Symptomatic Treatment of Tomaculous Polyneuropathy with Methylprednisolone

Aims: The hereditary polyneuropathies cover a clinically, neurophysiologically and genetically heterogeneous group of peripheral neuropathies with motoric, sensoric and autonomous symptoms. A deletion in the PMP22-gene is often causing Hereditary Neuropathy with Liability to Pressure Palsy, that leads to hypermyelination in the area of mechanically stressed nerves after inadequate traumas. Using an electron microscope, sausage-like focal thickenings of the myelin sheath can be found (Tomaculous Neuropathy).

To date there is no curative therapy available. Corticosteroids, diaminopyridine and ascorbic acid are used in some cases, although their general effectiveness could not be proved by studies.

Methods: We report on a 14-year-old girl with typical clinical and neurophysiological symptoms.

Delays could be found in conduction speed of different nerve segments with emphasis on physiological narrowings and areas exposed to pressure. Particularly motoric and sensoric median nerve fibers in the left carpal tunnel, ulnar nerve in the cubital tunnel and peroneal nerve next to the head of fibula were affected.

The patient has had an abnormal gait pattern with pes cavus and numbness of the hands in the sense of carpal tunnel syndrome. A recommendation for surgery was already made by a consultant. Based on the high level of suffering we decided to conduct an intravenous pulse therapy with Methylprednisolon.

Results: The symptoms decreased while the patient was still under treatment. One day after end of the pulse therapy the conduction speed of the motoric median nerve fibers recovered completely. Three weeks later normal findings of median and ulnar nerve conduction speed and moderate improvement of peroneal nerve conduction speed could be registrated.

Conclusion: Similar to the case reports our patient with Tomaculous Neuropathy showed a good response to corticosteroids. Because of the symptoms' duration and severity, a coincident spontaneous remission seems to be unlikely. Despite missing evidence, the use of corticosteroids should be considered in individual cases with high level of suffering.