1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-2-59-a 10.15844/pedneurbriefs-2-8-4 Heredo-Degenerative Diseases Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Infantile Gangliosidosis http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 08 1988 01 08 2016 2 8 59 59 Copyright: © 1988 The Author(s) 1988 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Type 3 (chronic) GM1 gangliosidosis presenting as infanto-choreo-athetotic dementia, without epilepsy, in three sisters

Three sisters with infantile-onset 3 GM1 gangliosidosis are reported from the University of Siens, Italy, and the University of Louvain, Brussels, Belgium.

 Clinical Findings Lysosomal Vacuoles Oligosaccharides

Three sisters with infantile-onset 3 GM1 gangliosidosis are reported from the University of Siens, Italy, and the University of Louvain, Brussels, Belgium. The diagnosis was based on the clinical findings of progressive intellectual deterioration by age 6-8 years, ataxia, spastic tetraparesis, and athetoid-choreiform movements; lysosomal vacuoles in CSF, bone marrow, and conjunctiva; and on decreased activity of serum, leukocyte, and fibroblast B-D-galactosidase and abnormal urinary excretion of oligosaccharides. [1]

COMMENT. Gangliosidosis occurs in 3 forms: 1) infantile, characterized by Hurler's facial features, bony abnormalities, hepatoslenomegaly, cherry-red spot, and progressive neurological signs; 2) late infantile-juvenile, without skeletal changes or marked visceromegaly, but severe intellectual deterioration, ataxia, myoclonic seizures, and retinal degeneration; and 3) dystonic juvenile form. The clinical findings in the present report resembled those in the dystonic form except that the intellectual deterioration was more severe.

 Guazzi GC D'Amore I Van Hoof F Fruschelli C Alessandrini C Palmeri S Type 3 (chronic) GM1 gangliosidosis presenting as infanto-choreo-athetotic dementia, without epilepsy, in three sisters Neurology 1988 Jul 38 7 1124 1127 10.1212/WNL.38.7.1124 3133574