Article

Hereditary hypertrophic neuropathy combining features of tic douloureux, Charcot-Marie-Tooth disease, and deafness

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Abstract

Hereditary hypertrophic sensorimotor polyneuropathy combining the features of Charcot-Marie-Tooth disease, trigeminal neuralgia, and deafness occurred through four generations of a family originating in Haywood County, North Carolina. Fourteen individuals had pes cavus, distal muscle atrophy, depressed or absent muscle stretch reflexes, cutaneous sensory deficits, and defective proprioception. Six family members had recurrent, lancinating, trigeminal pain, and seven were deaf. The family was brought under scrutiny when the propositus, a 60-year-old woman, was examined for treatment of tic douloureux. Neurologic information was ultimately obtained regarding 52 family members. No history of consanguinity could be ascertained within this kinship. The genealogy of the family we studied is presented in Figure 1. In addition to clinical neurologic examinations, electromyographic and nerve conduction studies were obtained on those individuals indicated in the genealogy diagram. Audiometric studies were obtained when there was clinical indication of defective hearing. Quantitative cutaneous sensory testing was obtained in the propositus.

Case reports

Case 1. This 60-year-old woman, complaining of facial pain, was examined in October 1975. Pes cavus was present from childhood and she admitted a slowly progressive disturbance of gait throughout her life. She first experienced left maxillary division tic douloureux at age 41. Recurrent and progressively severe facial pain was treated unsuccessfully with numerous medications, peripheral nerve blocks, and acupuncture. In 1962 she underwent intracranial section of the maxillary division of the left fifth cranial nerve. Surgical procedure produced anesthesia in her face in an appropriate distribution, but relief of pain was only temporary, and tic douloureux . . .


 

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