Neuropathic symptoms and findings in women with Fabry disease.

OBJECTIVE: To examine the neurologic and neurophysiologic findings and neurologic symptoms in 12 women with Fabry disease and to study the relationship between the subjective symptoms and the findings on the various tests done. METHODS: Neurography, vibratory and thermal quantitative sensory testing (QST), skin biopsy for measuring intraepidermal nerve fiber density (IENFD). Heart rate variability (HRV) and sympathetic skin response (SSR) tests for detecting autonomic dysfunction, pain-, depression- and somatic symptom questionnaires and clinical examination. RESULTS: Only two women had no persistent symptoms or signs of polyneuropathy, 10 had symptoms of small fiber neuropathy. Neurological examination was normal in most patients. Five patients had decreased IENFD or thermal hypoesthesia in QST. In QST, Adelta-fiber function for innocuous cold was more often impaired than C-fiber function. Conventional nerve conduction studies were mostly normal. Carpal tunnel syndrome (CTS) incidence was increased, 25% had symptomatic CTS. CONCLUSIONS: Heterozygous women carrying the gene for Fabry disease have symptoms and findings of small-fiber polyneuropathy more often than has previously been considered. The prevalence of CTS is also increased. SIGNIFICANCE: While the clinical diagnosis of small-fiber neuropathy is difficult, the diagnostic yield can be increased using a combination of thermal QST and IENFD measurements.

Anomalous superficial radial nerve: a patient with probable autosomal dominant inheritance of the anomaly.

The sensory symptoms due to lesions of the superficial branch of the radial nerve are usually limited to the dorsolateral area of the hand. We describe a 40-year-old woman who presented with numbness of the dorsomedial aspect of the right hand following arthroplasty of the wrist. Clinically, the sensory loss suggested a lesion of the dorsal branch of the ulnar nerve. However, nerve conduction studies showed that the sensory loss was due to a lesion of a branch of the superficial branch of the radial nerve. The patient had bilateral, anomalous innervation of the dorsum of the hand-the dorsal branch of the ulnar nerve could not be demonstrated with nerve conduction techniques and the superficial branch of the radial nerve innervated most of the dorsum of the hand. Antidromic stimulation of the dorsal branch of the ulnar nerve and superficial branch of the radial nerve with paired surface recording of sensory nerve action potentials from the dorsolateral (radial side) and dorsomedial (ulnar side) hand is useful for evaluating this anomaly. Our patient had two children, one of them with a similar anomaly. This suggests an autosomal dominant inheritance of the anomaly.

Neurophysiologic parameters and symptoms in chronic renal failure.

We studied: (1) the sensitivity of various neurophysiologic parameters in the diagnosis of uremic polyneuropathy, (2) the relationship between subjective symptoms and neurophysiologic parameters, and (3) the effect of a single hemodialysis on the neurophysiologic parameters in 21 patients undergoing hemodialysis. The following parameters were studied: sensory and motor nerve conduction, including F-wave parameters; vibration detection thresholds; and thermal thresholds. The clinical findings and subjective symptoms were studied using a standardized questionnaire. The most sensitive parameters in the diagnosis of uremic neuropathy were F-wave parameters from lower limbs, vibration detection thresholds from the feet, and the sural nerve sensory action potential amplitude. The nerves from the upper extremities on the side of the fistula should not be used in the diagnosis of uremic polyneuropathy due to numerous mild local nerve lesions. The positive neuropathic symptoms correlated with quantitative vibratory detection thresholds and sensory nerve conduction studies, especially the amplitude of the sensory nerve action potential in the sural nerve. We found no significant change in any of the neurophysiologic parameters following a single hemodialysis session.