Type III (chronic) GM1-gangliosidosis. Histochemical and ultrastructural studies of rectal biopsy

Type III GM1-gangliosidosis is a rare hereditary storage disease caused by lack of lysosomal beta-galactosidase and characterized by a slowly progressive course, and extrapyramidal signs, but without prominent skeletal changes or visceromegaly. The storage substance was reported to be located only in the basal ganglia. There has been no detailed report on visceral lesions in type III GM1-gangliosidosis. In this report we describe a case of type III GM1-gangliosidosis, and the histochemical and ultrastructural findings from biopsied rectum. The patient was a 22-year-old female who exhibited dysarthria, gait disturbance, and generalized dystonia with rigidity. Beta-galactosidase activity in leukocytes was absent and sialidase activity in cultured fibroblasts was normal. Many histiocytes were found in biopsied rectal mucosa. Histochemical studies showed that the granules of histiocytes contained acidic glycoconjugates, beta-galactose, beta-N-acetylgalactosamine and sialic acid. Ultrastructural investigations revealed that ganglion cells of Meissner's plexus had many osmiophilic lamellar inclusions, similar to "membranous cytoplasmic bodies". These findings are crucial for the clinical diagnosis of type III GM1-gangliosidosis.