Brazilian Journals Publicações de Periódicos e Editora Ltda.
Abstract
Congenital hypothyroidism (CH) is a leading preventable cause of intellectual developmental disorders, with a prevalence of 1 in 2,000 to 1 in 4,000 newborns. Neonatal screening programs play a crucial role in early detection and prevention of long-term neurodevelopmental consequences. This article presents the case of a 6-year-old female patient with a history of delayed growth and neuropsychomotor development due to CH, exacerbated by poor adherence to levothyroxine treatment. The patient exhibited typical clinical features of CH, including short stature, muscular hypotonia, macroglossia, and syndromic facies. Laboratory results revealed significantly elevated TSH levels and low free T4, confirming CH. The differential diagnosis was also considered Beckwith-Wiedemann syndrome due to overlapping craniofacial characteristics and the group of mucopolysaccharidoses and mucolipidosis due to the infiltrated facial appearance. This case highlights the importance of early diagnosis, adherence to treatment, and rigorous follow-up to prevent severe neurocognitive and developmental deficits. The article further discusses the significance of the National Neonatal Screening Program in Brazil in detecting and managing CH, emphasizing the need for enhanced patient and family support in low socioeconomic contexts
