RESUMO
We report, to our knowledge, the first case of a congenital, widespread, aggressive high-grade sarcoma, presented as multiple skin nodules and respiratory distress in a neonate that had a t(9;22)(q22;q11-12) cytogenetic abnormality suggestive of a more indolent extraskeletal myxoid chondrosarcoma (EMC). EMC is generally thought of as a slow-growing tumor that presents between the fourth and sixth decades of life. Our patient was a 45,XY, t(13;14) newborn who presented at birth with subcutaneous nodules involving the face, scalp, back and extremities, as well as multiple intrathoracic, intraabdominal and intracranial masses. Diagnosis was made using electron microscopy and immunohistochemical and cytogenetic studies. Despite attempts to control rapid growth of lesions using high-dose steroids and cis-retinoic acid, patient's clinical status continued to deteriorate and life support was withdrawn at the 26 day of life.
Assuntos
Condrossarcoma/congênito , Condrossarcoma/diagnóstico , Insuficiência Respiratória/etiologia , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/diagnóstico , Adulto , Condrossarcoma/complicações , Condrossarcoma/patologia , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Masculino , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/patologiaRESUMO
Arterial thromboembolism (TE) in the absence of current or recent history of a central catheter is a rare condition in newborn period. We report a case of severe lower extremities arterial TE of unclear etiology in a full-term neonate. By adding hyperbaric oxygenation to thrombolytic and antithrombotic therapy, we achieved improved perfusion of the upper leg tissues, preserving the knee and enabling below-the-knee amputation.