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Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy

From the Department of Neurology (Drs. Sone, Hishikawa, Koike, Hattori, Hirayama, Nagamatsu, Yamamoto, Tanaka, and Sobue), Nagoya University Graduate School of Medicine; the Department of Neuropathology, Institute for Medical Sciences of Aging (Drs. Yoshida and Hashizume), Aichi Medical University; and the Departments of Neurology (Dr. Imamura) and Pathology (Dr. Yamada), Hikone Municipal Hospital, Japan.

Address correspondence and reprint requests to Dr. Gen Sobue, Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan; e-mail: sobueg{at}med.nagoya-u.ac.jp

Background: Neuronal intranuclear hyaline inclusion disease (NIHID), a rare neurodegenerative disease in which eosinophilic intranuclear inclusions develop mainly in neurons, has not yet been described to present as hereditary motor-sensory and autonomic neuropathy.

Methods: Patients in two NIHID families showing peripheral neuropathy were evaluated clinically, electrophysiologically, and histopathologically.

Results: In both families, patients had severe muscle atrophy and weakness in limbs, limb girdle, and face; sensory impairment in the distal limbs; dysphagia, episodic intestinal pseudoobstruction with vomiting attacks; and urinary and fecal incontinence. No patients developed symptoms suggesting CNS involvement. Electrophysiologic study showed the reduced motor and sensory nerve conduction velocities and amplitudes, and also extensive denervation potentials. In sural nerve specimens, numbers of myelinated and unmyelinated fibers were decreased. In two autopsy cases, eosinophilic intranuclear inclusions were widespread, particularly in sympathetic and myenteric ganglion neurons, dorsal root ganglion neurons, and spinal motor neurons. These neurons also were decreased in number.

Conclusion: Patients with neuronal intranuclear hyaline inclusion disease (NIHID) can manifest symptoms limited to those of peripheral neuropathy. NIHID therefore is part of the differential diagnosis of hereditary motor-sensory neuropathy associated with autonomic symptoms. Intranuclear hyaline inclusions in Schwann cells and in the myenteric plexus may permit antemortem diagnosis of NIHID.

*Both authors contributed equally to this study.

Disclosure: The authors report no conflicts of interest..

Received April 22, 2005. Accepted in final form August 1, 2005.

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