Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome)


The development of radiological changes in two patients with mucopolysaccharidosis (MPS) Type I H/S is described. Radiological findings reveal enlargement of the sella in one patient, impression of the basilar skull in the other patient. Sclerosis and thickening of the base of skull was observed in both patients. The mandibular necks were short with striking flattening of the superior surfaces of the condyles, when the patients reached adult age. At the age of 12, hypertelorism and spaced teeth were already present in both patients. In addition, they showed early costal, clavicular and scapular changes, irregularities of the acromial joints and acetabulae, hypoplasia of the inferior portion of the iliac bones and flared iliac wings. The flat femurs had short metaphyses and were held in valgus position. Development of dentigerous cysts as well as mandibular changes seem to be rather specific for this variant ofα-L-iduronidase deficiency. In contrast to the classical form of MPS I, skeletal changes of the spine and hands are minimal.

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Schmidt, H., Ullrich, K., von Lengerke, H. et al. Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome). Pediatr Radiol 17, 409–414 (1987).

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