The purpose of this work is to demonstrate the possibility of applying the case method for teaching the diagnosis of orphan diseases on a specific example. The article presents the possibilities of virtual diagnostics of a rare clinical case — a combination of two hereditary diseases: Angelman and Wiedemann—Steiner syndromes. The authors have developed a web application that allows you to reproduce the process of differential diagnostics using multimedia technologies. At each stage of virtual diagnostics, it is necessary to analyze the information received so far about the patient, determine the plan for further examination, refer the patient for consultations to specialists and form diagnostic hypotheses. To assess the correctness of the choice of the doctor’s actions, questions are provided. As a result of passing the case, an integral score is calculated and displayed on the screen — the sum of points for correct answers. Repeated passage of virtual diagnostics usually increases the quantitative criterion, and most importantly helps to consolidate the knowledge necessary for proper diagnosis. An interactive clinical case can be used in the process of training students at medical universities as an additional tool, as well as to improve the skills of pediatricians who can meet with this pathology in their practice. The use of the case-based learning in the educational process allows not only to conduct the learning doctor through the stages of the virtual diagnostic process but also to assess the correctness of the choice of the option of their actions, to explain the wrong decision in a particular situation.

Angelman syndrome is a genetic disorder characterized by mental retardation and severe speech delay, movement disorders and ataxia, dysmorphic features, and behavioral disorders. Angelman syndrome is caused by the loss of the 15q11.2-q13 region of chromosome 15 received from the mother, which leads to a violation of the expression of the UBE3A gene.Purpose. To analyze clinical manifestations in children with Angelman syndrome to identify early-onset and characteristic clinical signs.Characteristics of children and research methods. The study included 60 children. In all cases, Angelman syndrome was diagnosed on the basis of international clinical criteria and the results of genetic testing. The researchers used clinical, functional and molecular genetic research methods.Results. 80-100% of children demonstrated delayed mental and motor development, lack of speech, affective behavior, ataxia, hand stereotypes, apraxia of hand movements, strabismus, sialorrhea. 72% of children had epileptic seizures; all patients (regardless of the presence / absence of epilepsy) had a pattern characteristic of Angelman syndrome on the electroencephalogram. Differential diagnosis was based on the gene / chromosomal syndromes characterized by similar clinical signs.Conclusion. The combination of such most frequent, early clinical symptoms as difficulties in feeding, strabismus, impaired muscle tone, delayed motor and psycho-speech development, affective behavior with frequent laughter, and sleep disorders may indicate Angelman syndrome in a child.

No abstract

Angelman syndrome is a rare neurogenetic disease caused by the loss of the function of the maternal allele of the UBE3A gene on chromosome 15 (site 15q11.2–q13) and is characterized by severe mental retardation, lack of speech, epilepsy, microcephaly and a characteristic facial phenotype with a unique behavior in the form of frequent laughter. The combination of microcephaly, epilepsy, speechlessness and mental retardation poses a problem for differential diagnosis with many genetic diseases presenting with similar symptoms. Epileptic encephalopathy due to CDKL5 gene mutation and Rett syndrome have the greatest similarity. The hallmark of Angelman syndrome are laughter attacks and specific EEG changes. The authors have presented a table of the differential diagnosis of Angelman syndrome with some phenotypically similar genetic syndromes, indicating the most significant distinguishing features, which should facilitate for the pediatrician and neurologist the diagnostic path of establishing the correct diagnosis.