An unusual degenerative disorder of neurons associated with a novel intranuclear hyaline inclusion (neuronal intranuclear hyaline inclusion disease). A clinicopathological study of a case.
A 21-year-old woman with an unusual, progressive, degenerative neurological disorder is described. The disorder is characterized clinically by behavioral abnormality, peculiar involuntary movements, and ataxia starting in early childhood and subsequent development of dementia, choreoathetosis, rectal and bladder incontinence, bulbar and spinal muscular weakness, pes cavus, kyphoscoliosis, and generalized seizures. The clinical manifestations are correlated, with widespread pathological changes affecting almost all neuronal systems. The pathological changes are discussed in relation to the wide spectrum of "multisystem atrophies." Particular attention is directed to the ubiquitous occurrence of a novel intranuclear, eosinophilic, hyaline inclusion in almost all types of central, peripheral, and autonomic neurons. The ubiquitous neuronal involvement seems to explain the diffuse multiple system degeneration. The pathogenesis of the neuronal inclusions is unknown, but it is speculated that the disorder may represent a metabolic abnormality affecting the nuclear protein of neurons, rather than a viral infection. The pathological features, consisting of the neuronal intranuclear hyaline inclusions associated with multiple system atrophy, have not hitherto been described, and "neuronal intranuclear hyaline inclusion disease" is proposed as a name for the disorder. Rectal biopsy demonstrating the intranuclear hyaline inclusions in ganglion cells of the hyenteric plexuses may serve as a diagnostic procedure for the disorder.
D000328:Adult; D001921:Brain / Q000473:pathology; D002467:Cell Nucleus / Q000648:ultrastructure; D005260:Female; D005621:Friedreich Ataxia / Q000473:pathology*; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D002479:Inclusion Bodies / Q000648:ultrastructure*; D009046:Motor Neurons / Q000648:ultrastructure; D009410:Nerve Degeneration; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D009474:Neurons / Q000648:ultrastructure; D013116:Spinal Cord / Q000473:pathology; D013497:Sural Nerve / Q000033:anatomy & histology