| Literature DB >> 11407166 |
R K Marwaha, P Singh, A Trehan.
Abstract
The brief communication describes a 2-year-old child who presented with delayed achievement and regression of milestones, seizures of multiple types, exaggerated response to sound, inability to see and bilateral cherry red spots. In addition to these typical manifestations of the late infantile variety of Tay-sachs disease, unilateral ptosis was present. The magnetic resonance imaging of brain revealed abnormalities consistent with an advanced stage of the disease.Entities:
Mesh：
Year: 2001 PMID： 11407166 DOI： 10.1007/bf02723030
Source DB: PubMed Journal: Indian J Pediatr ISSN： 0019-5456 Impact factor: 1.967