PEDIATRICS Vol. 76 No. 6 December 1985, pp. 944-949
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Muscle Involvement in Progressive Diaphyseal Dysplasia

Yehezkel Naveh MD1, Ruth Ludatshcer MD1, Uri Alon MD1, and Benjamin Shart MD1

1 From the Departments of Pediatrics B and Pathology, Rambam Medical Center; Department of Neurology, Haifa City Medical Center (Rothschild); and Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel

Muscle involvement in progressive diaphyseal dysplasia was evaluated in five children, of whom four were members of one family. Age range was 2 to 10 years 9 months, and mean age was 5.5 years. Evaluation included serum enzymes, electromyography, and muscle biopsy examined by light and electron microscopy. Serum enzymes were usually noncontributory. Electromyography revealed "myopathic pattern" in four of the five patients. Muscle biopsy specimens were taken from three of the five children, including two patients from one family, of whom one had normal electromyography, and one sporadic case. Examination of the biopsy specimens by light microscope was generally not useful, whereas electron microscopic examination revealed myopathic and vascular changes consisting of atrophy of isolated muscle fibers, accumulation of endomysial collagen fibrils, and thickening of the perivascular basement membrane. The main contribution of this study is to describe electron miscroscopic vascular changes in muscles that appear to be similar in familial and sporadic cases of progressive diaphyseal dysplasia.

Key Words: Camurati-Engelmann's disease • Engelmann's disease • progressive diaphyseal dysplasia • osteosclerosis • electron microscopy • muscle • myopathy

Submitted on January 3, 1984
Accepted on November 6, 1984