Inclusion Cell Disease - A Rare Cause of Megalocornea with Corneal Edema

Abstract

Introduction There are multiple causes of megalocornea and corneal edema in infantile age group. The common causes include birth trauma, Peter’s anomaly, limbal dermoid, sclerocornea, congenital hereditary endothelial dystrophy (CHED), mucopolysaccharidosis and infective/inflammatory process. It is important to consider congenital error of metabolism including mucopolysaccharidosis as an etiology for corneal edema/corneal clouding and megalocornea because these cases are rare and can be easily missed out if not evaluated properly. Case report A 11 month old male child presented with complaints of reduced weight gain, failure to thrive, recurrent respiratory infections and diarrhea. On clinical examination the patient showed coarse facies, flat face, prominent bulging eyes, large tongue, enlarged gums (Figure 1). Perinatal history was normal term vaginal delivery, and he was the first child of non-consanguineous marriage. Ophthalmological examination revealed megalocornea (horizontal corneal diameter of 16 mm – Figure 1) with corneal edema/corneal clouding. Anterior chamber was deep. No cherry red spots were seen on fundoscopic examination. Intra ocular pressure was within normal limits. On Gonioscopy, angles were open. On indirect ophthalmoscopy, the optic disc was of normal size, shape & colour. The optic cup was within normal limit. The neuroretinal rim was healthy. Retinal artery:vein ratio was maintained. The macula was healthy and the foveal reflex was present. MRI Brain was done which revealed T2 hyperintense signal involving cerebral white matter on either side uniformly involving both subcortical and periventricular white matter without abnormal T1 hypointense signal suggestive of Hypomyelination MRI is (Figure 2). T2 hypointense signal was seen in bilateral thalami (Figure 2). Therefore possibility of lysosomal storage disorder was considered. CT skull revealed premature fusion of cranial sutures suggestive of craniosynostosis (Figure 2). No anterior vertebral body beaking was noted on lateral X-Ray of dorsolumbar spine. X-Ray pelvis with femur revealed osteopenia with short thick femur (Figure 3). Ultrasonography of abdomen showed mild hepatosplenomegaly with liver Delhi J Ophthalmol 2018;28;40-1; Doi http://dx.doi.org/10.7869/djo.354 Abstract