The cerebral cortex was relatively maintained, and cortical atrophy and

neuronal loss and atrophy were mild. Metachromatic substance deposition was not seen. Although slight small vessel proliferation was confirmed, there were no globoid cells in the vicinity. In the thalamus, loosening was confirmed. The hypothalamus was maintained, and in the hippocampus, marked neuronal loss was seen. Although the cerebellum was relatively maintained, mild degeneration was seen in the white Ixazomib mw matter. In the brain, no membranocystic lesion was observed. The patient had a conversion of nucleotide at position 116 resulting in serine 38 to asparagine substitution. In the 1961 Convention of the Japanese Orthopedic Association, Terayama named learn more the characteristic osseous lesions of the disease multiple membranocystoses.6 After performing an autopsy, Nasu and colleagues

tentatively named the disease membrano-cystic lipodystrophy and presented it at the 1970 Tokyo Pathology Conference. Then, in the 1971 Convention of the Japanese Society of Pathology and the 1972 Convention of the Japanese Society of Neuropathology, the disease was referred to as membranous lipodystrophy.7 The disease was also reported in Finland and Sweden, and in 1964, Järvi and colleagues coined the term “cystic capillary-necrotic osteodysplasia”.8 In 1970, Hakola and colleagues documented “osteodysplasia polycystica hereditaria combined

with sclerosing leucoencephalopathy”, and Hakola reported thorough studies in 1972.2,9 In 1973, when Yakumaru reported an autopsy case of membranous lipodystrophy, he pointed out similarities with Finnish and Swedish cases.10 In Japan, the disease was named Nasu disease, and in 1981, Hanawa and colleagues proposed that since Nasu disease, membranous lipodystrophy, and the Finnish cases were the same, the diseases should be referred to as NHD.11 In Finland, the disease was named “polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy” (PLOSL) in 1980.12 So far, there have been approximately 200 cases, and while most patients have been Japanese P-type ATPase and Finnish, cases have been reported in Sweden,13,14 the USA,15,16 Norway,17 Italy,18 South Africa,19 Austria,20 Turkey,21 Belgium,22 France,23 Brazil,4 Germany,24 Spain25 and Bolivia.26 The prevalence in Finland has been reported as 2/1000 000.27 A typical patient often has bone symptoms occurring during adolescence and slowly progressive dementia. Most patients first experience bone symptoms, and beginning with hand, foot and knee pains and with increased susceptibility, the patient suffers repeated pathological fractures. Dementia is mostly characterized by personality changes, and patients experience euphoria, indifference, slouchy lifestyle, apathy, disinhibition, and lack of insight into their disease.