title: Ptosis in late infantile Tay-Sachs disease.
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.
authors.affiliation: Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.lastname: Devidayal
authors.forename: R K
authors.initials: RK
authors.lastname: Marwaha
authors.forename: P
authors.initials: P
authors.lastname: Singh
authors.forename: A
authors.initials: A
authors.lastname: Trehan
mesh_terms: D001479:Basal Ganglia / Q000473:pathology; D001763:Blepharoptosis / Q000209:etiology*; D002675:Child, Preschool; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013661:Tay-Sachs Disease / Q000150:complications*; D013788:Thalamus / Q000473:pathology