Hurler Syndrome : A Case Report.

The mucopolysaccharidosis (MPS) form a group of heterogeneous hereditary lysosomal storage diseases, characterized by a "gargoyle" facies.

The enzyme deficiency concerns the catabolism of glycosaminoglycans, the accumulation of which leads to serious general and ophthalmological disorders.

The precocity of the diagnosis of MPS, before the formation of neurological deficits, has become essential, since the treatment can stop its evolution. Thus, a better knowledge of the clinical picture by ophthalmologists could improve the prognosis.

We report the case of a 7-year-old girl, consulting for a bilateral decrease in her visual acuity with photophobia.

The ophthalmological examination showed corneal opacities associated with bilateral papilledema with an IOP of 18mmHG for the eye right and 19 mmHG for the left eye.

Abdominal examination finds a protruding abdomen with hepatosplenomegaly.

Cardiovascular examination  finds a thickening of the mitro_aortic and tricuspid valves.

The diagnosis was evoked in front of the facial dysmorphism then confirmed biologically (MPStype I-H).

A bilateral trabeculectomy was performed while waiting for a marrow allograft.

The accumulation of glycosaminoglycans, present in various forms in the ocular tissues, can lead to stromal opacities, secondary glaucoma, pigmentary type retinopathy, and/or papilledema. While the ophthalmological involvement is often in the background, it can however lead the ophthalmologist to the diagnosis of MPS.

There are not many avaliable treatment options for Late Hurler Syndrome. But during the recent technological advancement, there are some options. The treatment technique depends on the condition of the individual and the affected organs. Bone marrow transplant can improve the symptoms. It should be performed at very beginning to prevent mental retardation, after whole body radiation therapy.

There is a new technique, which uses the umbilical cord for transplants. In this technique, stem cells provided by the donor are transplanted and are as 
effective as bone marrow transplantation. thus, this technique does not require total radiation before transplantation. The third technique, also in place is 
the enzyme replacement. 
Children with severe Hurler syndrome have progressive mental retardation and a short life span is expected.