Amankhai Newmai, Bindiya Gisuthan, Laila Raji N

AN INTERESTING CASE REPORT OF NIEMANN- PICK DISEASE.

  • Economics and Econometrics
  • Energy Engineering and Power Technology
  • Fuel Technology
  • Renewable Energy, Sustainability and the Environment
  • Ophthalmology
  • Surgery
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Niemann Pick disease is a lysosomal storage disease and is autosomal recessive. Type A and B are both due to sphingomyelinase deciency. There is lysosomal accumulation of sphingomyelin, cholesterol, glycolipid and acylglyceropyrophosphate(1). And patient clinically presents with hepatosplenomegaly with or without nervous system involvement and other signs and symptoms. Incidence in Ashkenazi Jews is 1 in 40,000 for type A, 1 in 2,50,000 for both Type A and type B and 1 in 1,50,000 for Type C (2). Our case was a 10 year old male patient who presented with fever and reduced appetite for 4 days. There was no history of vomiting , abdominal pain, yellow discoloration of sclera/ loose stools. On examination patient had cervical, axillary and inguinal lymph node enlargement, hepatosplenomegaly and cherry red spots in macula. Triglyceride levels were elevated. A clinical suspicion of storage disorder was made . FNA of cervical lymph node and bone marrow biopsy aspiration showed foamy histiocytes. Enzyme assay showed low serum acid sphingomyelinase level and genetic work up showed SMPD1 gene positivity. Niemann Pick disease type A/type B was conrmed. The clinical course of our patient was similar to type A/B cases. And patient is on enzyme replacement therapy and on follow up.

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