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Peripheral nerve involvement in classic homocystinuria: an unusual association

Miguel Oliveira Santos1, Ruth Geraldes2, Isabel Conceição1

  • 1Department of Neurology, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal Institute of Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Portugal.

BMJ Case Reports
|September 30, 2016
PubMed

Insights

Classic homocystinuria, a genetic disorder causing high homocysteine levels, can lead to stroke and sensorimotor neuropathy. Treatment with pyridoxine and a methionine-restricted diet improved neurological symptoms and nerve function in a young patient.

Area of Science:

  • Medical Genetics
  • Neurology
  • Metabolic Disorders

Background:

  • Classic homocystinuria is a common inherited disorder causing hyperhomocysteinemia due to cystathionine β-synthase deficiency.
  • Central nervous system manifestations are well-documented, but peripheral neuropathy association is less understood.

Purpose of the Study:

  • To report a case of classic homocystinuria presenting with ischemic stroke and sensorimotor neuropathy.
  • To highlight the potential for peripheral nerve improvement with treatment.

Main Methods:

  • Case report of an 18-year-old male diagnosed with classic homocystinuria (CBS mutation Thr191Met).
  • Clinical evaluation including neurophysiological studies (nerve conduction).
  • Treatment involved pyridoxine and a methionine-restricted diet.

Main Results:

  • The patient experienced an ischemic stroke and sensorimotor neuropathy.
  • After 12 months of treatment, significant clinical and metabolic improvement was observed.
  • Neurophysiological re-evaluation showed improvement in peripheral nerve lesions.

Conclusions:

  • This case suggests a possible association between classic homocystinuria and peripheral neuropathy.
  • Treatment of hyperhomocysteinemia may lead to recovery of peripheral nerve function.
  • Further research is warranted to explore this association.

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