Abstract
We report about the 18-year-old male patient with hereditary sensory-motor polyneuropathy (HMSN) type 1. Despite a positive family history, the patient had no complaints. He was able to walk, to run and even to jump. He was diagnosed with HMSN type 1 when he went through chemotherapy due to an acute leukemia in November 2007. After the third dose of vincristine it came to a rapid neurological deterioration with the loss of the ability to walk and to stand, the bimanual function and a general weakness due to a particular sensitivity to vincristine, which was abandoned straight afterwards. In the end, the patient was only lying in bed. Then a genetic analysis was done due to the high frequency of HSMN type 1 in the family and a duplication on chromosome 17p11.2-p12 was found in the patient, which confirmed the diagnosis. During the rehabilitation therapy which was started parallel to the chemotherapy, the patient was not only enabled to walk a distance of 1500m without any devices, but also his bimanual skills and his ability to write were acquired. At discharge, the patient was again fully independent in his activities of daily life. Although he underwent a new chemotherapy treatment and suffered from pneumonia and aspergillosis of the lung, which led to a lobectomy of the right side, it did not come to a deterioration or even loss of the motoric skills.
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