Roentgen Findings in Mucolipidosis III (Pseudo- Hurler Polydystrophy)

The skeletal changes seen in 6 patients with mucolipidosis III (pseudo-Hurler polydystrophy) are described: these include claw hands, flattening of the femoral epiphyses, platyspondyly, and flaring of the iliac wings. These changes are variable and not sufficiently characteristic to permit differentiation from certain mucopolysaccharidoses and other mucolipidoses on radiological grounds alone. Correlation with the clinical findings (particularly the onset and progression of symptoms, the degree of physical and mental retardation, and the normal excretion of acid mucopolysaccharides in the urine) is necessary for a specific diagnosis.