We report the clinical, electroencephalo-graphic and neuroradiologic findings of a patient with supernumerary der(22) syndrome-partial 22 trisomy, derived from a (11;22) maternal translocation-and a wide spectrum of cerebral malformation. Magnetic resonance study evidenced a partial midline defect (hypoplasia of the corpus callosum, mild dilatation of the mid portion of the occipital horn of the lateral ventricles and a mild enlargement of the frontal horns) and a malrotation of the body and the tail of both hippocampi, which present a vertical position. This patient was severely mentally retarded and he was affected by drug-resistant focal epilepsy: the seizures were of fronto-temporal origin with possible secondary generalization. The electroencephalographic studies showed a pattern similar to that observed in other cortical malformations. About 30% of the patients with der(22) have cerebral malformation but none presents an hippocampal malrotation. Moreover, this defect seems to be linked to the epilepsy.
Hippocampal malrotation in supernumerary der(22) syndrome and epilepsy: a case report
CIRILLO, Margherita
2003-01-01
Abstract
We report the clinical, electroencephalo-graphic and neuroradiologic findings of a patient with supernumerary der(22) syndrome-partial 22 trisomy, derived from a (11;22) maternal translocation-and a wide spectrum of cerebral malformation. Magnetic resonance study evidenced a partial midline defect (hypoplasia of the corpus callosum, mild dilatation of the mid portion of the occipital horn of the lateral ventricles and a mild enlargement of the frontal horns) and a malrotation of the body and the tail of both hippocampi, which present a vertical position. This patient was severely mentally retarded and he was affected by drug-resistant focal epilepsy: the seizures were of fronto-temporal origin with possible secondary generalization. The electroencephalographic studies showed a pattern similar to that observed in other cortical malformations. About 30% of the patients with der(22) have cerebral malformation but none presents an hippocampal malrotation. Moreover, this defect seems to be linked to the epilepsy.
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