About The Medical Condition Spongy Disease of Central Nervous System
Find the definition of the medical term Spongy Disease of Central Nervous System. Spongy Disease of Central Nervous System defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Spongy Disease of Central Nervous System
| Spongy Disease of Central Nervous System Medical Condition |
|---|
What's The Definition Of The Medical Condition Spongy Disease of Central Nervous System?
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)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Religious Belief ‐ A set of beliefs concerning the nature, cause, and purpose of…
- Cardiac Ruptures ‐ Laceration or tearing of the walls of the heart, of the interatrial…
- Tyrosine Hydroxylase ‐ An enzyme that catalyzes the conversion of L-tyrosine, tetrahydrobiopterin,…
- Achondroplasia ‐ An autosomal dominant disorder that is the most frequent form…
- Ticks ‐ Blood-sucking acarid parasites of the order Ixodida comprising…
- Benign Hepatomas ‐ A benign epithelial tumor of…
- Deficiency, Vitamin B6 ‐ A nutritional condition produced by a deficiency of VITAMIN B…
- Hyposensitization Therapies ‐ Immunosuppression by the administration of increasing doses of…
- Psychological Models ‐ Theoretical representations that simulate psychological processes…
- Anhydrous Tolmetin Sodium ‐ A non-steroidal anti-inflammatory agent (ANTI-INFLAMMATORY AGENTS,…