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.

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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
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article

A rare presentation of Maroteaux-Lamy syndrome with secondary glaucoma – A case report and review of literature

Dewang Angmo, Karthikeyan Mahalingam, Kanchan Satpute, Anuja Patil et al.
Indian Journal of Ophthalmology - Case Reports
Glaucoma and retinal disorders
article

A rare presentation of Maroteaux-Lamy syndrome with secondary glaucoma – A case report and review of literature

Dewang Angmo, Karthikeyan Mahalingam, Kanchan Satpute, Anuja Patil, Tanuj Dada, Namrata Sharma
article en

Abstract

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.

Indian Journal of Ophthalmology - Case ReportsVol. 4(4)
All India Institute of Medical Sciences (IN)
No poverty
Openalex Percentile: Top 68%
Glaucoma and retinal disorders
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