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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » Study Papers » Descriptive Studies - Without a comparision » Case Report Study » Other - complex IV respiratory chain deficiency

Other - complex IV respiratory chain deficiency

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1. Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency

This case report discusses a case of neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency

Abstract:

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 more...

International Classification:

Other - complex IV respiratory chain deficiency

Categories:

liver-specific complex IV respiratory chain deficiency

Geography:

Republic of Ireland

Eur J Paediatr Neurol, Vol: 8 Page: 55-9 2004
M. A. Kurian; E. S. O'Mahoney; P. Rustin; G. Brown; E. P. Treacy; M. D. King

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