Respiratory chain complex I deficiency in an infant with Ohtahara syndrome.

Servicio de Neuropediatría, Hospital Clínico Universitario, Facultad de Medicina, Universidad de Santiago de Compostela, La Choupana s/n, 15706 Santiago de Compostela, Spain. pdcastro@usc.es

We report an infant with complex I deficiency of the mitochondrial respiratory chain whose most conspicuous symptom at presentation was an Ohtahara syndrome. Review of the literature suggest that association of these two conditions is extremely rare. Despite the few cases reported, in our view Ohtahara syndrome should be considered as one of the forms of presentation of mitochondrial dysfunction.

PMID: 18617342 [PubMed - indexed for MEDLINE]