Edwards Syndrome with Severe Anemia and Neurological Manifestations: A Case Report of a 13-Year-Old Female in Saudi Arabia

Edwards syndrome, also known as trisomy 18, is a rare chromosomal disorder characterized by multiple congenital anomalies and significant developmental delay. We present the case of a 13-year-old female diagnosed with Edwards syndrome, highlighting the intricate clinical course and management challenges encountered in her care. The patient exhibited dysmorphic facial features, severe anemia, and neurological manifestations, including seizures and abnormal movements. Diagnostic investigations revealed severe iron deficiency anemia necessitating packed red blood cell transfusion, alongside antiepileptic therapy for seizure management. A multidisciplinary approach involving specialists from various disciplines facilitated tailored interventions addressing the patient's medical, nutritional, and developmental needs. Reporting and documenting cases of Edwards syndrome are vital for advancing understanding of the condition and optimizing clinical care practices. This case underscores the importance of a comprehensive, multidisciplinary approach to care for individuals with rare genetic disorders like Edwards syndrome, aiming to optimize outcomes and enhance overall quality of life.