Crisis adrenérgica como forma de debut de un neuroblastoma / Adrenergic crisis as a debut form of a neuroblastoma

INTRODUCCIÓN: La forma clínica de presentación más común del neuroblastoma es el de una masa abdominal, pero puede presentarse con sintomatología menos habitual, como es la crisis adrenérgica por liberación de catecolaminas. OBJETIVO: Describir una forma de presentación inusual de neuroblastoma y el amplio diagnóstico diferencial que existe en un lactante con síntomas adrenérgicos. CASO CLÍNICO: Lactante femenina de 7 semanas de vida, consultó por historia de tres semanas de sudoración e irritabilidad a lo que se asoció fiebre de 24 h de evolución y dificultad respiratoria. Al ingreso presentaba mal esta do general, irritabilidad, sudoración, enrojecimiento facial, taquipnea y palidez cutánea, taquicardia sinusal extrema e hipertensión arterial (HTA), interpretadas como sintomatología adrenérgica. Se completó el estudio con una ecografía abdominal y resonancia magnética que mostraron una gran masa retroperitoneal compatible con neuroblastoma. Las catecolaminas en sangre y en orina mostraron altos niveles de dopamina, adrenalina y noradrenalina, probablemente de origen tumoral. Se inició tratamiento antihipertensivo con fármacos alfa bloqueantes con buen control de la tensión arterial. Se resecó quirúrgicamente el tumor sin incidencias y con una adecuada recuperación posterior. La paciente presentó evolución favorable a tres años de seguimiento. CONCLUSIONES: en un lactante con sintomatología adrenérgica como irritabilidad, enrojecimiento, sudoración asociada a HTA, se debe descartar patología cardiaca, metabólica (hipoglucemia), intoxicaciones y/o patología suprarrenal. Dentro de esta última, el neuroblastoma es la primera posibilidad diagnóstica, por ser uno de los principales tumores en la infancia y aunque esta presentación no es habitual puede producir estos síntomas.

INTRODUCTION: The most common clinical presentation of neuroblastoma is an abdominal mass, but it can present with uncommon symptoms, such as adrenergic storm due to catecholamine release. OBJECTIVE: To describe an unusual presentation of neuroblastoma and the wide differential diagnosis that exists in an infant with adrenergic symptoms. CLINICAL CASE: A 7-week old female infant was evaluated due to a 3-week history of sweating and irritability associated with a 24-hour fever and respiratory distress. At admission, she presented poor general condition, irritability, sweating, facial redness, tachypnea and skin paleness, extreme sinus tachycardia, and high blood pressure (HBP), interpreted as adrenergic symptoms. The study was completed with abdominal ultrasound and magnetic reso nance imaging that showed a large retroperitoneal mass compatible with neuroblastoma. Plasma and urinary catecholamines tests showed high levels of dopamine, adrenaline, and noradrenaline, probably of tumor origin. We started antihypertensive treatment with alpha-blocker drugs, showing a good blood pressure control. The tumor was surgically resected without incidents and adequate subsequent recovery. The patient presented a favorable evolution after three years of follow-up. CONCLUSIONS: In an infant with adrenergic symptoms such as irritability, redness, sweating associated with HBP, it should be ruled out pathology heart or metabolic (hypoglycemia) pathology, intoxications, and/or adrenal pathology. Within this last one, neuroblastoma is the first diagnostic possibility, since it is one of the main tumors in childhood and, although this presentation is not usual, it can produce these symptoms.

Liposarcoma retroperitoneal complicado: a propósito de un caso / Complicated retroperitoneal liposarcoma: a case report

Resumen Las neoplasias retroperitoneales suponen un reto para el profesional sanitario, tanto en el diagnóstico como en el tratamiento. Caso clínico: Varón de 56 años diabético tipo 2. Acude por edema en extremidad inferior derecha y parestesias. Se realiza ecografía doppler con resultados de trombosis venosa profunda y conglomerado adenopático. En TAC abdominal se observa gran masa retroperitoneal que engloba paquete vasculonervioso iliaco derecho. Se realiza vaciamiento ganglionar con resultado inicial de hamartoma. Se practica cirugía de resección de la masa y ligadura de la vena iliaca externa trombosada preservando la arteria iliaca. Anatomía patológica intraoperatoria sugestiva de sarcoma y definitiva de liposarcoma. Reingresa por shock hipovolémico y rotura de la arteria iliaca derecha. Se realiza ligadura y bypass femoro-femoral izquierdo-derecho. Al alta es derivado a oncología, falleciendo a los 6 meses. Discusión: El sarcoma es el tumor primario más frecuente a nivel retroperitoneal (15%). De difícil diagnóstico y tardío tratamiento, suelen ser asintomáticos hasta que debutan como una masa y clínica de compresión local o afectación de estructuras vasculonerviosas. El TAC es la prueba diagnóstica de elección. El tratamiento del tumor localizado es la cirugía; la radioterapia y quimioterapia se reservan para tumores irresecables o de alto grado.

Abstract Retroperitoneal neoplasias may be a diagnostic and therapeutic challenge for the clinician. Case report: A 56 year old male with prior history of type 2 diabetes consults with right inferior limb edema and paresthesias. He was diagnosed of deep vein thrombosis and lymph node conglomerate by ultrasound. A CT scan was performed, observing great retro peritoneal mass enclosing vascular and nervous structures. An initial histological diagnosis of hamartoma was made. Surgery was scheduled to remove the tumour, ligation of thrombosed external iliac vein and the external iliac artery was preserved. Intraoperative histological findings suggested sarcoma, definite studies showed presence of high grade liposarcoma. Two weeks after the intervention, the patient presents in hypovolemic shock due to rupture of the right external iliac artery. Emergent ligation of the artery and femorofemoral bypass was performed, with adequate postoperatory recovery. The patient was discharged and continued adjuvant oncology treatment and was exitus six months later. Discussion: Sarcomas are the most frequent primary retroperitoneal tumours. They are difficult to diagnose and often have untimely treatment. Sarcomas tend to be asymptomatic, or present with local compression symptoms, affecting vascular and nervous structures. CT scan is the gold standard for diagnostic imaging. Treatment requires a multidisciplinary approach, surgical resection as the main therapy; radio and chemotherapy represents a solution for irresectable or high grade malignancies.

Liposarcoma retroperitoneal como etiología de dolor abdominal: presentación de un caso y revisión de la literatura / Retroperitoneal liposarcoma as etiology of abdominal pain: case report and literature review

Soft tissue sarcomas are very uncommon types of tumors, with their embryological origin in the mesoderm and in nerve structures of the neuroectodermic layer. They represent only 1.5% of cases in the National Registry of Malignant Tumors in Mexico. They can be encountered anywhere connective soft tissue is found. Because of their specialized localization, retroperitoneal soft tissue sarcomas have a propensity to remain asymptomatic for long periods of time and reach a large size before being diagnosed. The only accepted treatment is wide surgical excision with clear margins, without a clear benefit for adjuvant treatment. The very uncommon nature of these tumors and their varied histopathology, site and behavior classify them as a difficult entity in terms of treatment. We present here the case of a 66-year-old female with a left-side retroperitoneal tumor, complaining only of vague abdominal pain as the presenting symptom. A CT-guided needle biopsy reported a sarcoma and the patient was subjected to laparatomy with complete resection of the tumor (30 x 13 x 10 cm). Histopathological report demonstrated a low-grade retroperitoneal sarcoma and free macroscopic and microscopic borders, without obvious invasion except for left kidney and ureter. The patient refused adjuvant treatment, and she is disease-free 7 years after treatment. Retroperitoneal sarcomas can cause pain and reach very large sizes. The best treatment available is wide surgical resection with clear margins. The most important prognostic factors are free margins, type of resection, age of patient and tumor histology.

Highly elevated serum CA 125 in a lady with ascites and retroperitoneal mass--a diagnostic dilemma.

BACKGROUND: Cancer antigen 125 (CA 125), a widely used tumor marker for monitoring epithelial ovarian cancer, is also found to be raised in non-gynecological tumors and non malignant disease involving peritoneum. We report a case of non-Hodgkin's lymphoma who presented with peritoneal and pleural effusions with a very high level of serum CA 125. CASE: Fifty four years female presented with gross ascitis, bilateral moderate pleural effusions, right retroperitoneal mass and a very high serum CA 125 level (4462.60 u/ml). She was initially evaluated to rule out ovarian malignancy but her biopsy from retroperitoneal mass came out to be diffuse large B cell non-Hodgkin's lymphoma. CONCLUSION: In a female patient with ascitis with high serum CA 125 level, a differential diagnosis of lymphoma should not be overlooked unless cytology comes positive for epithelial carcinoma cells.

Unusual presentation of a retroperitoneal lymphangioma.

A 3 year old child presented with hemorrhagic ascites of short duration. Based on clinical manifestation and investigations a differential diagnosis of peritoneal tuberculosis, pancreatic ascites or malignant ascites was considered. Laparotomy revealed a huge retroperitoneal cystic lymphangioma confirmed by histopathology. The unusual presentation of retroperitoneal tumours as pseudoascites is discussed.

Late onset hypoventilation syndrome: is there a spectrum of idiopathic hypoventilation syndromes?

We report a case of late onset central hypoventilation syndrome (LO-CHS) with hypothalamic dysfunction (HD) and ganglioneuroma presenting at the age of ten years. LOCHS-HD is now a well-established syndrome; the key is to investigate each child's history and presentation to expeditiously offer the most accurate diagnosis and optimal management.

Well-differentiated inflammatory liposarcoma presenting as pyrexia of unknown origin.

Liposarcomas have diverse histological appearance and clinical manifestations. Well-differentiated inflammatory liposarcoma is an uncommon sub-type, which often causes diagnostic difficulty. We report here a young female patient who presented with prolonged pyrexia and sub-diaphragmatic mass and was detected to have this uncommon soft tissue sarcoma on laparotomy.

Retroperitoneal teratoma presenting as acute abdomen in an elderly person.

A 56-year-old man presented with acute abdomen. Clinically, he was diagnosed as having perigastric abscess. On exploration, a retroperitoneal cystic teratoma was encountered. Postoperatively, he recovered uneventfully and has no residual disease two years later.

Extraadrenal retroperitoneal paraganglioma causing malignant hypertension and permanent visual loss in an eleven-year-old-girl

We report a secretory paraganglioma in an eleven-year-old Trinidadian girl of East Indian descent who presented with malignant hypertension, proteinuria and modest elevation of urinary vanillylmandelic acid levels. The extraadrenal mass was surgically removed without complications. The patient has been normotensive without evidence of recurrence of disease but with persistent visual sequel two years later. This case reinforces the observation that extraadrenal retroperitoneal paragangliomas can be functionally very active and early computed tomography or other imaging procedure is necessary for rapid noninvasive evaluation, timely surgery and prevention of permanent morbidity.

A case of Klinefelter syndrome with retroperitoneal teratoma

Klinefelter syndrome (KS) is often associated with various neoplasms, especially germ cell tumors. Mediastinum is the most favored site of extragonadal germ cell tumors with KS, which is somewhat different from those without KS. The retroperitoneal germ cell tumor in KS is very rare. A five-month-old boy with an abdominal mass was found to have a retroperitoneal tumor. After surgical removal, he was diagnosed to have mature cystic teratoma. Cytogenetic study of his peripheral lymphocytes revealed that his karyotype was consistent with KS. This case suggests that patients with KS might be at risk of having germ cell tumors in sites other than mediastinum. It also suggests that all cases with these tumors should be screened for the presence of karyotypic abnormalities, and it might help to assess the exact correlation between germ cell tumors and KS, and to treat them accordingly.

Retroperitoneal extraosseous osteosarcoma. A case report and review of literature.

Extraosseous osteogenic sarcoma is a rare and highly malignant neoplasm. A 57 year old male patient presented with a mass in the abdomen involving the left lumber region. The ultrasound and computerized tomography (CT) scan showed a large mass arising from upper pole of the left kidney. Left radical nephrectomy was performed in April 1995. Histopathology report revealed a high grade extraosseous osteogenic sarcoma. Patient was disease free for 23 months. Although the prognosis is grave, aggressive surgical treatment with adjuvant therapy helps in prolonging the survival.

Retro-peritoneal cystic lymphangioma in association with fetal hydantoin syndrome.

Antiepileptic drugs are known to be teratogenic. Use of phenytoin during pregnancy can cause various congenital malformations leading to 'fetal hydantoin syndrome'. One such case reported is unique in the sense that it occurred with retroperitoneal cystic lymphangioma, itself a rare condition. Such an association is not described elsewhere.

Fibro-histiocitoma maligno retroperitoneal complicado por hemorragia espontânea intracavitária / Malignant fibrous histiocytoma of the retroperitoneum complicated by spontaneous hemorrhage into the cavity

Apresentamos um caso de fibro-histiocitoma maligno retroperitoneal complicado por hemorragia espontânea intracavitária, sendo esta uma forma de apresentaçäo muito atípica. Os fibro-hitiocitomas malignos säo tipos comuns de sarcoma, porém, a sua localizaçäo no retroperitônio, com invasäo da cavidade peritoneal a partir deste sítio primário, é muito rara. Como todos os tumores do retroperitônio, o diagnóstico precoce é difícil, poi suas apresentaçöes clínica, laboratorial e radiológica säo inespecíficas e näo permitem o diagnóstico definitivo. A paciente foi submetida a uma laparotomia de urgência, que foi diagnóstica e terapêutica. Os autores reportam este caso enfatizando o diagnóstico, tratamento e evoluçäo

Angiosarcoma retroperitoneal: descripción de un caso / Retroperitoneal angiosarcoma: description of a case

Los angiosarcomas son tumores vasculares malignos extremadamente raros, que se desarrollan principalmente en tejidos cutáneos, mamas e hígado. La ubicación retroperitoneal es excepcional. Se describe un caso anatomoclínico de angiosarcoma retroperitoneal en un hombre de 40 años, que cosnulta por lumbago de 2 años de evolución y caquexia extrema. Al momento del ingreso hospitalario destacan la hepatomegalia importante en la que el estudio ecográfico revela múltiples metástasis y un tumor retroperitoneal. Una biopsia incisional hepática diagnostica angiosarcoma pobremente diferenciado. El paciente fallece a los 2 meses del diagnóstico por compromiso respiratorio y cuadro de hemorragia digestiva alta. El estudio anatomopatológico demostró la existencia de un angiosarcoma retroperitoneal con metastásis hepáticas y pleurales