Niemann-pick disease type A-a case report
Keywords:Acid sphingomyelinase, Developmental delay, Genetic counseling, Hepatosplenomegaly, Niemann-Pick Disease
Niemann-Pick Disease is an autosomal recessive disorder of infancy, characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. It is caused by inherited deficiency of an enzyme, acid sphingomyelinase. It leads to deposition of sphingomyelin and cholesterol within the lysosome of reticuloendothelial cells of various organs. Niemann-Pick Disease is classified into four types such as A, B, C and D. We present a case of niemann-pick disease type A. This case report encompasses an 18-month-old male child brought with complaints of progressive abdominal distension, developmental delay, intermittent fever and excessive cry. On examination patient had developmental delay and significant abdominal distension with moderate hepatosplenomegaly. Bone marrow examination showed characteristic lipid laden foamy histiocytes termed as niemann pick cells and sea blue histiocytes. Later on, liver biopsy and splenic aspiration cytology was performed, which also showed same type of foamy cells. Type A is very rare and a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age. No treatment available for type A so far. It’s a rare disease in India. Genetic counseling.
Mane V, Joshi RT, Mane VP. Niemann pick disease-a case report. J Evol Medic Dental Sci. 2012;1(6):955-58.
Sutay NR, Choudhary D, Samariya P, Jha S, Gangul S. Niemann-pick disease type B-a case report. JMSCR. 2017;5(4):19732-6.
Shubhankar M, Sunil KA, Bikash RP, Shantanu KM. Niemann pick disease type A in an Infant: a case report. Sch Acad J Biosci. 2014;2(10):728-30.
Bari MI, Haque MI, Siddiqui AB, Hossain MA, Alam T. Niemann Pick Disease: A Case Report. TAJ: J Teachers Association. 2011;15(1):32-4.
National Institute of Neurological Disorders and Stroke. (NINDS). Niemann Pick Disease Information Page. Available at https://www.ninds.nih.gov/Disorders/All-Disorders /Niemann-Pick-Disease-Information-Page.
Gregory M. Pasteres, Edwin H. Kolodny-lysosomal storage disease. In: Kenneth F. Swaiman, Stephen Ashwal, Donna M. Ferriero editors-Pediatric Neurology: Principleand Practice. 2006:1(4)673-677.
Liu B, Turley SD, Burns DK, Miller AM, Repa JJ, Dietschy JM. Reversal of defectively sosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in then pc1-/- mouse. Proc Natl Acad Sci. 2009;106(7):2377-82.
Sriram S, Ahmed J, Saminathan S, Annie S, Raj S. Case study on type A Niemann pick disease. 2016;11(4):36-8.