Síndrome de Lowe: Um estudo de caso

Abstract

This study highlights the complexity of Lowe's syndrome, also known as oculocerebrorenal syndrome (OCR), first described by Lowe in 1952, is a rare genetic condition that primarily affects the eyes, brain, and kidneys. Genetic diagnosis, although possible, is often limited by the costs and slowness of the public health system. Thus, diagnosis is often based on clinical criteria and laboratory tests. The prevalence is estimated at 1 in 500,000 in the general population. The case report presents LG, a child with Lowe's Syndrome with neuropsychomotor delay, congenital cataract and glaucoma. The transdisciplinary team, composed of diverse healthcare professionals, has taken a holistic approach to addressing the complex clinical and therapeutic challenges of the syndrome. The therapeutic interventions focused on improving the quality of life, highlighting the importance of speech therapy and the need for early intervention integrated with a transdisciplinary approach, in addition to the active inclusion of the family in the therapeutic process. The study emphasizes the crucial role of third sector institutions in supporting populations in vulnerable situations and highlights the need for articulation between institutions and the public health system.