Childhood adrenoleukodystrophy – Classic and variant – Review of clinical manifestations and magnetic resonance imaging
A 7-year-old male child presented with decreased hearing. Child had normal neurology on examination. Clinical examination revealed bilateral sensorineural deafness. The motor and sensory functions were normal. There were no other positive clinical findings. Motor examination revealed 5/5 power in all 4 limbs; tone was normal but the deep tendon reflexes were exaggerated. Bilateral plantar reflexes were down going. The sensory system and gait was normal and there were no cerebellar signs. The visual evoked potential (VEP) and nerve conduction studies were normal.\nMagnetic Resonance Imaging (MRI) performed on a 1.5 Tesla system (MagnetomAvanto, Siemens, Germany) revealed the following findings as displayed in . Bilateral symmetrical linear and patchy areas of altered signal intensities were noted in the splenium and bilateral parieto-occipital white matter. Similar signal intensities were seen involving the medial geniculate bodies, extending to involve the region of the lateral lemniscus and along the brainstem. These regions appear significantly hypointense on T1 weighted and hyperintense on T2 weighted and FLAIR (fluid attenuated inversion recovery sequence) images. There were no signal intensities involving the corticospinal tracts or bilateral internal capsules. Post-contrast study showed typical peripheral enhancement in the corresponding areas of the parieto-occipital white matter and rim like restricted diffusion on diffusion weighted imaging (DWI). Such imaging features were consistent with pathognomonic description of ALD.