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Retinal Ischemic Syndrome, Digestive Tract Small-Vessel Hyalinosis, and Diffuse Cerebral Calcifications: A Pediatric Observation of a Rare Syndrome
Arch Ophthalmol. 2005;123:1141-1143.
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We describe a pediatric case of a multisystem disorder involving the retina, the brain, and the digestive tract.
Report of a Case
A male child born of unrelated parents in 1985, with 2 healthy brothers, developed normally until age 27 months, when he experienced a hemiclonic convulsive attack. Major bilateral calcifications were seen on the computed tomographic brain scan (Figure 1A). Carbamazepine was prescribed for 8 years; the patient had no relapses, but physical and psychomotor development was subnormal. Developmental fetopathy was diagnosed.
Figure appears in full text version.
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Figure 1. Imaging studies. A, Brain computed tomographic scan showing diffuse bilateral calcifications and low white-matter tissue density predominating in the left hemisphere. B, T2-weighted magnetic resonance image of the brain showing diffuse high signal intensity predominating in the left hemisphere.
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At age 11 years, the patient had several grand mal seizures followed by severe digestive tract hemorrhages. At this point, ocular fundus examination was performed and mild peripheral . . . [Full Text of this Article]
Comment
AUTHOR INFORMATION
John Conrath, MD;
Bertrand Roquelaure, MD;
Marie Chrestian, MD;
Laurence Camoin-Jau, MD;
Elisabeth Tournier-Lasserve, MD;
Bernard Ridings, MD
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