A 10-year-old male child presented with the complaints of severe progressive weakness of bilateral lower limbs, imbalance in walking and slurred speech for the past 3 years, and with recent development of visual disturbance, behavioral symptoms and rapid progression of motor weakness. MRI was performed at time of presentation . Diagnosis is?

Correct Answer: X linked adrenoleukodystrophy
Description: Radiological findings of Demyelinating disorders / white matter leukodystrophy - Alexander disease White matter dystrophy of bilateral frontal lobes associated with megalencephaly (large skull) Adrenoleukodystrophy: White matter of bilateral occipital lobes is involved. Shows distinct pattern of enhancement on MRI. Krabbes Disease / Globoid cell leukodystrophy: 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. - Metachromatic Leukodystrophy Deficiency of Aryl sulfatase Deep white matter disease with sparing of subcoical 'U' fibers Lamellated / Tigroid / Leopard skin Appearance on MRI
Category: Radiology
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