Lipomatose epidural idiopática familiar: relato de três casos e revisão da literatura / Familiar Idiopathic Spinal Epidural Lipomatosis: Report of Three Cases and Review of the Literature

Lipomatose epidural é a doença causada pelo aumento da quantidade de gordura no espaço epidural da coluna vertebral, levando à compressão medular ou radicular. A medula toracolombar é a mais comumente envolvida. É geralmente encontrada em homens. As principais causas são a obesidade, altos níveis de corticoides exógenos ou endógenos e hipotireoidismo. A forma idiopática é rara, correspondendo a 17% dos casos. Manifesta-se como mielopatia compressiva ou das raízes da cauda equina. A ressonância magnética é o exame de escolha; sugere-se o diagnóstico quando a espessura da camada de gordura epidural ultrapassa 6 mm. Nós adotamos neste caso a laminectomia com ressecção da gordura epidural, citada como uma das possíveis formas de tratamento. A maioria dos trabalhos demonstramelhora gradual, acentuada ou completa, do déficit neurológico nos primeiros 2 anos após a cirurgia.

Epidural lipomatosis is a disease caused by increased fat content in the epidural space of the spine, leading to root or spinal cord compression. The thoracolumbar spinal cord is themost commonly involved. It is usually found in men. Themain causes are obesity, high levels of exogenous or endogenous steroids and hypothyroidism. The idiopathic form is rare, accounting for 17% of cases. It manifests as compressive myelopathy or radiculopathy. MRI is the test of choice, suggests the diagnosis when the thickness of the epidural fat exceeds 6mm. We adopt in this case laminectomy with fat resection, cited as one of the possible forms of treatment. Most studies show a gradual improvement, marked or complete neurological recovery in the first two years after surgery.

Two Cases of Shwachman-Diamond Syndrome in Adolescents Confirmed by Genetic Analysis

No abstract available.

Lipoma intrabucal: um caso atípico / Intraoral lipoma: an atypical case

Lipoma é um tumor benigno de origem mesenquimal composto de tecido adiposo que raramente ocorre na cavidade oral. Apresentam-se com crescimento lento, assintomático, séssil ou pediculado, com prevalência a partir da 4ª década de vida. O prognóstico é favorável, com raras recidivas, e o tratamento de escolha é a excisão cirúrgica. Objetivo: o presente caso relata a presença de um lipoma de língua de tamanho atípico, medindo 3,0 cm x 2,2 cm em suas maiores extensões, que se manifestou entre 06 e 08 meses em uma paciente de 55 anos do gênero feminino. Relato de caso: relatava a paciente que o tumor atrapalhava sua fala e mastigação. A paciente foi submetida à biópsia incisional, sendo diagnosticado através do exame histopatológico o lipoma. O tumor então foi removido completamente sob anestesia local e há 10 meses vem sendo acompanhado sem nenhuma alteração. Conclusão: Devido a inúmeros tumores benignos de tecidos moles, a biópsia incisional é de grande valia para a realização de tratamento de lesões com volumes extensos e de diagnóstico clínico duvidoso...

Lipoma is a benign tumor of mesenchymal origin composed of fatty tissue and rarely occurs in the oral cavity. They are presented with slow growing, asymptomatic, sessile or pediculate, with prevalence from the 4th decade of life. The prognosis is favorable, with rare recurrence, and treatment of choice is surgical excision. Objetive: the present case reports the presence of a tongue lipoma with an atypical size, measuring 3.0 x 2.2 cm in its greatest extension, which was manifested between 06 and 08 months in a 55 years old female patient. Case report: she complained that the tumor interfered with her speech and chewing. The patient underwent incisional biopsy and was diagnosed by histopathologic examination lipoma. Then, tumor was completely removed under local anesthesia and 10 months ago has been followed without any change. Conclusion: due to many types of soft tissue benign tumors the incisional biopsy is essential to the treatment of extensive lesions with doubtful diagnosis...

Renal Replacement Lipomatosis Associated with Renal Calculus-Incidentally Detected at Autopsy: A Case Report of Two Cases.

Renal replacement lipomatosis (RRL) is a rare benign condition of the kidney in which there is proliferation of fat within renal sinus, hilum and peri-renalspace, thus replacing the renal parenchyma. The pathogenesis of RRL is unknown, although it is generally associated with aging, renal atrophy, long-standing chronic urinary infections. We report two cases of RRL, one of right kidney and other left, both of them associated with kidney stones. The patients were 45 and 65 years old respectively andwere admitted with fever and pain in abdomen. Autopsy performed showed right RRL associated with staghorn calculus and pulmonary tuberculosis in the first patient and left RRL with renal calculus in the pelvis and left pyelonephritis with perinephric abscess and right sided pyelonephritis in the second patient.

Lipofibromatosis accompanied by several congenital anomalies, report of a rare case.

Lipofibromatosis is a rare tumor of infancy, which has been reported about 10 years ago, and since then very few reports have been published. This tumor has been reported in association with congenital anomalies such as macrosyndactyly, but there is no report of multiple congenital anomalies with lipofibromatosis in the English literature as far as our knowledge goes. Herein, we report a case of this tumor associated with syndactyly, bilateral complete cleft lip and palate, trigonocephaly, and atrial septal defect.

Renal replacement lipomatosis with coexisting xanthogranulomatous pyelonephritis in a pregnant woman

Renal replacement lipomatosis of the kidney is a rare entity characterized by renal sinus and perirenal fat proliferation often caused by renal calculi. Most of the renal parenchyma is replaced by fat and the kidney is usually small, atrophic and nonfunctioning. We report magnetic resonance imaging and ultrasonography findings of a pregnant woman with Xanthogranulomatous pyelonephritis and renal replacement lipomatosis coexisting in the same kidney

Macrodistrofia lipomatosa: reporte de un caso / Macrodystrophia lipomatosa: a case report

Macrodystrophia lipomatosa (ML), is a Rare cause of non-hereditary localized gigantism, due to the progressi-ve proliferation of mesenchymal tissue, with a disproportionate increase of fibroadipose tissue in one or more digits of the affected extremity. This congenital abnormality occurs more frequently in the distribution of the median nerve (arm) and plantar nerve (leg). Etiology is uncertain, and it is frequently misdiagnosed as another cause of macrodactylia. This paperõreports a case of a 6 y.o. boy who presented overgrowth of the lst and 2nd digit of the right foot, and slight increase of the 3rd digit in the other foot. A multidisciplinary evaluation was performed, corresponding to the second case reported in Venezuela.

La Macrodistrofia lipomatosa (ML), es una causa infrecuente de gigantismo localizado, no hereditario caracterizado por proliferación progresiva de todos los elementos mesenquimáticos, con un incremento desproporcionado en el tejido fibroadiposo en uno o más dedos de la extremidad afectada. Esta anormalidad congénita ocurre más frecuentemente en la distribución del nervio mediano en el miembro superior y nervio plantar en el miembro inferior. La etiología de la ML es incierta y es una entidad clínica que con frecuencia es diagnosticada erróneamente como otras formas de macrodactilia. Reportamos el caso de un escolar de 6 años de edad quien presentó sobrecremiento de 1º y 2º ortejo del pie derecho y leve aumento del 3º ortejo del pie contralateral. Esta paciente fue evaluada de forma multidisciplinaria en nuestra institución y corresponde al segundo caso de MLõreportado en Venezuela.

Ubicación tipográfica de la esteatosis pancreática diagnosticada por ecoendoscopia clasificada según los patrones sonográficos y probable relación con edad y sexo / Topographic location of endoscopy diagnosed pancreatic steatosis, classified according to sonographic patterns and age & sex relationship likelihood

La esteatosis pancreática es un factor de riesgo para pancreatitis y procesos malignos del páncreas. La ecoendoscopia permite diagnosticar la Esteatosis Pancreáticas, su morfología y la topografía de los patrones fonográficos, que ella presenta. Evaluar las probables relaciones entre la clasificación desde el punto de vista morfológico y topográfico de los patrones sonográficos de la Esteatosis Pancreática diagnosticada por Ecoendoscopia y los factores determinantes tales como edad y sexo. Se tomaron para el estudio 192 pacientes con esteatosis pancreática, 106 mujeres y 86 hombres con un promedio de edad de 55 años. Se caracterizaron de acuerdo a los patrones sonográficos, encontrados y a la ubicación topográfica en la anatomía del páncreas, se estableció además la incidencia de la edad y el sexo. Topográficamente de acuerdo a la ubicación se encontró: en todo el páncreas 77.76%, istmo cuerpo y cola 10.9%, cuerpo y cola 3,6%; en proceso uncinado 2.6%, en todos estos casos la mayoría le correspondió al sexo femenino con edad promedio de 45 a 50 años. Hubo una incidencia del 50% para cada sexo en: istmo y cuerpo 1.04%, y cabeza y uncinado 3.1%. Hubo una incidencia del 100% en el sexo femenino en la ubicación: cabeza 0.5% y cuerpo 0.5%. Con edad promedio de 56 y 47 años respectivamente. Patrones endosonográficos encontrados, Patrón Difuso: 90 pacientes, mayormente del sexo femenino; 40% leve, 31,1% moderado, 24. 4% severo y no clasificado 4.5%. Patrón Heterogéneo: 82 pacientes mayormente del sexo masculino, 59.9% en Parches, 21,9% Moteado y no clasificados 18.2%. Del total, 20 pacientes presentaron un patrón mixto es decir difuso y heterogéneo con 55% a predominio del sexo masculino. La Endosonografîa nos permite obtener información mucho más detallada sobre el comportamiento de la Esteatosis Pancreática, su ubicación, sus patrones, el estudio de su comportamiento desde el inicio hasta su completa evolución...

Pancreatic steatosis is a risk factor for pancreatitis and pancreatic malignancies. EUS allows to diagnose, and to detect the morphology and the topography of sonographic patterns of Pancreatic Steatosis. To evaluate the probable relationships between the classification from the standpoint of morphological and topographical sonographic patterns of pancreatic steatosis diagnosed by Echoendoscopy and determinants such as age and sex. Study took 192 patients with pancreatic steatosis, 106 women and 86 men with an average age of 55. Were characterized according to the sonographic patterns, topography and location found in the anatomy of the pancreas, it also established the impact of age and sex. Topographically according to the location was found: in the whole pancreas 77.76%, isthmus, body and tail 10.9%, body and tail 3.6%, uncinate process 2.6% in all these cases the majority were females, mean age 45 to 50 years. There was an incidence of 50% for each sex: isthmus and body 1.04%, and 3.1%. head and uncinate There was an incidence of 100% in females in the locations: head 0.5% and body 0.5%. With an average age of 56 and 47 years respectively. Endosonographic patterns found, diffuse pattern: 90 patients, mostly female, 40% mild, 31.1% moderate, 24. 4% severe and 4.5% unclassified. Heterogeneous pattern: 82 patients mostly male, 59.9% in patches, 21.9% Mottle and 18.2% unclassified. Of the total, 20 patients had a mixed pattern, diffuse and heterogeneous with 55% male predominance. Endosonography allows much more detailed information about the behavior of pancreatic steatosis, their location, patterns, the study of their behavior from the beginning to its full development...

Lipomatosis intestinal múltiple: informe de un caso / Multiple intestinal lipomatosis: case report

Introducción: La lipomatosis intestinal es una rara enfermedad con una incidencia en autopsias de 0.04 a 4.5 %. Pocos casos se han informado en la literatura médica. La condición es por lo general asintomática. Los casos sintomáticos se presentan con obstrucción o, con menor frecuencia, hemorragia. Los estudios con bario, ultrasonografía y tomografía computarizada son los procedimientos diagnósticos más comunes. Caso clínico: Hombre de 51 años de edad evaluado por dolor abdominal progresivo, taquicardia, cefalea y náusea. Fue estudiado un año antes por hemorragia gastrointestinal sin diagnóstico definitivo. La tomografía computarizada de abdomen con contraste demostró múltiples masas submucosas en estómago e intestino delgado. Las características del estudio con bario y tomografía computarizada fueron típicas de lipomatosis, por lo que no se realizaron procedimientos invasivos o quirúrgicos. El paciente se ha mantenido asintomático por un año. Conclusiones: Los tumores benignos del intestino delgado son relativamente raros, siendo el lipoma el tipo más común. El caso informado es inusual debido a la afección de estómago, duodeno, yeyuno e íleon. Los lipomas por lo general se presentan con superficie lisa y defectos de llenado no ulcerados. Con los hallazgos radiológicos típicos es posible hacer el diagnóstico preoperatorio si se considera esta rara enfermedad.

BACKGROUND: Intestinal lipomatosis is a rare disease with an incidence at autopsy ranging from 0.04 to 4.5%. Few cases have been reported in the medical literature. The condition is usually asymptomatic. Symptomatic cases usually present as obstruction or, less frequently, as bleeding. Intestinal barium studies, ultrasonography and computed tomography (CT) are useful diagnostic techniques. CLINICAL CASE: A 51-year-old male was evaluated for progressive abdominal pain, tachycardia, headache and nausea. One year before this examination, he was evaluated for gastrointestinal bleeding. Abdominal CT with contrast enhancement demonstrated multiple submucosal masses in stomach and small bowel. CT and barium examination features were typical of lipomas. No specific treatment, invasive procedures or surgery were performed for the asymptomatic intestinal lipomas. The patient has remained symptom-free for 1 year. CONCLUSIONS: Benign tumors of the small bowel are relatively rare, with lipoma being the most common type. The case reported here is considered to be unusual because stomach, duodenum, jejunum and ileum were affected. Lipomas are usually seen as smooth, nonulcerated filling defects. With these typical radiographic findings, preoperative diagnosis is possible keeping in mind this rare disease.

Macrodystrophia lipomatosa: a case report.

Macrodystrophia lipomatosa is a rare congenital form of localized gigantism, characterized by an increase in all mesenchymal elements, particularly fibroadipose tissue. The areas of predilection are segments supplied by the median or plantar nerves. We report such a rare case in a thirty four year old male patient, who presented with a swelling of the right upper limb and a marked increase in the size of the right thumb, index finger and radial half of the right hand, present since birth, with progressive increase to the present size. Amputation of the right thumb and debulking of the palm was done. The specimen measured 26 x 18 x 12 cms. and the thumb alone measured 13 x 7 x 7 cm. histology revealed hypertrophy of adipose tissue in the subcutaneous compartment and infiltration into the nerve sheaths and muscles.

Isolated symmetrical mediastinal lipomatosis.

Symmetrical mediatinal lipomatosis is a rare benign condition characterized by deposition of a large amount of mature adipose tissue within the mediastinum. Usually secondary to exogenous obesity, administration of steroids and Cushing's disease, it is more common in middle-aged males and is associated with alcohol abuse. Various other associations have been reported. CT and MRI can decisively diagnose this benign condition, which also helps in deciding treatment options. We present a case of a young female with a bizarre appearance on chest radiographs. Isolated, bilaterally symmetrical mediastinal lipomatosis was diagnosed on CT and MRI. The patient was thin and did not consume alcohol or steroids. Cushing's disease and other known associations were excluded.

Endoscopic retrograde pancreatographic findings of pancreatic lipomatosis

Pancreatic lipomatosis is characterized by fatty infiltration or replacement of the pancreas, and has been associated with many conditions. We recently experienced two cases of pancreatic lipomatosis in patients with pancreatic pseudocyst and a case of lipomatosis in diabetes mellitus. In these patients, abrupt obstruction of the main pancreatic duct with smooth tapering is a typical endoscopic retrograde pancreatography (ERP) finding of pancreatic lipomatosis and must be differentiated with pancreatic carcinoma.

Tumores cutáneos dolorosos: segunda parte / Painful cutaneous tumors: second part

Se describe una serie clínico-patológica de tumores cutáneos habitualmente dolorosos y se revisan las características de cada uno de ellos, lipomatosis dolorosa, neurilemoma, neuroma, nevo azul en tetina de goma, sinovialoma, tumor de células granulosas y tumor glómico

Lipomatosis epidural espinal. Introducción al abordaje multidisciplinario / Spinal epidural lipomatosis. Introduction to the multidisciplinary approach

Hacemos una revisión de la literatura, analizando el desarrollo de la lipomatosis epidural espinal y algunas de sus posibles causas; asimismo, proponemos tratamientos alternos para quellos enfermos que no cubren las condiciones quirúrgicas adecuadas y referimos algunas de las diferentes propuestas quirúrgicas y sus indicaciones

Compresión sacorradicular por lipomatosis lumbosacra / Symptomatic spinal epidural lipomatosis myelographic, CT and MR features

En un contexto de obesidad y/o corticoterapia prolongada, el incremento en el volumen del tejido adiposo epidural normal de la columna lumbosacra, puede ser causa de compresión sacorradicular simuladora de estrechez canalar o hernia discal. Entre 1986 y 1995 se estudiaron 6 pacientes con sacrorradiculografía, TC y RM. En todos los casos se observó hipertrofia de la grasa epidural responsable del cuadro compresivo

Hérnia de disco lombar e lipomatose epidural: relato de caso e revisäo da literatura / Lumbar disc hernia and epidural lipomatosis: case report and review of the literature

Os autores relatam caso de lipomatose epidural e pretendem alertar para a necessidade de pensar nesta patologia como diagnóstico diferencial nos casos de pacientes com sintomatologia de compressäo medular, concomitantemente com dor nas costas, com ou sem radiculopatia, e que tenham feito uso de corticóide, mesmo em baixas doses. Esta é uma patologia rara, apresentando poucos casos descritos na literatura mundial.

Shwachman-Diamond syndrome: the clinical imitador of cystic fibrosis

In this case we report the autopsy findings of a four-month-old boy with the diagnosis of Shwachman-Diamond syndrome. The clinical and pathologic findings are discussed with emphasis on the differential diagnosis of cystic fibrosis and a brief review of current literature