RESUMO
Hypertension (HT) during pregnancy is not an infrequent obstetric problem, reaching a prevalence of 5-10%. This condition is highly associated with both maternal and fetal complications if not precisely diagnosed and managed. Even though primary HT, obesity, and preeclampsia are the main causes of HT in this period, other less familiar conditions must be considered during the investigation. Pheochromocytoma and paraganglioma (PPGL) are chromaffin cell tumors that produce, store, and secrete catecholamines, leading to HT and other adrenergic manifestations. Recognition of PPGL is crucial since misdiagnosis and improper management can lead to high morbidity and mortality, particularly during pregnancy. We report on two cases of PPGL diagnosed during pregnancy with different managements. Case 1 is a 25-year-old female at 31 weeks of first pregnancy, whose severe HT and life-threatening symptoms prompted an emergency delivery without previous confirmation or medical treatment of a suspected PPGL. After confirmation, a right adrenal PPGL was surgically resected 4 months later, following 15 days of medical therapy. Case 2 is a 22-year-old female at 18 weeks of pregnancy whose symptomatic PPGL was resected in the second trimester. A next-generation sequencing panel, including 23 PPGL-related genes, found no germline pathogenic variants (GPVs) in case 1 and an exon 1-4 germinative heterozygous deletion of the MAX gene in case 2. Despite the different medical approaches, both cases had satisfactory outcomes. Although uncommon, PPGL should be considered in the differential diagnosis of HT in pregnancy since missing the diagnosis and failing to introduce appropriate and timely treatment may lead to dramatic consequences for the mother and fetus. PPGL diagnosed during reproductive age is likely to result from GPV, prompting genetic investigation and counseling.
RESUMO
JUSTIFICATIVA E OBJETIVOS: A neurofibromatose tipo 1 é uma doença genética autossômica dominante. Apresenta-se distribuída em diversas regiões do mundo, não possui distinção étnica e acomete igualmente ambos os sexos. O objetivo deste estudo foi relatar um caso de neurofibromatose tipo 1, descrevendo o quadro clínico desta doença. RELATO DO CASO: Paciente do sexo masculino, 60 anos, com diagnóstico de neurofibromatose tipo 1 estabelecido havia 22 anos. Fazia acompanhamento para exérese de nódulos. O paciente referiu uma filha com a mesma doença. CONCLUSÃO: É importante que o clínico saiba reconhecer a doença, para que seja estabelecido o diagnóstico precoce tendo em vista o risco da transformação sarcomatosa. O manuseio do paciente com essa afecção deve ser feito por equipe multidisciplinar familiarizada com a história natural da doença,tendo como objetivo proporcionar a melhor qualidade de vida possível aos seus portadores.
BACKGROUND AND OBJECTIVES: The neurofibromatosis type 1 is an autosomal dominant disorder. It is distributedin many regions of the world, without distinction of ethnic affecting both sexes equally. The objective of this study is toreport a case of neurofibromatosis type 1, describing the clinical course of this disease. CASE REPORT: Male patient, 60-year-old, has been diagnosedwith neurofibromatosis type 1 for 22 years. Exeresis has been performed in order to remove the nodules. The patient reported one daughter with the same disease. CONCLUSION: It is important that clinicians learn to recognize the disease for early diagnosis in view of the risk of sarcomatous transformation. The management of patients with this disease should be done by a multidisciplinary team familiarize with the history of the disease, aiming to provide the best possible quality of life for sufferers.
