title: Neuronal intranuclear hyaline inclusion disease with rapidly progressive neurological symptoms.
abstract: This report describes a male patient who presented with symptoms suggestive of spinocerebellar degeneration and who died of respiratory failure at the age of 7 years but was diagnosed, at autopsy, as having neuronal intranuclear hyaline inclusion disease. Neuronal intranuclear hyaline inclusion disease is a progressive and degenerative disease; diagnosis is possible only by neuropathological analysis. This is a rare disorder; few cases with early childhood onset and rapidly progressive neurologic symptoms have been documented. According to previous reports, most neurons in the central nervous system exhibited intranuclear eosinophilic inclusion bodies; neuronal depletion appeared to be restricted to the cerebellar cortex and the medullary inferior olivary nuclei, consistent with the fact that clinical deficit appears to correspond to the site of neuronal depletion and not to where eosinophilic bodies are detected. Immunohistochemical analysis revealed that these inclusions were positive for ubiquitin. The case presented herein clearly indicates that neuronal intranuclear hyaline inclusion disease should be considered as a differential diagnosis of cases involving spinocerebellar degeneration with childhood onset.
authors.affiliation: Department of Pediatrics, Osaka General Medical Center, 3-1-56 Mandai Higashi, Sumiyoshi-Ku, Osaka City, Osaka, Japan. manot@gh.pref.osaka.jp
authors.forename: T
authors.initials: T
authors.lastname: Mano
authors.forename: S
authors.initials: S
authors.lastname: Takizawa
authors.forename: I
authors.initials: I
authors.lastname: Mohri
authors.forename: T
authors.initials: T
authors.lastname: Okinaga
authors.forename: K
authors.initials: K
authors.lastname: Shimono
authors.forename: K
authors.initials: K
authors.lastname: Imai
authors.forename: M
authors.initials: M
authors.lastname: Taniike
authors.forename: K
authors.initials: K
authors.lastname: Ozono
authors.forename: H
authors.initials: H
authors.lastname: Fujimura
mesh_terms: D002648:Child; D018450:Disease Progression; D005625:Frontal Lobe / Q000378:metabolism / Q000473:pathology; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D045586:Intranuclear Inclusion Bodies / Q000378:metabolism* / Q000473:pathology* / Q000648:ultrastructure; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D046529:Microscopy, Electron, Transmission; D013132:Spinocerebellar Degenerations / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology