CTICasesHunter Syndrome (Mucopolysaccharidosis Type II)
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Imaging findings
CT demonstrates markedly abnormal, flattened, and sclerotic bilateral humeral heads. All ribs are enlarged with a pectus carinatum-like deformity, and vertebral bodies are irregular along their endplates. The skin and dermis are markedly thickened, as are the fascial planes. The trachea is diffusely thickened, calcified and there is tracheomalacia and thickened bronchi.
Key takeaways
Hunter syndrome, a type of mucopolysaccharidosis, leads to diffuse deposition of glycosaminoglycans throughout tissues. Radiologically, this manifests as widespread skeletal abnormalities including flattened/sclerotic humeral heads, enlarged ribs, and irregular vertebral bodies. Soft tissue involvement includes marked thickening of the skin, dermis, and fascial planes, as well as diffuse thickening of the trachea and bronchi, often accompanied by tracheomalacia.
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