Atypical radiological features of β-glucuronidase deficiency (mucopolysaccharidosis VII) occurring in an elderly patient from an inbred kindred

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Abstract
Sly et al (1973) described the first patient with mucopolysaccharidosis VII and concluded that the condition was autosomal recessive in view of the profound deficiency of β-glucuronidase in the affected patient and intermediate levels in his parents. The classical clinical picture consists of mental retardation, failure to thrive, hepatosplenomegaly, macrocephaly, dysostosis multiplex and inconstant corneal clouding. However, this can vary as shown by the further 20 patients (Bernsen et al, 1987) described since 1973. For example, two patients have died in the neonatal period with hydrops, while three adult patients have been asymptomatic. In addition, one sister, clinically affected like her two siblings, had a level of β-glucuronidase that was in the heterozygote range (Bernsen et al, 1987) so that even the enzyme levels do not correlate with the clinical picture. This patient, now 37 years old, was born in Pakistan, and came to this country in 1984. Deformed feet were noticed at birth and he did not walk until the age of 7 years. His height was normal as a child, but as he aged, short stature became apparent and the joints of his hands became swollen. He has had two herniorrhaphies; he is not deaf nor has he had attacks of rhinitis. On examination, he is severely mentally retarded, is very short (height 144 cm) and has a large head (90th centile) and coarse facial features (Fig. la).