Department of Pathology, University of Oklahoma Health Sciences Center
A 5 year-old Girl with Non-progressive Muscle Weakness
Clinical information: The patient was a 5 year-old girl with muscle weakness and pain. Her condition was non-progressive. She had chronic pain in the leg since 18 months of age and the pain tended to occur at around 5 o'clock in the afternoon. There was no cramping. Her motor milestones were slightly delayed; as per her mother, she started walking and running later than other children but the exact delay was not clear. She had mild difficulty in climbing stairs and needed to use hand rails. She also had pelvic girdle weakness and some truncal hypotonia and instability. A partial Gower's maneuver was necessary when she arose from a supine position. There was no evidence of decrease in facial weakness or facial expression. There was an absent of joint reflex. Her serum creatine kinase level was normal. Her mother also suffered some muscle pain as a child and had decreased facial expression. A muscle biopsy from the left thigh muscle was performed and yielded the following specimen.
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Abbreviations:
| HE | Hematoxylin-eosin stain. | COX | Cytochrome C oxidase reaction. |
| MGT | Modified Gomori's trichrome stain. | PAS | Periodic acid Schiff reaction. |
| NADH-TR | NADH-tetrazolium reductase reaction. | Desmin | Immunohistochemistry for desmin. |
| SDH | Succinate dehydrogenase reaction. |
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Cases of the Month Evaluation Coordinator: KarMing-Fung@ouhsc.edu