98th Annual Meeting DOG 2000

P 693

Mucopolysaccharidosis type MPS III-A (Sanfilippo-Syndrome) clinical and histopathological findings in a case with typical ocular manifestation

C.-A. Lackerbauer, G. Rudolph, K.-P. Boergen, A. Kampik

Backround: Mucopolysaccharidosis (MPS) type III-A represents a rare, autosomal-recessive inherited, metabolic disease with lysosomal storage characteristics. Only few proven cases with nearly all systemic changes and typical ocular manifestation have been described.

Methods: The ophthalmological and systemic findings of an 13-year old male patient suffering from MPS type III-A will be pesented. The diagnosis is confirmed by slit-lamp examination, perimetric and electrophysiological findings as well as radiological and biochemical analysis and electron microscopy of fibroblast cells.

Results: With a reduced intelligence clumsy facial changes and behavioural disorders like disorders of speech development, weakness of concentration and sleep disorders are most impressive. The X-ray examination presents sceletal changes like dysostosis multiplex. An atrophia of the optical nerve and circular retinal pigmentary degeneration in the 50° area exist on both eyes. In the Goldmann perimetric examination (III4) a concentric visual field (30°) is seen on both sides. The best visual acuity is 1/20. Amplitudes in the scotopic and photopic ERG are reduced up to 85%. The CPC test of the 24-hour urin was 156,6 Units/gCrea (norm: 0-140) and hexuronacid (54,5mg/gCrea) is 3,5 times normal (norm:9,6-14,8). Fibroblasts of the dermis demonstrate normal activity of b -hexosaminidase (313mU/mg) and a total lack of sulfamidase. Histology of the dermis presents typical conglomeration of storage vacuoles in the stromal cell layer. With transmission electron microscopy the lysosomal storage (heparansulfate) of histiocytes can be recognized.

Discussion: Because of the therapeutical failure of MPS type III-A, the serve lost of the visual acuity and the visual field and the early death of the patients during the second life decade pränatal diagnosis should have a major consideration now a days.

Department of Ophthalmology, Ludwig - Maximilians - Universität, Mathildenstr. 8, D-80336 Munich

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