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Case 27
A 9-year-old boy has been developing calf hypertrophy and leg weakness for about a year. He has
begun to walk on his toes with his back arched. Mild weakness in the shoulders is reported. A maternal
uncle who died of pneumonia at age 20 had a similar condition. A cousin has difficulty walking.
On examination the muscles of the calves are enlarged and firm. There is an exaggerated lumbar
lordosis. He needed to use his hands to stand up from the floor. The gait had a waddling quality. The
eye movements and speech were normal. There was moderate weakness of all limb muscles, worse in
proximal muscles. Sensory examination and deep tendon reflexes were normal.
1) Summarize the case briefly, including neuroanatomic localization and pathogenesis.
2) What is the most likely diagnosis? Name 1-2 alternative diagnoses, and discuss briefly why these
are less likely.
3) What additional information (history, exam, laboratory or other studies, consultations) would you
obtain? What laboratory findings would you expect if your most likely diagnosis is correct?
4) Assuming your most likely diagnosis is correct, how would you manage this patient? Include doses
for one medication you might prescribe, along with an estimate of the cost of a month of your
proposed therapy. How would you counsel the patientʼs parents about his condition and about any
proposed therapy?
Case 27
A 9-year-old boy has been developing calf hypertrophy and leg weakness for about a year. He has
begun to walk on his toes with his back arched. Mild weakness in the shoulders is reported. A maternal
uncle who died of pneumonia at age 20 had a similar condition. A cousin has difficulty walking.
On examination the muscles of the calves are enlarged and firm. There is an exaggerated lumbar
lordosis. He needed to use his hands to stand up from the floor. The gait had a waddling quality. The
eye movements and speech were normal. There was moderate weakness of all limb muscles, worse in
proximal muscles. Sensory examination and deep tendon reflexes were normal.
1) Summarize the case briefly, including neuroanatomic localization and pathogenesis.
2) What is the most likely diagnosis? Name 1-2 alternative diagnoses, and discuss briefly why these
are less likely.
3) What additional information (history, exam, laboratory or other studies, consultations) would you
obtain? What laboratory findings would you expect if your most likely diagnosis is correct?
4) Assuming your most likely diagnosis is correct, how would you manage this patient? Include doses
for one medication you might prescribe, along with an estimate of the cost of a month of your
proposed therapy. How would you counsel the patientʼs parents about his condition and about any
proposed therapy?