کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1916127 | 1535202 | 2007 | 5 صفحه PDF | دانلود رایگان |
We report a patient with acute intermittent porphyria who presented with progressive motor neuropathy, particularly in the upper limbs. The electrophysiological studies showed an asymmetric motor neuropathy with a prominent involvement of both the radial and left peroneal nerves. During the 1-year follow-up period, 6 courses of hematin infusion, with 150 mg daily for 4 consecutive days every month, were administrated. The motor neuropathy showed a steady and gradual improvement following the hematin treatment. Molecular analysis of the porphobilinogen deaminase gene revealed a short segment deletion (1008–1019delCAGCCTGGCCAA) resulting in a truncated protein. The findings suggest that early hematin treatment is temporally associated with interval improvement of the patient's porphyric motor neuropathy.
Journal: Journal of the Neurological Sciences - Volume 260, Issues 1–2, 15 September 2007, Pages 231–235