Dr. MOUSUMI BANERJEE

Dr.NRIPEN GAUR

Abstract

A 9 yr male child presented with gradual progressive painless diminution of vision in BE since 18 months with well defined discrete hyperpigmented ,hyperkeratotic papules of 3-5mm in right axilla,B/L neck folds ,nape of neck, groin and popliteal fossa.H/O polyuria and excessive thirst was present.

BCVA in RE was 20/100 and counting fingers at 2m in LE. Anterior segment was WNL. Pupil light reflex was sluggish B/L. Symmetric total disc pallor with well defined margins noted in BE.

MRI brain revealed multiple T1 hypointense and T2/FLAIR hyper enhancing lesions in brain parenchyma,optic chiasma upto floor of lateral ventricle.

Skin biopsy revealed diffuse histiocytic infiltration with foam cells with CD68 positive and negative for S100 protein.A diagnosis of XD was made and treated with cladribine injection with alleviation of symptoms. VA remained stable.

He had progressive XD involving chiasma .Thus,early and appropriate neuroimaging should be done in unexplained B/L primary OA.