Two siblings with cortical dysplasia: Clinico-electroencephalographic features

Pediatr Int. 2015 Jun;57(3):472-5. doi: 10.1111/ped.12509. Epub 2015 May 27.

Abstract

The older of two siblings began to have spasms and partial seizures at 1 month of age. Head magnetic resonance imaging showed an abnormal area in the left temporo-parieto-occipital region. Interictal electroencephalogram (EEG) showed a suppression-burst pattern. Adrenocorticotropic hormone stopped the spasms, but the seizures continued. Clonazepam, carbamazepine, zonisamide, and clobazam were ineffective. She underwent focal resection at age 8 months. Postoperatively, the seizures disappeared. Histopathologically, the lesion appeared to be focal cortical dysplasia type IIa. The younger sibling had spasms from birth. Head magnetic resonance imaging showed left hemi-megalencephaly. Interictal EEG showed a suppression-burst pattern. Phenobarbital, valproic acid, and zonisamide were ineffective. He underwent hemispherotomy at age 2 months and became seizure free. The histopathological features were consistent with those of hemi-megalencephaly. The siblings' EEG and clinical courses had some similarities. These siblings' conditions may have the same genetic background.

Keywords: cortical dysplasia; electroencephalogram; epileptic encephalopathy; hemi-megalencephaly; spasm.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Electroencephalography / methods*
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging / methods*
  • Male
  • Malformations of Cortical Development / complications
  • Malformations of Cortical Development / diagnosis*
  • Seizures / diagnosis
  • Seizures / etiology*
  • Siblings*