Un point d’appel ophtalmologique à l’origine du diagnostic de deux cas de mucopolysaccharidose

Abstract

The mucopolysaccharidoses (MPS) form a group of heterogeneous hereditary lysosomal storage diseases, distinguished by facial dysmorphy in gargoyle-like facies. The enzymatic deficiency involves the degradation of glycosaminoglycans, whose accumulation manifests in severe general and ophthalmologic problems. We report the cases of two 18-month-old girls consulting for corneal clouding and photophobia. The diagnosis was made based on the facial dysmorphy, then biologically corroborated: Scheie's syndrome (MPS type I-S) and Hurler's syndrome (MPS type I-H). The corneal clouding was isolated or associated with bilateral disc swelling. Enzyme replacement therapy was instituted in both cases while waiting for bone marrow transplantation, with a better prognosis in the first case because of the type of MPS and the less severe neurological involvement. The accumulation of glycosaminoglycans in ocular tissues can involve stromal opacities, glaucoma, retinopathy, and optic nerve swelling. Whereas the ophthalmological involvement is often secondary, it can lead the ophthalmologist to the diagnosis of MPS. The early diagnosis of MPS, before the onset of neurological signs, is vital, since treatment can stop disease progression. Better knowledge of the clinical signs of MPS on the part of the ophthalmologists could improve the prognosis of these patients.