Neuropediatrics 2006; 37 - THP22
DOI: 10.1055/s-2006-945845

CATASTROPHIC EPILEPSY IN PATIENTS WITH INFANTILE ONSET SPINOCEREBELLAR ATAXIA (IOSCA), A NUCLEAR MITOCHONDRIAL DISORDER

T Lonnqvist 1, A Paetau 1, H Pihko 1
  • 1Helsinki University Central Hospital, Helsinki, Finland

Objectives: IOSCA (infantile onset spinocerebellar ataxia) is a recessive disease caused by a defect in mitochondrial DNA helicase twinkle. We want to share our experience of different aspects of the catastrophic brain events these patients have with increasing age.

Methods: We have clinical follow-up data of 22 IOSCA patients diagnosed by us since 1985. In addition to clinical findings, we present MRI, EEG and neuropathological data.

Results: Eleven patients have had acute episodes of epigastric pain, vomiting, restlessness and treatment resistant seizures followed by unconsciousness. Recovery after these episodes is takes weeks to months. Six patients have died during these episodes. An oedemic change, which may progress into cortical necrosis, is seen in MRI.

Conclusion: IOSCA belongs to the new and expanding group of disorders caused by a defect of mitochondrial maintenance. We want to discuss the treatment, etiology and neuropathological aspects of this disease.