Literature DB >> 1621172

Membranous lipodystrophy. Clinical and electrophysiological observations in the first South African case.

J P Stübgen1, B P Lotz.   

Abstract

A 37-year-old white man with membranous lipodystrophy (ML), the first case from Africa, is reported. Two years before presentation a diagnosis of presenile dementia of uncertain aetiology had been made. The diagnosis of ML was confirmed on histological examination of bone fragments obtained during surgery for reduction of pathological fractures. Computed tomography of the head showed typical cerebral atrophy and basal ganglia calcification. Electrophysiological observations included normal peripheral and central conduction studies.

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Year:  1992        PMID: 1621172

Source DB:  PubMed          Journal:  S Afr Med J


  4 in total

Review 1.  Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia.

Authors:  A Verloes; P Maquet; B Sadzot; M Vivario; A Thiry; G Franck
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Case report 867. Membranous lipodystrophy (polycystic lipomembranous osteodysplasia).

Authors:  N Koçer; S Dervisoglu; G Ersavasti; A Altug; O Cokyüksel
Journal:  Skeletal Radiol       Date:  1994-10       Impact factor: 2.199

3.  Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

Authors:  P Pekkarinen; I Hovatta; P Hakola; O Järvi; M Kestilä; U Lenkkeri; R Adolfsson; G Holmgren; P O Nylander; L Tranebjaerg; J D Terwilliger; J Lönnqvist; L Peltonen
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

Review 4.  Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects.

Authors:  Marino Muxfeldt Bianchin; Heraldo M Capella; Daniel Loureiro Chaves; Mário Steindel; Edmundo C Grisard; Gerson Gandi Ganev; João Péricles da Silva Júnior; Schaeffer Neto Evaldo; Mônica Aparecida Poffo; Roger Walz; Carlos G Carlotti Júnior; Américo C Sakamoto
Journal:  Cell Mol Neurobiol       Date:  2004-02       Impact factor: 5.046

  4 in total

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