Peripheral neuropathy: the importance of history and examination for correct diagnosis

Rev Neurol Dis. 2005 Summer;2(3):150-3.

Abstract

A 48-year-old woman presented to the emergency department with hematemesis and a 6-month history of unsteady gait and falls due to tripping. Because of a history of alcohol abuse, the initial diagnosis was upper gastrointestinal bleeding secondary to alcoholic gastritis or gastric ulcer, with the neuropathy likely due to alcoholism or chronic inflammatory demyelinating polyneuropathy. After further neurological examination and careful review of nerve conduction studies, however, an inherited neuropathy was suspected. Despite denial by the patient and her daughter of a family history of neuropathy, both had a pes cavus deformity with muscle atrophy and partial foot drop gait. Subsequent testing of the daughter revealed the same nerve conduction findings as the patient's. Genetic testing showed that both women had the myelin PMP22 repeat defect characteristic of Charcot-Marie-Tooth disease. Endoscopy revealed that the patient had Osler-Weber-Rendu disease, which accounted for the hematemesis.

Publication types

  • Case Reports

MeSH terms

  • Alcoholism / complications
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / physiopathology
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Diagnostic Errors / prevention & control*
  • Female
  • Foot Deformities / genetics
  • Foot Deformities / pathology
  • Foot Deformities / physiopathology
  • Gait Disorders, Neurologic / genetics
  • Gait Disorders, Neurologic / pathology
  • Gait Disorders, Neurologic / physiopathology
  • Genetic Testing
  • Hematemesis / etiology
  • Humans
  • Middle Aged
  • Muscular Atrophy / genetics
  • Muscular Atrophy / pathology
  • Muscular Atrophy / physiopathology
  • Mutation / genetics
  • Myelin Proteins / genetics
  • Neurologic Examination / standards
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology*
  • Telangiectasia, Hereditary Hemorrhagic / complications

Substances

  • Myelin Proteins
  • PMP22 protein, human