Neuropediatrics 2011; 42(2): 71-73
DOI: 10.1055/s-0031-1277177
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Refractory Focal Epilepsy in a Patient with Methylmalonic Aciduria: Case Report on Positive and Long-lasting Effect of Rufinamide

C. von Stülpnagel1 , M. Leichsenring2 , A. Müller1 , M. Staudt1 , 3 , G. Kluger1
  • 1Schön Klinik Vogtareuth, Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Centre for Children and Adolescents, Vogtareuth, Germany
  • 2University of Ulm, Children's Hospital, Centre of Metabolic Diseases and Cystic Fibrosis, Ulm, Germany
  • 3Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany
Further Information

Publication History

received 04.01.2011

accepted 10.04.2011

Publication Date:
05 May 2011 (online)

Abstract

We report on a 5-year-old boy with methylmalonic aciduria, an autosomal recessive inborn error of metabolism leading to accumulation of methylmalonic-CoA and thereby causing intoxication with leading symptoms of hyperammonaemia and metabolic acidosis. Hyperammonemia itself causes brain oedema. In our patient, this led to a vast metabolic stroke of the left hemisphere and subsequent pharmacoresistant epilepsy. Guided by his main seizures – drop attacks – the orphan drug rufinamide (RUF) was introduced as “off-label use” and led to freedom of drop attacks and tonic-clonic seizures over a period of 14 months as well as normalisation of the electroencephalogramm. Only once during an episode of fever and diarrhoea with reduced level of RUF did some provoked seizures with focal complex semiology for the time period of infection occur. In the 16 months follow-up, the patient also improved in his development, showing a more stable gait with the hemiparesis and understanding more complex sentences.

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Correspondence

Celina von Stülpnagel

Schön Klinik Vogtareuth

Hospital for Neuropediatrics

and Neurological Rehabilitation

Epilepsy Centre for Children

and Adolescents

Krankenhausstraße 20

83569 Vogtareuth

Germany

Phone: +49/8038/901 411

Fax: +49/8038/903 411

Email: celina1@gmx.de

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