Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
9368447 | Anales de Pediatría | 2005 | 5 Pages |
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.
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Authors
J. Mallo Castaño, L. Castañón López, B. Herrero Mendoza, B. Robles GarcÃa, F. Goded Rambaud,