Article
GM1 gangliosidosis type 2 in two siblings.
Journal of child neurology - 1 Apr 1992
Gascon G G, Ozand P T, Erwin R E
Abstract excerpt
A sister and brother, now aged 7 and 9 years, presented with developmental arrest, gait disturbance, dementia, and a progressive myoclonic epilepsy syndrome with hyperacusis in the second year of life. Then, spastic quadriparesis led to a decerebrate state. In the absence of macular or retinal de...
Topics
- Biopsy
- Bone Marrow
- Brain Diseases, Metabolic
- Child
- Epilepsies, Myoclonic
- Female
- Gangliosidosis, GM1
- Humans
- Male
- Neurologic Examination
- Phenotype