[ @entity1897 associated with congenital bilateral XXXX : histological and ultrastructural study of the sural nerve].

@entity17 @entity1183 @entity5149 @entity16 @entity809 @entity425 @entity1897 @entity427 @entity5653
A 53-year-old female with @entity1897 associated with bilateral @entity5149 was reported. She was admitted because of numbness in the bilateral feet and gait disturbance. Her parents were not related. There was no family history of any @entity16 . She had bilateral @entity5149 which were present at birth to developed in early childhood. She could walk, but could not run. Since 5 years prior to the admission she noted gradually increasing disturbance of gait. Neurological examination revealed @entity425 and @entity5653 in the distal parts of the lower extremities and @entity427 . There were @entity1183 , hypalgesia and @entity809 in the lateral portions of the bilateral feet. Deep sensation was normal. There was no weakness or @entity5653 in the upper extremities. Motor nerve conduction velocities were normal and sensory nerve conduction velocities were reduced in the median nerve. No action potentials could not be elicited in the bilateral tibial and peroneal nerves. A sural nerve biopsy showed a markedly hypertrophic perineurium, 28-150 micron thick, a large Renaut body measured 140 micron by 200 micron in diameters and a markedly reduced number of the myelinated fibers. Fiber size histogram showed many unmyelinated fibers larger than 1 micron, despite loss of fibers of the usual size. Therefore, a part of the unmyelinated fibers might be demyelinated. There were no axonal degeneration and onion-bulb formation. @entity17 was found in approximately 30% of the myelinated fibers.(ABSTRACT TRUNCATED AT 250 WORDS)
