[Cerebral malformations in the oro-facio-digital syndrome of Papillon-Leage and Psaume (author's transl)].
Six children with an oro-facio-digital syndrome (Papillon-Leage and Psaume) underwent pneumoencephalography. In 3 cases, the examination was normal. In 3 cases, severe abnormalities were discovered. These abnormalities included: agenesis of the corpus callosum (3/3); a markedly asymmetric skull with enormous porencephalic cavities (2/3); heterotopia of the grey matter (2/3). There were no differences in neurological state nor I.Q. between the children with cerebral malformations and those with a normal pneumo-encephalogram. The association of agenesis of the corpus callosum and porencephaly is significant, and even more so if heterotopia is also present. In the presence of these abnormalities, the diagnosis of oro-facio-digital syndrome may be made even when the clinical picture is untypical.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities*; D001927:Brain Diseases / Q000000981:diagnostic imaging; D002551:Cerebral Ventricle Neoplasms; D002828:Choristoma / Q000000981:diagnostic imaging; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000000981:diagnostic imaging*; D011011:Pneumoencephalography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome
Les malformations cérébrales dans le syndrome oro-facio-digital de Papillon-Leage et Psaume