Case Presentation

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Case Presentation

• Juliana Lessa Mazzucchelli,MD
• Division of Clinical Immunology
• Department of Pediatrics
• Federal University of São Paulo, Brazil

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15 year-old boy from Paraguay

• 1 mo after BCG regional lymphadenopathy required
  treatment
• 2 y FTT, chronic non-bloody diarrhea, still
  persists
• Hepatosplenomegaly ever since
• 5 episodes of pneumonia required hospital
  admission
• 3y positive PPD and Rx with rifampin x 8mo
• 9y recurrent fever lymphadenopathy - Rx w/ IVIG
  x 7mo, improvement of the lymphadenopathy
• 10y appendicitis and peritonitis recurrent
  Herpes zoster
• 14y first seizure episode, diagnosed w/ a brain
  abscess treated with antibiotics
• 15y recurrent seizure episodes, brain CT showed
  granulomas, Rx for NeuroTB started empirically-
  (4 drug regimen)
• 15y diagnosed with IBD (colonoscopy and biopsy)
• A month later brain CT showed improvement of the
  lesions

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PE Family Hx

• Height/weight normal skin/hair/teeth
• Chronically ill looking,
• Bilateral cervical lymph nodes 2cm diameter, no
  tonsils, liver 7cm RCM, spleen 8cm LCM, not
  tender
• Unrelated parents
• 12yo sister healthy
• 2yo brother hx of hepatosplenomegaly,
  hypothyroidism, chronic diarrhea, developmental
  delay, malnutrition, recent severe bilateral
  periorbital cellulitis, undergoing treatment for
  pulmonary TB

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Labs/Images

• Hb (g) 12.1 platelets 250,000
• WBC (103/mm3) 8,490 (N89 L9 Mo10 Eo 2 )
• IgA
• IgM 233mg/dL (45-230 mg/dl)
• IgG 630mg/dL (653-1470 mg/dl) albumin 3.0 (low)
• Tetanus antibody negative (no recent booster)
• Anion superoxide and CD40L normal
• Uric acid normal ADA and PNP normal levels
• Indirect and direct Coombs positive
• No T cell proliferation studies available

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• HIV (PCR) and EBV negative (serology)
• AFB in the sputum negative, PPD negative
• CSF no positive findings
• Chest X-ray normal
• Abdominal US hepatoesplenomegaly
• Colonoscopy/biopsy of the descending colon
  chronic ulcerative colitis and crypt abscesses
• Brain CT/ MRI multiple granulomas/cerebral edema

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(No Transcript)
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Lymphocyte numbers
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Summary

• Recurrent infections extracellular and
  intracellular bacteria, chronic diarrhea
• Lymphadenopathy, hepatosplenomegaly,
  autoantibodies (Coombs)
• Malnutrition
• IgA deficient
• Borderline IgG, memory B cells present
• CD3 lymphopenia
• 2yo brother w/ similar presentation

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Brothers history and labs

• 2yo male, febrile,
• recently diagnosed pulmonary TB
• no lymphadenopathy
• hx of
• hepatosplenomegaly,
• Hypothyroidism
• chronic diarrhea, malnutrition
• developmental delay
• recent severe bilateral periorbital cellulitis

• IgA 109 normal
• IgM 41(
• IgG 456 (
• Normal lymphocyte subpopulation
• PPD 11cm
• Bowel crypt abscesses

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Dx Systemic TB?

• Evidence against diagnosis of systemic TB as only
  etiology
• No AFB identified ever (got better on treatment
  though)
• TB doesnt explain lymphopenia
• TB doesnt explain BCGitis
• TB doesnt explain () Coombs and brothers
  disease which includes autoimmunity
• TB typically has gastrointestinal granulomas not
  IBD
• What if none of this is TB?

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PID? (the 11th slide)
TB PID?