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

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

Peripheral neuropathy: the importance of history and examination for

correct diagnosis.

JJ.

Department of Neurology, The Washington University Medical

Center, Washington, DC.

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.