Affiliations: Child Neuropsychiatry, Martini Hospital, Turin, Italy
| Neuroradiology Department, Koelliker Hospital, Turin,
Italy | Department of Pediatric and Adolescence Sciences,
University of Turin, Italy
Abstract: We report the clinical, electroencephalographic 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 drugresistant 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. (J Pediatr Neurol 2003; 1(1):
39–42).
