Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy

Hirschowitz et al. (1972) described 3 sisters, from a sibship of 6, who had progressive nerve deafness beginning at ages 8, 3 and 9 years and becoming complete or nearly complete by ages 10, 5 and 18 years, respectively. Vestibular function remained normal. Progressive sensory neuropathy without peripheral trophic changes was also present. Tachycardia and loss of the carotid sinus reflex may indicate involvement of the cardiac vagus. Involvement of the vagus nerve led to progressive loss of gastric motility. Two of the sisters were demonstrated to have multiple diverticula with jejunoileal ulceration from which the eldest sister died at age 18 years. Malabsorption of fat and intestinal loss of serum protein occurred. A surviving sister had marked acanthosis nigricans. Potasman et al. (1985) reported 2 sisters with the same or a similar disorder. The parents were first cousins. Peripheral nerve biopsy showed demyelinization. The patients died at ages 31 and 20 years, their disorder having manifested itself at age 24 and 13 years, respectively. This appears to be an entity distinct from others such as Refsum syndrome (266500) and hereditary sensory radicular neuropathy (162400). Igarashi et al. (1981) demonstrated cochleosaccular degeneration as the cause of deafness in 1 of the 3 sisters reported by Hirschowitz et al. (1972).