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Serial MRI and neurophysiological studies in late-infantile Krabbe disease
D I Zafeiriou1, E M Michelakaki, A L Anastasiou
11st Pediatric Clinic, Aristotelian University of Thessaloniki, Greece.
Insights
This case study details a patient with late-infantile Krabbe disease, highlighting progressive neurological decline. Early diagnosis and serial monitoring are crucial for understanding this rare lysosomal storage disorder.
Area of Science:
- Neurology
- Biochemistry
- Genetics
Background:
- Krabbe disease is a rare, fatal lysosomal storage disorder.
- Late-infantile Krabbe disease presents with progressive neurological deterioration.
Abstract:
We report serial clinical, radiological, and neurophysiological findings of a patient with late-infantile Krabbe disease. At age 13 months, the patient was hospitalized for sudden stiffness and irritability and a diagnosis of spastic diplegia was made. At age 24 months, he was readmitted because of further psychomotor deterioration; neurologically, he manifested severe spastic tetraplegia with optic atrophy. MRI disclosed diffuse high intensity in the cerebral white matter on T2-weighted images. Nerve conduction velocity and evoked potential studies were markedly abnormal, as were the EEG and the EMG. Assay of galactocerebroside beta-galactosidase activity in leukocyte culture disclosed a marked deficiency of the enzyme, confirmatory of the diagnosis of late-infantile Krabbe disease. Serial MRI and neurophysiological studies performed every 6 months for 18 months demonstrated the progressive nature of the disorder, correlating with the clinical deterioration.