DR. DIMPLE SHAJI

DR. NIVEDHITHA NIKHIL

Abstract

X-linked adrenoleukodystrophy (X-ALD) is due to accumulation of long chain fatty acids(VLCFAs) in the tissues. Its clinical manifestations are manifold. Visual changes may be present, but they often appear late.

A case of 7 year old boy with X-ALD, whose first symptom was decreased vision followed by squint and decreased hearing. VA was CF 2 m in right eye and 1/2m in left eye. Krimsky test showed 40pd exotropia. Fundus- bilateral temporal pallor of discs. FF ERG -normal scotopic, photopic responses, reduced amplitudes. Disc pallor and hearing loss prompted for MRI brain- features suggestive of X-ALD. Trial of IV steroids was given. The measurement of VLCFA in plasma with evidence of their increase, confirmed the diagnosis.

Conclusion:A high index of suspicion is required for X-ALD, which affect the cortical routes related to vision, even in the absence of neurological symptoms. Ophthalmologist consult is relevant as fundus finding indicate visual impairment can evolve very quickly