Partial Trisomy 18q and Epileptic Spasms Induced by Eating Associated With Bilateral Opercular Dysplasia

摘要

TO THE EDITOR: In 2007, we described the clinical and video-polygraphic features of a patient with reflex periodic spasms triggered by eating [d'Orsi et al., 2007]. The patient was a 30-year-old, right-handed man with severe asphyxia at birth and significant intellectual disability. From the age of 25, he began to experience generalized tonic-clonic seizures, atonic drop attacks and eating-induced repetitive epileptic spasms characterized by sudden head and upper limbs dropping. In particular, during the longer spasms (at least 1 sec) the ictal polygraphy showed a diffuse slow wave complex prevalent on anterior regions with an activation in crescendo-deerescendo on the neck and the right sternocleidomastoideus muscles. Subsequently, chromosome analysis, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (array-CGH) were performed. The array-CGH was carried out using the GenomeARRAY slide (TechnoGenetics Srl-Bouty Spa, Italy), containing 5,380 BAC clones, with a genomic resolution of about 0.5 Mb, and increasing to 0.25 Mb in the subtelomeric regions. These studies revealed the presence of a partial trisomy of chromosome 18 in the 18 ql2.2q22.3 region (partial trisomy 18q; see Fig. 1). The parents had normal karyotypes and array-CGH.