Richards-Rundle Syndrome

Clinical Features

Richards and Rundle (1959) described a family in which 5 of 13 offspring of a marriage of first cousins once removed had mental retardation, underdevelopment of secondary sex characteristics, deafness, ataxia, and peripheral muscle wasting. The onset of deafness and ataxia was in early infancy, and all were mute. Laboratory studies showed increased urinary excretion of beta-aminoisobutyric acid (see 210100), and low urinary excretion of neutral 17-ketosteroids. The condition progressed in childhood but eventually became static. Richards and Rundle (1959) found in the literature a description of a brother and sister who probably had the same condition (Koennecke, 1919).

Sylvester (1972) reported postmortem examination of 2 of the sibs reported by Richards and Rundle (1959). A woman had died at age 38 years of status epilepticus, and a man at age 29 years from bronchopneumonia. The ovaries were abnormal and consisted only of fibrous tissue without any follicles, and the testicles showed spermatogenic arrest. The inner ear and cochlea showed atrophy of the neuroepithelium and degeneration of spiral ganglion cells. The olivocerebellar, spinocerebellar, dorsal columns, and corticospinal tracts all showed myelin loss, and fibrous gliosis was present throughout the brainstem and cerebellum. Neuronal loss was found in the dentate nuclei. The neuropathologic findings suggested Roussy-Levy syndrome (180800). See Berman et al. (1974) and 208850 for a similar disorder.

Inheritance

The transmission pattern of the ataxia-deafness-mental retardation syndrome in the family reported by Richards and Rundle (1959) was consistent with autosomal recessive inheritance.