Abstract
We describe the case of a 7-year-old boy who had repeated episodes of prolonged seizures without recovery of consciousness when he arrived at a rural tertiary care teaching institute hospital in Wardha, India. Detailed history of the patient revealed that the child's symptoms began with left exotropia and visual acuity changes, progressing over 6 months to cognitive decline, hearing impairment, pseudobulbar affect, and motor issues, eventually leading to school dropout. Social isolation and difficulty walking also developed as the disease advanced. MRI brain revealed diffuse white matter lesions bilaterally with raised serum ACTH levels of 5 times the normal range associated with raised levels of tetracosanoic acid (C24) and hexacosanoic acid (C26), along with elevated C24/C22 and C26/C22 ratios. The patient was provisionally diagnosed as X linked cerebral adrenoleukodystrophy. Post treatment and stabilization, the patient was seizure-free on antiepileptic medications, however, patient developed blindness, lost mobility, became bedridden, and progressed to a vegetative state within 6 months. Adrenoleukodystrophy (ALD) is a rare X-linked genetic disorder that primarily affects men. It is caused by mutations in the ABCD 1 gene and is characterized by an abnormal build-up of very long-chain fatty acids (VLCFA) in various body tissues, which affect the spinal cord, white matter, and adrenal glands, causing progressive damage and dysfunction at each location. This case highlights the importance of early diagnosis and intervention to slow down disease progression in order to improve outcome. Also, increased awareness among healthcare professionals to help early detect the signs of this disease is of great importance.