Case Presentation Ali F. Ahrabi, MD PGY-3 Pediatrics.
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Transcript of Case Presentation Ali F. Ahrabi, MD PGY-3 Pediatrics.
Aniridia
WAGR association Significant risk of renal-GU anomalies
at birth Risk of developing Wilm’s Tumor Annual u/s
Case-2
13 y/o boy with 3 days of rash on legs Rash is progressive URI symptoms with tactile fever 10 days
ago
Immune Thrombocytopenic Purpura
Primarily a disease of increased peripheral platelet destruction, with most patients having antibodies to specific platelet membrane glycoproteins
Diagnosis of exclusion Hemorrhage represents the most serious
complication; intracranial hemorrhage is the most significant. The mortality rate from hemorrhage is approximately 1%
Spontaneous remission occurs in more than 80% of cases
Treatment: CS + IVIG ± Platelet tx
Case-3
What is the Dx? NF-1 Addison’s Disease Hypergonadotropic Hypergonadism McCune Albright Pityriasis rosea
Mc Cune Albright Syndrome
At least 2 features of the triad of: polyostotic fibrous dysplasia café au lait skin pigmentation autonomous endocrine hyperfunction
The most common forms of autonomous endocrine hyperfunction in this syndrome: gonadotropin-independent precocious puberty also hyperthyroidism, hypercortisolism, pituitary gigantism,
or acromegaly
McCune Albright Syndrome
Fibrous Dysplasia: Long bones, ribs,
and skull Small asymptomatic
areas detectable only by bone scan
Disfiguring lesions that can result in pathologic fractures and impingement on vital nerves
Case-4
15 y/o Girl, otherwise healthy Presents with progressive fatigue and
paleness for 2-3 months H/o heavy menses and dieting CBC 6.3> 6.7/19 <194
Megaloblastic anemia
B-12 defficiency Folic acid
Defficiency Secondary to severe
GI disease Congenital
transcobalamin defects
D. Latum infestation
Sturge Weber Syndrome
Encephalotrigeminal Angiomatosis
Port-wine-stain (angioma) of the forehead and face
Ipsilateral meningeal hemangioma
Seizures, Developmental delay
Embryopathy not inherited
Case-6
5 y/o boy presents with 2-day hx of fever
Hx of 6 hospital admissions, 4 pneumonia
Height and Weight < 3rd centile
Ataxia Talengiectasia
Autosomal recessive Progressive neurologic impairment, cerebellar ataxia Variable immunodeficiency with susceptibility to
sinopulmonary infections High IgM, low IgG and IgA Ocular and cutaneous telangiectasia Predisposition to malignancy
Case-7
2 hr old newborn baby girl FT, NSVD, No PROM, Poor antenatal
f/u APGARs 9/9 Baby with grunting and resp. distress Admitted to NICU
Cystic Adenomatous Malformation
Adenomatous overgrowth of the terminal bronchioles
Often Prenatal diagnosis May remain undiagnosed at birth Usual presentation is respiratory distress in the
newborn period Can present with wheezing, prolonged cough
or frequent infections Fetal intervention available, lobectomy is the
most common postnatal procedure
Thrombocytopenia – Absent Radius Syndrome(TAR)
Rare disorder, Autosomal rececive Reduced platelet production Thrombocytopenia:
50% first week and 90% by 4 months Comes in attacks with normal plt count in between
Cow’s milk allergy in 47% of cases MR in 7% of cases Main DDx is Fanconi anemia (absent thumb)