Rare Diseases Symptoms Automatic Extraction

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-E1) 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.

Diseases presenting "peripheral neuropathy" symptom

  • adrenomyeloneuropathy
  • esophageal squamous cell carcinoma
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • kallmann syndrome
  • krabbe disease
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • triple a syndrome
  • waldenström macroglobulinemia
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated