Beyond the Diagnosis: A Journey of an 8-Year-Old Girl with Patau Syndrome: Case Report.

Background/

Objectives

Patau syndrome (trisomy 13) is a rare genetic disorder with high mortality, and poor prognosis. Patients surviving beyond infancy usually present with severe psychomotor delays, failure to thrive, intellectual disabilities and seizures. Female sex and mosaic trisomy 13 are considered positive prognostic factors.

Methods

Here we report an 8-year-old female patient with Patau syndrome, diagnosed prenatally, born prematurely at 35 + 4 weeks of gestation via vaginal delivery as a third child of 33 years old healthy and unrelated parents. The birth weight was 2087 g, Apgar scored 9 at 1 min and 10 at 5 min, also self-ventilating in room air since birth. The patient has several associated congenital abnormalities; however, medical adjustments such as multiple surgeries, PEG, hearing aids, glasses, anti-epileptic medications, and suction support the girl's daily life. The patient attends a primary school with specialist support that fosters her physical and sensory development and promotes progress in communication. Despite the numerous obstacles she faces, the girl's journey demonstrates remarkable growth and development with the support of an interdisciplinary care team. It highlights the critical role of personalized care and early intervention.

Conclusions

Due to the increasing survival rates of patients with Patau syndrome, complex and multidisciplinary care is required for both the patients and their families to achieve the best possible outcomes and ensure proper care, growth, and development of the child. All medical procedures must be thoroughly assessed for potential complications and viable improvement in quality of life.