Abstract
Angleman syndrome (АS) – is a chromosomal syndrome, which is manifested through atypical autism with feeble minding, epilepsy, outrage of the speech development, movement disorders, ataxia, as well as special (happy) behavior of patients, combined with outbursts of laugh. The disease is caused by the mutation of 15q11.2–13 maternal locus or by the gene of UBE3A ubiquitinated complex. Such genes regulate the functional activity of hippocampus neurons, of olfactory bulbs, of the parastriate cortex, of the tentorium. We demonstrate the atypical AS case, which clinical presentation developed after acute respiratory viral infection with febrile temperature. The disease started with episodes of acute ataxia, interrupting daily activities of the child. Step by step the speech development was regressing – several words have fallen out, leaving the space for babbling sounds. Also appeared stereotypic movements of upper extremities (bending of arms in elbow joints, its retraction and joggling of hands), unmotivated laugh. Due to the nonrelevant starting presentation in the acute period following conditions were differentially diagnosed: 1) opsoclonus-myoclonus syndrome; 2) cerebral circulation diseases; 3) epilepsy with absences and atonic attacks; 4) paroxysmal dyskenisias and ataxias; 5) start of the neurodegenerative disease; 6) early childhood autism. Results of laboratory research allowed to exclude opsoclonus-myoclonus, the magnetic and resonance tomography and vessels research allowed to exclude the cerebrovascular pathology. Changes, revealed in the course of the videoelectroencephalographic monitoring, as well as anamnesis data (clinical symptoms after fever) allowed to narrow the diagnostic search; AS suspected. Provided the combination of ataxia with movement disorders, it was decided to carry out not molecular & genetic, but also micromatrix analysis, in order to exclude the channelopathy, as well as other genetic reasons. The method of polymerase chain reaction did not reveal changes, typical for AS. Anyway, the micromatrix analysis has revealed that the molecular karyotype has got spots with lost heterozygosis of locuses, containing genes, referred to the imprinting phenomena (UBE3A). In such a way, AS was confirmed.
Highlights
GIRL, AS A DEBUT NEUROLOGIC SIGN OF THE ANGELMAN SYNDROME
Angleman syndrome (АS) – is a chromosomal syndrome, which is manifested through atypical autism with feeble minding, epilepsy, outrage of the speech development, movement disorders, ataxia, as well as special behavior of patients, combined with outbursts of laugh
The disease is caused by the mutation of 15q11.2–13 maternal locus or by the gene of UBE3A ubiquitinated complex
Summary
Возникшая после острой респираторной вирусной инфекции у девочки 2 лет, как дебют клинических проявлений синдрома Ангельмана. Синдром Ангельмана (СА) – это хромосомный синдром, проявляющийся атипичным аутизмом с умственной отсталостью, эпилепсией, грубым нарушением речевого развития, двигательными расстройствами, атаксией, а также особым (счастливым) поведением пациентов в сочетании со вспышками смеха. Ключевые слова: острая атаксия, синдром Ангельмана, ген UBE3A, эпилепсия, абсансы, атонические приступы, аутизм, опсоклонус-миоклонус, пароксизмальные дискинезии, пароксизмальные атаксии. Кey words: acute ataxia, Angelman syndrome, UBE3A gene, epilepsy, absences, atonic attacks, autism, opsoclonus-myoclonus, paroxysmal dyskinesia, paroxysmal ataxias. Синдром Ангельмана (СА) – хромосомный синдром, проявляющийся умственной отсталостью, двигательными расстройствами, атаксией, эпилепсией, грубым нарушением речевого развития, а также особым (счастливым) поведением пациентов в сочетании со вспышками смеха [1]. Абсансы могут возникать настолько часто, что развивается клиническая картина эпилептического статуса (пик-волновой ступор), особенно это характерно утром, после пробуждения. Миоклонические приступы могут возникать изолированно (обычно в конечностях и лицевой мускулатуре) или как миоклонический компонент в структуре атипичных абсансов. Valente et al (2003), сочетание клинической картины с характерными изменения-
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
