Open AccessINFANTILE GM 1 ‐GANGLIOSIDOSIS WITH MARKED MANIFESTATION OF LUNGS
Author(s) -
Matsumoto Toshiharu,
Matsumori Hideaki,
Taki Takushi,
Takagi Toshitaka,
Fukuda Yoshiro
Publication year - 1979
Publication title -
acta patholigica japonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
ISSN - 0001-6632
DOI - 10.1111/j.1440-1827.1979.tb03181.x
Subject(s) - pathology , gangliosidosis , ganglioside , spleen , disease , medicine , biology , biochemistry
GM 1 ‐gangliosidosis is a disease characterized by abnormal accumulation of GM 1 ‐ganglioside in the brain and viscera. The disease is characterized by clinical findings similar to Hurler's disease and pathologic features resembling Niemann‐Pick's disease but with involvement of the glomerular epithelium. A 14‐month‐old boy, clinically diagnosed as GM 1 ‐gangliosidosis, died of respiratory insufficency and was autopsied except for the brain. Biochemically, marked increase of GM‐ganglioside in the viscera was demonstrated. Pathologically, the foam cells were present in the viscera. Some parts of the cytoplasmic vacuoles in the lungs and spleen contained osmiophilic fibrillar material electron‐microscopically. This case was characterized by marked accumulation of foam cells in the pulmonary alveolar spaces.