Childhood adrenoleukodystrophy – Classic and variant – Review of clinical manifestations and magnetic resonance imaging
A 6-years-old male child, born out of non-consanguineous marriage presented with regression in milestones since one year. He also had 4-5 episodes of non-projectile vomiting in the past 6 months. On clinical examination, hyperpigmentation of skin, nails, lips, and oral cavity were noted, which had appeared 4 months ago []. On neurological examination the child displayed hyperactivity and was showing easy distractibility. Motor examination revealed 5/5 power in all four 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. An awake-sleep electroencephalogram (EEG) showed slow wave discharges. The VEP and nerve conduction velocity (NCV) studies were normal.\nMRI 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 noted in the brainstem; in the pontine fibers extending into the mid-brain (colliculus, tegmentum, and crus cerebri) and bilateral internal capsules (involving anterior limb and genu and posterior limb) and sub-thalamic region in the region of the pyramidal tracts. Similar signal intensities were seen in the white matter of bilateral cerebellar hemisphere including inferior and middle cerebellar peduncles. These areas appeared significantly hypointense on T1 weighted and hyperintense on T2 weighted and FLAIR images. The post-contrast study showed significant linear and peripheral enhancement in the above areas.\nThere were no areas of restricted diffusion on DWI images. On Magnetic Resonance spectroscopy there was partial N-acetyl aspartate (NAA) loss and partially raised lactate within these hyperintensities.\nIn view of the clinical features of adrenal insufficiency and the MRI features, the diagnosis of ALD was provided.\nBiochemical investigations showed plasma renin to be 4.23 units (high); Plasma aldosterone: 8.7 units (normal). The Adrenocorticotrophic hormone (ACTH) units were more than 1250 units (high). The ACTH stimulation test did not reveal any increase in cortisol levels. The confirmatory test was elevated levels of VLCFAs in plasma. These elevated levels were confirmed in a reputed lab in the USA (United States of America) [].\nThe diagnosis of ALD was provided on the basis of hyperpigmentation of skin and biochemical findings; this being consistent with adrenal insufficiency and the MR findings.