RESUMO
OBJECTIVE AND IMPORTANCE: To describe Leigh's disease in 3 sibs of a Kuwaiti family. CASE PRESENTATION: Two brothers presented in early infancy with progressive neurological symptoms of hypotonia, delayed milestones and brisk reflexes. Investigations revealed metabolic acidosis, high serum and cerebrospinal fluid lactate. Magnetic resonance imaging (MRI) showed characteristic changes of Leigh's disease. The 3rd brother, who was asymptomatic initially, was investigated because of his family history and was found to have similar changes. INTERVENTION: All children developed progressive neurological deterioration and persistent metabolic lactic acidosis, which was treated with sodium bicarbonate, and the 1st patient needed renal dialysis to control the acidosis. The 2nd child was placed on vitamins and carnitine. CONCLUSION: The neurological deterioration was progressive in all 3 sibs, and they eventually died of respiratory failure despite ventilatory support. Since MRI changes are characteristic, MRI should be done to confirm the diagnosis.
