RESUMO
Objective: To elaborate the clinical characteristics of congenital pulmonary lymphangiectasia in a neonate with hydrops fetalis. This could be an alert in considering it as a differential diagnosis for neonates with acute respiratory failure. Methods: We reviewed and analyzed single-center registry patients who underwent cadaveric autopsies in the Department of Pathology at Children's Hospital from January 1, 2010 to December 31, 2021. We aimed to explore the perinatal clinical manifestations associated with congenital pulmonary lymphangiectasis (CPL). Literature was reviewed to summarize the common features of CPL in pregnancy from individual cases, and to facilitate prenatal and intrapartum diagnosis prognosis, and assessment of medical emergencies. Results: Thirty-four patients were included, and the main causes of death were intrauterine infection (n = 6), severe pneumonia (n = 11), spontaneous pneumothorax (n = 3), hemorrhagic shock (n = 2), CPL (n = 1), and other non-respiratory failure manifestations (n = 12). The manifestations of respiratory distress in CPL were different from those of intrauterine infections and respiratory failure due to parenchymal lung lesions. These include prenatal presentation of fetal edema, postnatal presentation of uncorrectable respiratory failure with severe hypoproteinemia, pneumothorax and interstitial emphysema on imaging, and poor response to treatment with surfactant-like substances. Thus, when the pregnancy tests reveal fetal edema and postnatal presentation of acute, respiratory distress, the diagnosis of CPL should be considered first, and corresponding medical care should be implemented to improve the survival rate. Conclusions: CPL is a rare pulmonary defect, and its perinatal clinical manifestations can often be neglected. For children with prenatal fetal edema who die after birth due to progressive respiratory distress, a timely autopsy is of utmost importance to clarify the etiology, improve understanding of CPL, and diagnose early to allow for proper prenatal and postnatal care.
RESUMO
To the best of our knowledge, thus far there are no reported cases of melanotic neuroectodermal tumor of infancy (MNTI) with multiple complications. In this case report, we describe the clinical phenotype of MNTI in a 9-month-old female infant associated with tetralogy of Fallot (TOF), a congenital heart defect, and congenital hypothyroidism (CH). Our study showed that the growth of MNTI was delayed by a lower dosage of levothyroxine (L-T4) that was prescribed to treat CH because of the presence of TOF, a severe congenital heart disease. However, the standardized dosage of L-T4 improved thyroid function but stimulated the rapid growth of MNTI. Our report demonstrated that treatment with L-T4 affects the progression of MNTI. Our findings demonstrated the role of thyroid hormone in MNTI growth and progression. Furthermore, our study suggested that the treatment of co-morbidities in children with MNTI requires careful consideration of their effects on the growth and progression of MNTI.
