Diagnostic difficulty in Peutz–Jeghers syndrome

A case of diagnostic difficulty facing the patient with colonic polyposis secondary to Peutz–Jeghers syndrome, but without family history and pathognomonic clinical features of the disease, is illustrated. The exams, including biopsy, led to diagnostic uncertainty and the definitive diagnosis was characterized in therapeutic of exception.

ResumoIlustra-se um caso de dificuldade diagnóstica frente à paciente com polipose colônica secundária a Síndrome de Peutz-Jeghers, sem história familiar e sem características clínicas patognomônicas da doença. Os exames, incluindo biópsia, geraram dúvida diagnóstica, sendo o diagnóstico definitivo caracterizado em terapêutica de exceção.