DR. TANMAY GOKHALE

DR. SANDIP SARKAR, DR. NIRUPAMA KASTURI, DR. NINAN P. JACOB

Abstract

Adrenoleukodystrophy (ALD) is a rare X linked disorder characterized by progressive demyelination of the CNS which manifests as dementia, behavioural changes, gait disturbances, sensory disturbances, visual loss. We present the case of a 9 yr old child with no previous neurological deficits presenting with B/L acute painless gross diminution of vision. Neurological examination was WNL with normal VEP and nerve conduction studies.

Ocular examination was WNL. MRI showed changes in the parieto-occipital cortex with a MR spectroscopy signature suggestive of ALD.

Serum cortisol deficiency was present. The child showed further neurological symptoms over the next 3 months and has been on follow up for 6 months with no visual recovery. Although blindness is a common feature of ALD, it only occurs late in the course of the disease. This case highlights the importance of considering inherited neurodegenerative disorders in children with B/L loss of vision but no neurological manifestations.