Musculoskeletal II

This happened while blocking a basketball shot. There is loss of sensation in a "shoulder badge" distribution.

Challenge: What's going on here?

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Musculoskeletal I

This child's deformities involve the proximal bones more than the distal ones. He also has macrocephaly and midface hypoplasia.

Challenge: What autosomal dominant disorder is seen here?

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Biochemistry

Uh oh, it's the glycogen metabolism pathway.

The classic infantile form of this disease presents in the first few months of life with cardiomyopathy and severe generalized muscular hypotonia. At the median presentation age of four months, infants will have cardiomegaly, respiratory distress, muscle weakness, feeding disorders, and failure to thrive. Standard metabolic labs will be normal, but serum creatine kinase will be elevated.

A late onset juvenile or adult form presents without cardiac problems. The age of presentation varies, but the presentation is primarily skeletal myopathy eventually leading to respiratory failure. Children might present with delayed gross motor development, and adults might present with progressive limb girdle weakness (starting with hip flexors). Creatine kinase will be elevated as well.

Challenge: What autosomal recessive disease is this?

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Taking Another Break

Hi everyone,

Thank you all for participating in the last few weeks of cases. It's been a lot of fun but I'm going to take a break to recharge and study for my critical care boards. I'll be back next Monday with new cases.

Craig

Scandinavia II

A 77 year old woman of Scandinavian descent presents with subacute fever, fatigue, and weight loss. She has been undergoing a workup for fever of unknown origin. She is finally referred to a neurologist because of a new headache. The characteristics of the headache, though, are nonspecific. She also has some jaw claudication with a rapid onset of pain once she starts chewing. Still, no diagnosis is made until she presents to the emergency room with transient monocular visual loss. There was a temporary partial field cut that returned when she was in the ER. The ophthalmologic exam was unremarkable.

Challenge: You better make the diagnosis before she has permanent visual loss; what is this?

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Scandinavia I

A 75 year old woman presents with "aches and pains." She complains of soreness and stiffness in her shoulders and hips in the morning. This can last from half an hour to an hour. Her neck and torso are also affected. The symptoms are symmetric. This all started pretty abruptly. The symptoms are so bad she has trouble dressing herself; once, she couldn't even get out of bed. She can't abduct her shoulders past 90 degrees. Nevertheless, she has normal muscle strength. During the rest of the day, the stiffness and ache occurs if she has been sedentary and tries to do something. She also has the findings in the image above. Social history is significant for being of Scandinavian descent. Review of systems is notable for malaise, fatigue, depression, anorexia, weight loss, and low-grade fever.

Challenge: What is your diagnosis?

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