title: Cortical vascular abnormalities in the syndrome of celiac disease, epilepsy, bilateral occipital calcifications, and folate deficiency.
abstract: The pathological changes in the syndrome of celiac disease, folate deficiency, bilateral occipital calcifications, and intractable epilepsy have not been previously described. A child with this disorder had a field defect correlating with active lateralized epileptic discharges and asymmetrical lesions. After resection of the right occipital lobe she was seizure free for 4 years. A cortical vascular abnormality with patchy pial angiomatosis, fibrosed veins, and large jagged microcalcifications was found. These pathological abnormalities were similar though not identical to those found in the Sturge-Weber syndrome.
authors.affiliation: Neurology Department, Prince of Wales Children's Hospital, Sydney, Australia.
authors.forename: A M
authors.initials: AM
authors.lastname: Bye
authors.forename: F
authors.initials: F
authors.lastname: Andermann
authors.forename: Y
authors.initials: Y
authors.lastname: Robitaille
authors.forename: M
authors.initials: M
authors.lastname: Oliver
authors.forename: T
authors.initials: T
authors.lastname: Bohane
authors.forename: E
authors.initials: E
authors.lastname: Andermann
mesh_terms: D002114:Calcinosis / Q000473:pathology* / Q000503:physiopathology / Q000523:psychology; D002446:Celiac Disease / Q000473:pathology* / Q000503:physiopathology / Q000523:psychology; D002648:Child; D004827:Epilepsy / Q000473:pathology* / Q000503:physiopathology / Q000523:psychology; D005260:Female; D005494:Folic Acid Deficiency / Q000473:pathology* / Q000503:physiopathology / Q000523:psychology; D006801:Humans; D007360:Intelligence; D007802:Language; D008279:Magnetic Resonance Imaging; D008568:Memory; D009778:Occipital Lobe / Q000473:pathology*; D013577:Syndrome; D014796:Visual Perception; D014888:Wechsler Scales