Coexistence of Neurofibromatosis Type-1, Left Internal Carotid Artery Hypoplasia and Left Phytisis Bulbi

Abstract

Congenital abnormalities of the internal carotid artery (ICA) are extremely rare and aplasia/hypoplasia of the ICA associated with other congenital malformations is uncommon. An 8-year-old male patient was admitted to our hospital for extreme nervousness, attention problems and hyperactivity. On MR examination, left phytisis bulbi, left frontal lobe atrophy, assymmetric dilataion in the left lateral ventricle and hamartomas in both globus pallidi, right thalamus, and bilateral cerebellar hemispheres posterior to the fourth ventricle were observed. Left ICA was observed as hypoplastic in the cervical and cranial MR-angiography. Left MCA and ACA could not be visualised. Left carotid canal hypoplasia and left sphenoidal bone dysplasia were detected on CT. As far as we know, only 4 cases with concomitancy of ICA hypoplasia-NF Type-1 have been reported up to the present. In our case, in addition, phytisis bulbi is accompanying this coexistence.