ETIOLOGY, DIAGNOSIS, AND MANAGEMENT OF CHILDHOOD MICROCEPHALY: A SINGLE-CENTER RETROSPECTIVE STUDY

Background: Microcephaly is a condition that causes reduction in brain volume as well cognitive and motor impairments. It can be seen alone or conjunction with variety of genetic disorders environmental factors. still poorly defined condition, identifying the etiological critical for providing counseling, preventing potential consequences. Objective: The aim this study was to assess etiology, diagnosis, management childhood microcephaly. Methods: We conducted retrospective analysis on 50 children microcephaly (25 males, 25 females) who presented University Health Sciences, Ankara Keçiören Training Research Hospital between 2017-2021.The demographic features patients, neuroimaging, clinical laboratory findings were examined. Results: etiology documented 76% all patients. Genetic identified 16 % patients; including Aicardi Goutieres Syndrome,Williams Syndrome , Wolfram Syndrome, Rett Asparagine Synthetase Deficiency. Syndactyly, scoliosis, Poland syndrome, dysmorphic face, alopecia, auricular ear deformities, hearing loss, strabismus, nystagmus, hydronephrosis, single umbilical artery, cardiac septal defect detected systemic malformations associated In sixty percent neuroimaging performed; results abnormal 24% mean follow-up period patients 1.88± 0.6 years. Cognitive impairment 38% cases, epilepsy 20%. Of those 28% required special education. One patient operated by neurosurgeon due craniosynostosis. Conclusion: