Subtle Changes in Cutaneous Nerves and Sural Nerve Biopsy in a Patient With Fabry's Disease.
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 alpha-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.
Lim
Siew-Na
SN
From the Department of Neurology, Chang Gung Memorial Hospital and University, Taipei, Taiwan.
Huang
Chin-Chang
CC
Kuo
Hung-Chou
HC
Hsieh
Yu-Chen
YC
Chu
Chun-Che
CC