Adrenoleukodystrophy Presenting as Gait Disturbance in a Girl Child

Adrenoleukodystrophy (ALD) is an X-linked disorder characterized by the accumulation of saturated very long chain fatty acids (VLCFAs) and a progressive dysfunction of nervous system and/ or adrenal cortex. It is the most prevalent peroxisomal disorder and is caused by mutations in the ABCD1 gene located on the X chromosome. We are presenting a case of an 11 years old female child presented to pediatric OPD with complaints of difficulty in walking for last 2 years and progressively worsening scholastic performance. Child was conscious, oriented with stable vitals and normal anthropometry. On central nervous system (CNS) examination, she had hypertonia in bilateral lower limbs with exaggerated deep tendon reflexes (DTR) in bilateral lower limbs and brisk in upper limbs. Superficial reflexes, sensory system, cranial nerve examination and higher mental functions were normal. Contrast enhanced magnetic resonance imaging (CEMRI) brain showed altered signal intensity in periventricular region of bilateral occipital horns, suggesting adrenoleukodystrophy. Further, elevated VLCFA levels confirmed the diagnosis and child was managed conservatively with physiotherapy and occupational therapy. On follow up, the child showed improvement in terms of decreased hypertonia and improved gait. X-linked ALD can be diagnosed early with appropriate investigations. Although, available treatment options are limited but timely initiation of behavioral, occupational and physiotherapy can minimize the physical and mental restrictions.