No abstract

No abstract

No abstract

Mitochondrial Neuro Gastrointestinal Encephalopathy (MNGIE) is rare genetic disorer. It is characteristic by progressive gastrointestinal dysmotility, cachexia, opthalmoplegia and leucoencephalopathy.We hereby report a case of MNGIE in a female.

Niemann Pick Disease  is a rare  disorder of lysosomal storage of the lipid sphingomyelin and foam cell infiltration of tissues presenting with varying degrees of severity.  metabolic abnormalities of two types responsible for causing  NPD.  acid sphingomyelinase deficiency is  the first metabolic abnormality  causing NPD type A and B and and second is defect in cholesterol transport causing NPD type C disease. Herewith reporting a case of Acid Sphingomyelinase Deficient (ASMD) NPD Type A.