We report a case of GM2 gangliosidosis revealed by MR imaging of an isolated brain stem
abnormality in a 3-year-old girl referred for gait difficulties related to ataxia and pyramidal …

Two unrelated children and their siblings of Arab origin were diagnosed as having GM1
gangliosidosis on the basis of clinical features and markedly low levels of β-galactosidase …

GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by
defects in the enzyme β-galactosidase. Three clinical forms (infantile-, juvenile-, and adult …

Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental
deterioration and progressive spastic, cerebellar, and extrapyramidal signs, without facial …

An 11-year-old Japanese girl was diagnosed as having type 3 GM1 gangliosidosis by
clinical symptoms and enzyme assay. She was the youngest among the patients with type 3 …

Özdemir Kara D, Şahpaz A. Pathological findings of central nervous system, two GM1
gangliosidosis autopsy cases. Turk J Pediatr 2019; 61: 953-957. GM1 gangliosidosis is an …

DISCUSSION Infantile GM1 gangliosidosis is a rare autosomal-recessive lysosomal storage
disorder caused by a deficiency of lysosomal β-galactosidase, which results in neural and …

A 9‑month‑old male child, born of non‑consanguineous parents, who was well for the first 6
months, presented with progressive deterioration of milestones. The birth history was …

Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical
features of seizure and progressive motor and mental retardation without facial …

Adult‐onset GM2 gangliosidosis is very rare and only three autopsy cases have been
reported up to now. We report herein an autopsy case of adult‐onset GM2 gangliosidosis …