[Multiple symmetrical lipomatosis with familial polineuropathy]

Multiple symmetrical lipomatosis (LSM) is characterized by the development of symmetrical lipomas and is often associated with axonal polyneuropathy (PNP). Presentation is usually sporadic. Familial cases have been reported infrequently, with variable modes of inheritance. The pathogenesis is unknown. It has been related to mitochondrial cytopathy and alterations in lipid metabolism.

To establish clinico pathological correlation in our cases of familial presentation. Patients and methods. We report seven patients, from three families, teetotalers with LSM. Clinical assessment included lipidogram, neurophysiological study of nerve and muscle, sural nerve biopsy in two of them and muscle biopsy in one member of each family for morphological assessment, respiratory chain biochemistry and study of molecular genetics.

LSM was associated with axonal PNP and hyperlipidemia in the seven members of the three families, with an apparent pattern of autosomal recessive inheritance. No conclusive data of mitochondrial cytopathy, in the form of significant morphological changes, biochemistry of the mitochondrial respiratory chain or micochondrial DNA were found.

Although mitochondrial cytopathy has been described as part of the syndromes in which LSM occurs, there may be other undefined aspects, such as disorders of lipid metabolism which form part of the pathogenesis.