Ultrastructural and histochemical abnormalities of skeletal muscle in patients with chronic vitamin E deficiency

Abstract

We report muscle biopsy abnormalities in four patients with a chronic cholestatic syndrome, low serum vitamin E levels, absent reflexes, mild limb weakness, ataxia, and sensory loss in arms and legs. Skeletal muscle fibers contained multiple autofluorescent inclusions that show strong acid phosphatase and esterase reactivity. By electronmicroscopy, the inclusions lying between myofibrils were membrane-bound dense bodies having characteristics of both lysosomes and lipopigment material. The material was similar to that observed in vitamin E-deficient animals and probably formed in response to disordered intracellular lipid peroxidation.

Ultrastructural changes in skeletal muscle of a patient with familial intrahepatic cholestasis associated with vitamin E deficiency.

“…Granule-like inclusions found in our biopsy specimens are similar in structure to autofluorescent inclusions that show intense acid phosphatase and esterase activity reported in vitamin E deficient patients (Guggenheim et al 1982 ;Neville et al 1983). They have characteristics of both lysosomes and lipopigment granules.…”

“…They have characteristics of both lysosomes and lipopigment granules. Many investigators believe that these inclusions result from intracellular peroxidation of phospholipids and unsaturated fatty acids (Swensen and Telford 1973;Nelson et al 1981;Guggenheim et al 1982;Neville et al 1983), though their exact genesis remains obscure.…”

“…These dysfunctions have been attributed to prolonged vitamin E deficiency in the developing neuromuscular system (Guggenheim et al 1982). Actually, serum vitamin E levels are extremely low in these patients (Guggenheim et al 1982;Neville et al 1983;Werlin et al 1983).…”

“…vitamin E deficiency ; cholestasis ; inclusion body ; external lamina ; plasma membrane ; ultrastructure Chronic cholestatic diseases in childhood such as familial intrahepatic cholestasis sometimes develop progressive neuromuscular dysfunctions including areflexia, ataxia, ophthalmoplegia and muscle weakness (Guggenheim et al 1982;Neville et al 1983 ;Werlin et al 1983). These dysfunctions have been attributed to prolonged vitamin E deficiency in the developing neuromuscular system (Guggenheim et al 1982).…”

Ultrastructural abnormalities in the skeletal muscle of children with chronic cholestasis and a long-term vitamin E replacement.

“…We discuss the relationship of these findings to vitamin E replacement in children with chronic cholestasis. vitamin E ; cholestasis ; muscle pathology ; ultrastructureThe relationship between prolonged vitamin E deficiency and neurologic complications in patients with cholestasis has been well documented (Rosenblum et al 1981;Guggenheim et al 1982a Guggenheim et al , b, 1983Alvarez et al 1983;Neville et al …”