Premium
X‐linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course
Author(s) -
Arts W. F. M.,
Loonen M. C. B.,
Sengers R. C. A.,
Slooff J. L.
Publication year - 1993
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410330519
Subject(s) - ataxia , weakness , hearing loss , audiology , medicine , psychology , physical medicine and rehabilitation , psychiatry , surgery
An X‐linked recessive disease with, in almost all patients, a fatal course in early childhood, occurring in a five‐generation family is described. The 12 affected boys had early‐onset floppiness, ataxia, liability to infections especially of the upper respiratory tract, deafness, and later, a flaccid tetraplegia and areflexia. Eleven boys died before 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 whose central nervous system could be examined at the time of autopsy, an almost complete absence of myelin in the posterior columns of the spinal cord was found. This may be the main pathological substrate for the neurological findings. No biochemical or immunological defects were detected. The family also counted 16 healthy male siblings and 13 definite of 28 possible female carriers. Some carriers developed a hearing impairment in early adulthood. As far as is known now, this disease has not been described before.