Introducere. Sindromul Phelan-McDermid este o tulburare de dezvoltare cu caracteristici variabile, care includ hipoto-nia neonatală, întârzierea globală de dezvoltare, creşterea normală până la accelerată, vorbirea absentă până la întârzierea severă a vorbirii, comportamentul autist şi caracteristici dismorfice minore. Scop. Evaluarea parametrilor clinico-paraclinici a pacientului cu comportament autistic, retard psiho-motor şi convulsii, în scopul confirmării unei maladii rare (sindromului Phelan-McDermid). Material şi metode. Am analizat datele clinice (acuzele la internare, istoricul bolii, anamneza familială, evoluţia manifestărilor clinice, dezvoltării psiho-motorii) şi paraclinice (datele investigaţiilor hematologice, instrumentale, molecular-ge-netice) a unui copil spitalizat în secţia Neurologie (vârstă fragedă) a IMC cu scopul precizării diagnosticului. Rezultate. La internare, la vărsta de 4 ani, manifesta comportament autistic: nu vorbeşte, slab reacţionează la excitanţi auditivi şi vizuali, prezintă semne de autoagresiune şi multiple mişcări posesive, nu se deplasează desinestătător, mersul (cu suport) este legănat, instabil, se împieducă. Frecvent se declanşează convulsiile polimorfe, care sunt rezistente la tratament neurologic. Investigaţiile paraclinice. Investigaţii molecular-genetice. Identificată deleţia heterozigotă la nivelul cromozomului 22q13 implicând exonii 3-18 ai genei SHANK3. În baza datelor clinice şi paraclinice a fost stabilit diagnosticul: Sindromul Phelan-McDermid (OMIM:606232) Concluzii. Sindromul Phelan-McDermid este o patologie multisistemică, care dezvoltă o dizabilitate neurologică severă. Metodele molecular-genetice permit diagnosticul maladiilor rare la pacienţii cu dereglări compartimentale de tip autistic şi sindrom convulsiv refractar la tratament.
Introduction. Phelan-McDermid syndrome is a developmental disorder with variable characteristics, including neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior, and minor dysmorphic features. The cause of the pathology is a 22q13.3 deletion. Objective. Evaluation of clinical and laboratory parameters of a patient with autistic behavior, psychomotor retardation and convulsions, in order to confirm a rare disease (Phelan-McDermid syndrome). Material and methods. We analyzed the clinical data (admission complaints, medical history, family history, evolution of clinical manifestations, and psychomotor development) and paraclinical data (hematological, instrumental, and molecular genetic investigations) of a child hospitalized in the Neurology Department (young age) of IMC to clarify the diagnosis. Results. At admission, at the age of 4 years, the child manifested autistic behavior: no speech, poor reaction to auditory and visual stimuli, signs of self-aggression and multiple possessive movements, inability to walk independently, gait (with support) was swaying, unstable, stumbling. Polymorphic seizures, resistant to neurological treatment, occurred frequently. Molecular-genetic investigations: Heterozygous deletion on chromosome 22q13 involving exons 3-18 of the SHANK3 gene was identified. Based on the clinical and paraclinical data, the following diagnosis was established: Phelan- McDermid syndrome (OMIM:606232). Conclusion. Phelan-McDermid syndrome is a multisystem pathology, which develops severe neurological disability. Molecular genetic methods allow for the diagnosis of rare diseases in patients with compartmental disorders of the autistic type and seizure syndrome refractory to treatment.
