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Pediatrics Flashcards

1
Q

Diamond-Blackfan Anemia

A 
pure RBC anemia
thumb abnormalities
heart murmur
MR
hypogonadism
Dx: early in life-1st year
Tx: transfusion, corticosteroids
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2
Q

Fanconi anemia

A 
bone marrow failure w/ pancytopenia
short stature
horseshoe kidney
abnormal skin pigment 
absent thumb
Dx: approximately 8 years old, often death in childhood
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3
Q

Neurofibromatosis type 1

A 
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
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4
Q

Neurofibromatosis type 2

A

AUtosomal dominant-chrom 22

  • bilateral acoustic neuromas
  • cataracts
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5
Q

Sturge Weber

A

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

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6
Q

Cyanotic heart defects

A

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

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7
Q

Sex chromosome abnormalities

A

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

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8
Q

21-alpha hydroxylase deficiency

A

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+
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9
Q

17-alpha hydroxylase deficiency

A

Congenital adrenal hyperplasia

  • high aldosterone, low cortisol, estrogen, testosterone
  • build up pregnenalone/progesterone
  • ammenorrhea and ambiguous male genitalia, HTN, high Na+, low K+
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10
Q

11-beta hydroxylase deficiency

A

Congenital adrenal hyperplasia

  • excess deoxycorticosterone–>HTN
  • low aldo and cortisol, more testosterone/estrogen
  • ambiguous genitalia in women and prcocious puberty in male
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11
Q

SCID severe combined immunodeficiency

A

B and T cell defect

-also absent tymic shadow

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12
Q

Wiskott Aldrich

A 
B and T cell defect
-eczema 
-bruising (thrombocytopenia)
-recurrent infections (encapsulated)
(defect in WASP gene)
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13
Q

Ataxia-telangectasia

A

B and T cell defect

  • cutaneous telangectasias
  • cerebellar ataxia
  • pulmonary infections secondary to impiared WBC and IgA development
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14
Q

DiGeorge syndrome

A

T cell defect

  • chromosome 22q11 deletion- associated with velocardiofacial
  • thymic and parathyroid hypoplasia + congenital heart disease
  • tetany, facial malform, frequent viral and fungal infections
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15
Q

Chronic Mucocutaneous candidiasis

A

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

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16
Q

x-linked agammaglobulinemia

A

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.

17
Q

IgA deficiency

A

B cell defect-decreased IgA, normal other Ig

-high frequency respiratory and gastrointestinal infections

18
Q

Hyper IgM

A

B cell defect-decreased IgG and IgA-high IgM

-susceptible to encapsulated bacteria (pulm and GI)

19
Q

Common variable immunodeficiency

A

B cell defect-low all Ig levels, ESPECIALLY IgG

  • resp and GI infections in teens
  • risk of malignant neoplasms and autoimmune disease
20
Q

CGD

A

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

21
Q

Hyper IgE

A

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

  • dermatitis
  • skin abscess
  • coarse facial features
  • retained primary teeth
22
Q

Chediak Higashi

A

Phagocytic cell defect

  • recurrent staph, strep, gram neg, fungal
  • ALBINISM
  • thrombocytopenia
  • neurologic dysfxn
23
Q

Leukocyte adhesion deficiency

A

Phagocytic cell defect-high neutrophils but defective and poorly chemotactic

  • delayed loss of umbilical cord
  • necrotic skin lesions
  • severe gingivitis and tooth disease
24
Q

Friedrich Ataxia

A

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

HIGH YIELD on Step 2

25
Q

VACTERL

A 
V-vertebral anomalies
A-Anal atresia/imperforate
C-Cardiovasc anomalies
T-Tracheoesophageal fistula
E-Esophageal atresia
R-Renal anomalies
L-Limb anomalies
26
Q

CHARGE Syndrome

A
  • Colobama/CNS defect
  • Heart Defects
  • Atresia of the choanae
  • Retardation-growth/development
  • Genitourinary defects/hypogogonad
  • Ear anomalies/deafness
27
Q

Complement deficiencies

A

predisposition to autoimmune and SLE

risk for recurrent Niesseria meningitides

28
Q

Cyanotic heart lesions

A
  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

step 2 (11 decks)

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