Dysmyelination With Jaundice

Clinical Features

Neuhauser et al. (1977) described a brother and sister, with nonconsanguineous parents, who had severe mental retardation, spastic cerebral palsy, seizures, progressive or intermittent jaundice, and recurrent infections. They died at ages 3 and 4 years. One showed a small brain with almost complete lack of myelin in cerebral white matter, brainstem, cerebellum, and anterolateral parts of the spinal cord. Hypoplastic bile ducts, hydroureter, and hydronephrosis were also found. The brain abnormality was considered primarily a dysmyelination. Neuhauser et al. (1977) suggested that the syndrome described by Waggoner et al. (1942) (202600) might be due to a similar pathogenic process.

Inheritance

Neuhauser et al. (1977) suggested autosomal recessive inheritance of this disorder because of its occurrence in sibs.