Nasu-Hakola's disease (membranous lipodystrophy). A case report.

Abstract:

:An autopsy case of Nasu-Hakola's disease (membranous lipodystrophy) was reported. A 29-year-old Japanese woman whose younger sister had been affected with typical Nasu-Hakola's disease with skeletal and neuropsychiatric syndromes and membrano-cystic lesions in the bones developed forgetfulness and lack of initiative. The clinical features were characterized by diminished drive, apathy, euphoria, disturbance of attention, amnestic syndrome, and gait disturbance. The clinical course of her illness was 8 years. The neuropathologic examination revealed marked symmetrical gliosis of the cerebral white matter (sclerosing leukodystrophy) predominantly in the frontal and temporal lobes with slight or moderate demyelination (dissociation glio-myelinique) and widespread axonal changes such as fragmentation and spheroid in the white matter of the cerebral hemisphere, cerebellum, basal ganglia, and brain stem. The ultrastructure of spheroids showed neurofilamentous accumulation. We discussed the importance of axonal changes with regard to the pathogenesis and etiogenesis of the disease.

journal_name

Acta Neuropathol

journal_title

Acta neuropathologica

authors

Matsushita M,Oyanagi S,Hanawa S,Shiraki H,Kosaka K

doi

10.1007/BF00689400

subject

Has Abstract

pub_date

1981-01-01 00:00:00

pages

89-93

issue

2

eissn

0001-6322

issn

1432-0533

journal_volume

54

pub_type

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