Infantile Sandhoff's disease with peripheral neuropathy.

Abstract

Sandhoff's disease is a rare autosomal-recessive disorder of sphingolipid metabolism that results from a deficiency of lysosomal enzyme beta-hexosaminidase A and B. The resultant accumulation of GM2 gangliosides within both grey matter and the myelin sheath of white matter results in essential, severe neurodegeneration. We describe a 14-month-old boy with seizures and severe neurodegeneration. His diagnosis was confirmed by neuroimaging and enzyme assay. In addition to the classic features of Sandhoff's disease, the child's clinical features were suggestive of neuropathy as supported by nerve conduction studies indicating that the bilateral median, ulnar, and common peroneal nerves were affected. Peripheral nervous system involvement is not consistently observed in infantile Sandhoff's disease, prompting us to report this case.

• Authors: Anuj Jain, Ashok Kohli, Deepak Sachan
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 42 Issue 6 Pg. 459-61 (Jun 2010) ISSN: 1873-5150 [Electronic] United States
• PMID: 20472204 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2010 Elsevier Inc. All rights reserved.

Topics

• Electrodiagnosis
• Humans
• Infant
• Male
• Nerve Degeneration (complications, pathology, physiopathology)
• Neural Conduction (physiology)
• Peripheral Nervous System Diseases (complications, pathology, physiopathology)
• Sandhoff Disease (complications, pathology, physiopathology)
• Seizures (complications, pathology, physiopathology)