Síndrome de Leigh: relato de caso

Abstract

The authors describe for the first time in the Country a case of a 10-year-old female child, assisted at the Ophthalmology Clinic of the Hospital Universitário Clementino Fraga Filho - UFRJ, with Leigh’s syndrome that is part of a metabolic disease group known as mitochondrial encephalomyopa- thies. It is an hereditary disease transmitted by a different mode of inheritance: mitochondrial, X- linked recessive and autosomal recessive. The beginning of clinical manifesta- tions is varied and occurs usually in the first two years of life, with progressive and insidious evolution and exacerbation periods. Diagnosis is difficult because pleomorphic presen- tation, based on clinical findings and complementary study related to mitochondrial production of ATP and cytochrome c oxidase deficiencies. Considering that there is no specific treatment, this is based on a palliative procedure. So, the identification of this syndrome is very important to keep it under control, since its evolution is progressive.