Peds B

Front 1

Age: Rolls onto Stomach

Back 1

5 months

Front 2

Dx: child born normal and asymptomatic until teens, when he began to have delayed muscle relaxation, progressive muscle weakness, thinning cheeks and atrophy of thenar and hypothenar eminences

Back 2

Myotonic Muscular Dystrophy

Front 3

Dx: G-6-P deficiency

Back 3

Von-Gierke's syndrome

Front 4

Age: Copies Circle

Back 4

3 years

Front 5

Dx: A child presents following a viral illness with Ascending weakness, Paralysis, Loss DTR, may progress to affect Diaphragm (breathing) Tx? (3 possible)

Back 5

Guillain-Barre Tx: (1) Supportive (intubation may be needed) (2) Plasmapheresis (3) IVIG

Front 6

which has a sac--Omphalocele or Gastroschisis?

Back 6

Omphalocele (O is like a closed sac)

Front 7

Dx: A newborn child presents with hypocalcemia, truncus arteriosus, Fishmouth, tetany and Micrognathia What is deficient?

Back 7

DiGeorge syndrome Deficiency: T-cells (from hypoplasia of 3rd and 4th pharyngeal pouches; thymus)

Front 8

Tx: Hereditary Angioedema

Back 8

Danazol (and Epi if needed)

Front 9

Dx: palpable purpura, glomerulonephritis, decreased complement, arthralgias, HSM, peripheral neuropathy and positive HCV

Back 9

Mixed Essential Cryoglobinemia (hCv = Cryoglobinemia)

Front 10

What coagulopathy presents with: High PT, High PTT, High Bleeding Time

Back 10

DIC (will also see low platelet count)

Front 11

A full-term newborn is born vaginally after a pregnancy complicated by gestational diabetes that was poorly controlled. He is born with scleral icterus. Three hours after birth the baby is plethoric, irritable and cyanotic. Six hours after birth he has a seizure. What hematological abnormality is most likely seen on his CBC?

Back 11

Polycythemia (a known complication in the infant of a diabetic mother)

Front 12

What (2) electrolyte disorders accompany Rhabdomyolysis?

Back 12

1. Hyperphosphatemia (leading to...) 2. Hypocalcemia

Front 13

When should Ampicillin be added to the treatment of meningitis? (2) When should Vancomycin be added?

Back 13

Ampicillin: 1. Listeria (as bug) 2. Neonates Vancomycin: Pneumococcus

Front 14

Dx: a boy presents with a high PTT and Hemarthrosis Tx?

Back 14

Hemophilia A Tx: replace Factor VIII

Front 15

Tx: prevents painful episodes of Sickle cell crisis

Back 15

Hydroxyurea

Front 16

A 4-yo child presents with a platelet count of 30K and you diagnose her with ITP. what is the most appropriate Tx at this time?

Back 16

No specific therapy (when platelets go below 20K start on oral prednisone; a splenectomy is done for those with no response to prenisone or those with recurrent ITP)

Front 17

Dx: Lymphocytic meningitis, rash on wrists and ankles moving centrally Tx?

Back 17

Rocky Mountain Spotted Fever Tx: Doxycycline (and Ceftriaxone for meningitis prophylaxis)

Front 18

Dx: A term male infant is found to be cyanotic shortly after birth and requires endotracheal intubation. On physical examination, his blood pressure is 68/34 mm Hg (equal in all four extremities), pulse is 180/min, and respirations are 32/min. His precordium is dynamic, has a grade III systolic murmur, and a single S2. Chest radiography shows a normal heart size and increased pulmonary vascular markings. An arterial blood gas on an FiO2 of 100% shows pH 7.34; PaCO2, 47 mm Hg; PaO2, 46 mm Hg

Back 18

Total Anomalous Pulmonary Venous Return (characterized by the pulmonary veins forming a confluence behind the left atrium, and draining into the right atrium. Complete mixing takes place in the right atrium, with a right-to-left shunt through the foramen ovale to the left side of the heart)

Front 19

What (3) malignancies are associated with EBV?

Back 19

1. Burkitt Lymphoma 2. Hodgkin Dz 3. Nasopharyngeal CA

Front 20

a child swallows an unlabled bottle of pills: signs of hemorrhagic gastroenteritis (bloody diarrhea), N/V, diarrhea, acute liver failure, shock, coma Test? Tx?

Back 20

Iron pill overdose test: Serum Iron level Tx: Deferoxamine

Front 21

Dx: Heart d/o assoc with DiGeorge syndrome

Back 21

TOF, interupted arch, VSD, PA, truncus

Front 22

what type of acid/base disorder do you see with a 2 day history of diarrhea?

Back 22

Hyperchloremic Normal Anion gap Acidosis (loss of bicarb in the stool stimulates renal tubular reabsorption of chloride ions)

Front 23

MC birthing brachial plexus injury? what nerve roots? another name for this injury?

Back 23

Erb-Duchenne roots: C5-C6 (C4: if ipsilateral diaphragmatic paralysis also)

Front 24

Dx: severe dehydration in neonate with HypoN, HyperK and HypoG plus Metabolic Acidosis

Back 24

Congenital Adrenal Hyperplasia (21-hydroxylase deficiency)

Front 25

Dx: Loud harsh pansystolic murmur heard in the Lower left sternal border What can it lead to?

Back 25

VSD (MC heart defect) Leads to: Eisenmenger’s syndrome (VSD shunt reverses right to left when the PVR exceeds the SVR)

Front 26

Dx: A patient presents with mild MR, prominent lips and a long philtrum, a systolic ejection murmur and hypercalcemia.

Back 26

Williams syndrome

Front 27

Age: walks up and down stairs without help and has 2 - 3 word phrases

Back 27

24 months old

Front 28

birthing injury where baby has hand extended and fingers flexed what nerve roots? another name for this injury?

Back 28

Klumpke roots: C8-T1

Front 29

What are (4) developmental milestones at 9 months old?

Back 29

"Pinches Ma-ma's furniture Bye-Bye to cruise" 1. Pincher grasp 2. says: Mama or Dada 3. waves Bye-Bye 4. Cruises around furniture

Front 30

Dx: a male infant between the ages of 6 – 12 months presents with recurrent lung and sinus infections, esp. pneumococcus and H.influenzae; All Immunoglobulins are Low and B-cells are low or absent Tx?

Back 30

Bruton's Agammaglobinemia (X-linked recessive) Tx: replace IgG

Front 31

Dx: "sea-blue" histiocytes

Back 31

Niemann-Pick

Front 32

Dx: a child presents with a wide-based gait, decreased vibratory and position sense in lower extremities, absent ankle jerk bilaterally, atrophy of cervical spinal cord and T-wave inversions

Back 32

Friedreich Ataxia (Trinucleotide repeats; Autosomal Recessive)

Front 33

What are the (3) main Right-to-Left shunt developmental Heart disorders?

Back 33

1. Tetralogy of Fallot; 2. Transposition of the great vessels; 3. Tricuspid Atresia

Front 34

Dx: Defect in neutrophil chemotaxis

Back 34

Chediak-Higashi syndrome

Front 35

Age: walks up and down stairs without help and has 2 - 3 word phrases

Front 36

Dx: Loud, palpable S2 without murmur; Common cause of heart failure in first week of life. What can Patient develop?

Back 36

Hypoplastic Left Heart (Underdevelopment of left cardiac chambers, atresia or stenosis of aortic and/or mitral orifices, and hypoplasia of the aorta) Patient develops Metabolic Acidosis

Front 37

On physical examination, the infant is afebrile with stable vital signs. She can lift her head to 90 degrees, her eyes follow past the midline, she laughs, regards her own hand and has slight awareness of her mother. How old is she?

Back 37

4 months

Front 38

Dx: Superoxide deficiency in Macrophages

Back 38

Chronic Granulomatous Dz

Front 39

MC Sx of mixed Sickle cell trait

Back 39

painless Hematuria

Front 40

Dx: Child stares into space in middle of sentence, then 20 seconds later he resumes his sentence Dx test results? Tx?

Back 40

Absence seizure Dx test: EEG showing 3-Hz Spike and Wave pattern Tx: Ethosuximide

Front 41

what are the (4)* MC congenital problems in infant of a diabetic mother?

Back 41

"A Diabetic Causes Trouble": 1. Ancephaly / NT defects 2. Duodenal Atresia / small left colon 3. Caudal Regression syndrome 4. Transposition of the Great Vessels

Front 42

what is the difference in RDW levels b/t thalassemia and Iron-deficiency anemia?

Back 42

RDW: normal in Thalassemia High in Iron-deficiency anemia

Front 43

What occurs if you correct the following problems too fast? 1. DI 2. DKA 3. SIADH

Back 43

1. DI -> Seizures 2. DKA -> Cerebral edema -> Herniation 3. SIADH -> CPM

Front 44

A 13-yo girl presents with lethargy, fever, severe HA and a stiff neck. On exam she has a unilateral fixed, dilated pupil and papilledema. What is the initial step in management?

Back 44

Intubation and Hyperventilation

Front 45

A 2-yo boy undergoes end-to-end repair of an aortic coarctation. Seven years later he has HTN symptoms again. Tx?

Back 45

Angioplasty via balloon (TOC for re-coarctation)

Front 46

Deficient enzyme: FTT, bilateral cataracts, jaundice and hypoglycemia at birth

Back 46

Galactose-1-phosphate

Front 47

Dx: Beta-Galactosidase deficiency

Front 48

MCC of Meningitis in: Patient > 2 months old

Back 48

Pneumococcus

Front 49

If a child presents with asthma and other allergic disorders (allergic rhinitis or eczema), what is the best long term medication?

Back 49

Mast Cell Stabilizers (inhaled Cromolyn)

Front 50

Dx: a patient has a specific component of the complement system that is low and continues to get Neisseria infections.

Back 50

Complement deficiency in any complement from C5 - C9

Front 51

Dx: Acanthocytes (spiny RBC)

Back 51

Abetalipoproteinemia

Front 52

Dx: short, Inc calcium, developmental delay, overy friendly, supravalvular aortic stenosis

Back 52

Williams syndrome

Front 53

Dx: Tall, infertile, gynecomastia, microtestes

Back 53

Klinefelter's syndrome (XXY)

Front 54

What is the difference in Tx wth Ewings Sarcoma and Osteosarcoma?

Back 54

Ewings: Surgery, Chemo, Radiation Osteosarcoma: Surgery & Chemo only!

Front 55

What is the MC malignant tumor in infancy?

Back 55

Neuroblastoma

Front 56

Dx; Strawberry rash of newborn with difficulty breathing

Back 56

Epiglottic Hemangioma

Front 57

Dx: Weak/delayed/absent lower extremity pulses, HTN What is seen on CXR? What Dz is it assoc with?

Back 57

Coarctation of the Aorta CXR: Rib notching Dz: Turner's Syndrome

Front 58

Dx: MCC of cyanosis in the first 24 hours of life; loud single S2 What is seen on CXR? Tx (aside from airway) until surgery?

Back 58

Transposition of Great Vessels CXR: "Egg on a string" (ECG will show right axis deviation and RVH) Tx: Prostaglandin (to keep PDA open until surgery)

Front 59

Dx: Hereditary eye problem with progressive night blindness, field constriction and loss of acuity

Back 59

Retinitis Pigmentosa

Front 60

In assessing dehydration, what are the (7)* main findings to evaluate? How many findings equal <5% dehydration? More then 10% dehydration?

Back 60

having Dehydration is "BUM NEWS": 1. BP and HR 2. Urine output 3. Mucous membranes and Tears 4. Neurological status 5. Eye and Fontanels 6. Weight 7. Skin turgor/color and Capillary refill <5% = <3 findings >10% = >6 findings

Front 61

Dx; A 12-mo with foul-smelling, non-bloody stool 7-8 times/day, irritable, pre-tibial edema, erythematous vesicles on extensor surfaces of elbows and knees and microcytic anemia

Back 61

Celiac Disease (begins at age 12 - 15 mo)

Front 62

Dx: 6-yo boy presents with dark pubic hair, enlarged penis/testis, growth spurt and acne

Back 62

Hypothalamic tumor (without growth spurt may be 21-hydroxylase deficiency)

Front 63

Dx: Infant gets repeated pneumonias at beginning of life due to exhaustion of maternal IgG in system

Front 64

MC abdominal mass in newborn

Back 64

Polycyctic Kidney disease

Front 65

MC adolescent bone tumor. It occurs in a Metaphyseal area on the Distal Femur, Proximal Tibia or Proximal Humerus what is seen on x-ray? Who has an increased risk?

Back 65

Osteosarcoma x-ray: Codman triangle (bony sclerosis) Inc risk: patients with Bilateral Retinoblastoma

Front 66

Dx: IgG, IgM and IgA are all very low, very low B-cells, bacterial infections in the first 5 years of life

Back 66

X-linked Agammaglobinemia

Front 67

Aside from certain meds, what are the (6)* main contraindications of offering newborn breast milk?

Back 67

“A Healthy Toddler Gladly Sucks Vitaminsâ€: AIDS; Herpes if breast lesions; TB (active, untreated); Galactosemia; Syphilis; Varicella

Front 68

Tx: West syndrome (Infantile spasms) (2)

Back 68

ACTH and Prednisone

Front 69

What type of juvenile RA occurs in a few large joints (like knee, hip shoulder)?

Back 69

Pauciarticular JRA

Front 70

A 2-mo is admitted with constipation and an abdominal mass, fever, feeding poorly and vomiting for the past 2 days. A barium enema is ordered and shows Hirschprung's Dz. what is the most important next step?

Back 70

IV fluid hydration and IV antibiotics (reestablish IV volume and prevent sepsis)

Front 71

What additional (3) things are needed in formula for premature infants?

Back 71

1. Extra Calories (22kcal/oz) 2. Extra Calcium 3. Extra Phosphorus

Front 72

What electrolyte abnormality is commonly seen in a newborn macrosomic infant from a mother with diabetes?

Back 72

Hypocalcemia (and hypomagnesemia)

Front 73

Dx: "sea-blue" histiocytes

Front 74

Dx: palpable purpura, glomerulonephritis, decreased complement, arthralgias, HSM, peripheral neuropathy and positive HCV

Back 74

Mixed Essential Cryoglobinemia (hCv = Cryoglobinemia)

Front 75

Dx test: Chronic Granulomatous Dz

Back 75

Nitroblue Tetrazolium

Front 76

Dx: Bilateral ptosis, difficulty getting up from chair and muscle weakness

Back 76

Myasthenia Gravis

Front 77

Dx: child with increased AA in urine, photosensitivity, ataxia and neuro problems

Back 77

Hartnup Dz

Front 78

MC child brain tumor in cerebrum

Back 78

Benign Astrocytoma

Front 79

When does stranger anxiety start and peak?

Front 80

Dx test: Tuberous Sclerosis

Back 80

CT scan of head (Calcified periventricular tubers)

Front 81

Dx: short, Inc calcium, developmental delay, overy friendly, supravalvular aortic stenosis

Front 82

Dx: child with morning Headache, vomiting (causing HA to go away); Ataxia, nystagmus, head-tilt, intention tremor Specific site?

Back 82

Cerebellar Astrocytoma (MC childhood brain tumor) site: Infratentorial (posterior fossa)

Front 83

A child presents with "cat-scratch Dz." what is the bug? what is the Dx/confirmatory test?

Back 83

Bartonella henselae test: Serum antibody titers

Front 84

Dx: Alpha-Galactosidase deficiency

Back 84

fAbry's Dz (fAAAAAbry's)

Front 85

Dx: Apical Click followed by a late-systolic murmur

Back 85

Mitral Prolapse

Front 86

Tx: Homocystinuria

Back 86

Vitamin B6

Front 87

Dx: Continuous murmur w/ wide pulse pressure heard in the upper left sternal border Tx?

Back 87

PDA Tx: Indomethicin

Front 88

When does stranger anxiety start and peak?

Back 88

starts: 6 - 8 months peaks: 12 - 15 months

Front 89

Dx: Hyperinsulinemia, omphalocele, macroglossia, organomegaly

Front 90

Dx: Bilateral ptosis, difficulty getting up from chair and muscle weakness

Back 90

Myasthenia Gravis

Front 91

Dx: a child presents with a slowly developing back pain and neuro degeneration with a "step-off" palpated at lumbosacral area

Back 91

Spondylolisthesis

Front 92

Dx: 6-yo boy presents with dark pubic hair, enlarged penis/testis, growth spurt and acne

Front 93

Dx: Bilateral ptosis, difficulty getting up from chair and muscle weakness

Back 93

Myasthenia Gravis

Front 94

Dx: Cyanosis; Single second heart sound; Murmur Heard in Upper left sternal border What is seen on CXR?

Back 94

Tetralogy of Fallot CXR: Boot-shaped heart

Front 95

Child Brain Tumor: Cyst and mural nodule assoc with vonHipple-Lindau

Back 95

Hemangioblastoma

Front 96

Dx: a 9-yo boy presents with increasing clumsiness, change in speech, wide-based unsteady gait, nystagmus and no DTRs. what heart problem can it lead to in the future?

Back 96

Friedrich Ataxia leads to: Hypertrophic Cardiomyopathy

Front 97

Dx: Bone tumor causing "onion-skinning" of mid-shaft of femur what chromosomal problem?

Back 97

Ewing's Sarcoma chromosome: t(11;22)

Front 98

What coagulopathy presents with: High PT, Normal PTT, Normal Bleeding Time

Back 98

Warfarin toxicity

Front 99

Dx: A 3 – 5 yo child w/ an acute onset of Anorexia, pallor, fever, bone pain in 1/4 of patients, Pancytopenia. Dx Test? Tx? (3) MC places for Relapse? (2)

Back 99

Acute Lymphocytic Leukemia (MC childhood cancer) Dx test: Bone Marrow bx Tx: 1. Chemotherapy, 2. Radiation, 3. Transplant Relapse: 1. TESTES 2. CNS

Front 100

What are the minor criteria of Rheumatic fever? (5)

Back 100

FAILS: 1. Fever 2. Arthralgia 3. Increased CRP or ESR 4. Long PR interval 5. Strep culture + or ASO+

Front 101

Dx: A child has Sx of Petechiae (that do not blanch), but patient appears well and possible bleeding of mucous membranes; very low platelet count; Bone marrow is normal (or an increase in Megakaryocytes) Tx? (3 together)

Back 101

Idiopathic Thrombocytopenia (ITP) Tx: (1) IV-IG (2) Steroids (must do bone marrow first) (3) Anti-D globulin

Front 102

What coagulopathy presents with: Normal PT, High PTT, High Bleeding time

Back 102

vonWillebrand's Disease (Autosomal dominant)

Front 103

what are the (4)* main features of Beckwith-Wiedmann syndrome?

Back 103

HOMO: 1. Hypoglycemia & Hyperinsulinemia 2. Omphalocele 3. Macroglossia & Macrosomia 4. Organomegaly

Front 104

What are the erruption times of permanent teeth? (8)*

Back 104

"Mama Is In Pain, Papa Can Make Medicine": 1st Molar: 6 years 1st Incisor: 7 years 2nd Incisor: 8 years 1st Premolar: 9 years 2nd Premolar: 10 years Canine: 11 years 2nd Molar: 12 years 3rd Molar: 18-25 years

Front 105

Age: Rolls onto Back

Back 105

4 months

Front 106

Dx: watery to bloody Diarrhea, N/V, fever, possible neurologic Sx, caused by ingesting poultry or raw eggs Tx?

Back 106

Salmonella Tx: Hydration only (no Abx - they prolong Dz)

Front 107

Dx: child who has painful bones that wake him from sleep but are relieved by aspirin

Back 107

Osteoid Osteoma

Front 108

What are the (2) disorders where infants have Hypotonia or Flaccidity?

Back 108

1. Werding-Hoffmann Dz 2. Infant Botulism

Front 109

Dx: Place of foreign body aspiration in a child that was supine or is an epileptic

Back 109

Right Bronchi in Posterior Segment of Lower Lobe

Front 110

What is the MCC of Nephrotic syndrome in Pediatrics? Tx? Main possible Complication?

Back 110

Minimal Change Disease (MCD) Tx: Steroids Complication: Spontaneous Peritonitis

Front 111

Bacterial Diarrhea: Ulcerative colitis-like Sx plus Arthritis

Back 111

Campylobacter (MCC of infectious diarrhea)

Front 112

Dx: Hyperinsulinemia, omphalocele, macroglossia, organomegaly

Back 112

Beckwith-Wiedemann syndrome (HOMO)

Front 113

MC genetic defect in CF

Front 114

MC Sx of mixed Sickle cell trait

Back 114

painless Hematuria

Front 115

Difference in presentation with Niemann-Pick Dz and Tay-Sachs Dz?

Back 115

Both have Cherry-red spot on Macula NP: Hepatosplenomegaly TS: No hepatosplenomegaly

Front 116

Dx: MR with midline defects, cleft lip/palate

Back 116

Patau syndrome (Trisomy 13)

Front 117

Dx: A 16-year-old boy presents with a temperature of 38.4 C (101 F) and low back, wrist, and knee pain. He had a sore throat 1 month earlier. His arthritis is diffuse. Pea-sized swellings are noted over the skin on his knees. He has a serpiginous erythematous area on his anterior trunk. His blood and throat cultures are negative, and his CBC is unremarkable. His antistreptolysin-O (ASO) titer is high. Tx? (2 together)

Back 117

Rheumatic Fever Tx: 1. Penicillin 2. Aspirin

Front 118

Dx: MR with rocker-bottom feet and clenched fist

Back 118

Edward's syndrome (Trisomy 18)

Front 119

Dx: Onset of HA with focal neurological sx soon after acute otitis media?

Back 119

Brain Abscess

Front 120

An infant is crawling around on the floor at home and suddenly become cyanotic. what is the first step?

Back 120

Back blows followed by chest thrusts (never perform a blind finger sweep in a child, b/c it can push the aspirated object further)

Front 121

Dx: A 5-year-old girl presents with a 3-day history of fever, dyspnea, and intermittent joint pain. She has a history of sore throat about 1 month ago. On physical examination, her temperature is 39.6 C (103.2 F), blood pressure is 94/60 mm Hg, pulse is 114/min, and respirations are 22/min. Her knees and elbow joints are swollen and tender to palpation. There is a grade III/VI diastolic murmur best heard at the apex. Multiple fine, pink macules are noted on her trunk. These macules are blanching in the middle. Tx?

Back 121

Rheumatic Fever Tx: Penicillin

Front 122

MC child brain tumor in cerebrum

Back 122

Benign Astrocytoma

Front 123

A child presents with swallowing kerosene. What is the primary objective? What are the first (2) tests? What are (2) Tx?

Back 123

objective: Prevent Aspiration resulting in Chemical Pneumonitis tests: 1. CXR 2. Blood Gas Tx: 1. Prevent aspiration 2. avoid gastric lavage

Front 124

MCC of conjunctivitis in newborn (less then 24 hours-old)

Back 124

Chemical (from Silver Nitrate drops)

Front 125

A premature infant on a vent has signs of pneumonia. MC bug?

Back 125

Oxacillin-Resistant Staph Aureus (MRSA would also cause skin pustules of periumbilical and diaper areas)

Front 126

Dx: Infant with spinal muscular atrophy, Fasciculations, frog-leg posture Dx Test/results? (3) Tx?

Back 126

Werdnig-Hoffman Dz ("Floppy-Baby" syndrome) Dx Test: 1. EMG: Fibrillations 2. Muscle bx: denervation 3. Nerve bx: slowed conduction Tx: Supportive

Front 127

How many mL/kg water loss is considered Mild, Moderate and Severe?

Back 127

Mild = < 50mL/kg Moderate = 50 - 99mL/kg Severe = > 100mL/kg

Front 128

First test: Nasal polyps found in child

Back 128

Pilocarpine Sweat Test (polyps in child = CF)

Front 129

What are the (11)* criteria (of which 4 or more need to be present) to diagnose SLE?

Back 129

SOAP BRAIN MD: 1. Serositis (pleuritis/pericarditis) 2. Oral ulcers 3. Arthritis 4. Photosensitivity 5. Blood (any can be low) 6. Renal problems 7. ANA+ 8. Immunological (ds-DNA+) 9. Nero Sx (psych, seizures) 10. Malar Rash 11. Discoid Rash

Front 130

Dx: child born normal and asymptomatic until teens, when he began to have delayed muscle relaxation, progressive muscle weakness, thinning cheeks and atrophy of thenar and hypothenar eminences

Back 130

Myotonic Muscular Dystrophy

Front 131

Diarrhea that is caused by "chitlins" at a picnic

Back 131

Vibrio

Front 132

What (2) coagulopathies present with: Normal PT, High PTT, Normal Bleeding time What medication also presents this way? What else in blood work differentiates it?

Back 132

Coags: Hemophilia A and Hemophilia B (X-linked recessive) Med: Heparin Difference: Thrombocytopenia

Front 133

Dx: Corneal clouding, cataracts, early renal failure

Back 133

Fabry's Dz

Front 134

Dx: orange/yellow warty lesion on the scalp in newborn that displaces hair growth Tx? what can it lead to?

Back 134

Nevus sebaceous Tx: leave alone until Adolescence (should go away) leads to: 15% chance to become malignant

Front 135

What are the (5) Tanner stages for Pubic hair?

Back 135

1. None 2. Scant, Fine hair 3. Curly, extending laterally 4. Adult-like hair, NOT on medial thigh 5. Adult hair on medial thigh

Front 136

Tx: prevents painful episodes of Sickle cell crisis

Back 136

Hydroxyurea

Front 137

What are the (5) parts of the Major criteria for Rheumatic Fever? What is Ailment is it assoc with?

Back 137

Major (JONES) Criteria: (2 of these = Rheumatic fever) J = Joints = carditis (O looks like a heart) N = Nodules (subcutaneous) E = Erythema marginatum S = Sydenhams chorea Assoc with: Strep throat (GAS)

Front 138

COD: Meningococcemia

Back 138

Adrenal Failure/Hemorrhage (from advancing to Waterhouse-Friderichsen syndrome)

Front 139

What are the nodular swellings of the irises in NF-1 patients?

Back 139

Hamartomas

Front 140

what is seen in the serum of someone with a pneumonia caused by Mycoplasma?

Back 140

Cold Agglutinins

Front 141

Dx: Child with short stature, Bitemporal hemianopsia and endocrine abnormalities Dx test? What can occur post-op?

Back 141

Craniopharyngioma(Supratentorial) Dx test: X-ray of skull: Large Cella Tursica Post-op: Diabetes Insipidus

Front 142

Differential for Lymphocytic meningitis and next test for each (3)

Back 142

Test: IgG and IgM Serology 1. Rocky Mt. Spotted Fever 2. Lyme disease Test: India Ink (or cryptococcal antigen) 3. Cryptococcus

Front 143

Dx: Systolic ejection murmur best heard at the left upper sternal border and a mid-diastolic murmur at the lower left sternal border; Fixed S2

Back 143

ASD

Front 144

Dx: MR, spasticity, aggressive behavior, self-mutilation, Gout arthritis

Back 144

Lesch-Nyhan

Front 145

what one sign is most suggestive of Primary TB?

Back 145

Hilar lymphadenopathy

Front 146

Deficient enzyme: FTT, bilateral cataracts, jaundice and hypoglycemia at birth

Back 146

Galactose-1-phosphate

Front 147

Dx: A child presents with recurrent episodes of non-pitting edema on the skin (including swelling of eyelids and lips), GI tract and respiratory system and a family history of the same problem; C4 complement is low What is the deficiency? Genetics? Tx?

Back 147

Hereditary Angioedema Deficiency: C1 Esterase Inhibitor Genetics: Autosomal Dominant Tx: Epinepherine and airway (like for anaphylaxis)

Front 148

Dx: Optic atrophy, spasticity, Globoid bodies in brain

Back 148

Krabbe's Dz

Front 149

Dx: Marfan features + Thromboembolic events enzyme deficiency?

Back 149

Homocystinuria enzyme: Cystathionine Synthase

Front 150

What hormone is responsible for growth plate fusion?

Back 150

Estradiol

Front 151

Dx: A child of 2 – 7 months presents with Recurrent mixed Flexor-Extensor spasms lasting only a few seconds, but repeat more then 100 times in a row; Looks like multiple Startle or Moro response Dx Test & Result? Tx? (2 together)

Back 151

Infantile spasms ("West syndrome") Dx Test: EEG: HYPSARRTHYMIA Tx: 1. ACTH 2. prednisone

Front 152

Friedrich ataxia

Back 152

The primary site of pathology is spinal cord and peripheral nerves. Sclerosis and degeneration of dorsal root ganglion, spinocerebellar tracts, lateral
corticospinal tracts, and posterior columns[6]. In peripheral nerves there is a loss of large myelinated fibres.Heart disorders (e.g., atrial fibrillation, and resultant tachycardia (fast heart rate) and hypertrophic cardiomyopathy )