Niemann Pick Disease: A Case Report

Abstract

Niemann-Pick Disease is an autosomal recessive disorder of infancy characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes that leads to sphingomyelin and cholesterol storage within the lysosome.Although the disease is common among Jewish individual but is rare in South Asian particularly in Bangladesh. So, we present the case as a rare incidence in our country.

Niemann Pick Disease: A Case Report

“…5 Prevalence of the disease in Bangladesh is not known. 6 Here we are reporting this case as a rare incidence in Bangladesh.…”

“…Bari I et al eported a similar case of NPD type A where the child presented with developmental regression from 5 month of age and gradual abdominal distension. 6 A case report of NPD type A by Shubhankar M et al stated that their patient had Mongolian spots in different parts of the body which was an isolated finding. 10 Similar Mongolian spots were also found in our patient.…”

“…16,17 The only effective method for prevention of NPD appears to be the identification of heterozygotic individuals and the prevention of of such individuals with each other. 6 Niemann pick disease is a rare fatal disease of infancy. Till date there is no definitive treatment for the disease.…”

Niemann Pick Disease – Rare Cause of Chronic Liver Disease-Case Series

“…This familial disease has a challenging and varied presentation, making it difficult to get diagnosed earlier on [1,[3][4][5]. It is characterized by inherited deficiency of an enzyme, acid sphingomyelinase which leads to deposition of sphingomyelin and cholesterol within the lysosome of reticuloendothelial cells of various organs like liver, spleen, bone marrow, lymph node, brain, nerves and kidney [6][7][8][9]. It has been classified into 2 major forms It is classified into two major entities: Acid spingomyelinase deficient Niemann-Pick Disease which result from mutations in SMPD1 gene and it includes type A and type B, Niemann-Pick Disease type C and type D result from mutations in NPC1 and NPC2 gene [6].…”

Niemann-pick disease type A-a case report

“…It is caused by inherited deficiency of an enzyme, acid sphingomyelinase which leads to deposition of sphingomyelin and cholesterol within the lysosome of reticuloendothelial cells of various organs like liver, spleen, bone marrow, lymph node, brain, nerves and kidney. 1,4 It is classified into two major entities…”