SPONGY DISEASE OF CENTRAL NERVOUS SYSTEM
\spˈʌnd͡ʒi dɪzˈiːz ɒv sˈɛntɹə͡l nˈɜːvəs sˈɪstəm], \spˈʌndʒi dɪzˈiːz ɒv sˈɛntɹəl nˈɜːvəs sˈɪstəm], \s_p_ˈʌ_n_dʒ_i d_ɪ_z_ˈiː_z ɒ_v s_ˈɛ_n_t_ɹ_əl n_ˈɜː_v_ə_s s_ˈɪ_s_t_ə_m]\
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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)
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Nearby Words
- spongy
- spongy body
- spongy bone
- spongy bone substance
- spongy degeneration of infancy
- Spongy Disease of Central Nervous System
- spongy disease of white matter
- spongy granula'tion's
- spongy iritis
- spongy osseous substance
- spongy parenchyma