About the Journal | Editorial Board | Instructions to Contributors | Submission & Review | Advertise with Us | Subscribe to E- Alerts
Sitemap | Feedback | Follow Us 
Advanced search
The Official Scientific Journal of Delhi Ophthalmological Society
Inclusion Cell Disease - A Rare Cause of Megalocornea with Corneal Edema
Namrata1, Rahul Ranjan2, Gaurav Arya3 
1Department of Ophthalmology, Sadguru Netra Chikitsalaya, Madhya Pradesh, India
2Department of Radio-Diagnosis, Rama Medical College, Kanpur, Uttar Pradesh,India
3Department of Paediatrics, Rama Medical College, Kanpur, Uttar Pradesh, India
Corresponding Author:
Rahul Ranjan 
MD, DNB
Associate Professor, 
Rama Medical College, 
Mandhana, Kanpur, Uttar Pradesh, India
Email id: rahulranjanradio10@gmail.com
Published Online: 30-APR-2018
DOI: http://dx.doi.org/10.7869/djo.354
Abstract
Inclusion cell disease (I cell disease), also known as mucolipidosis type II, is a rare congenital metabolic storage disorder which seemingly occupies an intermediate position between mucopolysaccharidosis and sphingolipidosis.1 We are hereby presenting a case of I cell disease that presented with megalocornea and corneal edema/corneal clouding. 
Keywords : Inclusion cell disease, mucolipidosis, sphingolipidosis, megalocornea, corneal edema, corneal clouding.
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 dorso-lumbar spine. X-Ray pelvis with femur revealed osteopenia with short thick femur (Figure 3). Ultrasonography of abdomen showed mild hepatosplenomegaly with liver function test showing mildly elevated bilirubin and liver enzymes with changes of mild cholestasis. Thus, a high suspicion of Inclusion cell disease was made which was confirmed on lysosomal enzyme activity.



Discussion

Mucolipidosis is a rare congenital error of metabolism that has an intermediate position between mucopolysaccharidosis and sphingolipidosis.1 The significant ocular manifestation of mucolipidosis are common to both mucopolysaccharidosis and sphingolipidosis. These ocular manifestation are variable and include corneal clouding in generalized gangliosidosis, mucolipidosis type I, II, III and macular cherry red spots in generalized gangliolipidosis, mucolipidosis type I and Farber’s disease. Mucolipidosis type II, the I-cell variant, is a rare disorder which was first described in 1967 by Leroy and De Mars,2 who found coarse cytoplasmic inclusions in cultured fibroblasts (which they designated I-cells or inclusion cells) from two children with this disease. It is transmitted as an autosomal recessive trait which is present at birth and is associated with severe psychomotor retardation, early cessation of growth, Hurler-like facies with characteristic gingival hyperplasia, and extreme skeletal dysplasia. Additional clinical signs include mild hepatic enlargement restricted joint mobility, and unusually tight skin.3 Luchsinger et al4 have described corneal opacities in case of probable Mucolipidosis type II with absent macular cherry-red spot. Early eye involvement has also been described with I-cell disease in other studies. Of 35 patients with I-cell Disease studied by Libert J et al, the most frequent ocular finding was corneal clouding (14 cases), glaucoma (2 cases), or megalocornea (2 cases).5 There were no descriptions of macular cherry-red spots, a frequent later finding in several of the Lysosomal storage disorders. Ultrastructural study of the eyes in 7 affected patients revealed changes in the conjunctival, corneal, scleral, and uveal fibroblasts, whereas other cells were not damaged.

Neonatal hepatosplenomegaly has also been described in cases of I-cell disease and multiple sulfatase deficiency.6-8 I-cell disease has been described together with craniosynostosis in the neonate in a few cases. Prenatal development of short femurs has also been seen in I-cell disease and must be differentiated from neonatal osteogenesis imperfecta.9 I-cell disease should be part of the differential diagnosis of significant craniosynostosis in the neonate or prenatal diagnosis of short femurs, especially if coarse facies is seen postnatally.10 Thus in cases of infants presenting with megalocornea & corneal edema, the possibility of I- cell disease should be kept in mind if associated coarse facies are present & these cases should be further evaluated with MRI brain, ultrasound abdomen & skeletal survey.

References
  1. Spranger JW, Wiedemann HR. The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik 1970; 9:113-39.
  2. Leroy JG, Demars RI. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science 1967; 157:804-6.
  3. Güngör N, Coskun T, Akçören Z, Caglar M. I-cell disease: a case report and review of the literature. Turk J Pediatr 1994; 36:145–52.
  4. Luchsinger, U., Buhler, E. M., Menes, K., and Hirt, H. R.: I-cell disease, N, Engl. J. Med. 282: 1374, 1970.
  5. Libert J, Van Hoof F, Farriaux JP, Toussaint D. Ocular findings in I-cell disease (mucolipidosis type II). Am J Ophthalmol 1977; 83:617–28. 
  6. Perlmutter-Cremer N, Libert J, Vamos E, Spehl M, Liebaers I. Unusual early manifestation of multiple sulfatase deficiency Ann Radiol (Paris) 1981; 24:43–8. 
  7. Burk RD, Valle D, Thomas GH, Miller C, Moser A, Moser H, et al. Early manifestations of multiple sulfatase deficiency. J Pediatr 1984; 104:574–8.
  8. Lalwani SG, Kher A, Shridhar N, Bharucha BA, Naik GG. Mucolipidoses-II: a report of three cases. Indian J Pediatr 1995; 62:611–4.
  9. Yuksel A, Kayserili H, Gungor F. Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two cases. Fetal Diagn Ther 2007; 22:198–202.
  10. Aynaci FM1, Cakir E, Aynaci O. A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis. Childs Nerv Syst 2002; 18:707–11.
Article Options
FULL TEXT
ABSTRACT
PDF
PRINTER FRIENDLY VERSION
Search PubMed for
Search Google Scholar for
Article Statistics
CITE THIS ARTICLE
Namrata, Rahul Ranjan, Gaurav AryaInclusion Cell Disease - A Rare Cause of Megalocornea with Corneal Edema.DJO 2018;28:40-41
CITE THIS URL
Namrata, Rahul Ranjan, Gaurav AryaInclusion Cell Disease - A Rare Cause of Megalocornea with Corneal Edema.DJO [serial online] 2018[cited 2018 Aug 19];28:40-41. Available from: http://www.djo.org.in/articles/28/4/Inclusion-Cell-Disease.html
Bookmark and Share