Autism with Facial Port-Wine Stain: A New Syndrome? Harry T. Chugani, MD* †‡ , Csaba Juhász, MD, PhD* † , Michael E. Behen, PhD* † , Ross Ondersma, MD* † , and Otto Muzik, PhD* ‡ The hallmark of Sturge-Weber syndrome is leptomenin- geal angiomatosis. Over 15 years, four children were identified (2 boys, age 2.9-6 years) with unilateral facial port-wine stain, referred for presumable Sturge-Weber syndrome but who were also autistic. Computed tomog- raphy and magnetic resonance imaging scans failed to show evidence of leptomeningeal angioma in all four children. Three of the children had a history of seizures. Detailed neuropsychologic testing of three children re- vealed a similar presentation, characterized by develop- mental disturbance, particularly involving delayed onset of language, and early-emerging social atypicality. Positron emission tomography scanning of cerebral glu- cose metabolism revealed hypometabolism in the bilat- eral medial temporal regions, anterior cingulate gyrus, frontal cortex, right temporal cortex, and cerebellum. The pattern of glucose hypometabolism differed from that of 12 children with infantile autism (age 2.7-7.9 years) who had mild left medial temporal but more severe right temporal cortical hypometabolism and showed a reversal of normal frontotemporal asymmetry of glucose metabolism. Unilateral facial port-wine stain and autism with no intracranial angioma on conventional imaging may represent a rare clinical entity distinct from both infantile autism and previously described variants of Sturge-Weber syndrome. © 2007 by Elsevier Inc. All rights reserved. Chugani HT, Juhász C, Behen ME, Ondersma R, Muzik O. Autism with facial port-wine stain: a new syndrome? Pediatr Neurol 2007;37:192-199. Introduction Sturge-Weber syndrome, or encephalofacial angioma- tosis, is characterized by the presence of facial port-wine stain and leptomeningeal angiomatosis [1]. Port-wine stain is seen in 3 per 1000 newborns, but when this birthmark involves only the forehead and upper eyelid, leptomenin- geal angioma is present in 10-20% of cases; the intracra- nial angioma is much less common when the lower face or trunk are affected by the port-wine stain. When present, the leptomeningeal venous angioma is typically unilateral, but it may be bilateral in 10-15% of patients. It may involve the entire hemisphere or a portion (usually the posterior aspect) of the hemisphere, leading eventually to cell death and calcification of the tissue underlying the intracranial angioma. The neurologic consequences of the angioma may include epilepsy, cognitive delay, and hemi- paresis, hemiatrophy, and hemianopia contralateral to the side of the facial port-wine stain [2]. Glaucoma may be present in 30-70% of patients with Sturge-Weber syn- drome. Over 15 years, four children with facial port-wine stain and autism were evaluated at the Children’s Hospital of Michigan, but with no evidence of leptomeningeal angio- matosis or calcifications on computed tomography and magnetic resonance imaging scans. Because these children appeared to be distinct from patients with Sturge-Weber syndrome and from those with infantile autism, classifi- cation for these children was unclear. The goal of the present study was to provide a detailed clinical description of the four children and to compare their positron emission tomography findings with those seen in normal subjects and in infantile autism. From *Carman and Ann Adams Department of Pediatrics, † Department of Neurology and ‡ Department of Radiology, Children’s Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan. Communications should be addressed to: Dr. Chugani; Pediatric Neurology/PET Center; Children’s Hospital of Michigan; 3901 Beaubien Blvd.; Detroit, MI 48201. E-mail: hchugani@pet.wayne.edu Received January 4, 2007; accepted May 14, 2007. 192 PEDIATRIC NEUROLOGY Vol. 37 No. 3 © 2007 by Elsevier Inc. All rights reserved. doi:10.1016/j.pediatrneurol.2007.05.005 ● 0887-8994/07/$—see front matter