American Journal of Medical Genetics 103:172±175 (2001) Benign Idiopathic Partial Seizures in the Velocardiofacial Syndrome: Report of Two Cases Giangennaro Coppola, Nicola Sciscio, Francesco Russo, Graziella Caliendo, and Antonio Pascotto* Department of Pediatrics /Clinic of Child Neuropsychiatry, Second University of Naples, Italy We describe two children with the velocar- diofacial syndrome and benign partial-onset seizures. Both presented with slight dys- morphic traits, mild to moderate mental delay, and high-arched palate. A cardiac defect was present in only one of them. In each patient, sporadic rolandic or occipital partial-onset seizures with the clinical and electroencephalographic features of benign idiopathic childhood epilepsy manifested at age 3 and 5 years, respectively. Treatment was started only in one patient, with com- plete seizure control. These two cases show that benign partial epilepsy can be a com- ponent manifestation of the central nervous system±related symptoms of the velocardio- facial syndrome. ß 2001 Wiley-Liss, Inc. KEY WORDS: idiopathic partial seizures; velocardiofacial syndrome; chromosome 22q11 deletion INTRODUCTION The velocardiofacial syndrome (VCFS) or Shprintzen syndrome is a well-known, relatively common condi- tion, whose major clinical ®ndings include a chara- cteristic pattern of facial anomalies, cleft palate, cardiovascular malformations, and (mostly mild to moderate) mental retardation or learning disabilities [Shprintzen et al., 1978; Shprintzen, 2001]. The syndrome is caused by a microdeletion of chromosome 22 q11.2 and, although it is inherited in an autosomal dominant manner, there is no single gene that is expressed as a dominant mutation. Recently, some reports have suggested the potential role of one candidate gene, Tbx1, as responsible for the cardiovas- cular defects in VCFS [Merscher et al., 2001; Lindsay et al., 2001; Jerome and Papaioannou, 2001]. Most reported cases are sporadic, and some of them have a mild phenotypic expression [Meinecke et al., 1986]. Apart from mental delay or learning disabilities, cen- tral nervous system disorders appear as mental illness and disturbance of mood, or by nonspeci®c structural brain anomalies [Meinecke et al., 1986; Bird and Scambler, 2000]. Epileptic seizures have also been reported [Shprintzen, 2000, 2001], clearly caused by malformative or clastic brain disorders in a few patients [Alla et al., 1999; Bird and Scambler, 2000]. Herein we report two children with VCFS and benign, idiopathic, partial-onset seizures. CLINICAL REPORTS Patient 1 This 12-year-old boy is the second child of a non- consanguineous couple. His mother and father were 38 and 41 years old, respectively, at the time of his birth. The pregnancy was complicated by threatened abortion at 2 months of gestation. Delivery was at term by cesarean section; birth weight was 2,900 g and head circumference measured 34 cm (10th centile). By 18 months of age, he was exhibiting a mild delay in his motor milestones. At 16 months, brief, repetitive jerks involving the left upper and lower limbs were noticed soon after he would fall asleep. Such episodes mani- fested for a few days, then disappeared. A computed tomography (CT) scan was unremarkable. At the age of 3 years, language was hypernasal and limited to a few words and the child was started on a speech therapy program. At this age, sleep problems such as apneic episodes and snoring were also reported. An electroencephalogram (EEG) recording at 4 years showed sporadic slow spike and wave complexes in the right temporoparietal region (Fig. 1b). At 5 years, two other episodes during drowsiness characterized by oropharyngeal vocalization, deviation of the buccal angle to the left, and clonic jerks localized in the left arm were noticed by the parents. At this age, a cerebral magnetic resonance imaging (MRI) scan was unremarkable. Serial EEGs at age 5 and 7 years, respectively, con®rmed the paroxysmal epileptiform discharges over the right temporocentral region. No treatment was started and no other episodes were reported till the age of 12 years, when EEG recordings were normal (Fig. 1b). At 10 years, chromosome analysis by ¯uorescence in situ hybridization disclosed *Correspondence to: Prof. Antonio Pascotto, Clinica di Neurop- sichiatria Infantile, Seconda Universita Á di Napoli, Via Pansini, 5 80131, Napoli, Italy. E-mail: antonio.pascotto@unina2.it Received 9 January 2001; Accepted 4 June 2001 ß 2001 Wiley-Liss, Inc.