Case Presentation

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Case Presentation

• Ali F. Ahrabi, MD
• PGY-3 Pediatrics

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Snapshots in Pediatrics

• Part-1

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Case

• 24 hr-old baby boy
• FT, NSVD, no complications
• Antenatal scans normal
• No FH of significance

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Case-1

• What next?
• CT head
• Chromosome analysis
• Renal U/S
• Cranial U/S

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Aniridia

• WAGR association
• Significant risk of renal-GU anomalies at birth
• Risk of developing Wilms Tumor
• Annual u/s

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Case-2

• 13 y/o boy with 3 days of rash on legs
• Rash is progressive
• URI symptoms with tactile fever 10 days ago

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Case-2

• What is the most likely diagnosis?
• ITP
• HSP
• Meningococcemia
• Erythema nodosum

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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

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Case-3

• A 6 y/o boy is at Tanner stage 3 sexual
  development
• Recent immigrant
• No medical hx available

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Case-3
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Case-3

• What is the Dx?
• NF-1
• Addisons Disease
• Hypergonadotropic Hypergonadism
• McCune Albright
• Pityriasis rosea

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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

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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

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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 6.3gt 6.7/19 lt194

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Case-4

• What is the dx?

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Megaloblastic anemia

• B-12 defficiency
• Folic acid Defficiency
• Secondary to severe GI disease
• Congenital transcobalamin defects
• D. Latum infestation

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Normal Peripheral Smear
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Case-5

• 12 m/o baby boy
• Recent Immigrant
• Comes for physical
• No medical issues

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Case-5

• What is he at risk of?
• What is the next step?

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Sturge Weber Syndrome

• Encephalotrigeminal Angiomatosis
• Port-wine-stain (angioma) of the forehead and
  face
• Ipsilateral meningeal hemangioma
• Seizures, Developmental delay
• Embryopathy not inherited

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Case-6

• 5 y/o boy presents with 2-day hx of fever
• Hx of 6 hospital admissions, 4 pneumonia
• Height and Weight lt 3rd centile

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Case-6

• What is the Dx?

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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

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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

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Case-7
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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

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Case-8

• Newborn baby girl
• FT, NSVD, APGARs 9/9
• Poor antenatal care
• What test next?

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Case-8
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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
• Cows milk allergy in 47 of cases
• MR in 7 of cases
• Main DDx is Fanconi anemia (absent thumb)