Niemann Pick Disease

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Niemann Pick Disease

Author: Pediatric Oncall

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Case: A 2 years old boy born of non consanguineous marriage, resident of Uttar Pradesh {Northern India with high endemicity of Kalaazar} presented with recurrent intermittent fever for past 1 year, pruritic rash all over body for 1 year, progressive distension of abdomen for 6 months, pallor and generalized edema for 8 days. There is no jaundice, oliguria, diarrhea or bleeding from anywhere. There is no contact with a patient of TB. Birth history, immunization, development and diet are normal. On examination he had tachycardia {heart rate = 134, min}, tachypnea {respiratory rate = 52, min}, pallor, generalized lymphadenopathy, petechiae, seborrhoeic dermatitis on scalp and edema. He was malnourished {weight = 9 kg, height = 75 cm` Less than 5th centile}. He had splenohepatomegaly {spleen crossing the midline}, ascitis and umbilical hernia. Other systems were normal. Investigation showed:
- Hemoglobin = 5.7 gm, dl {MCV = 90.2 percent, MCHC = 28.9 fl, RDW = 17.8 percent}
- WBC count = 2,100, cumm {12 percent polymorphs, 88 percent lymphocytes}
- Platelets = 49,000, cumm
- ESR = 100 mm at end of 1 hour
- Liver transaminases, Renal function tests Normal
- Total proteins = 5 gm, dl, Albumin = 2.0 gm, dl
- Ascitic fluid = Proteins of 0.72 gm, dl, 45 cells {75 percent polymorphs, 25 percent lymphocytes}
- Bilirubin = 0.7 mg, dl
- LDH = 384 IU, L
- Serum uric acid = 3.9 mg, dl
- Prothrombin time, Partial thromboplastin time = Normal
- USG Abdomen = Splenohepatomegaly with bright echotexture with gross ascitis
- Bone marrow aspirate : Hypercellular marrow with normal megakaryocytes and myeloid series. Hemophagocytosis seen. No LD bodies. Sea blue histiocytes seen {Niemann Pick diseases}
- Coomb’s test = Negative
- Triglycerides = Normal
- Splenic aspirate = No LD bodies
- Hemoglobin electrophoresis = HbF of 1.6 percent, HbA2 = 3.1 percent. Rest all HbA.
- Fundus = Optic atrophy

He was treated with Amphotericin B for suspicion of Kalaazar.

Does this child have Niemann Pick’s diseases_?