A Complex Case of Partial Digeorge Syndrome with Multiple System Involvement: Seizure Disorder, Hypothyroidism and Recurrent Infection

Abstract

DiGeorge Syndrome (DGS), or 22q11.2 deletion syndrome (22q11DS), is a genetic disorder characterized by a microdeletion on chromosome 22 at band q11.2, presenting with a range of clinical features including immunodeficiency, hypoparathyroidism, and congenital heart disease. Partial DiGeorge Syndrome involves a subset of these features, complicating diagnosis and management. This case study describes a 45-year-old female with partial DiGeorge Syndrome who presented with a seizure disorder, hypothyroidism, and recurrent infections. Following a fall, she sustained multiple facial bone fractures and developed respiratory symptoms. Her management included intensive care for seizure activity, correction of electrolyte imbalances, and treatment for respiratory complications and infections. The patient required multidisciplinary care involving neurologists, endocrinologists, and pulmonologists. The patient's complex presentation highlighted the need for comprehensive, coordinated medical care to address the multifaceted impacts of partial DiGeorge Syndrome. Key management strategies included continuous monitoring, endocrine support, and targeted antibiotic therapy. This case underscores the importance of a multidisciplinary approach in managing partial DiGeorge Syndrome, emphasizing the need for integrated care to improve patient outcomes and quality of life. KEYWORDS: DiGeorge Syndrome, Seizure Disorder, Hypothyroidism, Recurrent Infection