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Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

✍ Scribed by Straussberg, Rachel; Kornreich, Liora; Harel, Liora; Varsano, Izhak

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 22 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981102)80:2<136::aid-ajmg9>3.0.co;2-5

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✦ Synopsis

We describe an infant who was born to a consanguineous couple of Palestinian origin. The patient had severe microcephaly, myoclonic seizures, hypsarrythmia, spasticity, hypertonicity, and profound mental retardation. A similar case was reported in another unrelated Palestinian family, suggesting that this condition may be endemic. The condition resembles early onset myoclonic seizures and spasticity described by Tolmie et al.:

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