Autism with facial port-wine stain: a new syndrome?
The hallmark of Sturge-Weber syndrome is leptomeningeal 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 tomography 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 revealed a similar presentation, characterized by developmental disturbance, particularly involving delayed onset of language, and early-emerging social atypicality. Positron emission tomography scanning of cerebral glucose metabolism revealed hypometabolism in the bilateral 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.
Chugani
Harry T
HT
Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan 48201, USA. hchugani@pet.wayne.edu
Juhász
Csaba
C
Behen
Michael E
ME
Ondersma
Ross
R
Muzik
Otto
O
D000328:Adult; D001321:Autistic Disorder / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D001921:Brain / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology; D005260:Female; D005947:Glucose / Q000378:metabolism; D006801:Humans; D008297:Male; D009483:Neuropsychological Tests; D019339:Port-Wine Stain / Q000175:diagnosis / Q000378:metabolism / Q000523:psychology*; D049268:Positron-Emission Tomography; D013577:Syndrome
D005947:Glucose