Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome.
Twenty patients affected by bilateral occipital cortical-subcortical calcification (BOC) are described, 19 (95%) had epilepsy. In 8 of 16 cases studied, intestinal biopsy revealed coeliac disease. Fourteen patients had occipital partial epilepsy with a relatively benign outcome, while 4 patients were affected by a severe form of epilepsy, with very frequent, drug-resistant, generalised and partial seizures with mental deterioration. One patient had a single episode of convulsive status epilepticus at four months of age. The neurological examination was normal in all patients. CT showed flocculo-nodular, cortico-subcortical BOC, without enhancement and without lobar or hemispheric atrophy. MRI was normal. The clinical and neuroimaging features of these patients are different therefore from those with the Sturge-Weber Syndrome. The study confirms a high prevalence of coliac disease in patients with BOC, but the relationship between these two pathologies still needs to be clarified.
Magaudda
A
A
Institute of Neurological and Neurosurgical Sciences, University of Messina, Italy.
Dalla Bernardina
B
B
De Marco
P
P
Sfaello
Z
Z
Longo
M
M
Colamaria
V
V
Daniele
O
O
Tortorella
G
G
Tata
M A
MA
Di Perri
R
R
D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000150:complications / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000150:complications* / Q000000981:diagnostic imaging; D002446:Celiac Disease / Q000150:complications* / Q000000981:diagnostic imaging; D002648:Child; D004828:Epilepsies, Partial / Q000150:complications* / Q000000981:diagnostic imaging; D004829:Epilepsy, Generalized / Q000150:complications; D005260:Female; D007839:Functional Laterality; D006801:Humans; D008297:Male; D009778:Occipital Lobe / Q000000981:diagnostic imaging*; D013577:Syndrome; D014057:Tomography, X-Ray Computed