Presentation of

infancy SUMMARY A child is presented with muco-polysaccharidosis VII (3-glucuronidase defi-ciency), bringing to six the number of reported patients with the infantile onset form of this disorder. This patient exhibited the following features, previously unrecognised as part of this syndrome: presentation in the neonatal period, progressive joint contractures, and hydro-cephalus. This child's course and data from published reports indicate that mucopolysac-charidosis VII, unlike the other known muco-polysaccharidoses, is clinically recognisable in the newborn period and is most likely to be associated with moderate mental deficiency which does not progress over time. Mucopolysaccharidosis VII (MPS VII) was first described by Sly et alt in an infant with short stature, skeletal deformities, hepatosplenomegaly, and men-tal retardation. In both leucocyte and fibroblast cultures, a profound deficiency of 3-glucuronidase was identified. Subsequently four additional patients with 3-glucuronidase deficiency presenting in infancy have been described.2 " We have recently evaluated a child with MPS VII who exhibited the following features previously unrecognised as part of this syndrome: presentation in the neonatal period, progressive joint contractures, and hydro-cephalus. The purpose of this report is to delineate further the clinical features of this disorder and to support the concept that there exist at least two forms of MPS VII: an early onset type and at least one other form presenting in the second decade of life. Case report The patient (fig 1) was born after a 40 week gestation to a gravida 5, para 5, 34-year-old white woman and 36-year-old white man. The parents denied con-sanguinity. Gestation was remarkable for decreased fetal activity. Birthweight was 4-2 kg. (90th centile) and length was 55 cm (90th centile). He had coarse facies, a muscular torticollis, generalised contractures, Received for publication 11 July 198