Presentation
Developmental delay, hypertonia, auditory and visual impairment.
Patient Data
Age: 8 months
Gender: Male
From the case:
Krabbe disease
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Symmetrical hyperintensities in bilateral centrum semiovale, corona radiata, posterior limbs of bilateral internal capsules, brainstem and bilateral cerebellar white matter including dentate nuclei.
Increased thickness of intracanalicular and intracranial segments of bilateral optic nerves seen.
Case Discussion
In view of clinical history and characteristic imaging findings, diagnosis of Krabbe's disease was made. Galactosylceramide beta-galactosidase (GALC) activity was found to be low, hence, confirming the diagnosis.
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