Trisomy 13, home health-care and multidisciplinary approach: Case report / Trissomia 13, atendimento domiciliar e abordagem multidisciplinar: relato de caso

ABSTRACT Objective: To recognize and address Patau's syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. Case description: We present a female patient who defied the odds with a prolonged survival, possible due to Home Care. She was delivered via cesarean section at 31 weeks + 4 days due to restricted uterine growth. The mother, aged 36, had received proper prenatal care and was in good health. The diagnosis of Patau's syndrome was confirmed through karyotyping after birth. Despite the severe clinical nature of the case, the patient, now with two years old, receives specialized home-based care, supported by a tracheostomy and gastrostomy. A dedicated 24-hour nursing technician ensures continuous monitoring, and the patient benefits from regular medical check-ups, physiotherapy five times a week, weekly speech therapy sessions, monthly consultations with a nutritionist, and ongoing psychological support for her family members. Comments: This multidisciplinary approach has resulted in a slight motor response, highlighting the positive impact of comprehensive care on her overall well-being. The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome.

RESUMO Objetivo: Reconhecer e abordar a síndrome de Patau, apesar de sua raridade e da baixa expectativa de vida associada, por meio da apresentação de um estudo de caso de uma paciente de dois anos que recebe cuidados em casa por intermédio de serviços de home care. Descrição do caso: Apresentamos uma paciente do sexo feminino que desafiou as probabilidades, com sobrevivência prolongada devida, possivelmente, ao home care. Ela nasceu por cesariana, com 31 semanas + 4 dias, em razão da restrição do crescimento uterino. A mãe, de 36 anos, recebeu cuidados pré-natais adequados e gozava de boa saúde. O diagnóstico da síndrome de Patau foi confirmado por meio de cariótipo após o nascimento. Apesar da gravidade clínica do caso, a paciente, hoje com dois anos, recebe atendimento domiciliar especializado, apoiado por traqueostomia e gastrostomia. Um técnico de enfermagem dedicado 24 horas garante acompanhamento contínuo, e a paciente beneficia-se de check-ups médicos regulares, fisioterapia cinco vezes por semana, sessões semanais de fonoaudiologia, consultas mensais com nutricionista e apoio psicológico contínuo aos familiares. Comentários: Esta abordagem multidisciplinar resultou em melhora motora discreta, destacando o impacto positivo do cuidado integral no seu bem-estar geral. A existência de uma rede robusta de apoio às famílias que enfrentam desafios semelhantes é crucial, e um cuidado multidisciplinar pode prevenir eficazmente as complicações associadas a esta impactante síndrome.

Trisomy 13, home health-care and multidisciplinary approach: Case report.

OBJECTIVE: To recognize and address Patau's syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services. CASE DESCRIPTION: We present a female patient who defied the odds with a prolonged survival, possible due to Home Care. She was delivered via cesarean section at 31 weeks + 4 days due to restricted uterine growth. The mother, aged 36, had received proper prenatal care and was in good health. The diagnosis of Patau's syndrome was confirmed through karyotyping after birth. Despite the severe clinical nature of the case, the patient, now with two years old, receives specialized home-based care, supported by a tracheostomy and gastrostomy. A dedicated 24-hour nursing technician ensures continuous monitoring, and the patient benefits from regular medical check-ups, physiotherapy five times a week, weekly speech therapy sessions, monthly consultations with a nutritionist, and ongoing psychological support for her family members. COMMENTS: This multidisciplinary approach has resulted in a slight motor response, highlighting the positive impact of comprehensive care on her overall well-being. The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome.