Neurologic manifestations of Kanzaki disease.
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.
Umehara
F
F
Department of Neurology and Geriatrics, Graduate School of Medicine and Dental Sciences, Kagoshima University, Japan. umehara@m2.kufm.kagoshima-u.ac.jp
Matsumuro
K
K
Kurono
Y
Y
Arimura
K
K
Osame
M
M
Kanzaki
T
T
D000328:Adult; D001706:Biopsy; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000795:Fabry Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006596:Hexosaminidases / Q000172:deficiency*; D006801:Humans; D020140:Lysosomal Storage Diseases, Nervous System / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D019150:Neuroaxonal Dystrophies / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology
D006596:Hexosaminidases