Portal cavernomatous transformation leading to variceal hemorrhage in Sturge-Webber syndrome. A rare, but possible association.

UNLABELLED: Sturge-Weber syndrome is a rare disorder consisting of a port-wine nevus in the distribution of the ophthalmic branch of the trigeminal nerve and central nervous system malformations. Facial cutaneous vascular malformation, seizures, and glaucoma are among the most common symptoms and signs. The syndrome results from malformation of the cerebral vasculature located within the pia mater, most commonly over the occipital region. These malformations led to venous hypertension and subsequent hypoperfusion on the underlying cortex, causing chronic cerebral ischemia, atrophy, calcification and neurological deterioration. We describe 18-years-old young girl hospitalized for upper digestive hemorrhage that revealed a cavernomatous transformation of portal vein. At the same time, she presents extensive congenital, bilateral port wine stains on the face, epilepsy and glaucoma of the right eye. Computer tomography showed intracranial vascular abnormalities with calcifications, particularly in the right occipital lobe. The clinical presentation and imagistic assessment confirmed the diagnosis of Sturge-Weber syndrome associated with upper non-cirrhotic portal hypertension generated by a malformation of portal vein.

CONCLUSIONS

Upper digestive hemorrhage is a quite rare eventuality in the Sturge-Webber syndrome. Moreover, portal tract malformations with cavernomatous transformation are exceptionally cited in the literature. Despite this rare association, abdominal investigation, as well as computed cranial tomography should be performed in all cases of children that present a facial cutaneous vascular malformation.