Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autono

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Neurology. 2005 Nov 22;65(10):1538-43.

Neuronal intranuclear hyaline inclusion disease showing motor-sensory

and autonomic neuropathy.

Sone J, Hishikawa N, Koike H, Hattori N, Hirayama M, Nagamatsu M,

Yamamoto M, Tanaka F, Yoshida M, Hashizume Y, Imamura H, Yamada E,

Sobue G.

Department of Neurology, Nagoya University Graduate School of

Medicine, Nagoya 466-8550, Japan.

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.