Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
A rare genetic central nervous system malformation syndrome characterized by congenital progressive microcephaly neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes variable dysmorphic facial features ophthalmological signs (cortical visual impairment nystagmus eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023
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Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome?
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