Good / 中南大学学报(医学版)

A patient with thymoma associated immunodeficiency syndrome (Good's syndrome) and bronchiectasis was retrospectively analyzed. Good's syndrome is a rare condition of immunodeficiency that is characterized by thymoma and hypogammaglobulinemia. It is important to bear in mind that Good's syndrome should be included in the differential diagnosis When patients repeatedly visited for bronchiectasis or infection, we should alert to their immune state and history of thymoma. Early screening of immunological status and aggressive correction of immune deficiency are beneficial to improving the prognosis to patients with Good's syndrome.

Teratoma tímico productor de beta-HCG: una causa infrecuente de pubertad precoz periférica / Beta-hCG-producing thymic teratoma: an uncommon cause of peripheral precocious puberty

INTRODUCCIÓN: Entre las causas de pubertad precoz periférica en el varón están los tumores secretores de betagonadotrofina coriónica humana (Β-HCG), como hepatoblastomas, disgerminomas, corio-carcinomas y teratomas inmaduros. En pediatría los teratomas mediastínicos son raros, representan el 7-10% de los teratomas extragonadales. OBJETIVO: Describir caso de un paciente que cursa con pubertad precoz periférica debida a teratoma tímico secretor de Β-HCG. CASO CLÍNICO: Escolar masculino de 7 años 10 meses consultó por cuadro de 3 meses de cambios de la voz, ginecomastia, aparición de vello pubiano y aumento de volumen genital. En exámenes destacaba edad ósea de 9 años, testosterona total 9,33ng/ml (< 0,4ng/ml), dehidroepiandrosterona sulfato (DHEAS), 17-hidroxi-progesterona (17-OH-P) y prueba de hormona adrenocorticotrofina (ACTH) normales, hormona luteinizante (LH) y hormona folículo estimulante (FSH) basales bajas, Β-HCG 39,5mU/ml (< 2,5 mUI/ml), alfa fetoproteína (α-FP) 11,2ng/ml (0,6-2,0 ng/ml). Estudio de imágenes para determinar origen de secreción de Β-HCG incluye: ecografía testicular y tomografla axial computarizada (TAC) torácica, abdominal y pelviana normales; resonancia cerebral y selar sin hallazgos significativos. Tomografía por emisión de positrones/tomografía computada (PET SCAN) evidenció imagen de tumor en mediastino antero-superior. Se resecó el tumor, cuya biopsia evidenció teratoma quístico inmaduro en timo. Evolución postoperatoria fue satisfactoria, con normalización de niveles hormonales. CONCLUSIÓN: La presentación de un teratoma en paciente pediátrico es infrecuente, aún más, si es inmaduro, su localización es tímica y es secretor de Β-HCG. Es relevante considerarlo dentro de diagnósticos diferenciales frente a pubertad precoz, de modo que pueda efectuarse un manejo oportuno.

INTRODUCTION: Among the causes of peripheral precocious puberty in men are the beta- human cho rionic gonadotropin (Β-HCG)-secreting tumors, such as hepatoblastomas, dysgerminomas, chorio carcinomas, and immature teratomas. In pediatrics, the mediastinal teratomas are rare, representing the 7-10% of extragonadal teratomas. OBJECTIVE: To describe the case of a patient with peripheral precocious puberty due to a Β-HCG -secreting thymic teratoma. CLINICAL CASE: A seven-years-old schoolboy presents a three-months history of voice changes, gynecomastia, pubic hair appearance, and increased genital volume. In the exams, bone age of nine years, total testosterone 9.33ng/ml (< 0.4ng/ml), dehydroepiandrosterone sulfate (DHEAS), 17-hydroxyprogesterone (17-OHP), and normal adrenocorticotropic hormone (ACTH) test stand out; luteinizing hormone (LH) and follicle stimulating hormone (FSH) with low basal levels, P-HCG 39.5mU/ml (< 2.5 mUI/ml), alpha feto protein (Α-FP) 11,2ng/ml (0.6-2.0 ng/ml). Imaging study to determine the origin of P-HCG secretion shows normal testicular ultrasound and thoracic, abdominal, and pelvic computerized axial tomo graphy (CAT); brain and sellar resonance without significant findings. The positron emission tomography/computed scan (PET SCAN) shows a tumor image in the anterosuperior mediastinum. The tumor is resected, and the biopsy shows an immature cystic teratoma in the thymus. Post-operatory evolution was satisfactory, with normalization of hormonal levels. CONCLUSION: The appearance of a teratoma in a pediatric patient is rare, even more if it is immature, with thymic location and Β-HCG- secretor. It is important to consider it within the differential diagnosis facing precocious puberty, as a better way to handle appropriately.

Carcinoma neuroendocrino de timo con enfermedad de pompe del adulto / Thymic neuroendocrine carcinoma with Pompe's disease of the adult

La enfermedad de Pompe (glucogenosis tipo II) es una enfermedad de depósito lisosomal, autosómica recesiva causada por una deficiencia de ácido alfa-glucosidasa. Los tumores neuroendocrinos tímicos son neoplasias primarias con diferenciación neuroendocrina que generalmente se presentan como una masa en el mediastino anterior. Ambas enfermedades se consideran raras en sí mismas. En nuestro conocimiento, la enfermedad de Pompe y un tumor neuroendocrino del timo en el mismo paciente no ha sido antes comunicada. No pudimos encontrar la plausibilidad biológica entre ambas enfermedades. Se necesitan más estudios para confirmar el hallazgo y para aumentar aún más nuestra comprensión de esta asociación. Los datos clínicos de los estudios epidemiológicos, los informes de casos, las series de casos y los pequeños ensayos clínicos abiertos o controlados pueden definir tanto la plausibilidad clínica como la causalidad entre las dos enfermedades.

Pompe disease (glycogenosis type II) is an inherited autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase. Thymic neuroendocrine tumors, are primary thymic neoplasms with neuroendocrine differentiation that generally present as a mass within the anterior mediastinum. Both diseases are considered rare. To our knowledge the co-existence of Pompe disease and thymic neuroendocrine tumor in the same patient has not been previously reported. We could not find biological plausibility between both diseases. Further studies are needed to confirm the finding and to further increase our understanding of this association. Clinical data from epidemiological studies, case reports, case series and small formal open or controlled clinical trials may define both clinical plausibility and causality between the two conditions.

Secreción ectópica de ACTH en un paciente con antecedentes de enfermedad de Cushing / ACTH's ectopic secretion in a patient with precedents of Cushing's disease

Hombre de 54 años con antecedentes de enfermedad de Cushing 32 años antes de la consulta. Ingresó por edemas asociados a astenia y adinamia. En el laboratorio se constató hipopotasemia y alcalosis metabólica. Se realizó diagnóstico humoral de síndrome de Cushing secundario a secreción ectópica de hormona adrenocorticotropa (ACTH). En la tomografía de tórax se halló un tumor de 3 × 3 cm en el mediastino anterior. La anatomía patológica de la pieza quirúrgica fue compatible con un carcinoide tímico. Este paciente sufrió en dos oportunidades un síndrome de Cushing, la primera por enfermedad (adenoma hipofisiario) y la segunda vez por secreción ectópica de ACTH (SEA) una asociación no descripta, en nuestro conocimiento, en la literatura médica.

A 54-year-old man, with a history of Cushing’s disease diagnosed 32 years earlier, presented with edema, asthenia and general malaise. Abnormal laboratory studies depicted hypokalemia and metabolic alkalosis. A CT scan of the chest revealed a 3 × 3 cm tumor in the anterior mediastinum. The pathology was consistent with a thymic carcinoid. These findings led to a diagnosis of biochemical Cushing’s syndrome secondary to ectopic secretion of ACTH. Thus, this patient suffered twice of Cushing’s syndrome. The first instance was the consequence of an ACTH - secreting pituitary adenoma and the second of an ectopic secretion of ACTH. To the best of our knowledge this is the first such case reported in the medical literature.

Myasthenia gravis and thymus: long-term follow-up screening of thymectomized and non-thymectomized patients / Miastenia gravis e timo: investigacao no seguimento de longo prazo em pacientes timectomizados e nao timectomizados

Thymoma screening is recommended at the onset of myasthenia gravis (MG) or when patients with MG present with clinical deterioration or a progressive increase of anti-acetylcholine receptor antibody. However, it is unknown if it is necessary to repeat the screening of thymoma at fixed intervals, even in the absence of MG deterioration, when the initial screening is negative. We analyzed the recurrence rate and incidence of new thymoma in a series of patients with well-controlled MG. The sample consisted of 53 patients, aged 17 to 72 years, and the follow-up varied between 75 and 472 months. The chest computerized tomography detected thymus abnormalities in eight patients at the initial screening and no abnormalities in all patients at a second screening after five years. The findings of this study support the classical opinion that screening for thymoma should be recommended only if there is clinical deterioration due to the disease.

A investigação de timoma é recomendada em pacientes com miastenia gravis (MG) no início da doença, em caso de haver piora clínica ou aumento dos níveis do anticorpo antirreceptor de acetilcolina. Contudo, não foi estabelecido se é necessário repetir a investigação de timoma em intervalos fixos, na ausência de piora clínica, quando a investigação inicial foi negativa. A taxa de recorrência e a incidência de novo timoma foram analisadas em uma série de pacientes com MG bem controlada. A amostra consiste de 53 pacientes, idade entre 17 e 72 anos, com tempo de acompanhamento variando entre 75 e 472 meses. A primeira tomografia computadorizada de tórax detectou anormalidades no timo em oito pacientes durante a investigação inicial da doença e nenhuma anormalidade no segundo exame, após cinco anos de doença, em todos os pacientes. Os achados desse estudo corroboram a clássica opinião de que a investigação de timoma deveria ser recomendada somente se houver piora clínica da doença.

Thymoma associated with myasthenia gravis and Sjögren syndrome / Timoma asociado con miastenia grave y síndrome de Sjögren

Thymoma is the most common neoplasm of the anterior mediastinum but thymoma with Sjögren syndrome (SS) is rare. Sjögren syndrome is a systemic autoimmune inflammatory disorder. It is characterized by lymphocytemediated destruction of exocrine glands, which leads to absent glandular secretion. Here, we present the case of a 63yearold man with thymoma and concurrent myasthenia gravis and SS, who achieved remission after thymectomy.

El timoma es la neoplasia más frecuente del mediastino anterior, pero un timoma acompañado del síndrome de Sjögren (SS) constituye una ocurrencia rara. El síndrome de Sjögren es un trastorno inflamatorio autoinmune sistémico. Se caracteriza por la destrucción - mediada por linfocitos - de las glándulas exocrinas, lo cual conduce a la ausencia de secreción glandular. Aquí presentamos el caso de un hombre de 63 años de edad con timoma, y miastenia gravis y SS concurrentes, que logró la remisión después de una timectomía.

Síndrome de Good y aplasia pura de la serie roja, reporte de un caso y revisión de la literatura: Report of one case / Association of Good syndrome with pure red cell aplasia

Background: The association between Good's syndrome (hypogammaglobulinemia and thymoma) with pure red aplasia is very uncommon. We report a 70-year-old male, who had a thymoma excised nine years before. Afterwards, he suffered frequent respiratory infections, which were attributed to a humoral immunodeficiency. Nine years later, he developed a pure red cell aplasia. He received prednisone and cyclosporine, resulting in a progressive rise of hemoglobin level, after one month of treatment. The patient died shortly thereafter due to infection, complicating a domestic accident.

Tratamento cirúrgico da síndrome da veia cava superior causado por timoma invasivo / Surgical treatment of superior vena cava syndrome caused by invasive thymoma

Paciente do sexo masculino, branco, 57 anos, portador de síndrome da veia cava superior havia 3 meses, devido a timoma invasivo em mediastino médio e anterior, levando a comprometimento da veia cava superior intrínseca e extrinsecamente. Após avaliação por tomografia computadorizada e angiorressonância magnética de tórax, o paciente foi submetido à ressecção radical do timoma - derivação venosa da veia subclávia esquerda para átrio direito, com tubo de PTFE (politetrafluoroetileno). Relevante caso de timoma invasivo ocasionando a oclusão da veia cava superior. A evolução clínica, após 7 meses, foi considerada satisfatória.

We report on a case of a 57 years-old white male, patient, who presented superior vena cava syndrome (SVC) for 3 months, derived from an invasive thymoma in the medium and anterior mediastinum, compromising intrinsic and extrinsic to the SVC. After evaluation by computed tomography and magnetic angioresonance of the thorax, the patient underwent radical resection of the thymoma - bypass from left subclavian vein to right atrium, using polytetrafluoroethylene tube. Relevant case of invasive thymoma causing the occlusion of SVC. The clinic evolution of the patient after 7 months was considered satisfactory.

Acquired Amegakaryocytic Thrombocytopenia after Thymectomy in a Case of Pure Red Cell Aplasia Associated with Thymoma / 대한진단검사의학회지

The association of thymoma with pure red cell aplasia has been well documented, but amegakaryocytic thrombocytopenia is not a recognized paraneoplastic syndrome complicating thymoma. We report a case of thymoma-complicated pure red cell aplasia and amegakaryocytic thrombocytopenia in a 73-yr-old woman. Pure red cell aplasia was diagnosed seven months after the detection of thymoma. One year after the diagnosis of pure red cell aplasia and seven months after thymectomy, bone marrow aspiration and biopsy showed an absence of megakaryocytes, marked erythroid hypoplasia with normal myeloid series. A diagnosis of amegakaryocytic thrombocytopenia and pure red cell aplasia was made. Oral steroid maintenance therapy resulted in recovery of platelet count. She has still transfusion-dependant anemia but platelet and neutrophil counts had been maintained in normal range for more than five months, until the last follow-up. We think that autoreactive T cells may induce a clinical autoimmune response even after eradication of thymoma, and aplastic anemia as a late complication following thymectomy was described in previous cases. This patient also has to be under a close observation because of the possibility to evolve into aplastic anemia.

Thymoma Associated with Myasthenia Gravis in Infancy.

Thymomas are associated with various autoimmune disorders in adults, most commonly with myasthenia gravis (MG). In MG antibodies developed against acetylcholine (ACh) receptors, resulting weakness of muscle after repeated use and recovery following a period of rest. However, MG due to thymoma is extremely rare in pediatric age group.1We report an infant with MG due to invasive thymoma.

Timoma, síndrome de Good y carcinoide intestinal: caso clínico y revision de la literatura / Case report: thymoma Good's syndrome and intestinal carcinoid

The association of thymoma, with myasthenia gravis, pure red cell aplasia and hypogammaglobulinemia (Good's syndrome), has been described. We report a case of a 51 years old woman who after a surgieal resection of a thymoma had several Symptoms and study showed hypogammaglobulinemia. During the study of a persitent diarrhea distal ileum carcinoid tumor was diagnosed. The forgotten association of thymoma and malignancies is of a great clinical significance. Evidence linking thymoma with other neoplasms is provided by the clinical literature.

La asociación de timoma con miastenia gravis, aplasia eritrocítica pura e hipogamaglobulinemia (Síndrome de Good) ha sido descrita. Presentamos el caso de una mujer de 51 años que después de la operación de un timoma presentó varios síntomas confirmándose una hipogammaglobulinemia. En el estudio de una diarrea persistente se encontró un tumor carcinoide del íleon distal. La asociación olvidada entre timoma y cáncer es de gran importancia clínica.

Case of generalised myasthenia gravis with membranous nephropathy.

We report a 40-year old woman with bilateral partial ptosis, complete external ophthalmoplegia, and weakness and fatiguability of upper limbs. She was on treatment for hypertension for 5 months at the time of admission. She was found to have generalised myasthenia gravis and membranous nephropathy with end-stage renal disease. Her symptoms and signs improved within 2 months on treatment with neostigmine and prednisolone. It is postulated that either thymic hyperplasia or the subclinical stage of a thymoma may be the underlying aetiological factor in this patient.

A case of granulomatous lung disease in a patient with Good's syndrome

Good's syndrome is extremely rare. This adult-onset condition is characterized by a thymoma with immunodeficiency, low B- and T-cell counts, and hypo-gammaglobulinemia. The initial clinical presentation is either a mass-lesion thymoma or a recurrent infection. Patients with Good's syndrome are very susceptible to infections; common respiratory and opportunistic infections can be life-threatening. There are no reports of granulomatous lung disease in patients with Good's syndrome, although it has been observed in patients with common variable immunodeficiency, of which Good's syndrome is a subset. We describe a 53-year-old male thymoma patient who presented with respiratory symptoms caused by granulomatous lung disease and an opportunistic infection. He died of uncontrolled fungal infection despite repeated intravenous immunoglobulin and supportive care. Clinicians should look for evidence of immunologic dysfunction in thymoma patients presenting with severe recurrent infections, especially opportunistic infections.

Pure red cell aplasia with malignant thymoma: a rarity.

Pure red cell aplasia sometimes accompanies thymoma. Herein we report a PRCA patient with malignant thymoma. Only two Indian cases of PRCA with malignant thymoma have been reported so far and six cases in the world literature, to the best of our knowledge. This paper describes a malignant thymoma in a 40 year old male who later on developed pure red cell aplasia 7 months after thymectomy.

Intestinal pseudo-obstruction as initial presentation of thymoma.

A 45-year-old-man presented with severe vomiting, constipation, abdominal distention and bilateral ocular abductor palsy. Evaluation revealed diffuse autonomic dysfunction characterized by intestinal pseudo-obstruction, xerophthalmia, xerostomia, postural hypotension, erectile dysfunction and loss of sinus arrhythmia. Paraneoplastic work-up revealed thymoma. Most symptoms resolved after surgical removal of the thymoma. Six weeks later he developed worsening of external ophthalmoparesis with ptosis, responding to acetylcholinesterase inhibitor, confirming myasthenia gravis.