Transcript Case Presentation

Case Presentation
Ali F. Ahrabi, MD
PGY-3 Pediatrics
Snapshots
in Pediatrics
Part-1
Case
 24 hr-old baby boy
 FT, NSVD, no complications
 Antenatal scans normal
 No FH of significance
Case-1
 What next?
 CT head
 Chromosome
analysis
 Renal U/S
 Cranial U/S
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
Case-2
 What is the most
likely diagnosis?

ITP
 HSP
 Meningococcemia
 Erythema nodosum
Immune Thrombocytopenic Purpura
 Primarily a disease of increased peripheral platelet
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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
 A 6 y/o boy is at Tanner stage 3 sexual
development
 Recent immigrant
 No medical hx available
Case-3
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:
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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
Case-4
 What is the dx?
Megaloblastic anemia
 B-12 defficiency
 Folic acid
Defficiency
 Secondary to severe
GI disease
 Congenital
transcobalamin
defects
 D. Latum infestation
Normal Peripheral Smear
Case-5
 12 m/o baby boy
 Recent Immigrant
 Comes for physical
 No medical issues
Case-5
 What is he at risk
of?
 What is the next
step?
Sturge Weber Syndrome
 Encephalotrigeminal
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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
Case-6
 What is the Dx?
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
Case-7
Cystic Adenomatous Malformation
 Adenomatous overgrowth of the terminal
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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
Case-8
 Newborn baby girl
 FT, NSVD, APGARs
9/9
 Poor antenatal care
 What test next?
Case-8
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)