Nota Clínica

Heterotopia as the cause of seizures. A case report of familial periependymal heterotopia

E. Navarro-Cantarero, J.I. Pina-Leita, R. Lasierra-Díaz [REV NEUROL 2005;41:86-90] PMID: 16028186 DOI: https://doi.org/10.33588/rn.4102.2004206

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Volumen 41 | Number 02 | Nº of views of the article 52.305 | Nº of PDF downloads 568 | Article publication date 16/07/2005

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ABSTRACT

INTRODUCTION Cortical development disorders constitute a group of entities resulting from an interruption in the development of the central nervous system. Most of them derive from the stoppage of migration, but proliferation and organisation can also be affected. Heterotopia is the most frequent of all migration disorders. CASE REPORTS. We describe three cases of familial periependymal heterotopia consisting in three sisters who, after having seizures in infancy, were submitted to a magnetic resonance (MR) scan that revealed isotense nodules in the cortical grey matter in all the MR sequences. They were diagnosed as having periependymal heterotopia. The existence of a history of early onset seizures in the family of the mother supported the diagnosis of familial heterotopia.

CONCLUSIONS Heterotopia is the most frequently occurring anomaly affecting cortical development and, of these, the periependymal form is the most common. Periependymal heterotopia may be determined by sex-linked inheritance (X chromosome). It is considered to be one of the most common congenital disorders in familial and early onset epilepsy. MR is the preferred diagnostic technique, since its high resolution allows it to identify and characterise heterotopias. KeywordsBand heterotopia Cortical development anomalies Epilepsy Heterotopia Subcortical heterotopia Subependymal heterotopia CategoriesEpilepsias y síndromes epilépticos

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Heterotopia as the cause of seizures. A case report of familial periependymal heterotopia