A case of galactosaemia with special reference to mental development.

Galactosaemia was originally described by von Reuss in 1908 and since then a number of cases have been reported. From a study of these a fairly characteristic picture is presented, the most constant features being failure to thrive, hepatomegaly, galactosua and albuminuria. Other less constant features are mental retardation, jaundice, vomiting, cataract, pyrexia, diarrhoea and a tendency to bleed. From a description of reported cases the disease appears to vary considerably in its severity. Some patients die in early infancy and, judging from retrospective studies, perhaps some die undiagnosed. Other cases appear to be kss severe and may not be diagnosed for several months. One patient reported by Donnell and Lann (1951) was not diagnosed for 13 months though he had had 'nutramigen' for a period. Bray, Isaac and Watkins (1952) report a case diagnosed at 7 years. With treatment by excluding lactose from the diet many of the clinical features, such as galactosuria and hepatomegaly, disappear and the patients show rapid improvement in physical development. Fox, Fyfe and Mollison (1954) suggest that if therapy is begun early the manifestations of the disease may be reversible, but if delayed, prognosis is poor. The purpose of this paper is to record the clinical picture and development of a severe case diagnosed in early infancy and kept on a lactose-free diet except for the first month, at which time the diagnosis was presumed, and a period of 14 days when the child was transferred to University Colkge Hospital under Dr. C. E. Dent for confirmation of the diagnosis and for reassessment of his tolerance to galactose. During this latter period the mechanism of amino-aciduria was investigated, and the results of this investigation are presented by Cusworth, Dent and Flynn in the following paper.