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Journal of Pediatric Neurology 2003; 01(01): 039-042
DOI: 10.1055/s-0035-1557168
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Hippocampal malrotation in supernumerary der(22) syndrome and epilepsy: a case report

Piernanda Vigliano
1   Child Neuropsychiatry, Martini Hospital, Turin, Italy
,
Sergio Duca
2   Neuroradiology Department, Koelliker Hospital, Turin, Italy
,
Annalisa Isocrono
3   Department of Pediatric and Adolescence Sciences, University of Turin, Italy
,
Margherita Silengo
3   Department of Pediatric and Adolescence Sciences, University of Turin, Italy
› Author Affiliations
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Publication History

25 March 2003

17 June 2003

Publication Date:
29 July 2015 (online)

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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).

Keywords

epilepsy - hippocampal malrotation - supernumerary der(22)