) - IV together (metaphysis and epiphysis) - V rammed (compressed growth plate) |
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Thiamin deficiency
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- vitamin B1
- beriberi: parasthesias, foot and wrist drop - wernicke encephalopathy: opthalmoplegia, ataxia, confusion |
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riboflavin deficiency
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- vitamin B2
- cheilosis, sore tongue |
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niacin deficiency
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- vitamin B3
- pellagra: dermatitis, dementia, diarrhea |
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pyridoxine deficiency
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- vitamin B6
- defect leading to seizures |
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cobalamin deficiency
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- vitamin B12
- megaloblastic anemia |
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folate deficiency
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- megaloblastic anemia
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vitamin C deficiency
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- scurvy
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vitamin A
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- deficiency: night blindness, immune dysfunction
- excess: scaly skin, pseudotumor cerebri, hepatomegaly |
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vegetarian diet lacks:
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- vitamin B12
- iron - calcium - zinc |
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Shwachman-Diamond
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- #2 cause of pancreatic insufficiency after CF
- autosomal recessive - skeletal abnormalities - neutropenia |
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Johanson-Blizzard
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- pancreatic insufficiency
- nostril hypoplasia/agenesis - cardiac abnormalities - deafness - hypothyroid - GU defects - developmental delay |
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Chronic pancreatitis
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- usually hereditary pancreatitis
- autosomal dominant with incomplete penetrance - family history of pancreatitis (80% present before age 20) - defects in enzyme itself, anti-trypsin proteins, and unique CFTR mutations - after repeated bouts develop insufficiency and diabeties |
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congenital liver anomalies
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- situs inversus (left) and heterotaxia (center) are rare, associated with other anomalies, liver functions normally
- portal vein anomalies associated with cardiac and urinary anomalies |
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Congenital hepatic fibrosis
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- associated with autosomal recessive PKD
- diagnosis depends on which shows up first - ductal plate abnormality - fibrosis leads to portal hypertension - present with life-threatening bleeding from varices at 5-13 yrs of age - liver function is normal or mildly elevated - if severe consider transplantation |
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Caroli disease
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- ductal plate disease, autosomal recessive
- dilation of intraphepatic bild ducts - present with cholangitis - treat with antibiotics - with congenital hepatic fibrosis is known as Caroli syndrome |
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Alagille syndrome (arteriohepatic dysplasia)
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- autosomal dominant
- mutation in Jag 1 homeobox gene which encodes for a ligand for the NOTCH receptor - characteristic triangular facies - paucity of bile ducts - neonatal cholestasis - do not perform Kasi, cholestasis improves in most with age - peripheral pulmonary stenosis, occasionally Tet of fallot - butterfly vertebrae, abnormal radius/ulna - posterior embryotoxon in eyes |
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Hepatitis B
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- DNA virus
- incubation is 1-6 months - prodrome first - constitutional symptoms, fever, arthritis, urticaria, angioedema - resolves then jaundice - Hep B IG effective prophylaxis early in infection - relationship between age and chronic infection: infants 90%, 1-5 yrs 25-50%, >5 yrs 5% |
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Hepatitis C
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- RNA virus
- #1 cause of liver disease and transplantation (including adults) - 70-80% become chronic hepatitis - 25% develop end-stage cirrhosis after 20-25 years and are then at risk for hepatoma |
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Hepatitis D
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- RNA virus
- requires coexistent hep B infection - no worse if occurs with hep B - superinfection after hep B is very severe - immunity to hep B indicates immunity to hep D |
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Hepatitis E
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- RNA virus, spread by fecal/oral
- Far East, africa, and Central America - 20% fatality fate from fulminant hepatitis in third trimester of pregnancy |
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Hepatitis A
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- RNA virus, fecal-oral transmission
- incubation 15-50 days - diagnosed by anti-HAV IgM - IgG prophylaxis for household contacts, daycare, nursing home. - no prophylaxis needed for hospital, school, workplace, or day-to-day contact |
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Epstein-Barr virus
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- DNA virus, spread by infected secretions
- usually affects the liver - hepatosplenomegaly - mild-to-moderate enzyme elevations and jaundice - diagnosed with elevated IgM antibody titer - immunocompromised at risk of lymphoproliferative disease |
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cytomegalovirus
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- usually very mild with no jaundice, mild enzyme elevations
- severe in neonates - see typical inclusions in biopsies |
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Crigler-Najjar syndrome type I
|
- more severe
- complete absence of UDP-GT - DNA testing - NO conjugated bilirubin - lifetime phototherapy/liver transplantation |
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Crigler-Najjar syndrome type II
|
- partial activity of UDP-GT
- bilirubin is usually < 10 mg/dL - does not require specific therapy |
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Dubin-Johnson syndrome
|
- defect in cMOAT/MRP2 gene for conjugated bilirubin transporter
- mild conjugated hyperbilirubinemia (3-8 mg/dL) - no hepatocyte injury |
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Reye syndrome
|
- acute liver disease with hyperammonemic encephalopathy
- disordered clotting, elevated PT - aspirin use with a viral infection - believed to be mitochondrial difficulty - mimicked by metabolic disorders |
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Alpha-1 antitrypsin deficiency
|
- 1/2,000 births
- 10-15% of infants have jaundice, 50% have elevated liver enzymes - measure alpha-1 levels and phenotype - some do well, some progress to liver faliure - emphysema in young adults |
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Wilson disease
|
- 1/100,000 to 1/500,000 births
- disease of copper accumulation in adolescence - gene on chromosome 13 - liver, kidney, brain, and eyes effected - acute or chronic liver disease, neurologic, symptoms, acute hemolysis, psychiatric illness, behavioral change, Fanconi syndrome, or unexplained bone disease - ceruloplasmin to SCREEN (family members of patients) - serum copper of 24-hour urinary copper - Gold standard is liver biopsy * treatment - chelation (penicillamine), low copper diet and zinc supplements |
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Hemochromotosis
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1) herediatry - mutation in HFE gene, adult disease
2) neonatal - acquired due to severe liver damage before delivery; mortality is >90%; present with cholestatic jaundice, coagulopathy, and/or ascites at birth 3) transfusion-induced |
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Progressive Familial Intrahepatic Cholestasis (PFIC)
|
- bile transport protein defects
- PFIC 1 (byler disease) - presents 3-6 months; conjugated hyperbilirubinemia; SEVERE unremitting puritis, GGT is NORMAL; FIC1 gene on chromosome 18 - PFIC 2 - SPGP gene on chromosome 2, no pancreatitis or diarrhea; prominent liver disease, normal GGT - PFIC 3 - cholestasis, elevated GGT, jaundice is usually less prominent but the pruitis is still severe |
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Drug induced hepatotoxicity
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- acetaminophen (dose dependent)
- phenytoin, sulfasalazine, and halothane - antibiotics like erythromycin and bactrim - androgens used by adolescent athletes - oral contraceptives are associated with hepatic vein thrombosis (budd-chiari) and liver tumors |
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autoimmune hepatitis
|
- type I - classic, anti-smooth muscle and or antinuclear antibodies positive
- Type II - liver-kidney microsomal-1 antibody - Type III - adults primarily, anti-soluble liver antigen * all have elevated aminotransferases, hypergammagolobulinemia, family history of autoimmune disease - treated with corticosteroids, azathioprine, cyclosporine, and tacrolimus |
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Primary sclerosing colangitis
|
- assume autoimmune
- chronic inflammation leading to fibrosis of the bile ducts - associated with IBD, usually UC - diagnosed by cholangiography - usually ERCP - no direct therapy; choleretic agents, vitamins, liver transplantation |
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Neonatal hepatitis
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- idiopathic, other causes eliminated
- pathology shows multi-nucleated giant cells, elevated enzymes, usually normal GGT, elevated bilirubin (appear up to 3 months) - most resolve spontaneously by 8 mos of age |
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aagenaes syndrome
|
- autosomal recessive disease that presents in NORWEGIAN newborns
- severe choestasis with lower extremity lymphedema |
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Biliary atresia
|
- #1 reason for PEDIATRIC liver transplantation
- develop jaundice towards 1 month of life, clay-colored stools, dark urine - liver enzymes and GGT are elevated - no gallbladder on US, no secretion on radionuclide scan - DEFINITIVE TEST is intraoperative cholangiogram |
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Gallbladder hydrops
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- associated with kawasaki, streptococcal pharyngitis, prolonged fasting, TPN, HSP
- reverts when disease is over |
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Liver tumors
|
- rare
- usually in right lobe and benign (hemangiomas, adenomas, hamartomas, focal nodular hyperplasia) - hepatoblastoma - most common malignancy, found in infants, extremely elevated alpha-fetoprotein, transplantation if cannot totally remove |
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normal weight gain pearls
|
- birth weight regained 2 weeks
- max wt loss in 1st 2 wks - 10% - weight doubles in 4 mos - triples at 12 mos - quadruples at 24 months |
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normal height gain pearls
|
- gain 50% in 1st year
- doubles by 4 yrs - triples by 13 yrs |
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Legg-Calve-Perthes disease
|
- ideopathic osteonecrosis of femoral head
- usually age 4-8, but range from 2-12 - unilateral in 90%, more common in males - limping for 3-6 weeks, activity worsens limp, aching in groin or proximal thigh |
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Trisomy 18
|
- edwards syndrome (have to be 18 to vote for John Edwards)
- 1/8,000 LIVE births - usually fatal in first year of life - mental retardation, FTT, hypertonia, severe congenital heart defects - prominent occiput - low-set ears - short sternum - overlapping fingers - rocker-bottom feet - 95% spontaneously lost prior to delivery - caused by non-disjunction in meiosis |
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Trisomy 13
|
Patau syndrome
- 1/25,000 LIVE births - microphthalmia - cleft lip/palate - cutis aplasia of scalp - growth retardation - polydactyly - congenital heart disease - urogenital abnormalities - CNS abnormalities (holoprosencephaly) - ~20% due to unbalanced translocations |
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Turner syndrome
|
- 45, X
- mosaicism common - high rate of fetal loss - nuchal webbing - pedal edema - coarctation of aorta - short stature - infertile (gonadal dysplasia) - not related to maternal age - typically develop virilization (clitoromegaly), and will have pubic hair development with no breast development/mensturation |
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- Kleinfelter syndrome
|
- 47 XXY
- tall stature - small testes, infertile - gynecomastia - learning and behavioral problems - can have more than 2 X chromosomes; increased copies of X = increased neurological problems |
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Cri-du-chat
|
5p autosomal deletion syndrome
- deletion of short arm of chromosome 6 with critical region of 5p15 - most sporadic, but 10-15% due to parental translocations - clinical features: microcephaly, high palate, hyperteloric, epicanthal folds, low broad nose, abnormal cry |
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Wolf Hirschhorn syndrome
|
4p autosomal deletion syndrome
- severe growth retardation - mental defect - microcephaly - Greek Helmet facies - closure defects (cleft lip or palate, coloboma of the eye, and cardiac septal defects |
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WAGR (Wilms Tumor-Aniridia-Genitourinary anomalies- Mental retardation syndrome)
|
- autosomal dominant, soatic mutation
- causes: wilms tumor, aniridia, hypospadias or cryptorchidism, MR |
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Marfan syndrome
|
- autosomal dominant FBN1 gene mutation on chromosome 15q21.2
- defective fibrillin mutation - features overlap with homocystinuria which is autosomal recessive - typical physical features, myopia, dislocated lenses, aoritic dilation and dissections, mitral valve prolapse (holosytolic at apex with radiation to left axilla |
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Alagille syndrome
|
- autosomal dominant JAG1 and NOTCH2 genes
- paucity of bile ducts - peripheral pulmonic stenosis - posterior embryotoxon (prominent schwalbe's line) - butterfly vertebrae - facial features: prominent forehead, deep set eyes and hypertelorism, pointed chin, bulbous tip of nose |
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Achondroplasia
|
- autosomal dominant
- most common dwarfing condition - 100% penetrant - FGFR3 mutation with high new mutation rate (80%) - homozygous individuals is perinatal lethal |
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CHARGE syndrome
|
- autosomal dominant CHD7 gene, generally sporadic
- Coloboma/CNS disease - Heart defects - choanal ATRESIA/ stenosis - Retardation of growth/mental - Genital/uninary anomalies - Ear anomalies or deafness |
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Osteogenesis imperfecta
|
- autosomal dominant
- disorder of type 1 collagen - 4 main types ranging from mild to lethal |
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|
Duchenne muscular dystrophy
|
- X-linked
- progressive muscular dystrophy - onset early childhood - 1/3 cognitive delays - cardiomyopathy |
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Incontinentia Pigmenti
|
- x-linked
- mostly females affected; males tend to miscarry - blisters in linear streaks that then scab - 40-60% have nail dysplasia - 33% have ocular changes - cataracts, microphthalmia - 65-90% have teeth/jaw problems - delayed eruption of teeth, hypodontia, microdontia, abnormally shaped teeth - 10-40% have CNS changes |
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G6PD
|
- X- liked recessive
- females need 2 defective copies to have symptoms - confers resistance to malaria |
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Rett syndrome
|
- X-linked dominant
- some males found - develop normally then drop off - microcephaly, hand-wringing, seizures, breath-holding and air swallowing, autistic features |
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|
alport syndrome
|
- X-linked
- women have milder disease in X-linked form - disorder of basal membrane collagen - 3 major findings: kidney failure, deafness, abnormal eye exam - rare AD and AR forms as well |
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|
Aicardi syndrome
|
- X-linked dominant disorder with lethality in males
- no known gene - triad of features: agensis of corpus callosum, chorioretinal lacunae, infantile spasms - other features: microcephaly, axial hypotonia, moderate-to-severe MR |
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Angelman
|
- genomic imprinting, loss of maternal chromosome 15q11-13
- severe mental retardation with microcephaly - ataxic gait with jerky arm mvmt - seizures, EEG abnormalities - bouts of inappropriate laughter - craniofacial: microbracycephaly, maxillary hypoplasia, deep-set eyes, large mouth, prognathism, blond hair (65%), blue eyes (88%) |
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Prader-Willi syndrome
|
- genomic imprinting, loss of paternal chromosome 15q11-13
- hypotonia - FTT as infant - obesity as child - small hands & feet - hypogonadism - short staure - mild-to-moderate learning problems |
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|
Beckwith-Wiedemann syndrome
|
- Imprinting vs AD inheritance
- macroglossia - ear-lobe creases or pits - macrosomia (large size) - hemihypertrophy - omphalocele - risk for embryonal tumors: wilms, hepatoblastoma - hypoglycemia |
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Fragile X syndrome
|
- tri-nucleotide repeat of CGG in FMR1 gene; X- linked
- most common inherited form of MR (1/2,000 live male births) - 6% of males with MR - ~30% of female carriers have findings - MR +/- autistic features - large ears - generalized overgrowth (tall stature, large hands/feet, head) - macro-orchidism |
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multifactorial inheritance
|
- congenital: cleft lip/palate, neural tube defects, congenital heart defects, pyloric stenosis, congenital hip dislocation
- Adult: DM, HTN, psychiatric disorders - risk to sibs is 2-5% (cleft lip ranges from 4-9%, and hypospadius is 10%) |
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Fetal alcohol syndrome
|
- microcephaly
- smooth philtrum - short palpebral fissures - growth deficiency - internal anomalies - developmental delay/behavioral problems |
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|
fetal dilantin syndrome
|
- microcephaly, IUGR
- heart defects - cleft lip, short upturned nose, long upper lip, depressed nasal bridge - nail hypoplasia and hypoplasia of distal phalanges |
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|
Fetal varicella syndrome
|
- less than 20 wks gestation carries highest risk
- limb hypoplasia - eye damage - developmental delay - scarring |
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|
Cornelia De Lange
|
- autosomal dominant (most new mutation)
- poor growth - IUGR - limb abnormalities - craniofacial features: synophrys, short nose with anteverted nares, long eyelashes, microcephaly, long philturm - mild to profound MR - reflux is common - congenital heart defects |
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|
Russell-silver
|
- sporadic: ~10% uniparental disomy chromosome 7
- small HT and WT with NORMAL head circumference - triangular face - hemihypertrophy - cafe-au-lait spots - delayed bone age - reflux is major issue |
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|
noonan syndrome
|
- autosomal dominant (often new mutation)
- short stature - characteristic facial features: hypertelorism, low-set ears, down-slanting palpebral fissures - lymphedema prenatally - webbed neck - cryptorchidism - pulmonary valve dysplasia (male Turner syndrome) |
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Williams syndrome
|
- chromosome 7q11 micodeletion
- short stature (have own growth charts) - characteristic facial features: short nose, puffy eyelids, stellate irides, full mouth - mental retardation - loquacious, "cocktail party" personality - SUPRAVALVULAR AORTIC STENOSIS!!! |
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|
Ataxia telangiectasia
|
- autosomal recessive
- early-onset progressive cerebellar ataxia - telengiectasia - immunodeficiency - chromosomal instability - hypersensitivity to ionizing radiation - increased incidence of malignancies (primarily lymphoid) - elevated alpha-fetoprotein levels - generally dye by 20s |
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|
Bloom syndrome
|
- autosomal recessive
- BLM gene - abnormal DNA helicase activity (needed for maintenance of genomics stability, increased sister chromatid exchanges) - poor growth, FTT (prenatal onset) - telangiectatic erythema in malar distribution - "birdlike" facies - primary hypogonadism |
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|
Fanconi anemia
|
- autosomal recessive, 13 genes impilcated
- increased chromosome breakage - most common cause of bone marrow failure - 75% with some kind of dysmorphology: hyperpigmentation, abnormal thumbs/radial defects, short stature, hypogonadism, microcephaly, renal anomalies, developmental delay |
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|
Blackfan-diamond
|
- autosomal dominant
- ribosomal protein S19 in 25%, but 2 other genes also implicated - congenital erythroid aplasia - anemia - thumb anomalies - growth anomalies - heart failure - craniofacial anomalies (clefts) |
|
|
TAR syndrome
|
Thrombocytopenia absent radius syndrome
- autosomal recessive - no gene found - hemorrhage is major medical problem (intercranial most problematic, risk reduced after age 2) - upper extremities anomalies: radial ray absence to phocomelia, always have thumbs of some form - 46% have some form of lower extremity anomaly |
|
|
Bruton agammaglobulinemia
|
- x-linked (BTK gene)
- important for pre-B cell maturation: no plasma cells, no antibodies made - recurrent infections with encapuslated bacteria, don't respond to antibiotics, sinopulmonary infections - eczema - can also have other skin problems: vitiligo, alopecia |
|
|
Chronic granulomatous disease
|
- multiple forms/inheritance: 2/3 x-linked, 1/3 autosomal recessive
- phagocytes unable to make O2 burst - recurrent life-threatening bacterial and fungal infections - nitroblue tetrazolium (NBT) test |
|
|
X-linked SCID
|
- X-linked recessive IL2RG gene
- severe combined immunodeficiency : lack of T and NK lymphocytes and non-functional B lymphocytes - diarrhea - cough and congestion - fevers - pneumonia - sepsis |
|
|
Ehlers-danlos
|
majority are autosomal dominant, few are AR
- multiple genes - loose joints - fragile, small blood vessels - abnormal scar formation an wound healing - soft, velvety, stretchy skin - easy bruising |
|
|
Cleidocranial dysostosis
|
- autosomal dominant - RUNX2 gene
- abnormal skull bones- delayed closure of AF - absent/hypoplastic clavicles - teeth anomalies (late or absent) - short stature |
|
|
VATER/VACTERL
|
- normal karyotype, if associated with hydrocephalus then AD inheritance
- vertebral anomalies - anal atresia - cardiac anomalies - TE fistulas - esophageal atresia - renal anomalies, radial dysplasia - limb anomalies - CLINICAL DIAGNOSIS |
|
|
kippel-feil
|
- defect in formation of segmentation of cervical vertebrae (most commonly C2 & C3)
- spectrum of deformity - fusion of 2 vertebrae to entire spine - short neck - low hairline - decreased cervical motion - fewer than 50% have all 3 signs |
|
|
Pierre-Robin
|
- Sequence, often seen with stickler syndrome (AD) with associated hearing loss and retinal dislocation
- small chin - cleft palate from tongue displacement (glosoptosis) - most severe form will require trach |
|
|
Potter sequence
|
- features secondary to oligohydramnios secondary to renal anomalies - classically secondary to renal agenesis
- flattened nose, recessed chin, prominent epicanthal folds, low-set abnormal ears - pulmonary hypoplasia |
|
|
Pena-shokeir
|
- fetal akinesia syndrome
- autosomal recessive (RAPSN gene) - IUGR - arthrogryposis - pulmonary hypoplasia - expressionless face - neurogenic muscle atrophy - CNS anomalies - polyhydramnios |
|
|
prune belly syndrome
|
- uncertain etiology
- deficient abdominal musculature - cryptorchidism - urinary tract abnormalities - maybe associated with other anomalies - more common in males |
|
|
McCune-Albright
|
- gain of function: somatic moaicism, GNAS1 gene
- polyostotic fibrous dysplasia - cafe-au-lait spots - autonomous endocrine hyperfunction (precocious puberty most common feature in females, adrenal adenomas, hyperthyroid) |
|
|
pseudohypoparathyroidism
|
Albright hereditary osteodystrophy type 1a
- autosomal dominant - imprinting defect on GNAS1 gene - resistance to parathyroid hormone - 3 forms 1a, 1b, and 1c (others have elevated PTH, low Ca, and elevated phos) - features: short stature, obesity, abnormal teeth, short metacarpals |
|
|
hypophosphatasia
|
- autosomal recessive, ALPL gene
- defects in bone mineralization (abnml protein production) - various onset: congenital (perinatal lethal) to adult onset - features: rickets or fractures, bone changes, FTT, premature loss of teeth, craniosynostosis - labs: low alk phos, high/normal calcium and normal phos, vitamin D and PTH normal |
|
|
Familial hypophosphatemic rickets
|
2 forms: autosomal dominant, X-linked
- labs: low/normal Ca, high alk phos, low phos - clinical features: frontal bossing, short stature, bowing limbs |
|
|
Polycystic kidney AD
|
- most common (90%)
- MKD1 and BKD2 genes - associated with: liver cysts, pancreatic cysts, aneurysms, diverticulosis |
|
|
Polycystic kidney AR
|
- prenatal/infantile onset (PKHD1 gene)
- renal failure and complications - may have pulmonary hypoplasia |
|
|
nephrogenic DI
|
- X-linked, AR, and AD forms
- AVPR2 gene - x-linked - AQP2 gene - AD and AR - features: polyuria, polydipsia, FTT |
|
|
Long QT syndrome
|
- autosomal dominant, multiple genes
- susceptible to arrhythmias, sudden death |
|
|
kartagener syndrome
|
- autosomal recessive, multiple genes
- primary ciliary dyskinesis and situs inversus - features: recurrent respiratory infections, bronchiectasis, infertility, dextrocardia |
|
|
Sturge Webber
|
- isolated cases. No known genetics
- hemangioma in trigeminal nerve distributoin - macrocephaly - angioma of meningies - can develop glaucoma |
|
|
ectodermal dysplasia
|
AMY's DAUGHTER
- X-linked, AR, and AD forms - multiple genes - more than 190 disorders described based on clinical features - abnormal hair, teeth, nails, and abnormal ability to sweat |
|
|
tuberous sclerosis
|
- autosomal dominant
- 2 genes TSC1 and TSC2 on chromosomes 9 and 16 - marked variability within families - ask-leaf or hypopigmented macules - shagreen patch - facial angiomas - ungual and gingival fibromas - seizures or infantile spasms - CARDIAC RHABDOMYOMAS - renal tumors |
|
|
Neurofibromatosis 1
|
- autosomal dominant - 50% new mutation
- mutations in NF1 gene (tumor suppressor gene involved in control of mitosis and cell division - common - 1/3,000 - cafe-au-lait macules - axiallary/inguinal freckling - neurofibromas (plexiform, dermal) - lisch nodules - optic gliomas - skeletal abnormalities - learning disabilities, ADH |
