CLINICAL, NEUROLOGICAL AND PARACLINICAL FEATURES OF MICROCEPHALY OF VARIOUS ORIGINS

Abstract

Рurpose: to identify clinical, neurological and paraclinical features of microcephaly of various origins.
Material and methods: the research work is based on prospective and retrospective observation of 67 patients diagnosed with ICD-10 code Q02; Microcephaly". Patients applied to the department of medical genetic counseling of the Republican and Fergana Center "Screening of mother and child" for the period 2018-2022. The diagnosis was established on the basis of genealogical, clinical-neurological and paraclinical (brain MRI, EEG) research methods. According to etiological factors, the patients were divided into two groups: the main group (23 patients from 9 families) consisted of sick children with true hereditary familial microcephaly, the second group (44 patients) consisted of patients with embryopathic and syndromic microcephaly. The age of patients ranged from 3 months. up to 14 years old.
Results: the parents of the patients of the main group were in consanguineous marriage in the second and third generations; Patients with secondary microcephaly had a history of intrauterine infection, severe perinatal and intranatal asphyxia, and chromosomal aberrations. In patients of the comparison group, clinical symptoms, especially changes in the craniocerebral innervation, motor and cognitive spheres, were more pronounced than in the main group, significant differences were found in many indicators.
Conclusion: On the basis of the study, differences in the clinical course of true and secondary microcephaly were revealed. To verify the diagnosis of microcephaly of various origins, it is also necessary to undergo karyotyping and chromosomal matrix analysis to identify a spectrum of structural changes in chromosomes.