SPONGY DISEASE OF WHITE MATTER
\spˈʌnd͡ʒi dɪzˈiːz ɒv wˈa͡ɪt mˈatə], \spˈʌndʒi dɪzˈiːz ɒv wˈaɪt mˈatə], \s_p_ˈʌ_n_dʒ_i d_ɪ_z_ˈiː_z ɒ_v w_ˈaɪ_t m_ˈa_t_ə]\
Sort: Oldest first
-
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)
By DataStellar Co., Ltd
Word of the day
SQ10,643
- A serotonin antagonist with limited antihistaminic, anticholinergic, and immunosuppressive activity.