Abstract
We describe the neurologic findings in a patient with alpha-N-acetylgalactosaminidase deficiency (Kanzaki disease). Clinical and electrophysiologic studies revealed sensory-motor polyneuropathy, and sural nerve pathology showed decreased density of myelinated fibers with axonal degeneration. The patient had mildly impaired intellectual function with abnormal brain MRI and sensory-neuronal hearing impairment with repeated episodes of vertigo attacks. These findings suggest that Kanzaki disease may develop neurologic complications in the CNS and peripheral nervous system.
MeSH terms
-
Adult
-
Biopsy
-
Brain Diseases / diagnosis*
-
Brain Diseases / genetics
-
Brain Diseases / pathology
-
Fabry Disease / diagnosis
-
Fabry Disease / epidemiology
-
Fabry Disease / genetics
-
Fabry Disease / pathology
-
Female
-
Follow-Up Studies
-
Hexosaminidases / deficiency*
-
Humans
-
Lysosomal Storage Diseases, Nervous System / diagnosis*
-
Lysosomal Storage Diseases, Nervous System / genetics
-
Lysosomal Storage Diseases, Nervous System / pathology
-
Male
-
Middle Aged
-
Neuroaxonal Dystrophies / diagnosis
-
Neuroaxonal Dystrophies / genetics
-
Neuroaxonal Dystrophies / pathology
-
Peripheral Nervous System Diseases / diagnosis*
-
Peripheral Nervous System Diseases / epidemiology
-
Peripheral Nervous System Diseases / pathology
-
Sural Nerve / pathology