title: A case of GM1 gangliosidosis type I.
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.
authors.affiliation: Hospital de Santa Maria, Serviço de Pediatria, Lisboa, Portugal.
authors.forename: A
authors.initials: A
authors.lastname: Cabral
authors.forename: R
authors.initials: R
authors.lastname: Portela
authors.forename: T
authors.initials: T
authors.lastname: Tasso
authors.forename: F
authors.initials: F
authors.lastname: Eusébio
authors.forename: A
authors.initials: A
authors.lastname: Moreira
authors.forename: H M
authors.initials: HM
authors.lastname: dos Santos
authors.forename: J
authors.initials: J
authors.lastname: Soares
authors.forename: J F
authors.initials: JF
authors.lastname: Moura-Nunes
mesh_terms: D001706:Biopsy; D001847:Bone Diseases / Q000235:genetics; D004487:Edema / Q000150:complications; D005260:Female; D005677:G(M1) Ganglioside / Q000378:metabolism*; D005733:Gangliosidoses / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008445:Maxillofacial Development; D011596:Psychomotor Disorders / Q000235:genetics; D012867:Skin / Q000473:pathology
chemical_list: D005677:G(M1) Ganglioside