Nasu-Hakola Syndrome: An Unusual Cause of Pathological Fractures
نویسندگان
چکیده
Nasu-Hakola syndrome is a hereditary cause of pathological fractures. Uniquely, patients also develop neuropsychiatric symptoms and signs. The disease is ultimately fatal. We propose a management strategy for pathological fractures in sufferers based on the stage of the disease.
منابع مشابه
Syndrome of the month Nasu-Hakola syndrome: polycystic lipomembranous
Presenile dementia of genetic origin is often attributed to Alzheimer's disease. This disorder remains by far the commonest cause of early dementia. Pick disease and prion protein disorders are usually discussed in the differential diagnosis. We review here Nasu-Hakola syndrome (OMIM 221770), another unusual cause of presenile intellectual deterioration, in which neurological impairment occurs ...
متن کاملNeuropsychological tests and functional nuclear neuroimaging provide evidence of subclinical impairment in Nasu-Hakola disease heterozygotes.
Nasu-Hakola disease is a rare, recessively inherited disease characterized by presenile dementia and bone cysts. Until now, no evidence of subclincal pathological changes in individuals heterozygous for the mutations underlying Nasu-Hakola disease has been reported. We performed a functional neuroimaging (99mTc-ECD SPECT) and neuropsychological study of healthy members of an Italian family carr...
متن کاملCASE REPORTS Nasu-Hakola Disease (PLOSL) Report of Five Cases and Review of the Literature
The combination of bilateral lytic lesions in the bones of the lower and upper extremities and presenile dementia is characteristic of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, also known as Nasu-Hakola disease. The clinical course of this rare and fatal disorder is characterized by pathologic fractures of these often painful lesions, rapid progression of dem...
متن کاملNasu-Hakola disease revealed on X-ray.
We encountered a 37-year-old woman who had experienced frontal lobe symptoms since her twenties without a history of pathological fractures or bone pain. Brain MRI images showed frontotemporal atrophy and leukoencephalopathy (Picture A). Her clinical history and imaging findings prompted us to take X-rays of the extremities. The X-ray images revealed multiple bone cysts in the distal extremitie...
متن کامل[Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy].
BACKGROUND Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu-Hakola syndrome) (PLO-SL) is an unusual cause of early dementia in which the decline in cognitive function is associated with multiple bone cysts, in particular in hands and feet. About 165 cases of this autosomal recessive hereditary disease have been reported worldwide, mostly from Finland and Japan....
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ورودعنوان ژورنال:
دوره 2012 شماره
صفحات -
تاریخ انتشار 2012