Hemangioma cavernoso / Cavernous Hemangioma

Introducción: El hemangioma cavernoso es una de las neoplasias benignas más frecuentes en la infancia. Objetivo: Describir el caso de un hemangioma cavernoso en edad pediátrica. Caso clínico: Lactante femenina de 6 meses de edad, de procedencia urbana, cuyo nacimiento tuvo lugar en el Hospital Materno Fe del Valle Ramos, del municipio Manzanillo. Al nacer se observa una lesión en forma placa eritematosa violácea infiltrada de ± 10 cm, de borde definido, de superficie liza, con aumento de temperatura al tacto, que se extendía desde la parte medial anterior y posterior hasta la superior de la pierna del miembro inferior izquierdo. Se decidió interconsultar con el Servicio de Angiología, el cual diagnostica la lesión como hemangioma cavernoso. Conclusiones: Se corroboró que el hemangioma cavernoso es una entidad frecuente en la infancia, su diagnóstico y tratamiento oportunos son altamente beneficiosos para la mejoría y la cura, por lo que se impone la realización de un correcto y exhaustivo examen físico, de lo que se deriva también la prevención de complicaciones a corto, mediano y largo plazo(AU)

Introduction: Cavernous hemangioma is one of the most frequent benign neoplasms in childhood. Objective: To describe the case of a cavernous hemangioma at pediatric age. Clinical case: A 6-month-old female infant of urban origin was born at Hospital Materno Fe del Valle Ramos, Manzanillo Municipality, Granma Province. At birth, a violaceous erythematous plaque-like infiltrated lesion was observed, of approximately 10 cm, with a defined border, smooth surface, increased temperature at hand contact, extending from the anterior and posterior medial part to the upper leg of the left lower limb. It was decided to do an interconsultation with the angiology service, which diagnosed the lesion as a cavernous hemangioma. Conclusions: Cavernous hemangioma was corroborated to be a frequent entity in childhood, whose timely diagnosis and treatment are highly beneficial for improvement and cure, so it extremely necessary to carry out a correct and exhaustive physical examination, also deriving the prevention of complications in the short, medium and long terms(AU)

Resección laparoscópica de tumor hepático / Laparoscopic Resection of Hepatic Tumor

Introducción: La cirugía laparoscópica desde su introducción en 1987 ha experimentado un enorme desarrollo. La cirugía hepática laparoscópica de los tumores hepáticos plantea diversas controversias: los cirujanos deben estar formados en cirugía hepática y cirugía laparoscópica, la técnica laparoscópica más adecuada no está bien definida (totalmente laparoscópica o asistida con la mano), el abordaje o disección de grandes vasos entraña riesgos importantes, los métodos de sección parenquimatosa están menos desarrollados que en la cirugía hepática abierta entre otros retos. A pesar de estos criterios existen situaciones en que la cirugía puede llevarse a cabo con seguridad, sobre todo en tumores benignos y malignos cuando las lesiones se localizan principalmente en segmentos anteriores del hígado. Objetivo: Presentar una paciente portadora de una lesión hepática intervenida quirúrgicamente por videolaparoscopía con buenos resultados y evolución excelente. Caso clínico: Paciente femenina de 42 años de edad; antecedentes de salud con presencia de dolor abdominal de tres meses de evolución en región de hipocondrio derecho y trastornos dispépticos esporádicos. Se confirmó imaginológicamente un tumor de 5 cm de diámetro en segmento III, de aspecto hemangiomatoso con componente mixto y sospecha de malignidad. Se realizó resección laparoscópica, el diagnóstico anatomopatológico fue nódulo regenerativo, tipo nódulo cirrótico con hemangioma cavernoso de localización periférica en hígado sano, sin evidencias de malignidad en los estudios realizados. Conclusiones: Las resecciones quirúrgicas de lesiones hepáticas abordables por vía laparoscópica son una opción terapéutica segura y muy válida en pacientes con indicaciones específicas(AU)

Introduction: Laparoscopic surgery, since its introduction in 1987, has undergone enormous development. Laparoscopic hepatic surgery of liver tumors raises several controversies: surgeons must be trained in hepatic surgery and laparoscopic surgery, the most appropriate laparoscopic technique is not well defined (totally laparoscopic or hand-assisted), the approach to or dissection of large vessels involves significant risks, the methods for parenchymal section are less developed than in open hepatic surgery, among other challenges. Despite these criterions, there are situations in which the surgery can be performed safely, above all in benign and malignant tumors when the lesions are located mainly in anterior segments of the liver. Objective: To present the case of a patient with a hepatic lesion and operated on by videolaparoscopy with good outcomes and excellent evolution. Clinical case: A 42-year-old female patient with a family history of disease presented abdominal pain of three months of evolution in the right hypochondrium and sporadic dyspeptic disorders. Imaging confirmed a tumor of 5 cm of diameter in segment III, with hemangiomatous aspect, mixed component and suspicion of malignancy. Laparoscopic resection was performed; the anatomopathological diagnosis was regenerative nodule, similar to a cirrhotic nodule with cavernous hemangioma of peripheral location in healthy liver, with no evidence of malignancy in the performed studies. Conclusions: Surgical resections of hepatic lesions that can be laparoscopically approached are a safe and very valid therapeutic option in patients with specific indications(AU)

Malformación venosa del útero / Uterine venous malformation

Resumen Las malformaciones venosas son lesiones vasculares benignas infrecuentes que se presentan en el útero. Están conformadas por venas anormales, de diferentes tamaños y proporciones, con configuración espongiforme y disposición al azar. En la literatura, han sido previamente reportados algunos casos, usando el término "hemangioma cavernoso", pero según los cambios recientes en la terminología, aprobados por Sociedad Internacional para el Estudio de las Anormalidades Vasculares (ISSVA), se desaconseja el uso de este término y se sugiere el de "Malformación venosa", si se cumplen los hallazgos histopatológicos al momento de hacer el diagnóstico. Presentamos el caso de una mujer de 44 años, con cuadro de hemorragia vaginal anormal y diagnóstico clínico de miomatosis y mioma abortado por el orificio cervical interno, el estudio histopatológico reveló la presencia de una malformación venosa que comprometía el miometrio y endometrio, con formación subsecuente de un pólipo.

Abstract Venous malformations are benign vascular lesions that rarely appear in the uterus. They are made up of abnormal veins, of different sizes and proportions, with spongiform configuration and random disposition. In the literature, some cases have been previously reported, using the term "cavernous hemangioma", but according to recent changes in terminology, approved by the International Society for the Study of Vascular Abnormalities (ISSVA), the use of this term is discouraged, and the diagnosis of Venous malformation is suggested, if the histopathological findings are met. We present the case of a 44-year-old woman, with abnormal vaginal bleeding and a clinical diagnosis of myomatosis and myoma aborted by the internal cervical orifice, in whom the histopathological study revealed the presence of a venous malformation that compromised the myometrium and endometrium, with subsequent formation of a polyp.

Hemangioma cavernoso / Cavernous Hemangioma

El hemangioma cavernoso es una neoplasia benigna de los vasos sanguíneos. Este trabajo tuvo como objetivo presentar el caso de un hemangioma cavernoso gigante que fue tratado con propranolol. El diagnóstico se realizó mediante examen físico, dúplex y otros complementarios de interés. Para la decisión de la conducta terapéutica, especialistas de diferentes especialidades evaluaron al paciente: Oncología, Dermatología, Ortopedia, Pediatría y Angiología. Una vez establecido el tratamiento, se realizó un seguimiento durante cuatro semanas y luego mensual. El resultado, después de 22 meses, fue la desaparición del hemangioma. El propranolol en el hemangioma cavernoso gigante debe ser el tratamiento de elección precoz para una evolución satisfactoria y evitar complicaciones(AU)

Cavernous hemangioma is a benign neoplasm of blood vessels. This work aimed at presenting the case of a giant cavernous hemangioma treated with propranolol. The diagnosis was made by physical examination, duplex Doppler sonography, and complementary tests of interest. For deciding the therapeutic approach, the patient was assessed by several specialists from different medical fields, such as oncology, dermatology, orthopedics, pediatrics, and angiology. Once the treatment was established, a follow-up was carried out for four weeks and then monthly. The outcome, after twenty-two months, was the hemangioma disappearance. Propranolol in giant cavernous hemangioma should be the treatment of early choice for a satisfactory evolution and to avoid complications(AU)

Hemangioma cavernoso de colon en un paciente joven / Cavernous hemangioma of the colon in a young patient

Resumen El hemangioma cavernoso de colon es una neoplasia vascular benigna, muy poco frecuente. Se realiza una breve descripción del cuadro clínico, diagnóstico y tratamiento de un paciente joven con un hemangioma cavernoso en el sigmoides. Se trata de un paciente de 18 años de edad quien consultó al servicio de urgencias por un cuadro clínico consistente en sangrado rectal indoloro asociado con disnea, astenia y adinamia; el paciente ingresó con signos vitales estables, posteriormente, se realizaron estudios complementarios, entre ellos un hemograma, que reportó un síndrome anémico grave que lleva al estudio de su causa. Se realizó una colonoscopia que reportó una lesión a nivel del sigmoides compatible con hemangioma colónico. El paciente es llevado a cirugía (laparotomía), se realizó una hemicolectomía y se confirmó el diagnostico por estudio de patología.

Abstract Cavernous hemangioma of the colon is a very rare benign vascular neoplasm. The following is a brief description of the symptoms, diagnosis, and treatment of a young patient with a cavernous hemangioma of the sigmoid colon. An 18-year-old man consulted the emergency department due to painless rectal bleeding associated with dyspnea, asthenia, and adynamia. The patient was admitted with stable vital signs, and complementary studies, including a blood count, reported severe anemic syndrome leading to the study of the cause of the disease. A colonoscopy was performed, finding a sigmoid lesion compatible with colon hemangioma. The patient was taken to surgery (laparotomy), a hemicolectomy was performed, and the diagnosis was confirmed by pathology study.

Hemangioma hepático gigante / Giant Hepatic Hemangioma

Introducción: Los hemangiomas hepáticos son lesiones no epiteliales que se observan con mucha frecuencia en piezas quirúrgicas resecadas por otras razones. Los hemangiomas que miden 10 cm o más, denominados "hemangiomas gigantes", pueden producir síntomas, como dolor y manifestaciones de un síndrome de reacción inflamatoria y coagulopatía. Los hemangiomas hepáticos son los tumores hepáticos primarios más frecuentes y están presentes en un 0,4-20 por ciento de la población general y es característico que se detecten de manera accidental durante la evaluación de síntomas abdominales inespecíficos. Objetivo: Presentar a una paciente portadora de un hemangioma gigante y características anatómicas peculiares intervenida quirúrgicamente con buenos resultados y evolución excelente. Caso clínico: Paciente de sexo femenino de 24 años de edad, portadora de un Hemangioma hepático gigante en segmento lateral, con variante anatómica vascular que dificultó la embolización y facilitó la cirugía. Se realizó una lobectomía hepática izquierda con una evolución clínica satisfactoria y sin complicaciones. Conclusiones: Las resecciones quirúrgicas de hemangiomas gigantes sintomáticos son una opción terapéutica segura y muy válida ante el fracaso de la embolización(AU)

Introduction: Hepatic hemangiomas are nonepithelial lesions much frequently observed in surgical specimens resected for other reasons. Hemangiomas ten centimeters or more, called "giant hemangiomas," can cause symptoms such as pain, as well as manifestations of an inflammatory reaction syndrome and coagulopathy. Hepatic hemangiomas are the commonest primary hepatic tumors, are present in 0.4-20 percent of the general population, and are typically accidentally detected during the evaluation of nonspecific abdominal symptoms. Objective: To present the case of a patient with a giant hemangioma and unusual anatomical characteristics, who underwent surgery with good outcome and excellent evolution. Clinical case: 24-year-old female patient with a giant hepatic hemangioma in the lateral segment, with a vascular anatomical variant that made embolization difficult and facilitated surgery. A left hepatic lobectomy was performed with satisfactory and uncomplicated clinical evolution. Conclusions: Surgical resections of symptomatic giant hemangiomas are a safe and very valid therapeutic option in case of embolization failure(AU)

Adrenal cavernous hemangioma: A case report and literature review / 北京大学学报(医学版)

A 57-year-old male patient was referred to our department with complaints of his right adrenal gland occupancy and hypertension about 6 months. When admitted to the hospital, the blood pressure was about 160/100 mmHg, and the heart rate was 110 beats/min. He was no obvious obesity, acne, abnormal mood, without weakness of limbs, acral numbness, palpitation and headache. He presented with type 2 diabetes for more than 3 years, with oral administration of metformin enteric coated tablets and subcutaneous injection of insulin glargine to control blood glucose, and satisfied with blood glucose control. Enhanced CT showed that: the right adrenal gland showed a kind of oval isodense, slightly hypodense shadow, the edge was clear, lobular change, the size was about 5.8 cm×5.4 cm, uneven density, there were nodular and strip calcification, round lipid containing area and strip low density area, and the CT value of solid part was about 34 HU. Enhanced scan showed heterogeneous nodular enhancement in the solid part of the right adrenal gland, nodular enhancement could be seen inside. The CT values of solid part in arterial phase, venous phase and delayed phase were 45 HU, 50 HU and 81 HU, respectively. Considering from the right adrenal gland, cortical cancer was more likely. No obvious abnormality was found in his endocrine examination. After adequate preoperative preparation, retroperitoneal laparoscopic adrenalectomy was performed under general anesthesia. During the operation, the 6 cm adrenal tumor was closely related to the inferior vena cava and liver, and after careful separation, the tumor was completely removed and normal adrenal tissue was preserved. The operation lasted 180 min and the blood loss was 100 mL, and the blood pressure was stable during and after the operation. There was no obvious complication. The results of pathological examinations were as follows: the size of the tumor was 7.5 cm×6.0 cm×3.5 cm, soft, with intact capsule and grayish-red cystic in section. Pathological diagnosis: (right adrenal gland) cavernous hemangioma, secondary intravascular thrombosis, old hemorrhagic infarction with calcification and ossification. After 6 months of observation, no obvious complications and tumor recurrence were found. In summary, cavernous hemangioma of adrenal gland is a rare histopathological change. Its essence is a malformed vascular mass. Blood retention is the cause of thrombosis and calcification in malformed vessels. The imaging findings were inhomogeneous enhancement of soft tissue masses, and the adrenal function examination showed no obvious abnormalities. Retroperitoneal laparoscopic surgery is feasible after adequate preoperative preparation. It is difficult to diagnose the disease preoperatively and needs to be confirmed by postoperative pathology.

Hemangioma de colon Descripción de caso y revisión de la literatura / HEMANGIOMA OF THE COLON. Case report and literature review

El hemangioma de colon y recto es una entidad poco frecuente. El tipo cavernoso, es aún más raro por lo que existen pocos reportes de esta patología. Afecta mayormente al recto y al sigmoides, y el modo de presentación más común es la proctorragia indolora en el 90% de los casos. Más frecuente en adultos jóvenes. Esta entidad para su diagnóstico requiere alta sospecha y la realización de los estudios pertinentes ya que suele confundírsela con patologías más comunes. En esta revisión se presenta el caso de un paciente masculino de 58 años con un hemangioma cavernoso de colon transverso que se manifestó inicialmente como hematoquecia asociada a astenia. Luego de realizar estudios complementarios, se decide conducta quirúrgica. Se realizó resección de colon transverso con buena evolución postoperatoria. El resultado de anatomía patológica nos informa Hemangioma Cavernoso de colon transverso.

The hemangioma of the colon and rectum is a rare entity. The cavernous type is even more rare, so there are few reports of this pathology. It mainly affects the rectum and the sigmoid, and the most common presentation is painless proctorrhagia in 90% of cases. More frequent in young adults. This entity for its diagnosis requires high suspicion and the realization of the pertinent studies since it is usually confused with more common pathologies. In this review we present the case of a 58-year-old male patient with a cavernous hemangioma of the transverse colon that initially manifested as hematochezia associated with asthenia. After performing complementary studies, surgical behavior is decided. Transverse colon resection was performed with good postoperative evolution. The result of pathological anatomy informs us Cavernous hemangioma of transverse colon

Malformaciones cavernosas cerebrales, presentación de 14 casos y revisión de literatura / Brain cavernous malformations, presentation of 14 cases and literature review

Objetivo: Presentar los resultados de tratamiento quirúrgico obtenidos en una serie de 14 casos de malformación cavernosa, situadas en diferentes localizaciones encefálicas, además de realizar una revisión bibliográfica sobre el tema. Material y métodos: En el periodo de los años 2014-2019, se diagnosticaron y protocolizaron 14 pacientes por medio de la consulta externa de neurocirugía del Hospital Juárez de México. Todos menos 2, fueron intervenidos quirúrgicamente. Resultados: En 12 de los 14 casos que recibieron tratamiento quirúrgico, se documentó mejoría neurológica posterior a la resección total en 10 pacientes, 1 paciente de cavernoma gigante temporal se hizo resección subtotal, en 1 paciente con lesión de localización protuberancial se le realizó únicamente drenaje de hematoma. El déficit preoperatorio tendió a mejorar progresivamente en las lesiones de mayor tamaño y en ningún caso se documentaron complicaciones, las crisis convulsivas se controlaron disminuyendo progresivamente la dosis de fármacos anticonvulsivantes en el periodo postquirúrgico de este grupo de pacientes. Y dos pacientes, uno con lesión mesencefálica y el otro con cavernomatosis solo se sometieron a observación. Conclusiones: La cirugía es el método de elección hoy en día para el tratamiento de las malformaciones cavernosas, siendo los mejores resultados a menor tamaño de la lesión y con localizaciones más superficiales. Los resultados quirúrgicos de nuestros pacientes son similares a lo reportado en la literatura mundial.

Objectives: To present the surgical outcomes obtained in a series of 14 cases of cavernous malformation, located in different brain locations, in addition to conducting a literature review on the subject. Method: Between the years, 2014 and 2019, 14 cases were diagnosed and protocolized in neurosurgery department of Hospital Juárez of México. All patients except two, were surgically treated. Results: In 12 of the 14 cases received surgical treatment, neurological improvement was documented after the total resection in ten patients, one patient with giant temporal cavernoma performed a subtotal resection, other case with a lesion in the pontine location a hematoma drainage was performed. All surgical patients the preoperative clinical deficit tended to improve progressively in larger lesions and no complications were documented. Seizures were controlled by gradually decreasing the dose of anticonvulsant drugs in the post-surgical period of this group of patients. And two patients, one with mesencephalic lesion and another with cavernomatosis, were only observe. Conclusion: Surgery is the method of choice today for the treatment of cavernous malformations, with the best outcome being the smallest size of the lesion and with more superficial locations. The surgical outcomes in our patients are similar to those reported in the world literature

Presentación inusual de hemangioma arteriovenoso trombosado de rodilla: reporte de caso / Unusual thrombosed arteriovenous hemangioma of the knee. Case report

Se presenta un caso de presentación inusual de hemangioma arteriovenoso trombosado de rodilla, en un paciente de sexo masculino de 54 años de edad quien consulta por dolor en cara anterior e interlínea interna de rodilla izquierda, y episodios de pseudobloqueos. Sin antecedente traumático previo. Debido a la lesión meniscal interna y la sospecha diagnóstica de tumor de partes blandas de rodilla, se indicó el tratamiento quirúrgico combinado, artroscopía para la resolución de la lesión meniscal interna y, por otro abordaje, biopsia escicional con remoción del tumor de partes blandas.El estudio anatomopatológico confirmó el diagnóstico de hemangioma arteriovenoso trombosado. Tipo de estudio: Reporte de caso. Nivel de evidencia: V

We present an unusual case of thrombosed arteriovenous hemangioma of the knee. A 54-year-old male patient, with pain about de left knee, with previous blocking episodes, without prior traumatic history.Due to the internal meniscus lesion and diagnostic suspicion of soft tissue tumor of the knee. Surgical treatment was considered, both, arthroscopy and mini open surgery.Surgical treatment was performed, arthroscopy and biopsy with removal of the soft tissue tumor. Histopathological findings confirmed the diagnosis of thrombosed arteriovenous hemangioma. Type of study: Case report. Level of evidence: V

Atypical Cavernous Hemangioma of the Trigeminal Nerve:Report of One Case / 中国医学科学院学报

Extracerebral cavernous hemangioma typically occurs in cavernous sinus in middle cranial fossa,showing iso-or hypointensity on T1WI,obvious hyperintensity on T2WI,and evident enhancement after contrast administration during magnetic resonance imaging(MRI).In this article we report one case of atypical cavernous hemangioma of the trigeminal nerve,with atypical MRI findings including isotense or slight long T2 signal,dotty short T1 signal,and non-enhancement on T1WI.

Selective Unidirectional Saccadic Palsy Due to Cavernous Angioma in the Pontine Tegmentum

No abstract available.

Cavernous Hemangioma of the Gallbladder: a Case Report

Cavernous hemangioma of the gallbladder is an extremely rare benign tumor. The tumor has only a few cases being reported in literature. However, to the best of our knowledge, no reports focusing on the MRI findings of cavernous hemangioma of the gallbladder have been published. This study reports a case of gallbladder hemangioma with pathologic and radiologic reviews, including MRI findings.

Synchronous Orofacial Granulomatosis in a Patient with Brain Cavernous Hemangioma

Orofacial granulomatosis is a rare granulomatous inflammatory disease, characterized by recurrent orofacial swelling. Infectious, genetic, and immunologic etiologies are suggested, but not fully understood. Herein, we report a case of synchronous orofacial granulomatosis with brain cavernous hemangioma in a 44-year-old female patient, which may be considered paraneoplastic syndrome.

A cavernous hemangioma located in the axillary area: Challenges in preoperative diagnosis and operation

Cavernous hemangiomas are benign neoplasms of endothelial cells. Although this neoplasm has the potential to develop in all parts of the body, it rarely develops in the axilla; in fact, there are only two case reports of axillary cavernous hemangiomas in the literature. Here, we describe a third case, which occurred in a 30-year-old Korean woman. The patient presented with a palpable mass in the left axilla that was initially thought to be either a phyllodes tumor or a lymphoma based on imaging studies. However, the results of an excisional biopsy led to a diagnosis of cavernous hemangioma. Although uncommon, a cavernous hemangioma can be encountered unexpectedly, presenting as a mass in axilla. Although usually curative, surgery may be challenging not only because of the rarity of the condition, but also because of inconsistent preoperative findings and the involvement of large vessels.

Extradural lumbar nerve root cavernous hemangioma: case report and successful surgical resection / Hemangioma cavernoso extradural de raiz nervosa lombar: relato de caso e ressecção cirúrgica bem-sucedida

Extradural lumbar spinal canal cavernous hemangiomas (or cavernomas) are rare lesions that can induce intense back pain and neurological deficit. We present a case report of a patient with a pure radicular lombar extradural cavernoma resembling a benign neurological tumor in imaging exams and a successful surgical resection.

Os hemangiomas cavernosos do canal vertebral lombar extradural (ou cavernomas) são lesões raras que podem induzir dor intensa no dorso e déficit neurológico. Apresentamos um relato de caso de um paciente com um cavernoma extradural lombar radicular puro assemelhando-se a um tumor neurológico benigno em exames de imagem e uma ressecção cirúrgica bem-sucedida.

Cavernoma portal complicada con biliopatía secundario a enfermedad de Gaucher tipo 1: reporte de un caso peruano / Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case

La enfermedad de Gaucher, es un trastorno autosómico recesivo de depósito lisosomal que se caracteriza por deficiencia de la beta-glucocerebrosidasa que lleva a la acumulación de glucosilceramida principalmente en células del sistema fagocítico mononuclear causando afectaciones sistémicas. Se presenta paciente varón de 20 años que cursa con dolor crónico en hipocondrio izquierdo con episodios de sangrados desde hace 3 años y sensación de alza térmica, al examen físico se identificó ictericia y esplenomegalia masiva, sin afectación neurológica. Como apoyo al diagnóstico se mostró osteoporosis severa, pancitopenia y como hallazgo inesperado la presencia de trombosis de vena porta con transformación cavernomatosa complicada con biliopatía portal simulando un tumor de klatskin, los estudios de médula y enzimáticos eran compatibles con enfermedad de Gaucher, por lo cual recibió tratamiento con imiglucerasa realizando seguimiento. Es un caso poco frecuente, de gran interés, heterogeneidad en sus manifestaciones clínicas e inéditas por su complicación, constituyendo un desafío llegar a su diagnóstico de esta enfermedad huérfana.

Gaucher disease is an autosomal recessive lysosomal storage disorder characterized by deficiency of beta-glucosidase that would lead to the accumulation of glucosylceramide mainly in cells of the mononuclear phagocytic system causing systemic effectations. We present a patient of twenty years who is suffering from chronic pain in the left hypochondrium with episodes of bleeding for 3 years and sensation of thermal rise, physical examination revealed jaundice and massive splenomegaly, without neurological involvement. Severe osteoporosis, pancytopenia, and the presence of portal vein thrombosis with cavernomatous transformation complicated by portal biliopathy simulating a klatskin tumor, marrow and enzymatic studies were compatible with Gaucher disease, were shown as unexpected findings. he received treatment with imiglucerase, following up. It is a rare case, of great interest, heterogeneity in its clinical manifestations and unpublished by its complication, constituting a challenge to reach its diagnosis of this orphan disease.