Patau Syndrome (Trisomy 13): A Rare Case Report of Long-Term Survival in Mosaicism

Abstract

Background: Patau syndrome, also known as trisomy 13, is a rare and severe chromosomal disorder caused by the presence of an extra copy of chromosome 13. It is associated with multiple congenital anomalies, profound developmental impairment, and a high rate of neonatal and infant mortality, with survival beyond the first year of life being uncommon.

Case Presentation: This case report describes a rare instance of long-term survival in a 17-year-old female diagnosed with mosaic Patau syndrome during infancy. The patient was born at term to non-consanguineous parents and presented with multiple congenital anomalies, including microcephaly, bilateral cleft lip and palate, microphthalmia, polydactyly, and congenital cardiac defects. The patient clinical course was complicated by feeding difficulties, recurrent respiratory infections, seizure disorder, and profound global developmental delay. Cytogenetic evaluation confirmed mosaic trisomy 13, with approximately 40% of cells exhibiting the additional chromosome.

Nursing Interventions: Nursing care focused on comprehensive, long-term supportive management, including nutritional support, seizure monitoring, prevention of respiratory complications, assistance with mobility and positioning, hygiene care, and continuous family education and counselling. Coordination with multidisciplinary teams ensured continuity of care and monitoring of associated complications.

Outcome: With sustained multidisciplinary medical care and consistent nursing support, the patient achieved prolonged survival into adolescence, despite severe physical and cognitive limitations.

Conclusion: This case highlights the phenotypic variability of mosaic Patau syndrome and underscores the critical role of individualised nursing care and multidisciplinary management in improving quality of life and supporting long-term survival in this rare genetic condition