We describe the case of a young girl suffering from thermoregulation disturbances, painless fractures and arthropathy since early childhood. The patient was diagnosed as having a hereditary sensory autonomic neuropathy. Although needle EMG, conventional nerve conduction studies and somatosensory evoked potentials gave normal results, sympathetic skin responses (SSRs) were absent. Sural nerve biopsy showed a substantial reduction in the number of small myelinated and unmyelinated fibers.
We emphasize the importance of SSR testing in revealing a condition which is otherwise difficult to identify by electrophysiological techniques. The combined evidence of functional and morphological findings is strongly suggestive of selective peripheral nerve involvement.
Key words
Painless fractures - Autonomic neuropathy - Sympathetic skin response - Sural nerve biopsy
References
-
1
Dyck P J, Mellinger J F, Reagan T J. et al .
Not “indifference to pain” but varieties of hereditary sensory and autonomic neuropathy.
Brain.
1983;
106
373-390
-
2
Dyck P J, Stevens J C, O'Brien P C. et al .
Neurogenic arthropathy and recurring fractures with subclinical inherited neuropathy.
Neurology.
1983;
33
357-367
-
3
Donaghy M, Hakin R N, Bamford J M. et al .
Hereditary sensory neuropathy with neurotrophic keratitis.
Brain.
1987;
110
563-583
-
4
Gutrecht J A.
Sympathetic skin response.
J Clin Neurophysiol.
1994;
11
519-524
-
5
Heppelmann B.
Anatomy and histology of joint innervation.
J Peripheral Nerv System.
1997;
2
5-16
-
6
Johnsen S D, Johnson P C, Stein S R.
Familial sensory autonomic neuropathy with arthropathy in Navajo children.
Neurology.
1993;
43
1120-1125
-
7
Neumann E, Blanton R.
The early history of electrodermal research.
Psychophysiology.
1970;
6
453-475
-
8
Roberts W J, Kramis R.
Sympathetic nervous system influence on acute and chronic pain. In: Fields HL (ed). Pain Syndromes in Neurology.
Neurology.
1990;
10
85-106
-
9
Sato A, Schmidt R F.
Somatosympathetic reflexes: afferent fibers, central pathways, discharge characteristics.
Physiol Rev.
1973;
53
916-947
-
10
Shahani B T, Halperin J J, Boulu P, Cohen J.
Sympathetic skin response - a method of assessing unmyelinated axon dysfunction in peripheral neuropathies.
J Neurol Neurosurg Psychiatry.
1984;
47
536-542
Dr. A. Polo
Dipartimento di Scienze Neurologiche e della Visione Sezione di Neurologia Policlinico Borgo Roma
37134 Verona
Italy
