Electron Microscopy in a Child with Seizures

Katherine A. Chorneyko, MD, Department of Pathology, McMaster University Medical Centre, Hamilton, Ontario

Clinical History

3 year old female with progressive seizures and developmental delay. Skin and muscle biopsies were performed.

Light Microscopy

Light microscopic examination of skin and muscle showed slightly increased staining with acid phosphatase. No other specific changes were seen.

Electron Microscopy

Ultrastructural examination of skin and muscle biopsies was diagnostic and show widespread presence of abnormal inclusions composed almost exclusively of curvilinear bodies. These abnormal inclusions were seen in fibroblasts, small nerves, pericytes and skeletal muscle fibers.

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