Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

Roeleveld-Versteegh AB; Braun KP; Smeitink JA; Dorland L; de Koning TJ

Journal Of Inherited Metabolic Disease

2004

Child; Humans; Male; Siblings; Fatal Outcome; Preschool; infant; Q3 Literature Search; Bulbar Palsy; Mitochondrial Diseases/complications/diagnosis; Progressive/diagnosis/etiology

We report two siblings with a mitochondrial respiratory chain defect who presented with progressive bulbar paralysis of childhood (Fazio-Londe disease). Mitochondrial respiratory chain defects should be considered in differential diagnosis of this rare clinical entity.

2004

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Journal Article

Backlog