Case report The first child of a non-consanguinous white couple was born at appropriate weight for gestational ageat 32 weeks' gestation. There was no family history of birth defects, skin disorders, or haematological problems. At birth the baby had moderate ichthyosis with ectropion and some restriction ofmovement of the digits, presenting as a mild form of the'collodion baby'phenotype. Hepatosplenomegaly was noted. The ichthyosis improved over the first 10 days, thrombocytopenia developed, and the baby's condition deteriorated with apnoea, suspected infection, and jaundice. Because of the report of Lui et al, leucocyte enzyme assays were performed and showed a gross deficiency in the, l glucocerebrosidase activity measured with the natural, B glucocerebroside substrate (53 pmol/min/mg protein, normal 600-3200) or the artificial 4mu substrate (19 pmol/min/mg protein, normal 60-220). The child died at the age of 3 weeks and postmortem liver histopathology confirmed a diagnosis of Gaucher's disease. This is the third reported case in the same city in Australia. The family in Lui et al came from the western suburbs of Sydney.'The families were unrelated. We suspect that this diagnosis may be being overlooked in the differential diagnosis of ichthyosis in the neonatal period.

The reason for the association is by no means certain. Other associations with disorders of lipid metabolism and ichthyosis include X linked ichthyosis with steroid sulphatase deficiency, neutral lipid storage disease, Refsum's disease, and multiple sul-phatase deficiency. Alternatively, it was suggested by Lui et al, the combination may represent manifestation of a contiguous gene disorder.'