Encefalitis autoinmune y síndrome paraneoplásico por teratoma maduro ovárico / Autoimmune encephalitis and paraneoplasic syndrome due to ovarian mature teratoma

Antecedentes: La encefalitis por anticuerpos contra el receptor de N-metil-D- aspartato (NMDAr), fue descrita por primera vez en 2005, y en 2007 Dalmau et al identificaron los anticuerpos contra el receptor NMDA. Se estima que anualmente hay 1.5 casos por cada millón de habitantes con mayor frecuencia en mujeres jóvenes entre 15 a 25 años, puede presentarse como un síndrome paraneoplásico asociado a teratoma ovárico en un 37%. Descripción del caso clínico: Femenina de 17 años con antecedente de teratoma de ovario izquierdo de recién diagnóstico, una semana posterior a la resección quirúrgica presenta: alucinaciones auditivas, ideación de persecución, insomnio, anhedonia, agitación psicomotriz, alteraciones del habla, discinesias orofaciales y alteraciones en la marcha, de un mes de evolución. El electroencefalograma (EEG) reportó hallazgos de disfunción cortico-subcortical severa según reporte por clínica privada sin acceso al estudio. La Resonancia Magnética (IRM) cerebral y citoquímica de líquido cefalorraquídeo (LCR) sin anormalidades. Ante sospecha clínica se inició tratamiento inmunosupresor con corticosteroides intravenosos y manejo sintomático antipsicótico, para agitación y ansiedad; inicialmente con midazolam en infusión y luego con olanzapina, risperidona y clonazepam; obteniendo una evolución clínica satisfactoria. Finalmente, se confirmó el diagnóstico al obtener un resultado positivo para IgG contra la subunidad N1 de glutamato (GluN1) del NMDAr. Conclusión: La encefalitis anti NMDAr es una condición rara y subdiagnosticada, puede confundirse con una enfermedad psiquiátrica primaria. Ante un primer episodio psicótico se debe hacer un interrogatorio y evaluación extensa, con la finalidad de descartar causas secundarias, como los trastornos autoinmunes con repercusiones neurológicas...(AU)

Encefalitis por anticuerpos contra el receptor N-metil-D-aspartato secundaria a teratoma ovárico en una paciente pediátrica / Encephalitis due to antibodies against the N-methyl-D-aspartate receptor secondary to ovarian teratoma in a pediatric patient

La encefalitis por anticuerpos contra el receptor N-metilD-aspartato es un proceso inmunomediado en el que autoanticuerpos se dirigen contra la subunidad GluN1 del receptor de glutamato del sistema nervioso central. Se caracteriza por la aparición aguda o subaguda de síntomas psiquiátricos, como confusión, pérdida de la memoria a corto plazo, cambios de conducta, catatonía, seguidos por manifestaciones neurológicas, tales como convulsiones, alteraciones del movimiento, disfunciones autonómicas, coma y depresión respiratoria. Es grave y potencialmente mortal. Su asociación con teratoma de ovario como síndrome paraneoplásico fue descrita en mujeres jóvenes. En la población pediátrica, es mucho menos frecuente y se reporta en comunicaciones de 1 o 2 pacientes y en series de pocos casos. Se presenta una paciente de 13 años con encefalitis paraneoplásica por anticuerpos contra el receptor N-metil-Daspartato, secundaria a un teratoma ovárico maduro.

The encephalitis due to antibodies against the N-methylD-aspartate receptor is a process immune-mediated in which antibodies are directed against the GluN1 subunit of the glutamate receptor in the central nervous system. It is characterized by an acute or subacute onset of psychiatric symptoms such as confusion, short-term memory loss, behavioral changes, catatonia followed by neurological manifestations such as seizures, movement disturbances, autonomic dysfunctions, coma, and respiratory depression. It is serious and life threatening. Its association with ovarian teratoma as a paraneoplastic syndrome was described in youngwomen. In the pediatric population it is much less frequent and is reported in publications of one or two patients and in series of few cases. We present a 13-year-old patient with encephalitis paraneoplastic due to antibodies against the N-methyl-Daspartate receptor, secondary to a mature ovarian teratoma.

Fetus in Fetu as a suprarenal mass in a neonate - a rare and perplexing entity

Fetus in fetu (FIF) is a rare entity in which a malformed vertebrate fetus is incorporated within its twin. This entity should be differentiated from a teratoma, which has more malignant potential. We describe a neonate with a heterogeneous calcified suprarenal mass. The aspiration cytology revealed a heterogeneous cell population with spindle cells and small round blue cells. Operative and histopathologic examination showed features consistent with a fetus in fetu. This case report describes a rare entity and discusses its clinical presentation, cytological features on fine-needle aspiration, and the difficulties posed in its differentiation from a teratoma.

Teratoma ovariano como causa de dor abdominal em criança na idade pré-escolar / Ovarian teratoma as a cause of abdominal pain in preschool children

Introdução: Os tumores ovarianos, raros na infância, apresentam maior incidência entre 8 e 9 anos, tendo pico aos 19 anos. A sintomatologia principal manifesta-se por dor abdominal, massa palpável, febre, constipação e mais raramente polaciúria e disúria. Os teratomas ovarianos maduros embora sejam neoplasias majoritariamente benignas, se malconduzidas, podem evoluir para emergências cirúrgicas. Objetivo: Analisar o teratoma ovariano maduro como possível etiologia de dor abdominal crônica em pacientes pediátricos. Relato de Caso: Criança, 2 anos e 9 meses, levada ao atendimento médico com relato de dor abdominal crônica, 3 meses de evolução, com períodos de agudização, de forte intensidade, associada à disúria e polaciúria conduzida como principal suspeita infecção do trato urinário (ITU). A partir da clínica compatível, associado a leucocitúrias, mesmo não havendo crescimento bacteriano nas culturas, devido à recorrência do quadro, seguiu-se a propedêutica adequada de investigação de ITU de repetição, através do rastreio de má formações das vias urinárias. O ultrassom abdominal total com dinâmica do trato urinário constatou presença de volumosa formação expansiva originada provavelmente em ovário esquerdo. Estendida a pesquisa diagnóstica foi realizada tomografia computadorizada do abdome e pelve com achados sugestivos de teratoma ovariano esquerdo, exercendo comportamento expansivo local com desvio e compressão de estruturas anatômicas circunvizinhas. Com a hipótese diagnóstica evidenciada foi encaminhada à cirurgia pediátrica e oncologia para tratamento adequado, com realização de ooforectomia e seguimento clínico. Conclusão: Importância da propedêutica adequada para casos de dor abdominal crônica em pacientes pediátricos devido à extensão de possíveis diagnósticos diferenciais.

Introduction: Ovarian tumors, rare in childhood, have a higher incidence between 8 and 9 years, peaking at 19 years. The main symptomatology is manifested by abdominal pain, palpable mass, fever, constipation, and more rarely polaciuria and dysuria. Mature ovarian teratomas although they are mostly benign neoplasms, if poorly conducted, they can progress to surgical emergencies. Objective: To analyze mature ovarian teratoma as a possible etiology of chronic abdominal pain in pediatric patients. Case Report: Child, 2 years and 9 months, taken to medical care with report of chronic abdominal pain, three months of evolution, with periods of sharpness, of strong intensity, associated with dysuria and polaciuria and primary suspected urinary tract infection (UTI). From the compatible clinic, associated with leukocytes, though there is no bacterial growth in the cultures, due to the recurrence of the condition, appropriate propaedeutic investigation of repeat UTI was followed by screening for urinary pathway malformations. Total abdominal ultrasound with urinary tract dynamics was requested, which that found the presence of a large expansive formation probably originating in the left ovary. Extended diagnostic research, the computed tomography of the abdomen and pelvis was performed with findings suggestive of left ovarian teratoma exerting local expansive behavior with deviation and compression of surrounding anatomical structures. With the diagnostic hypothesis evidenced, she was referred to pediatric surgery and oncology for appropriate treatment with oophorectomy and clinical follow-up. Conclusion: Importance of adequate propaedeutics for cases of chronic abdominal pain in pediatric patients due to the extent of possible differential diagnoses.

Reporte de un caso fatal de encefalitis autoinmunitaria asociada a teratoma ovárico / Report of a fatal case of autoimmune encephalitis associated with an ovarian teratoma

INTRODUCCIÓN: El teratoma del ovario es el tumor de células germinales más frecuente. Entre sus complicaciones se describen algunos síndromes paraneoplásicos, como la encefalitis por anticuerpos contra el receptor N-metil-D-aspartato (NMDA). CASO CLÍNICO: Mujer de 22 años sin antecedentes de importancia que consulta por cuadro clínico de 4 días de evolución caracterizado por síntomas psiquiátricos y un episodio convulsivo. Se considera un cuadro de meningoencefalitis y se indica manejo antibiótico de amplio espectro y antiviral. Ante el deterioro se sospecha una encefalitis autoinmunitaria, se identifica un tumor anexial en los estudios imagenológicos compatible con teratoma y se confirma el diagnóstico con el hallazgo de anticuerpos NMDA en el líquido cefalorraquídeo. A pesar de su resección y manejo sistémico, fallece a los 5 meses. DISCUSIÓN: La encefalitis autoinmunitaria asociada a un teratoma es inusual, pero es una complicación que debe sospecharse como diagnóstico de exclusión. La mayoría tienen un pronóstico favorable, aunque hasta una cuarta parte de los casos puede asociarse a daño irreversible en la corteza del hipocampo e incluso la muerte, principalmente cuando el diagnóstico y el tratamiento son tardíos. CONCLUSIONES: Este caso es un reto clínico que representa un vacío en la evidencia actual, puesto que no existe un estándar de manejo de los teratomas. Se propone que, una vez diagnosticado un teratoma, se realice una cistectomía ovárica. Son necesarios más estudios para validar esta recomendación.

INTRODUCTION: The ovarian teratoma is the most common cell germ tumor. Some paraneoplastic syndromes have been described, including the anti-N-methyl-D-aspartate (NMDA) receptor encephalitis as part of its complications. CASE REPORT: A 22 years old female patient with no important medical history, consults due to an acute psychotic disorder and a convulsion. A meningoencephalitis was considered and broad-spectrum antibiotics and antivirals were started. Faced with deterioration, an autoimmune encephalitis is considered as well. Imaging studies revealed an ovarian teratoma and diagnosis was confirmed with antibodies against NMDA receptor in cerebrospinal fluid. Despite its resection and systemic management, the patient dies after 5 months. DISCUSSION: The autoimmune encephalitis associated with an ovarian teratoma is rare, its a complication that must be suspected as an exclusion diagnosis and most have a favorable prognosis, however up to a quarter of cases can be associated with irreversible damage to the hippocampal cortex and even death, mainly when late diagnosis and treatment are made. CONCLUSIONS: This case is a clinical challenge, no evidence is available since there is no standard for teratoma management. It is proposed that once a teratoma is diagnosed, an ovarian cystectomy is performed. Further studies are necessary to validate this recommendation.

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.

Ovarian teratoma associated Anti-N-methyl-D-aspartate receptor encephalitis: a difficult diagnosis with a favorable prognosis

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently described auto-immune and paraneoplastic encephalitis with prominent neuropsychiatric manifestations affecting young adults with ovarian teratoma. The availability of a novel assay to measure these antibodies might suggest an etiology for this potentially life-threatening disease, which if early recognized can be treated promptly with surgery with chances of a good clinical outcome. Reported prognostic indicators for a good outcome depend on the presence of a tumor, prompt treatment and no admission to an intensive care unit. However, due to the rarity and unawareness of this disease, the diagnosis may be delayed as primary psychiatric disorders, and infective encephalitis is taken more into consideration and ruled out first. Here we report a case of anti-NMDAR encephalitis in a 22-year-old female prompted by an ovarian teratoma with a gradual and complete resolution of symptoms after surgical excision of the teratoma and immunomodulating therapies.

Thymic teratoma presenting as non-immune hydrops fetalis

Teratomas are one of the most frequent tumors in the pediatric population. They occur anywhere along the midline of the body, following the course of the embryonic germ cell ridge. In the mediastinal location, they exert space occupying effects, leading to a myriad of complications, including non-immune hydrops fetalis. We describe a fatal case of an immature thymic teratoma in a neonate presenting with hydrops fetalis. This case emphasizes the importance of early diagnosis and surgical intervention in such cases.

Encefalitis autoinmunitaria asociada a anticuerpos contra el receptor N-metil-D-aspartato: presentación de dos casos / Autoimmune encephalitis associated to antibodies against the N-methyl-D-aspartate receptor: Report of two cases

Resumen La encefalitis asociada a anticuerpos contra receptores N-metil-D-aspartato es un síndrome neurológico que se presenta más comúnmente en mujeres jóvenes y frecuentemente se asocia al teratoma de ovario. Se caracteriza por un cuadro clínico agudo con síntomas generales inespecíficos que evoluciona hacia deterioro neurológico, psicosis y convulsiones; en su etapa más avanzada, se asocia con movimientos anormales y disautonomía. Se reportan dos casos en mujeres de 23 y 12 años. Dada su baja incidencia, se explica el proceso clínico que llevó a su diagnóstico y las opciones de tratamiento empleadas.

Abstract Anti-N-methyl-D-aspartate receptor encephalitis is a neurological syndrome that is more common in young women and is often associated with ovarian teratoma. It is characterized by acute general unspecific symptoms that evolve to neurological deterioration, psychosis and seizures. In its more advanced stage it is associated with abnormal movements and dysautonomia. We report two cases in women of 23 and 12 years of age. Given its low incidence, we present the clinical exercise that led to their diagnoses and the treatment options employed.

Tumor de Krukenberg del ovario asociado a teratoma maduro / Krukenberg tumor of the ovary associated with mature teratoma

Se reporta un caso excepcional de tumor de Krukenberg ovárico bilateral asociado a teratoma maduro encontrado en una mujer de 54 años. La ecografía mostró al lado derecho tumor ovárico sólido de 55 mm y al lado izquierdo tumor quístico de 125 mm. Se realizó histerectomía total, salpingooforectomía bilateral, resección del epiplón mayor y muestras peritoneales. Al tercer día postcirugía, la paciente presentó signos de tromboembolismo pulmonar masivo y aunque recibió terapia anticoagulante falleció al quinto día postoperatorio. El estudio histológico mostró infiltración masiva de carcinoma de células en anillo positivas para citoqueratina en ambos ovarios. El ovario derecho mostró la forma sólida clásica del tumor de Krukenberg mientras que el ovario izquierdo correspondió a un quiste dermoide con infiltración tumoral de carcinoma de células en anillo en la pared.

An exceptional case of bilateral Krukenberg tumor of the ovary associated with mature teratoma presented in a 54 years old patient is reported. The ultrasound showed a 55 mm solid right ovarian tumor and a 125 mm left cystic ovarian tumor. Hysterectomy and bilateral salpingoophorectomy was performed including omental resection and peritoneal biopsies. Massive pulmonary embolism was detected in the third day after the surgery. Even anticoagulant therapy was established the patient died in the fifth postoperative day. The histological study revealed massive infiltration of signet ring cell carcinoma with positive expression for cytokeratin in both ovaries. The right ovary showed the classical solid form of the tumor. The left ovary was a dermoid cyst with signet ring cell carcinoma infiltrating the cystic wall.

Los teratomas, verdaderos monstruos en la infancia: caso clínico de un teratoma maduro ováricos / Teratomas, real monsters in childhood: Case report of a mature ovarian teratoma

Los Teratoma son tumores que contienen más de dos capas germinales del embrión, de localización variable, frecuentes en la infancia, benignos en su mayoría, con una base genética en estudio, cuyo tratamiento y pronostico va a depender de múltiples factores dentro de los que destaca su com - portamiento histológico...(AU)

Intrapulmonary teratoma presenting with tricoptysis: A case report and review of the literature.

Intrathoracic teratoma usually occurs in the mediastinum but rarely, these may originate from the lung. We report a case of an intrapulmonary teratoma in a 34-year-old male.

Large choroid plexus teratoma: A rare cause of congenital hydrocephalus.

Teratomas form the most common type of congenital brain tumors, frequently presenting as stillbirth. The largest neonatal series of intracranial teratomas reported a 12% survival rate. Although the first teratoma of the lateral ventricle was reported in 1961 by Maier, neonatal intracranial teratoma of the lateral ventricle is an extremely rare entity. We report here a large intracranial poorly differentiated teratoma arising from choroid plexus of lateral ventricle. This typically presented at birth with a large congenital hydrocephalus.

Teratoma sólido maduro de ovario con protrusión intrarrectal: informe de un caso / Solid mature ovarian teratoma with intrarectal protusion: case report

Introducción: El teratoma primario de recto es una entidad extremadamente rara; se ha sugerido que deriva de células germinales aberrantes del tracto digestivo embrionario. Una complicación inusitada es que el tumor ovárico erosione la pared rectal y permita la formación de una fístula para así alojarse en el interior del recto. Caso clínico: Mujer de 54 años de edad con sangrado transanal. Por endoscopia se observó tumor cubierto de pelos en su superficie, localizado a 15 cm del margen anal. Una tomografía computarizada identificó la localización exacta y la presencia de tejido óseo en su interior. Mediante laparotomía se apreció el ovario izquierdo fusionado a la cara anterior del recto, de donde se originaba un tumor de 5 × 4 cm que protruía hacia su luz. Se realizó ooforectomía izquierda y mediante sección peritumoral de la pared intestinal se extrajo el tumor del interior del recto y se cerró el defecto con suturas simples. El estudio histológico demostró conglomeración de tejidos correspondiente a los tres estratos germinales. Conclusiones: Aunque es raro, el diagnóstico de teratoma de ovario intrarrectal debe ser considerado en pacientes con tumores del recto. El diagnóstico es relativamente fácil ante la presencia de pelos en la superficie tumoral, que se evalúa mediante endoscopia.

BACKGROUND: Primary rectal teratoma is a very rare entity. It has been suggested that these tumors grow from aberrant germinal cells of the embryonic digestive tract. Ovarian tumor can also erode the rectal wall, allowing the formation of a fistula localized inside the rectum, becoming an extremely rare complication. CLINICAL CASE: We report the first case of a 54-year old woman with transanal bleeding whose endoscopic investigation showed a hairy-covered tumor in its surface localized 15 cm from the anal margin. Scanning detected its exact location and the presence of bony tissue within. By means of a laparotomy, we identified the left ovary fusioned to the anterior face of the rectum where a 5 x 4 cm tumor was originally protruding towards its lumen. Left oophorectomy was performed and through a peri-tumoral section of the intestinal wall we extracted the tumor from the inner rectum and closed the defect with simple sutures. Histological report demonstrated a conglomerate of tissues that corresponded to the three germinal layers. CONCLUSIONS: Although rare, diagnosis of intrarectal ovarian teratoma must be considered as a differential diagnosis in patients with rectal tumors. Diagnosis is relatively easy in the presence of a tumor with a hairy surface that is evaluated endoscopically. For treatment we suggest a simple procedure with adequate results.

Anaesthetic management of a child presenting with intrapericardial teratoma compressing the airway and the heart.

Intrapericardial tumours can cause cardiac compromise either from pericardial effusion producing cardiac tamponade or from the mass obstructing the outflow from the heart or both. Respiratory embarrassment may also be present if the mass compresses the trachea or the main stem bronchus. A 1-month-old child presented in the emergency needing prompt measures to relieve compressive symptoms. Successful anaesthetic and surgical management led to uneventful recovery. Histopathology of the mass revealed a rarely occurring intrapericardial teratoma. After surgical removal, the child had clinical follow-up for more than a year. Intrapericardial teratoma is a rare entity that presents a diagnostic and therapeutic challenge. The authors describe the case of a 1-month-old male child with this condition who was successfully managed by resection of the mass.