Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria

BMJ Case Rep. 2018 Jun 28:2018:bcr2018225059. doi: 10.1136/bcr-2018-225059.

Abstract

Pyridoxine (vitamin B6) is an essential vitamin playing a crucial role in amino acid metabolism. Pyridoxine is used for isoniazid side-effects prevention, pyridoxine-dependent epilepsy treatment and cystathionine beta-synthase deficiency (homocystinuria) treatment. However, vitamin B6 hypervitaminosis is neurotoxic and may provoke a progressive sensory neuronopathy (sensory ganglionopathy), usually when daily uptake is above 50 mg. We describe the case of a 30-year-old patient with homocystinuria who was treated with pyridoxine 1250-1750 mg/day for 20 years and developed progressive sensory neuropathy with ataxia and impaired sensation in the extremities. Electrodiagnostic testing demonstrated non-length-dependent abnormalities of sensory nerve potentials, and sensory ganglionopathy was diagnosed. Pyridoxine dosage was reduced to 500 mg/day, resulting in the disappearance of sensory symptoms and ataxia, and the normalisation of sensory nerve potentials. Our case indicates that pyridoxine-induced sensory ganglionopathy may be reversible, even after prolonged ingestion of high doses of vitamin B6 for more than 20 years.

Keywords: contraindications and precautions; peripheral nerve disease; vitamins and supplements.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ataxia / chemically induced*
  • Ataxia / physiopathology
  • Dose-Response Relationship, Drug
  • Epilepsy / drug therapy*
  • Female
  • Homocystinuria / drug therapy*
  • Humans
  • Polyneuropathies / chemically induced*
  • Polyneuropathies / physiopathology
  • Pyridoxine / administration & dosage
  • Pyridoxine / adverse effects*
  • Recovery of Function / physiology*
  • Substance-Related Disorders
  • Treatment Outcome
  • Vitamins / administration & dosage
  • Vitamins / adverse effects*

Substances

  • Vitamins
  • Pyridoxine

Supplementary concepts

  • Pyridoxine-dependent epilepsy