J Neurol Neurosurg Psychiatry 40:170-178 doi:10.1136/jnnp.40.2.170
  • Research Article

Fatal cases of lipid storage myopathy with carnitine deficiency.


Three patients affected by a progressive myopathy with rapid lethal evolution are presented. Excessive lipid storage was found in type 1 fibres of muscle and in liver, kidney, and myocardium. Carnitine concentrations were markedly reduced in muscle, plasma, and heart, significantly lower in the liver, and normal in kidney. D-L carnitine replacement therapy was ineffective in the only case treated. The relationship of the present cases with the syndrome of lipid storage myopathy and carnitine deficiency is discussed.