Peripheral neuropathies in the young child

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Abstract from Rev Neurol (Paris). 2004 Dec;160(12):1216-20.

Peripheral neuropathies in the young child.

Ouvrier R.

Institute for Neuromuscular Research, The Children's Hospital at Westmead,

Westmead Australia.

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.