Krabbe disease – An unusual presentation of optic nerve enlargement

Maria Kaloianova,Jaishree Naidoo,Louisa Bhengu,Heather Thomson

doi:10.4102/sajr.v19i2.887

Abstract

Krabbe disease is an autosomal recessive leukodystrophy that presents clinically with regression of milestones, excessive irritability and inconsolable crying. The pathologic basis of the disease is abnormal myelin metabolism resulting from a deficiency in the galactocerebrosidase enzyme with subsequent white matter destruction. Although optic atrophy is a classic presentation of Krabbe disease, we report on two patients who are biological brothers presenting with optic nerve enlargement in addition to other typical magnetic resonance imaging features of Krabbe disease, thereby confounding the initial diagnosis.

Highlights

Known as globoid cell leukodystrophy, is a lysosomal function disorder that results in demyelination and dysmyelination of white matter
High signal intensities were noted within the white matter of the brachium pontis, cerebellar dentate nuclei and corona radiata with a significant background of cortical and white matter atrophy (Figure 2)
The results revealed the galactocerebrosidase enzyme value to be very low (0.07); this figure is in the range of patients affected with Krabbe disease

Summary

Introduction

Known as globoid cell leukodystrophy, is a lysosomal function disorder that results in demyelination and dysmyelination of white matter. Patient 1 presented in February 2012 to the neurodevelopmental clinic at 7 months of age with excessive inconsolable crying, regression of milestones, numerous café au lait macules and large eyes. Patient 2 presented in November 2014 at 5 months of age with regression of milestones, excessive crying that was difficult to soothe, numerous café au lait macules, large eyes and a relative macrocephaly. Birth history was non-contributory and the child developed normally up until 3 months of age. Specific enzyme testing for Krabbe disease was performed for patient 2 in Philadelphia, USA. Increased T2 and T2 FLAIR signal intensities of the white matter of the brachium pontis and the cerebellar dentate nuclei (Figure 5) were visualised. The midbrain, pons and cerebellum demonstrated increased T2 and T2 FLAIR signal intensities with a significant background of cortical and white matter atrophy (Figure 6)

Discussion

Conclusion