Omonova Umida Tulkinovna

Title: Method for determining neuroimaging aspects of various forms of microcephaly

Abstract

Relevance: Magnetic resonance imaging is indispensable for the diagnosis of microcephaly, as it provides detailed brain imaging, detects developmental abnormalities, and helps identify the probable factors that caused this condition.

Aim of the study: To determine the clinical-neurological and neuroimaging characteristics of various forms of microcephaly in children.

Materials and methods: To achieve the stated objective, 207 children aged from 3 months to 17 years were examined. Of the total number of children studied, 89 (42.9%) were boys and 118 (57.9%) were girls. All patients were divided into three therapeutic groups according to the form of microcephaly. Group I included 95 patients (45.9%) diagnosed with primary microcephaly, of whom 51 (53.7%) were girls and 44 (46.3%) were boys. Group II consisted of 87 patients (42.0%) with secondary microcephaly, including 55 (63.2%) girls and 32 (36.8%) boys. Finally, Group III included 25 patients (12.1%) diagnosed with syndromic microcephaly, of whom 12 (48%) were girls and 13 (52%) were boys.

In accordance with the objectives of the study, a comprehensive set of clinical-neurological, neuropsychological, and neuroimaging research methods was used.

Results: According to the results of our study, the assessment of anamnestic data demonstrated that pregnancy and/or childbirth in almost all mothers of the observed groups proceeded with various complications. Regarding head circumference, its values in all three groups were below normal (on average 36 cm), with a statistically significant predominance of lower values in the group of patients with syndromic microcephaly, which is characterized by the most progressive destruction of brain tissue. Furthermore, brain MRI was performed in 60 patients with microcephaly (random sample) to identify brain developmental malformations characteristic of this category of patients. The following most significant changes were revealed: hypoplasia of the cerebral hemispheres was observed in 20 children (33.3%); hypoplasia of the corpus callosum was detected in 16 patients (26.6%); periventricular leukomalacia (PVL) was noted in 33 children (55.0%); PVL combined with hypoplasia of the cerebral hemispheres was identified in 25 patients (41.6%); and PVL combined with hypoplasia of the corpus callosum, cerebral hemispheres, and brainstem was observed in 38 patients (63.3%).

Conclusion: The use of magnetic resonance imaging in children with microcephaly makes it possible to identify abnormalities in brain anatomy, whereas neurological examination is aimed at determining functional disorders caused by these abnormalities.