X-LINKED ATAXIA, WEAKNESS, DEAFNESS, AND LOSS OF VISION IN EARLY-CHILDHOOD WITH A FATAL COURSE

An X-linked recessive disease with, in almost all patients, a fatal co urse in early childhood, occurring in a five-generation family is desc ribed. The 12 affected boys had early-onset floppiness, ataxia, liabil ity to infections especially of the upper respiratory tract, deafness, and later, a flaccid tetraplegia and areflexia. Eleven boys died befo re the age of 5 years. One boy is still alive at the age of 12 years, but in addition to the above-mentioned signs, he must be ventilated at night and is nearly blind due to optic atrophy. In the only patient w hose central nervous system could be examined at the time of autopsy, an almost complete absence of myelin in the posterior columns of the s pinal cord was found. This may be the main pathological substrate for the neurological findings. No biochemical or immunological defects wer e detected. The family also counted 16 healthy male siblings and 13 de finite of 28 possible female carriers. Some carriers developed a heari ng impairment in early adulthood. As far as is known now, this disease has not been described before.