Pediatrics

Question 1

Diamond-Blackfan Anemia

Answer 1

pure RBC anemia
thumb abnormalities
heart murmur
MR
hypogonadism
Dx: early in life-1st year
Tx: transfusion, corticosteroids

Question 2

Fanconi anemia

Answer 2

bone marrow failure w/ pancytopenia
short stature
horseshoe kidney
abnormal skin pigment 
absent thumb
Dx: approximately 8 years old, often death in childhood

Question 3

Neurofibromatosis type 1

Answer 3

Autosomal dominant-multiple neuro tumors and skin problems
-cafe au lait spots
-neurofibromas (nerve tumor)
-optic glioma
-frecklying of axilla or inguinal
-iris hamartoma
-cortical thinningof long bones, sphenoid dysplasia
relatvie with similar problems
Dx: with gadolinium enhanced MRI

Question 4

Neurofibromatosis type 2

Answer 4

AUtosomal dominant-chrom 22

• bilateral acoustic neuromas
• cataracts

Question 5

Sturge Weber

Answer 5

port wine stain in territory of trigem nerve (cavernous hemangioma)
skull x-ray-tramline intracranial calcifications
generalized seizures
mental retardation
hemianopsia, hemiparesis, hemisensory defect

Question 6

Cyanotic heart defects

Answer 6

Tetrology of fallot
Transposition of the great vessels
Truncus arteriosus
Total anomolous pulmonary venous return

Question 7

Sex chromosome abnormalities

Answer 7

Turner: 45 XO or mosaicism-webbed neck, short stature, coartation of aorta, lymphedema due to malformed lymph network, high FSH/LH
Klinefelter: 47 XXY- tall, thin male with testicular atrophy, gynecomastia

Question 8

21-alpha hydroxylase deficiency

Answer 8

Congenital adrenal hyperplasia-most common

• low cortisol, estrogen, and testosterone
• build up of 17 alpha hydroxyprogesterone
• ambiguous female genitalia, virilization, male precocious puberty, dehydration, hypotension, low Na+, high K+

Question 9

17-alpha hydroxylase deficiency

Answer 9

Congenital adrenal hyperplasia

• high aldosterone, low cortisol, estrogen, testosterone
• build up pregnenalone/progesterone
• ammenorrhea and ambiguous male genitalia, HTN, high Na+, low K+

Question 10

11-beta hydroxylase deficiency

Answer 10

Congenital adrenal hyperplasia

• excess deoxycorticosterone–>HTN
• low aldo and cortisol, more testosterone/estrogen
• ambiguous genitalia in women and prcocious puberty in male

Question 11

SCID severe combined immunodeficiency

Answer 11

B and T cell defect

-also absent tymic shadow

Question 12

Wiskott Aldrich

Answer 12

B and T cell defect
-eczema 
-bruising (thrombocytopenia)
-recurrent infections (encapsulated)
(defect in WASP gene)

Question 13

Ataxia-telangectasia

Answer 13

B and T cell defect

• cutaneous telangectasias
• cerebellar ataxia
• pulmonary infections secondary to impiared WBC and IgA development

Question 14

DiGeorge syndrome

Answer 14

T cell defect

• chromosome 22q11 deletion- associated with velocardiofacial
• thymic and parathyroid hypoplasia + congenital heart disease
• tetany, facial malform, frequent viral and fungal infections

Question 15

Chronic Mucocutaneous candidiasis

Answer 15

T cell defect
-persisentt infection of skin, mucous membranes and nails by candida
tx-fluconazole

Question 16

x-linked agammaglobulinemia

Answer 16

B cell defect in B cell differentiation-Bruton agammaglobulinemia
-x-linked–>in boys
-No B cells therefore normal CD3 and very low CD 19- B cells
low Ig of every type
-recurrent bacterial infections after age 6 mo.

Question 17

IgA deficiency

Answer 17

B cell defect-decreased IgA, normal other Ig

-high frequency respiratory and gastrointestinal infections

Question 18

Hyper IgM

Answer 18

B cell defect-decreased IgG and IgA-high IgM

-susceptible to encapsulated bacteria (pulm and GI)

Question 19

Common variable immunodeficiency

Answer 19

B cell defect-low all Ig levels, ESPECIALLY IgG

• resp and GI infections in teens
• risk of malignant neoplasms and autoimmune disease

Question 20

CGD

Answer 20

Phagocytic cell defect-absent resp burst to failure of NADPH oxidase
susceptible to catalase positive:
s. aureus, serratia, klebsiella, aspergillosis, SPACE orgs

Question 21

Hyper IgE

Answer 21

Phagocytic cell defect- Jobs disesase-defect in chemotaxis of neutrophils

• dermatitis
• skin abscess
• coarse facial features
• retained primary teeth

Question 22

Chediak Higashi

Answer 22

Phagocytic cell defect

• recurrent staph, strep, gram neg, fungal
• ALBINISM
• thrombocytopenia
• neurologic dysfxn

Question 23

Leukocyte adhesion deficiency

Answer 23

Phagocytic cell defect-high neutrophils but defective and poorly chemotactic

• delayed loss of umbilical cord
• necrotic skin lesions
• severe gingivitis and tooth disease

Question 24

Friedrich Ataxia

Answer 24

teenager
autosomal recessive spinocerebellar ataxia
-gait ataxia, falling, dysarthria, concentric hypertrophic cardiomyopathy (CAUSE OF DEATH)

HIGH YIELD on Step 2

Question 25

VACTERL

Answer 25

``` V-vertebral anomalies A-Anal atresia/imperforate C-Cardiovasc anomalies T-Tracheoesophageal fistula E-Esophageal atresia R-Renal anomalies L-Limb anomalies ```

Question 26

CHARGE Syndrome

Answer 26

- Colobama/CNS defect - Heart Defects - Atresia of the choanae - Retardation-growth/development - Genitourinary defects/hypogogonad - Ear anomalies/deafness

Question 27

Complement deficiencies

Answer 27

predisposition to autoimmune and SLE | risk for recurrent Niesseria meningitides

Question 28

Cyanotic heart lesions

Answer 28

1. Tetrology of fallot 2. Transposition of great vessels- aorta from R ventricle and pulm from left, -narrow mediastinum and heart base, pulm artery not visible on CXR 3. Total anomolous pulm return: converve before R atrium-->enter-->shunt through foramen ovale to cause cyanosis in periphery, enlarged RIGHT side 4. Truncus arteriosus