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NEUROLOGY 2004;62:1604-1606
© 2004 American Academy of Neurology
Brief Communications

Neurologic manifestations of Kanzaki disease

F. Umehara, MD, K. Matsumuro, MD, Y. Kurono, MD, K. Arimura, MD, M. Osame, MD and T. Kanzaki, MD

From the Departments of Neurology and Geriatrics (Drs. Umehara, Matsumuro, Arimura, and Osame), Otolaryngology (Dr. Kurono), and Dermatology (Dr. Kanzaki), Graduate School of Medicine and Dental Sciences, Kagoshima University, Japan.

Address correspondence and reprint requests to Dr. F. Umehara, Department of Neurology and Geriatrics, Graduate School of Medicine and Dental Sciences, Kagoshima University, Sakuragaoka 8-35-1, Kagoshima, Japan; e-mail: umehara{at}m2.kufm.kagoshima-u.ac.jp

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.

Received September 3, 2003. Accepted in final form December 22, 2003.






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