Cortical vascular abnormalities in the syndrome of celiac disease, epilepsy, bilateral occipital calcifications, and folate deficiency.
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.
Bye
A M
AM
Neurology Department, Prince of Wales Children's Hospital, Sydney, Australia.
Andermann
F
F
Robitaille
Y
Y
Oliver
M
M
Bohane
T
T
Andermann
E
E
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