MUSCLE INVOLVEMENT IN WERDING-HOFFMAN DISEASE: LIGHT AND ELECTRON MICRODCOPIC STUDY

Authors

Ibrahim Hassan Alzahrani, Consultant Pathologist & Assistant Professor Department of Pathology Faculty of Medicine King Abdulaziz University Jeddah, Kingdom of Saudi Arabia

Article Type

Original Study

Abstract

The present study included muscle biopsies from 12 infants (5 females and 7 males) with Werding-Hoffman's disease (WHO). The mean age of presentation was 11.8 months. Histo­ry of consanguinity was detected in 58.3%(7/12) of cases. The infants were presented with typical floppy baby pattern since birth or early in fi­rst few months of life. All had normal serum creatine phosphokinase level. The presence of large groups of atro­phied small fibres and large hypertro-phied muscle fibres is the classical microscopic picture. The histochemis-try showed that the atrophied and the hypertrophied muscle fibres are of type I and type II. The electron mi­croscopy showed disorganized Z bands in the atrophied muscle fibres. the diagnosis of WHO needs correla­tion of the clinical picture, serum crea­tine phosphokinase, the elecromyo-graphy, the light microscopy, enzyme histochemistry and the electron mi­croscopy.

Recommended Citation

Hassan Alzahrani, Ibrahim (2002) "MUSCLE INVOLVEMENT IN WERDING-HOFFMAN DISEASE: LIGHT AND ELECTRON MICRODCOPIC STUDY," Mansoura Medical Journal: Vol. 31 : Iss. 2 , Article 12.
Available at: https://doi.org/10.21608/mjmu.2002.127108

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