Department of Pathology, University of Oklahoma Health Sciences Center

 

May 2003, Case-305-2. Quiz set! Click here to see.

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.

Com305-2-HE.gif (95001 bytes) Com305-2-Trichrome.gif (80120 bytes) Com305-2-ATPase.gif (45622 bytes) Com305-2-NADH.gif (71357 bytes) Com305-2-SDH.gif (54049 bytes) Com305-2-COX.gif (45429 bytes) Com305-2-PAS.gif (52502 bytes) Com305-2-Desmin.gif (61781 bytes)Click thumbnails to see pictures.

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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