ABSTRACT:Objectives: To report a complex pediatric case presenting with multiple congenital anomalies, including global developmental delay, critical congenital heart disease, and potential neurological complications.
Case Presentation: A 9-year-old boy, Al Ameen, was admitted with a comprehensive medical history characterized by global developmental delay, failure to thrive, microcephaly, critical congenital heart disease (CCHD), micropenis, and growth hormone deficiency. Initial medical interventions included emergency surgical correction of ventricular septal defect and right ventricular outflow tract reconstruction. Neuroimaging revealed bilateral cerebellar hemisphere T2 hyperintensities and a linear T2 hyperintensity in the left high parietal lobe, suggesting potential chronic neurological complications.
Conclusions: This case underscores the complexity of multisystem developmental disorders, emphasizing the critical importance of comprehensive multidisciplinary evaluation and management. Further genetic and metabolic investigations are recommended to elucidate potential underlying etiological factors contributing to the patient's diverse clinical manifestations.