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Findings: AP and lateral view of the chest and an AP and frog-leg lateral view of the hips were obtained. On the AP view of the chest all of the visualized ribs are wide and flared. In addition the visualized portions of the proximal humeri demonstrate enlargement of the shaft with cortical thinning.

Lateral view once again demonstrates flaring of the ribs. In addition, there is a thoracolumbar kyphosis with a lumbar gibbus deformity. There is also beaking of the anterior aspect of the T-12, L-1 and L-2 vertebral bodies.

Evaluation of the pelvis reveals widely flared iliac wings with constriction of the iliac bones.

Diagnosis:Mucopolysaccharidosis of the Hurler's type.

Discussion: Hurler's syndrome is one of the genetic mucopolysaccharidosis. It is also known as MPS 1H, gargoylism, dysostosis multiplex, lipochondrodystrophy and Hurler-Pfaundler syndrome. Manifestations of Hurler's comprise a wide range of skeletal deformities, clouding of the cornea, hepatosplenomegaly, and mental retardation. The incidence is one in one thousand births. It is an autosomal recessively inherited abnormality of mucopolysaccharide metabolism in which dermatan sulphate (chondroitin sulphate B) and heparin sulphate accumulate intracellularly due to deficiency of the lysosomal enzyme hyaluronidase. Clinical findings become evident by one to two years of age with skull changes being the earliest manifestations. Death occurs by age ten to fifteen years of age. Radiologic findings include a large skull with frontal and occipital hyperostosis, hypertelorism, long shallow sella turcica with anterior pocketing demonstrating the J sign, and facial bone deformities. Vertebral bodies may show wedge-shaped deformities and anterior hook-like projections. The ribs are often broad and canoe paddle shaped. Terminal phalanges of the hands can be broad and short. The long bones may show swollen shafts secondary to medullary cavity expansion. There is often cardiomegaly and pulmonary edema. Diagnosis is based on urine evaluation for increased mucopolysaccharides, blood and bone marrow analysis, and clinical features.

References:
Greenfield: Radiology of Bone Diseases, Fourth Edition, 280-285.

Dahnert: Radiology Review Manual 1989, 71-72.

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