Globoid cell leukodystrophy (Morbus Krabbe) – Case report with characteristic clinical and imaging features

Globoid cell leukodystrophy (Morbus Krabbe) is a rare autosomal recessive disorder involving a deficiency of galactocerebrosidase which causes progressive demyelination and consecutive proliferation of glial cells with globoid cell clusters at the affected sites.

The infantile form is clinically distinguished from the late infantile, juvenile and adult forms.

We present a girl aged 6 months on diagnosis with the typical clinical, laboratory, electrophysiological and diagnostic imaging characteristics of the disease. At 5 months the patient increasingly exhibited periods of restlessness with progressive stiffness and opisthotonic posturing. She could not be pacified. Established motoric abilities and social skills were lost within a few weeks. Clinical neurological findings revealed tetraspasticity with positive Babinski's sign, the deep tendon reflexes in the lower extremities had completely disappeared. Nerve conduction velocity was significantly delayed both in the ulnar nerve and posterior tibial nerve. A typically increased protein concentration of 1.9g/l was found in the cerebrospinal fluid. Diagnostic imaging revealed pathognomonic demyelination around the dentate nucleus of the cerebellum and demyelination of the pyramid tracts, most obviously in the cerebral peduncles (axial T2w). MRI of the spine showed abnormal enhancement of the cauda equina and lumbosacral spinal roots similar to the changes reported in patients with Guillain-Barré syndrome. Activity of galactocerebrosidase in leukocytes was significantly reduced, what confirmed the diagnosis of globoid cell leukodystrophy. The typical molecular genetic mutation on chromosome 14q24–32.1 was not found.

The main focus of the presentation lies on the pathognomonic changes caused by infantile globoid cell leukodystrophy as recognizable on MRT images, which enables confirmation or support of a diagnosis by means of a corresponding image morphology.