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Type A Niemann–Pick disease
Author(s) -
Raddadi Ali A,
Al Twaim Abdulaziz A
Publication year - 2000
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1046/j.1468-3083.2000.00095.x
Subject(s) - hepatosplenomegaly , niemann–pick disease , mononuclear phagocyte system , spleen , bone marrow , pathology , lymph , disease , lysosomal storage disease , medicine , sphingomyelin , histiocyte , biology , immunology , cholesterol
Niemann–Pick disease (NPD) represents a type of lysosomal storage diseases in which sphingomyelin accumulates in the histocytes and reticuloendothelial cells of the spleen, liver, lymph nodes, bone marrow and central nervous system. We report a child with massive hepatosplenomegaly, lymphadenopathy, mental retardation and widespread papulonodular lesions. His clinical features conform to the type A subgroup of NPD.