Institution: | 1. Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;2. https://orcid.org/0000-0003-4417-1672;3. Chiara Pantaleoni, Developmental Neurology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11 ‐ 20133 Milan, Italy.;4. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Alta Intensità di Cura, Milan, Italy;5. Pediatric Neurology Unit—Vittore Buzzi Children's Hospital—ASST Fatebenefratelli‐Sacco, Milan, Italy;6. Laboratory of Cytogenetic, Neurological Biochemistry and Neuropharmacology Unit, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;7. Neurophysiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;8. Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy |
Abstract: | Potocki–Lupski syndrome is a condition mainly characterized by infantile hypotonia, developmental delay/intellectual disability (DD/ID), and congenital anomalies, caused by duplications of the 17p11.2 region, encompassing RAI1 gene. Its clinical presentation is extremely variable, especially for what concerns the cognitive level and the behavioral phenotype. Such aspects, as well as the dysmorphic/malformative ones, have been covered by previous studies; otherwise neurological features have never been systematically described. In order to delineate the neurological phenotype of Potocki–Lupski Syndrome, we collect an 8‐patients cohort. Developmental milestones are delayed and a mild to moderate cognitive impairment is present in all patients, variably associated with features of autism spectrum disorder, behavioral disturb, and sleep disturb. Hypotonia appears a less frequent finding than what previously reported, while motor clumsiness/coordination impairment is frequent. EGG registration demonstrated a common pattern with excess of diffuse rhythmic activity in sleep phases or while the patient is falling asleep. Brain MRI did not reveal common anomalies, although unspecific white matter changes may be present. We discuss such findings and compare them to literature data, offering an overview on the neurological and cognitive‐behavioral presentation of the syndrome. |