Abstract

LOPEZ-LOYO, Enrique; CESPEDES, Ghislaine; GONZALEZ, Jesús Enrique  and  LARA, Carmen. Miopatía por depósito de lípidos Una entidad válida en el diagnóstico del síndrome hipotónico. Correlación clínico-morfológica. Gac Méd Caracas [online]. 2003, vol.111, n.4, pp.287-293. ISSN 0367-4762.

Lipid storage myopathies are the fundamental expression of lipid metabolic muscular disorders. In this study we discuss four cases of the entity, pointing out the clinical, histopathological and biochemical characteristics present in the known genetic errors of the fatty acid metabolism of the skeletal muscle. Three of these patients were females. In three of our cases the findings could be related to carnitine deficiency and the other one to flavoprotein deficiency. We conclude that if clinical and laboratory data, as well as morphological study are sistematically correlated, the etiology of these myopathies can be infered, though the definitive diagnosis should be established by biochemical methods.

Keywords : Myopathy; Lipid storage; Carnitine deficiency.