Short ReportSubtle Changes in Cutaneous Nerves and Sural Nerve Biopsy in a Patient With Fabry's DiseaseLim, Siew-Na MD; Huang, Chin-Chang MD; Kuo, Hung-Chou MD; Hsieh, Yu-Chen BS; Chu, Chun-Che MD Author Information From the Department of Neurology, Chang Gung Memorial Hospital and University, Taipei, Taiwan. Received for publication February 25, 2005; revised March 15, 2005; accepted May 16, 2005. Reprints: Chin-Chang Huang, Department of Neurology, Chang Gung Memorial Hospital 199, Tung-Hwa North Road, Taipei, Taiwan (e-mail: [email protected]). Journal of Clinical Neuromuscular Disease: September 2005 - Volume 7 - Issue 1 - p 19-24 doi: 10.1097/01.cnd.0000172992.73676.c2 Buy Metrics Abstract We report the clinical manifestations, and sural nerve and skin biopsy findings in a patient with Fabry's disease who had normal renal function. The patient had a typically painful neuropathy with an increase of sensory thresholds in quantitative sensory tests and a low level of serum α-galactosidase. Although the sural nerve biopsy revealed electron-dense bodies in the perineurial cells, normal axon and myelin structures and even the fiber density of large and small myelinated fibers were noted. However, the cutaneous nerve biopsy study showed early changes in the small-fiber neuropathy. The data indicate that a cutaneous nerve biopsy study can be an adjuvant diagnostic tool in some patients with Fabry's disease and a normal renal function. © 2005 Lippincott Williams & Wilkins, Inc.