Ophthalmic paediatrics and genetics 1989-Mar
A case of GM1 gangliosidosis type I.
Only registered users can translate articles
Log In/Sign up
The link is saved to the clipboard
Keywords
Abstract
A six-month-old female gypsy child, the daughter of second degree cousins, born after a full-term pregnancy and normal delivery, is described. There was generalized neonatal edema. Abnormalities included psychomotor retardation from birth and progressive appearance of facial dysmorphism, organ enlargement, axial hypotonia, hypertonia in limbs, myoclonic jerks, optic atrophy and bilateral cherry-red spots. The diagnosis of GM1 type 1 gangliosidosis was confirmed by biochemical, enzymatic and ultrastructural findings.