An X-linked recessive disease with a fatal course in early childhood is reported in a five-generation Dutch family from the Netherlands. Twelve boys were affected and 13 female carriers were identified, some with hearing impairment. Neurological deterioration coincided with recurrent respiratory infections at 1 year of age or earlier and was characterized by hypotonia, ataxia, weakness, absent deep tendon reflexes, nystagmus, and visual and hearing loss. Autopsy in one patient revealed absence of myelin in posterior columns of the spinal cord, and axonal degeneration in the peripheral nerves. The brain was normal in appearance. No biochemical or immunological defects were detected. [1]
COMMENT. Mitochondrial encephalomyelopathy and other known metabolic or degenerative diseases were excluded. The autopsy findings in one patient resembled those of Friedreich’s ataxia, but the age of onset and early death were atypical.