[Type VI-A mucopolysaccharidosis (Maroteaux-Lamy disease). Clinico-pathologic case report].

Abstract:

:In this clinicopathological case report on a 27-year-old man suffering from mucopolysaccharidosis (MPS) type VI-A (Maroteaux-Lamy), histologic findings in both eyes, and histologic and ultrastructural findings in a keratoplasty button are presented for the first time in the German literature. Type VI-A is a very rare type of MPS, very benign as regards mental development. It results in a typical corneal opacification due to massive accumulation of mucopolysaccharides in all corneal layers. The opacification was treated successfully in one eye by penetrating keratoplasty. Thickening of the sclera and the optic nerve sheaths was demonstrated for the first time by computer-assisted tomography. Additionally, bilateral atrophy of the optic nerve, probably caused by elevated intracranial pressure, was found. The differential diagnostic differences between this and other types of MPS and the reason for the two cardinal symptoms (corneal opacification and optic atrophy) are discussed in extenso, and a review of the literature is given.

journal_name

Klin Monbl Augenheilkd

authors

Stürmer J

doi

10.1055/s-2008-1046370

subject

Has Abstract

pub_date

1989-04-01 00:00:00

pages

273-81

issue

4

eissn

0023-2165

issn

1439-3999

journal_volume

194

pub_type

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