Congenital and Acquired Microcephaly: Etiopathogenesis, Clinical Course, Diagnosis and Recommendations Based on Clinical Case Observations
Abstract
Aim. The aim of this study was to describe the etiopathogenesis, clinical course, and diagnostic features of congenital and acquired microcephaly through the presentation of clinical case observations.
Materials and methods. Two pediatric patients with microcephaly were analyzed. Clinical evaluation included history, anthropometry, neurological assessment, and instrumental investigations such as MRI, EEG, biochemical tests, and genetic analysis by next-generation sequencing (NGS).
Results. The first case revealed a homozygous pathogenic mutation in the ASPM gene, confirming primary microcephaly type 5. The second case demonstrated a PAH gene mutation associated with phenylketonuria, resulting in secondary microcephaly. Both patients showed delayed psychomotor and speech development, symptomatic epilepsy, and neurological impairment.
Conclusion. Microcephaly represents a heterogeneous group of disorders with both congenital and acquired origins. Genetic testing plays a crucial role in early diagnosis and family counseling. Clinical case observations highlight the importance of molecular genetic studies in Uzbekistan to improve diagnostic accuracy, provide genetic counseling, and develop rehabilitation strategies for affected children.
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