Abstract

Introduction: The lysosomal lipid storage diseases are diverse disorders, each caused by an inherited deficiency of a specific lysosomal hydrolases leading to the intralysosomal accumulation of the enzyme’s particular substrate. Niemann-Pick Disease results from the deficient activity of acid sphingomyelinase (ASM), a lysosomal enzyme encoded by a gene on chromosome 11. It is inherited as autosomal recessive trait. The enzymatic defect results in the pathologic accumulation of sphingomyelin, a ceramide phospholipid, and other lipids in the monocyte-macrophage system, the primary pathologic site. The progressive deposition of sphingomyelin in the CNS results in neurodegenerative course seen in type A & in non-neural tissue in the systemic disease manifestation of type B, including progressive lung disease in some patients.

Case Report: A 14-month Fch presented to OPD with history of not gaining weight & height, not achieving milestones as per his age with its peers of same age for last 7 month and abdominal distension for last 6 month. Patient is 2nd order child born out of consanguineous marriage (2nd degree) with uneventful perinatal history. Elder siblings doing well. After complete workup the child was found to have deficient in sphingomyelinase activity suggesting Niemann pick disease. Prognosis & course of the disease explained, counselling done to the parents.

Conclusion: There is no specific treatment for Niemann pick disease. Orthotopic liver transplantation in an infant with Type A disease & cord blood transplantation in several type B NPD patients have been attempted with little or no success. BMT in a small number of patients with type B has been successful. ERT with recombinant human ASM is currently in clinical trials for the type B patients.

Keywords: Lysosomal, sphingomyelinase, autosomal recessive trait, Orthotopic.