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

Abstract

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.: Am J Med Genet 27:583-594 [1987]. To the best of our knowledge, only four pairs of sibs have been described with this syndrome; however, to date no magnetic resonance imaging (MRI) findings were reported for this condition. We present the clinical and radiological findings in the patients, including the first report of MRI findings.

Association of epilepsy with different groups of microcephaly

“…Unfortunately, we did not come across with any cases of MC like those in the fourth group of Tolmie and colleagues (1987). This may be because of the scarcity of participants with only five families being described in the literature until now (Straussberg et al 1998). We suppose that the non-specific group described by Tolmie and coworkers (1987) could be considered as MMC.…”