Infantile Metachromatic Leucodystrophy

Metachromatic leucodystrophy is an uncommon type of diffuse cerebral sclerosis. This condition is found at various ages, but it is convenient to classify cases into congenital, infantile, juvenile, and adult varieties. The infantile form, which presents a fairly constant clinical and pathological pattern, was first described by Greenfield (1933) who recorded two cases, and four further examples were reported by Russell Brain and Greenfield (1950). Jervis (1960) found 10 cases in the literature with pathological observations and described two more. To these should be added one recorded by Jacobi (1947) in which metachromasia was subsequently demon- strated by Diezel (1957), and another briefly reported by Peiffer and Hirsch (1955). Other cases have recently been described by Norman, Urich, and Tingey (1960) and by Hagberg, Sourander, Svenner- holm, and Voss (1960). This report describes the pathological and biochemical observations made in a further case.