Purchase this article with an account.
JG Conrath, E Hadjadj, B Roquelaure, B Ridings; Retinal Ischemic Syndrome, Digestive Tract Small Vessel Hyalinosis and Diffuse Cerebral Calcifications: a Pediatric Observation of a Rare Syndrome . Invest. Ophthalmol. Vis. Sci. 2002;43(13):528.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Purpose:to describe a pediatric case of a rare syndrome associating multifocal small vessel hyalinosis with resulting ischemic vasculopathy of the retina, the digestive tract and the brain. Only 3 adult cases of this syndrome have been described in the literature. Methods:case history of a 16 year old patient followed by the pediatric gastroenterology and ophthalmology departments. Results:a child born in 1985 with two normal brothers presented at age 16 months a hemiclonic convulsive attack with major bilateral calcifications seen on the CT brain scan. The clinical state was stable for 8 years and the diagnosis of developmental foetopathy was retained. At age 10, 5 grand mal seizures were followed by severe digestive hemorrages. At this point, ocular fundus examination was performed and peripheral retina ischemic changes were observed, with microaneurysms and shunt vessels developping. CT brain scan was unchanged. Digestive biopsies were performed and showed thickening of small vessel walls by hyalin deposits ; skin biopsy showed accumulation of deposits of membrane-like osmiophilic material beneath endothelial cells around pericytes and smooth muscle cells. Empiric therapy by octreotide allowed for clinical improvement. 4 years later, ophthalmological examination showed major ischemic changes, with preretinal hemorrage, and angiofluorography was performed to guide peripheral retinal laser ablation. Visual acuity remains stable at 20/40 OD and 20/30 OS. Conclusion:This is the first pediatric case of a rare syndrome, only described in three members of one family in western France. Ophthalmological examination showed abnormalities consistent with vascular closure. Genetic study showed a normal caryotype, but has not yet allowed for isolation of a specific mutation.
This PDF is available to Subscribers Only