title: Neurophysiological and neuropathological studies in two children with unusual form of multiple system degeneration: evidence for cerebellar and brainstem involvement.
abstract: Comparative neurophysiological and neuropathological studies were performed in two children who were found as a very rare multiple system degeneration (MSD) in brainstem and cerebellum. One young child suffered from both multiple system and retinal degeneration and another child had widespread multiple system degeneration associated with lipoprotein disorder and liver cirrhosis. The results of the neurophysiological studies indicated dysfunction of the brainstem and the peripheral nerves and were well correlated with the clinical course. CT studies showed progressive cerebellar atrophy. Since serial neurophysiological and CT studies were compatible with the neuropathological findings, the combination of these examinations seems to be quite valuable for understanding the pathogenesis and monitoring the progression of MSD in childhood.
authors.affiliation: Institute of Neurological Sciences, Tottori University School of Medicine, Yonago, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kawahara
authors.forename: Y
authors.initials: Y
authors.lastname: Tomita
authors.forename: S
authors.initials: S
authors.lastname: Takashima
authors.forename: S
authors.initials: S
authors.lastname: Nishimura
authors.forename: K
authors.initials: K
authors.lastname: Takeshita
mesh_terms: D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D001933:Brain Stem / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D005072:Evoked Potentials, Auditory; D005073:Evoked Potentials, Somatosensory; D005260:Female; D006801:Humans; D008297:Male; D011859:Radiography; D013132:Spinocerebellar Degenerations / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D013577:Syndrome