Peripheral neuropathies in the young child

From the Institute for Neuromuscular Research at The Children’s Hospital at Westmead, Australia comes a new article, by R. Ouvrier, that mentions Dejerine-Sottas. The full text is currently only available from E-med, but here’s the abstract:
Most childhood neuropathy cases are genetic in origin but about 15-20 percent are clearly acquired. The axonal degenerative forms are sometimes of metabolic origin and are occasionally specifically treatable. Until recently, their molecular basis has been poorly understood. The inherited demyelinating neuropathies, on the other hand, are caused by a variety of mutations of specific myelin proteins and are much better characterised at the molecular genetic level. In the light of a biopsy series of 260 cases of peripheral neuropathy in children, the presenting syndromes are reviewed. Particular emphasis is placed on the diagnostic approach to individual neuropathy syndromes and their likely molecular biological basis. Such syndromes include congenital hypomyelinating neuropathy, severe infantile axonal neuropathy with respiratory failure (SMARD), the Dejerine-Sottas syndrome, hereditary sensory and autonomic neuropathies, HMSN of axonal type with onset in early childhood and the now numerous forms of Charcot-Marie-Tooth disease including recently elucidated recessive forms of CMT, such as those due to EGR2, N-myc DRGI, periaxin, GDAP1 and myotubularin mutations as well as giant axonal neuropathy. Unfortunately, specific treatment is not yet available for such cases but the expansion of the understanding of these conditions gives real hope for an eventual cure.

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