ABSTRACT
Niemann Pick disease is a rare disorder occuring in paediatric age group. The clinical features, hematological characteristics and autopsy findings in an one year old male diagnosed to have Niemann Pick disease are presented.
Subject(s)
Child , Humans , Lung/pathology , Male , Niemann-Pick Diseases/pathology , Spleen/pathologySubject(s)
Biopsy, Needle , Bone Marrow/ultrastructure , Child, Preschool , Humans , India , Infant, Newborn , Male , Microscopy, Electron , Niemann-Pick Diseases/pathologyABSTRACT
We present a case of a 15-year- old female patient, with history of skin rash since early age that was followed by diarrhea and hepatosplenomegaly. It was not until the age of 9 years when she started to have neurological manifestations. A bone marrow biopsy was carried out which confirmed the diagnosis of Type C Niemann-Pick disease
Subject(s)
Humans , Female , Niemann-Pick Diseases/pathologyABSTRACT
A 2 year old female child with Niemann-Pick disease was referred as case of chronic liver disease; clinically, she had neurological involvement. Liver biopsy showed Niemann-Pick cells. Hepatic manifestations of Niemann-Pick disease as seen in nine cases reported from India are discussed.
Subject(s)
Child, Preschool , Diagnosis, Differential , Female , Humans , Liver Diseases/pathology , Niemann-Pick Diseases/pathologyABSTRACT
Administration of pyrene-linked fatty acids and lipids to cultured cells or an enveloped (vesicular stomatitis) virus induced photosensitization which, following irradiation with a long ultra-violet light (LUV), resulted in killing of the cells and loss of the infectivity of the virus with the following specific effects. (i) LUV illumination of the pyrene-sphingomyelin administered cultured skin fibroblasts derived from normal individuals and patients with Niemann-Pick disease permitted selective killing of the latter. (ii) Similarly LUV illumination of pyrenedodecanoic acid (P12) incubates of leukemic cell lines mixed with human bone marrow cells permitted selective killing of the former. (iii) LUV illumination of P12 incubates of vesicular stomatitis virus decreased the infectivity of the virus by up to 12 logs.
Subject(s)
Cell Survival/drug effects , Cells, Cultured , Fibroblasts , Lauric Acids/pharmacology , Leukemia, Myeloid/pathology , Niemann-Pick Diseases/pathology , Pyrenes/pharmacology , Sphingomyelins/pharmacology , Tumor Cells, Cultured , Ultraviolet Rays , Vesicular stomatitis Indiana virus/growth & developmentABSTRACT
The second case of infantile Niemann-Pick disease was reported in a Thai newborn baby who presented with respiratory distress and hepatosplenomegaly from birth and who succumbed from bronchopneumonia 20 days later. Autopsy examination showed generalized accumulation of foam cells in reticuloendothelial organs. The parenchymal cells of visceral organs as well as neurones in the central nervous system also showed cytoplasmic vacuolization. Electron microscopic study demonstrated characteristic intracytoplasmic electron-lucent membrane-bound bodies. The histologic and ultrastructural findings were similar to those described in the literature.