Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?

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Abstract
An adult male presented to the clinical genetics service for predictive testing. His past medical history was complex. He was the second of twins, born at term (36 weeks) following an uncomplicated pregnancy, and weighed 2300 g. His early development did not cause any concern, but when he achieved independent walking at 18 months, this was slow and awkward. He was noted to have a mild left hemiparesis, the cause of which was not clarified until later. He had no major illnesses as a child and attended normal school with average achievements, although he did less well than his twin sister. At 12 years of age he presented with focal left sided seizures and a CT brain scan showed underdevelopment of the right cerebral hemisphere and hypoplasia of the wing of the sphenoid. He was informed at this stage that a possible diagnosis was neurofibromatosis type 1 and he received anticonvulsant treatment, which was partially effective.

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