Case report 381: Membranous lipodystrophy (MLD).

This disease was recognized for the first time by Jarvi in 1964 and named "Hereditary Folycystic Osteodysplasia (HPO)" [5]. In 1973, Nasu et al. [6] reported an autopsied case that pre- sented the same features as HPO and because of the histological findings, the authors of that manuscript called the entity "Membranous Lipodystrophy". Up to the present time only 27 cases have been reported in the world literature, exclusively in four countries - Finland, Japan, Norway and the USA [1-7]. Mental changes and corresponding lesions of the central nervous system have been associated often with MLD [1, 3, 6], but the relationship between pathological changes in the skeleton and brain remains unclear. The etiology of the disease is unknown. Hakola [3] reported three affected members in the same family, but this observation was not confirmed in other reports. In summary, a fascinating case of an entity called "mem- branous lipodystrophy" has been described in a 35-year-old woman. Multiple, cyst-like disseminated, skeletal lesions were present throughout (except for the spine, innominate bones, ribs and skull). In addition, resorption of bone and a very thin periosteum were identified. Coarse and irregular trabeculae also were noted. Associated with the skeletal lesions in this instance, were hydrocephalus, cerebral cortical atrophy and multiple calcifications in the basal ganglia bilaterally. The development of mental changes and lesions of the cen- tral nervous system as indicated are said to be associated con- sistently with MLD. The cause of the disorder is considered to be unknown. The pathological studies were described in depth and the differential diagnosis was considered. It is believed by the editor that this case report, describing this entity, is a significant contribution to the literature on a disease of great interest, probably unknown to many pphysicians.