A Lipid Metabolic Disease —“Membranous Lipodystrophy”— An Autopsy Case Demonstrating Numerous Peculiar Membrane‐structures Composed of Compound Lipid in Bone and Bone Marrow and Various Adipose Tissues

Abstract

An autopsy case of a 38‐year‐old man demonstrating numerous peculiar membrane‐structures composed of compound lipid in the meta‐physis and marrow of long bones and various organs, where physiological hyperplasia ex vacuo of adipose tissue has occurred remarkably, is reported. The membranous structure was not observed in the brain while sudanophilic leucodystrophy was prominent. The cause of this case is assumed to be an abnormality in the process of differentiation and proliferation of mesenchymal cell to fat cell in adult age, in which the lipid is combined with mucopolysaccharide in the ground substance of connective tissue, resulting in formation of peculiar membranous structure. ACTA PATH. JAP. 23: 539–558, 1973.

Glycoconjugate histochemistry and ultrastructural study of membranous lipodystrophy. A case report.

“…Both the light and electron microscopic findings obtained in the present case coincide well with those of membranocystic lesions in membranous lipodystrophy (21). Although numerous histopathological studies on membranous lipodystrophy including experimentations have been performed, its etiology and morphogenesis are still under debate (1, 5, 8, 10, 11, 13-16, 18-21, 23, 25-27, 29, 30).…”

“…Membranous lipodystrophy (21), of which the first autopsy case was reported by Nasu et al, as a new disease, is possibly caused by lipid metabolic disturbance and is characterized by peculiar arabesque profiles in various adipose tissues and accompanied by leukodystrophy of the brain. The biopsied specimen of this case was reported previously as a cystic bone disease revealing peculiar features at that time (26).…”

Lipid composition of adipose tissue from "membranous lipodystrophy".

“…Also discussions were made on mechanism related to the accumulation of abnormal depot fat. lipids; lipomatosis; bone marrow; membranous lipodystrophy Membranous lipodystrophy was first described as a pathological entity by Nasu et al (1973). Its characteristics consist of cystic dysplasia in the long bone, membranous structures not only in the bone marrow but also in the adipose tissue, and of sudanophilic leucodystrophy of the cerebrum.…”

“…Up to the present, disturbance of lipid metabolism has been suggested as a cause of membranous lipodystrophy. However, there have been only a few reports on the detailed analysis of lipids from the membranous lipodystrophy (Nasu et al 1973;Tashiro et al 1976). The present paper deals with the analysis of lipid composition of the adipose tissue of four cases of membranous lipodystrophy together with relevant chemical and laboratory data.…”

A Japanese Case with Nasu-Hakola Disease of DAP12 Gene Mutation Exhibiting Precuneus Hypoperfusion

“…The clinical course of NHD follows four stages: latent, osseous, early neurological, and late neurological stages (1)(2)(3)(4)(5). The latent stage generally takes place before the patient reaches the age of 20.…”