Infantile Globoid Cell Leucodystrophy – (Krabbe's Disease) A clinical and genetic study of 32 Swedish cases 1953–1967

Abstract

A series of 32 ases of globoid cell leucodystrophy (GLD) was collected from a 15-year period and studied particularly from clinical and genetic aspects. The series was considered representative of the real occurrence of the disease in Sweden during the period in question.

The clinical picture and the course of the disease were usually surprisingly uniform from case to case. The median age at onset was 4 months and at death 13 months. The course of the disease was divided into three clinical stages, the characteristics of which have been described in detail.

Laboratory aids for diagnosis have been discussed, on the basis of experiences from this series. Histological changes for diagnosis were summarized from studies of biopsy specimens from peripheral nerves and brain.

A geneto-statistical study showed that the probands with GLD did not differ from the standard population in either maternal age or birth rank, that there was no apparent consanguinity in this series, that the estimated incidence was approximately 1.9 × 1O⁻⁵ and that the disease was diffusely spread over the country. Finally from the family analysis it was concluded that GLD is most likely inherited as an autosomal recessive disease.

Keyword

Krabbe's disease - Leucodystrophy - progressive brain disorder in infants