RESUMO
A 37-year-old female presented to our hospital with a history of bleeding episodes (excessive bleeding after tooth extraction, gum bleeding, easy bruising, and excessive menstruation) and severe thrombocytopenia (2,000/µL). She had no family history of bleeding tendency or thrombocytopenia. No peripheral lymphadenopathy or splenomegaly was noted. The patient's white blood cell count was normal; hemoglobin was 9.7 g/dL. A peripheral blood smear showed markedly decreased platelets, with occasional giant or large platelets. Bone marrow examination found increased megakaryocytes. The patient also complained of hearing difficulty; a hearing test indicated sensory-neural hearing impairment. Her thrombocytopenia was refractory to treatment with glucocorticosteroids, intravenous gamma-globulin, and danazol. In the 13 years following her initial presentation, the patient required anti-hypertensive treatment, a hearing-aid for progressive hearing loss, and started maintenance kidney dialysis. Her clinical history of refractory thrombocytopenia, progressive hearing impairment, and renal failure suggested myosin heavy chain 9 gene-related congenital syndrome (Epstein syndrome), which was confirmed by the presence of a heterozygous deletion mutation, c.221_223del, (p.Lys74del) in peripheral leukocyte deoxyribonucleic acid.
Assuntos
Adulto , Feminino , Humanos , Exame de Medula Óssea , Danazol , Diálise , DNA , gama-Globulinas , Gengiva , Audição , Perda Auditiva , Perda Auditiva Neurossensorial , Testes Auditivos , Hemorragia , Rim , Contagem de Leucócitos , Leucócitos , Doenças Linfáticas , Megacariócitos , Cadeias Pesadas de Miosina , Insuficiência Renal , Insuficiência Renal Crônica , Deleção de Sequência , Esplenomegalia , Trombocitopenia , Extração DentáriaRESUMO
Sorafenib, an oral multi-kinase inhibitor, is used for the treatment of patients with radioactive iodine (RAI) refractory differentiated thyroid carcinoma (DTC) with favorable outcomes. Some unusual but fatal adverse effects are known for this drug and tracheoesophageal fistula (TEF) is one of them, which has never been reported in thyroid cancer patients. We present a successfully treated patient who had developed TEF associated with rapid tumor regression during sorafenib treatment for locally advanced papillary thyroid carcinoma (PTC). Sorafenib was discontinued and feeding jejunostomy tube was placed for nutritional support. 3 months later, the TEF had successfully healed and there was no visible fistula track or interval change of the viable tumor during 15 months of follow-up. Identifying patients at high risk for this potential complication and paying special attention when prescribing anti-angiogenics to these patients are crucial to prevent associated morbidity and mortality.
Assuntos
Humanos , Fístula , Seguimentos , Iodo , Jejunostomia , Mortalidade , Apoio Nutricional , Glândula Tireoide , Neoplasias da Glândula Tireoide , Fístula TraqueoesofágicaRESUMO
As extra-mammary Paget's disease is rare and usually diagnosed at early stage when it is highly curable with surgical resection, it is much rarer to see patients with recurrent metastatic disease. Thrombotic thrombocytopenic purpura in patients with metastatic solid cancer is also a rare disease and may result from bone marrow metastasis or bone marrow necrosis. For the latter, the majority of cases are not eligible for systemic chemotherapy for rapid disease progression and poor performance status. Herein, authors report a patient with thrombotic thrombocytopenic purpura associated with bone marrow necrosis complicating extra-mammary Paget's disease who was successfully treated with docetaxel and carboplatin combination chemotherapy.