BACKGROUND AND PURPOSE: The association of cortical organization disorders with facial hemangiomas or vascular malformations has been described in only a few reports. The purpose of this study was to show the close association of these cutaneous anomalies with cortical dysplasias and intracranial vascular abnormalities. MATERIALS AND METHODS: Five patients, all women, with cutaneous vascular abnormalities, 4 with hemangioma and 1 with vascular malformation, were studied with MR and MR angiography. RESULTS: All 5 of the patients showed cortical dysplasia. The cutaneous lesions involved the left frontal region, ipsilateral to the cerebral hemisphere with cortical dysplasia, in all of the patients. Four patients had seizures that responded well to antiepileptic drugs. Hemispheric hypoplasia was associated with the cortical dysplasia in all 5 of the patients. Arterial abnormalities were found in all of the patients, consisting of aplasia of the ipsilateral internal carotid artery in 2, persistence of the trigeminal artery in 2, persistence of both proatlantal arteries and double kinking in the internal carotid artery in 1, and origin of both anterior cerebral arteries from the same internal carotid in all 5 of the patients, 1 of whom also showed an intracavernous anterior cerebral artery origin of the same side of the hemispheric hypoplasia and polymicrogyria. Seizures and mild psychomotor delay could be caused by the cortical dysplasia and the hemispheric hypoplasia. CONCLUSIONS: The presence of many congenital vascular abnormalities in this series suggests that facial hemangioma and vascular malformations may be in close relationship with cortical and vascular abnormalities. The reason that the vascular and cortical abnormalities occurred in the left side in all 5 of the patients and the mechanism underlying the association of both malformations are unclear. A genetic origin is suggested.
BACKGROUND AND PURPOSE: The association of cortical organization disorders with facial hemangiomas or vascular malformations has been described in only a few reports. The purpose of this study was to show the close association of these cutaneous anomalies with cortical dysplasias and intracranial vascular abnormalities. MATERIALS AND METHODS: Five patients, all women, with cutaneous vascular abnormalities, 4 with hemangioma and 1 with vascular malformation, were studied with MR and MR angiography. RESULTS: All 5 of the patients showed cortical dysplasia. The cutaneous lesions involved the left frontal region, ipsilateral to the cerebral hemisphere with cortical dysplasia, in all of the patients. Four patients had seizures that responded well to antiepileptic drugs. Hemispheric hypoplasia was associated with the cortical dysplasia in all 5 of the patients. Arterial abnormalities were found in all of the patients, consisting of aplasia of the ipsilateral internal carotid artery in 2, persistence of the trigeminal artery in 2, persistence of both proatlantal arteries and double kinking in the internal carotid artery in 1, and origin of both anterior cerebral arteries from the same internal carotid in all 5 of the patients, 1 of whom also showed an intracavernous anterior cerebral artery origin of the same side of the hemispheric hypoplasia and polymicrogyria. Seizures and mild psychomotor delay could be caused by the cortical dysplasia and the hemispheric hypoplasia. CONCLUSIONS: The presence of many congenital vascular abnormalities in this series suggests that facial hemangioma and vascular malformations may be in close relationship with cortical and vascular abnormalities. The reason that the vascular and cortical abnormalities occurred in the left side in all 5 of the patients and the mechanism underlying the association of both malformations are unclear. A genetic origin is suggested.
Authors: C P Hess; H J Fullerton; D W Metry; B A Drolet; D H Siegel; K I Auguste; N Gupta; A N Haggstrom; C F Dowd; I J Frieden; A J Barkovich Journal: AJNR Am J Neuroradiol Date: 2010-08-12 Impact factor: 3.825
Authors: Jack E Steiner; Garrett N McCoy; Christopher P Hess; William B Dobyns; Denise W Metry; Beth A Drolet; Mohit Maheshwari; Dawn H Siegel Journal: Am J Med Genet A Date: 2017-11-24 Impact factor: 2.802