HSS What's the Diagnosis Case 153

What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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Findings Moderate to severe scoliosis is present but particularly on the smaller field of view images of the lumbar spine there is posterior vertebral body scalloping.

This is confirmed on the MRI images which also demonstrate marked expansion of the thecal sac or dural ectasia. The images of the thoracic spine are a bit more of an “eye test” as the salient finding relates to a sternal deformity with prominent concavity or pectus excavatum. The radiograph of the pelvis shows both femoral heads extending medial to the ischiofemoral line in keeping with acetabular protrusio deformity.

What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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What’s the Diagnosis – Case 153

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Diagnosis: Marfan Syndrome Marfan syndrome is a connective tissue disorder caused by a mutation of one of the genes for fibrillin which leads to abnormal connective tissue throughout the body. The disease affects all aspects of the body but with a strong predilection for the musculoskeletal system, eyes, lungs, cardiovascular system, and nervous system. As relates to the musculoskeletal abnormalities, the most classic finding of elongated, thin, and tapered fingers (archnodactyly) was not shown in this case. Many wrongly think arachnodactyly is pathognomonic for Marfan syndrome but in fact can be found in other connective tissue disorders such as forms of Ehlers-Danlos syndrome. The abnormal connective tissue precipitates scoliosis and allows the abnormal dilatation of the thecal sac or dural ectasia. Likely a combination of intrinsic bony abnormality and the dural ectasia produce the posterior vertebral body scalloping. Other classic deformities are pectus excavatum (inward splaying of the sternum), pectus carinatum (outward splaying), and acetabular protrusio. Related to overall joint laxity, individuals may suffer recurrent dislocations of multiple joints and premature degenerative changes.

Somewhat difficult to glean on the imaging is the typical Marfanoid habitus of a tall and slender individual with long and slender extremities.

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References Imaging of Marfan Syndrome: Multisystemic Manifestations. Hong Il Ha, MD, Joon Beom Seo, MD, Sang Hoon Lee, MD, Joon-Won Kang, MD, Hyun Woo Goo, MD, Tae-Hwan Lim, MD, Myung Jin Shin, MD. RSNA 2007 Education Exhibit Page 989.

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