, Volume 7, Issue 6, pp 615-619
Date: 06 Dec 2004

Burden of Proof in the Postmortem Diagnosis of Mitochondrial Disease: Leigh Disease

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This male infant weighed 6 lb 12 oz after a full-term pregnancy. At age 2 to 3 months, he had been diagnosed with hypertrophic cardiomyopathy, hypotonia, lactic acidosis, and poor control of oral feeds. He had gastroesophageal reflux and subsequently required nasogastric tube feeds. Gastrostomy button, fundoplication, and a left thigh muscle biopsy were performed. The biopsy showed features “suggestive of” a mitochondrial myopathy, and subsequent mitochondrial enzyme analyses showed decreased activities in complexes I through IV that approached statistical significance but were not quite at 2 standard deviations below the normal reference mean. Ophthalmologic examination was normal, and magnetic resonance imaging of the head was normal except for extra axial fluid collections.

He was unable to sit alone and was not crawling. He spoke a few intelligible words. He had global hypotonia with absent deep tendon reflexes. Chest radiograph demonstrated marked cardiomegaly with norm