Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.

[pyruvate dehydrogenase deficiency]

Pyruvate dehydrogenase deficiency is one of the most common causes of encephalopathy associated with lactic acidosis and is known to account for congenital lactic acidosis , recurrent ataxia , and infantile Leigh syndrome . Hitherto , however , peripheral neuropathy has not been regarded as a presenting symptom of pyruvate dehydrogenase deficiency . Here , we report on a boy who presented peripheral neuropathy with severe limb hypotonia , absent deep -tendon reflexes , and reduced motor nerve conduction velocities at 8 months of age . Persistent hyperpyruvicemia with normal lactate /pyruvate molar ratios in plasma were highly suggestive of a pyruvate dehydrogenase deficiency , and the determination of pyruvate dehydrogenase activity in circulating lymphocytes led to the diagnosis of pyruvate decarboxylase (PDH -E 1 ) deficiency in the proband . Based on this observation , we suggest that pyruvate dehydrogenase deficiency should be considered in the diagnosis of peripheral neuropathy in infancy , especially when associated with persistent hyperpyruvicemia , normal lactate /pyruvate molar ratios in plasma , and recurrent episodes of drowsiness and hypotonia of unknown origin .

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Diseases presenting "and the determination of pyruvate dehydrogenase activity in circulating lymphocytes led to the diagnosis of pyruvate decarboxylase" symptom

pyruvate dehydrogenase deficiency

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