Article
Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2004
Kurian M A, O'Mahoney E S, Rustin P, Brown G, Treacy E P, King M D
Abstract excerpt
An eight-week-old infant, the fourth child of consanguineous parents presented with intractable neonatal seizures. The mother had two previous miscarriages. The infant initially presented on day one with multifocal myoclonus, complex partial and generalised tonic-clonic seizures. On examination, there were dysmorphic hands and feet, with absent nails and terminal phalanges of the fingers and toes, hepatomegaly,...
Topics
- Abnormalities, Multiple
- Consanguinity
- Craniofacial Abnormalities
- Cytochrome-c Oxidase Deficiency
- DNA Mutational Analysis
- Developmental Disabilities
- Diagnosis, Differential
- Electron Transport Complex IV
- Epilepsies, Myoclonic