Article ID Journal Published Year Pages File Type
9368447 Anales de Pediatría 2005 5 Pages PDF
Abstract
Leigh disease is a clinically heterogeneous and infrequent disorder in the pediatric age group. Inheritance is variable. It results from a genetic defect producing deficiencies in enzyme complexes and functional disturbance of the mitochondria. The prognosis is poor and effective treatment is lacking. We present the case of a 1-month-old boy with early manifestation and rapid progression of Leigh disease due to deficiency of mitochondrial respiratory chain complexes I, III and IV.
Related Topics
Health Sciences Medicine and Dentistry Perinatology, Pediatrics and Child Health
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