Neuronal intranuclear hyaline inclusion disease (NIHID) is a rare neurodegenerative disease in which eosinophilic intranuclear inclusions develop mainly in neurons.
It has been described to present as hereditary motor-sensory and autonomic neuropathy.
In autopsy cases, eosinophilic intranuclear inclusions are widespread, particularly in sympathetic and myenteric ganglion neurons, dorsal root ganglion neurons, and spinal motor neurons. These neurons also were decreased in number.
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.
References
Visceral neuropathy and intestinal pseudo-obstruction in a murine model of a nuclear inclusion disease. Clarke CM, Plata C, Cole B, Tsuchiya K, La Spada AR, Kapur RP. Gastroenterology. 2007 Dec;133(6):1971-8. PMID: 18054568
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. Neurology. 2005 Nov 22;65(10):1538-43. PMID: 16301479