A rare presentation of Maroteaux-Lamy syndrome with secondary glaucoma – A case report and review of literature
We present a rare case of MPS VI (Manteaux-Lamy syndrome) with a bilateral cloudy cornea, coarse facies, large tongue, chest deformities, abdominal hernia, and skeletal deformities. Blood tests for lysosomal enzymes showed the absence of serum arylsulfatase B, which confirmed the diagnosis. Ocular examination revealed corneal clouding and an increase in intraocular pressure (IOP) in both eyes. Though less common, glaucoma is difficult to diagnose and manage due to inappropriate IOP recording and poor visualization of the fundus details due to corneal clouding in MPS VI. A detailed evaluation of these patients is required to avoid overdiagnosis.
Authors
- Dewang Angmo (ORCID: https://orcid.org/0000-0001-5413-4811)
- Karthikeyan Mahalingam (ORCID: https://orcid.org/0000-0003-4396-825X)
- Kanchan Satpute
- Anuja Patil
- Tanuj Dada (ORCID: https://orcid.org/0000-0002-3111-396X)
- Namrata Sharma
Institutions
- All India Institute of Medical Sciences (IN)
Publication Details
- Journal
- Indian Journal of Ophthalmology - Case Reports
- Published
- 2024-10-01
- DOI
- https://doi.org/10.4103/ijo.ijo_1274_24
- Primary Topic
- Glaucoma and retinal disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00