Spongiform leukodystrophy

Introduction: Spongiform leukodystrophy

Description of Spongiform leukodystrophy

Spongiform leukodystrophy: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
Source: Diseases Database

Spongiform leukodystrophy: Related Topics

These medical condition or symptom topics may be relevant to medical information for Spongiform leukodystrophy:

• Spongiform
• Leukodystrophy

Terms associated with Spongiform leukodystrophy:

Terms Similar to Spongiform leukodystrophy:

• Aspartoacylase deficiency
• Canavan van Bogaert-Bertrand disease

Source: Diseases Database

External links related to: Spongiform leukodystrophy

• spongy degeneration (Canavan disease)
• Canavan disease - MedPix™ Medical Image Database and Teaching Files
• Canavan's disease (www.whonamedit.com)
• OMIM - CANAVAN DISEASE
• Canavan disease - Genetics Home Reference
• Canavan Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
• Canavan's disease - MedPix™ Medical Image Database and Teaching Files
• GeneReviews: Canavan Disease

Source: Diseases Database

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