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118 Cards in this Set
- Front
- Back
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severe MR, rocker bottom feet, low ears, prominent occiput
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edwards syndrome (trisomy 18)
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MR, microphthalmia, microcephaly, cleft lip/palate, poydactyly
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patau's syndrome (trisomy 13)
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defect in PKU
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decreased phenylaline hydroxylase or decreased tetrahydrobiopterin cofactor
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treatment for PKU
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decreased phenylalanine and increased tyrosine in diet
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finding in fabry's disease
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renal failure
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defect in fabry's disease
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alpha-galactosidase A, which leads to accumulation of ceramide trihexoside
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deficiency in gaucher's disease
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beta glucocerebrosidase
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crinkled paper enlarged cytoplasm
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gaucher's
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deficiency in niemann-pick disease
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sphingomyelinase
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cherry red spot on macula
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tay sachs
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defect in tay sachs
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absence of hexosaminidase A, which leads to GM2 ganglioside accumulation
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deficiency in metachromatic leukodystrophy
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arylsulfatase a, which leads to accumulation of sulfatide in brain, kidney, liver, and peripheral nerves
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corneal clouding and MR
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hurler's syndrome
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deficiency in hurler's
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alpha-L-iduronidase
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how is hunter's different from hurler's
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milder; no corneal clouding
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deficiency in hunters
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iduronate sulfatase
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sausage-shaped RUQ mass
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intussusception
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abdominal pain, vomiting, and blood per rectum
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intussusception
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acid base disturbance in pyloric stenosis
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hypochloremic, hypokalemic metabolic alkalosis
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B cell deficiency in boys
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x-linked agammaglobulinemia (bruton's)
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infections common in bruton's
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pseudomonas
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treatment for bruton's
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prophylactic abx and IVIG
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disease in which Ig drops in 20s and 30s
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common variable immunodeficiency
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Rx for common variable immunodeficiency
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IVIG
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increased risk of what with common variable immunodeficiency
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lymphom and AI disease
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most common immunodeficiency
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IgA
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oculocutaneous telangiectasias and progressive cerebellar ataxia caused by DNA repair defect
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ataxia telangiectasia
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frequent bacterial infections, chronic candidiasis, opportunistic organisms
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severe combined immunodeficiency
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eczema, increased IgE/IgA, decreased IgM, and thrombocytopenia
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wiskott-aldrich syndrome
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bleeding, eczema, recurrent otitis media
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wiskott-aldrich syndrome
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deficient superoxide production by PMNs and macrophages
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CGD
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Rx for CGD
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daily TMP-SMX
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diagnostic test for CGD
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nitroblue tetrazolium test
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chronic pulmonary, GI, UTI,; osteomyelitis with catalase + organisms
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CGD
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oculocutaneous albinism, neuropathy, and neutropenia
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chediak-higashi syndrome
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increased incidince of overwhelming infections with strep pyogenes, s. aureus, and pseudomonas
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chediak-higashi
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recurrent episodes of angioedema lasting 2-72 hours provoked by stress or trauma
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C1 esterase deficiency (hereditary angioneurotic edema)
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what do you check in suspected C1 esterase deficiency?
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total hemolytic complement (CH50)
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treatment for C1 esterase deficiency
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danazol
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recurrent meningococcal or gonococcal infections
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total complement deficency
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factors deficient in total complement deficiency
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C5-C9
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treatment for kawasaki
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high-dose aspirin and IVIG
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most common pathogen in croup
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parainfluenza type 1
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barking cough especially at night
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croup
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treatment for mild/moderate/severe cases of croup
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cool mist therapy/ corticosteroids/ nebulized racemic epinephrine
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common causes of epiglottitis
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strep, nontypable h flu
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steeple sign on x ray
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croup - subglottic narrowing of airway
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thumbprint sign on lateral film
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epiglottitis
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subglottic narrowing on xray
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tracheitis
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acute-onset high fever, dysphagia, drooling, muffled voice, inspiratory retractions, soft stridor
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epiglottitis
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kid with hyperextended neck and leaning forward in tripod position
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epiglottitis
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most common causes of otitis media
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strep pneumo, h flu, moraxella catarrhalis
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requirements for dx of otitis media
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erythema, bulging, and decreased mobility of tympanic membrane
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what worsens erythema infectiosum
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sun and fever
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virus that causes roseola infantum
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HHV-6
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acute onset of high fever, then 3-4 days later maculopapular rash appears as fever breaks, trunk then face/ext
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roseola infantum (HHV-6)
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herniation of intestine through abdominal wall next to umbilicus with no sac
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gastroschisis
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treatment of gastroschisis
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surgical emergency - usually requires multiple stage closure
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herniation fo abdominal viscera through the absominal wall at umbilicus into a sac covered by peritoneum and amniotic membrane
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omphalocele
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treatment for omphalocele
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c-section can prevent sac rupture; if sac is intact, postpone surgery until pt is resuscitated
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bilious emesis after first feeding
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duodenal atresia
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double bubble sign
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air bubbles in stomac and duodenum seen in duodenal attresia
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most common congenital GI tract anomaly
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meckel's diverticulum
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how does meckel's scan work?
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uses IV technetium pertechnetate, which is preferentially taken up by gastric mucosa
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most common cause of meningitis in newborns
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GBS
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most common cause of meningitis in 1 month - 2 year olds
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strep pneumo
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most common cause of meningitis in 2-18 year olds
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neisseria meningitidis
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most common cause of meningitis in >18 year olds
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strep pneumo
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vitamin used to treat measles
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A
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umbilical stump infection, poor suckling, fatigue, rigidity and spasms
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neonatal tetanus
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findings on light microscopy in minimal change disease
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normal
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diagnosis of pyloric stenosis
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abdominal ultrasound
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first step in acute alkali ingestion
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upper GI endoscopy
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most common cause of congenital hypothyroidism
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thyroid dysgenesis
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recurrent bacterial infections, delayed separation of umbilical cord, necrotic periodontal infection
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leukocyte adhesion defect
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adolescent female with hirsutism/virilization with normal menstruation and increased 17 hydroxyprogesterone
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congenital adrenal hyperplasia
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sequelae of bacterial meningitis
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decreased hearing, decreased cognitive funcitons, seizures, MR, spasticity/paresis
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howell-jolly bodies
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splenectomy
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Rx for impetigo
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topical mupirocin or oral erythromycin
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treatment for metatarsus adductus
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reassurance
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treatment for JRA
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NASAIDs and check LFTs
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how is sturge weber inherited
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sporadic
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port wine stains, cerebral lesions - nevi involving leptomeninges
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sturge weber
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sensorineural deafness, heart malformations, cataracts
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congenital rubella
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GI problem associated with HSP
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intussusception
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when does celiac disease typically present?
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12-15 months
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prophylactic measure for pt with 46 XY turners
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bilateral gonadectomy
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meningitis with WBC <250, protein <150, normal glucose
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viral
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percent HbS in sickle cell trait
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35-40%
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harsh, holosystolic murmur at LLSB
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VSD
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how much do babies need to weigh to receive Hep B vaccine?
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2 kg
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meningitis and petechial rash
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meningococcus
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treatment for transient synovitis
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bed rest
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synovial fluid with WBC count >100K
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septic arthritis
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treatment for septic arthritis
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surgical drainage, then IV abx
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infant with tremors, increased wakefulness, loose stools, high-pitched cry, fist sucking, poor feeding, tachypnea in first 48 hrs
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heroin withdrawal
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when does methadone withdrawal in infant occur
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2-6 weeks
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irritability, hiccups, mouthing in first wk of life
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phenobarb withdrawal
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treatment for infantile spasms
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ACTH
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what part of CNS is involved in GBS
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peripheral nerves
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blue sclera
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osteogenesis imperfecta
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what is impaired in osteogenesis imperfecta?
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type I collagen
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gene involved in marfan's
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fibrillin 1
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trinucleotide repeat in fragile X
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CGG
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structure injured in supracondylar fracture
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brachial artery
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kidney findings in HSP
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IgA deposition
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when does gonococcal conjunctivitis appear in infants
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days 2-5
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another name for measles
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rubeola
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infant with FTT, bilateral cataracts, jaundice, hypoglycemia
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galactosemia
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defect in galactosemia
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galactose-1-phosphate uridyl transferase
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type of bronchoscopy to use in foreign body aspiration
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rigid
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normocytic, normochromic anemia in premie
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anemia of prematurity
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severe dehydration, hyponatremia, hyperkalemia, hypoglycemia, metabolic acidosis
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congenital adrenal hyperplasia or 21-hydroxylase deficiency
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treatment for clavicle fracture in newborn
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none
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asymptomatic male until 6-9 mos who then gets recurrent infections with strep pneumo, h flu
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bruton's
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when is surgery necessary in SCFE?
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if >30-60% of femoral head slips off epiphysis
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paralysis of hand and ipsilateral horner's
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klumpke's palsy
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antibodies in SLE
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anti-sm, anti dsDNA
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