Fracaso intestinal y trasplante en la enfermedad por inclusiones microvellositarias / Intestinal failure and transplantation in microvillous inclusion disease

INTRODUCCIÓN: La enfermedad por inclusiones microvellositarias es una entidad rara, de herencia autosómica recesiva y caracterizada por una diarrea grave de carácter secretor que produce un fracaso intestinal permanente dependiente de nutrición parenteral. Habitualmente se inicia en el período neonatal y el único tratamiento posible en el momento actual es el trasplante intestinal. PACIENTES Y MÉTODOS: Se revisa, de forma retrospectiva, a 6 pacientes (3 varones y 3 mujeres), diagnosticados entre 1998 y 2013 de enfermedad por inclusiones microvellositarias. RESULTADOS: Todos comenzaron en el primer mes de vida, con una mediana de edad de tres días (rango: 3-30 días) y presentaron diarrea secretora dependiente de nutrición parenteral, con un volumen fecal en ayunas de 150-200ml/kg/día. La microscopia óptica de muestras biópsicas duodenales mostró grados variables de atrofia vellositaria sin hiperplasia críptica, con acumulación de material PAS positivo en el citoplasma de los enterocitos del borde en cepillo y la inmunotinción anti-CD10 fue indicativa de inclusiones intracitoplasmáticas. La confirmación diagnóstica se realizó con microscopia electrónica. En 2 de ellos se realizó estudio genético que demostró mutaciones en el gen MYO5B. Evolutivamente, 3 fallecieron y 3 se encuentran vivos; 2 de ellos portadores de trasplante intestinal y el tercero en espera de trasplante multivisceral

INTRODUCTION: Microvillous inclusion disease is a rare autosomal recessive condition, characterized by severe secretory diarrhea that produces a permanent intestinal failure and dependency on parenteral nutrition. It usually begins in the neonatal period, and the only treatment at present is intestinal transplantation. PATIENTS AND METHODS: A retrospective review was conducted on 6 patients (three males and three females) diagnosed with microvillous inclusion disease between 1998 and 2013. RESULTS: All debuted in the first month of life, with a median age of three days (range, 3-30 days), and had secretory diarrhea dependent on parenteral nutrition, with fasting fecal volume of 150-200ml/kg/day. Light microscopy of duodenal biopsy samples showed varying degrees of villous atrophy without cryptic hyperplasia, accumulation of PAS positive material in the cytoplasm of enterocytes brush border, and anti-CD10 immunostaining was suggestive of intracytoplasmic inclusions. Diagnostic confirmation was performed with electron microscopy. Two of them had a genetic study, and showed mutations in MYO5B gene. Three died and three are alive; two of them with an intestinal transplantation and the third waiting for a multivisceral transplantation

[Intestinal failure and transplantation in microvillous inclusion disease]. / Fracaso intestinal y trasplante en la enfermedad por inclusiones microvellositarias.

INTRODUCTION: Microvillous inclusion disease is a rare autosomal recessive condition, characterized by severe secretory diarrhea that produces a permanent intestinal failure and dependency on parenteral nutrition. It usually begins in the neonatal period, and the only treatment at present is intestinal transplantation. PATIENTS AND METHODS: A retrospective review was conducted on 6 patients (three males and three females) diagnosed with microvillous inclusion disease between 1998 and 2013. RESULTS: All debuted in the first month of life, with a median age of three days (range, 3-30 days), and had secretory diarrhea dependent on parenteral nutrition, with fasting fecal volume of 150-200ml/kg/day. Light microscopy of duodenal biopsy samples showed varying degrees of villous atrophy without cryptic hyperplasia, accumulation of PAS positive material in the cytoplasm of enterocytes brush border, and anti-CD10 immunostaining was suggestive of intracytoplasmic inclusions. Diagnostic confirmation was performed with electron microscopy. Two of them had a genetic study, and showed mutations in MYO5B gene. Three died and three are alive; two of them with an intestinal transplantation and the third waiting for a multivisceral transplantation.

Hepatectomía laparoscópica de lesión hiperplásica hepática / No disponible

No disponible

Pancreatic neuroendocrine tumors. Report of nine cases.

BACKGROUND/AIMS: Tumors of the endocrine pancreas are infrequent, and their malignant behavior is assessed only in the presence of lymph node or hepatic metastases. We present 9 new cases from the past 11 years. METHODOLOGY: We reviewed the clinical records of 9 patients diagnosed of pancreatic neuroendocrine tumors, analyzing age, sex, past medical history, symptoms, clinical presentation, laboratory tests, imaging studies, operative findings, pathological diagnosis, mortality, morbidity and hospital stay. RESULTS: There were 5 women and 4 men, with a mean age of 48.7 years. In 4 patients the tumor presented with hypoglycemia. Malignant behavior was observed in 2 cases. We discuss the origin and classification of these tumors, as well as the best diagnostic and therapeutic approaches. CONCLUSIONS: Endocrine tumors of the pancreas affect middle aged men and women, presenting with specific signs or symptoms in less than half of the cases. In small tumors preoperative or intraoperative localization may be difficult. Most of the lesions are localized in the tail of the pancreas, and malignant behavior is seen in less than 25% of the cases.

Primary epithelioid leiomyosarcoma of bone. Case report and literature review.

We describe an epithelioid leiomyosarcoma of bone located in the right knee of a 51-year-old woman. Plain radiograph and CT scan revealed a poorly defined lytic and destructive mass in the upper metaepiphyseal right tibia which involved surrounding soft tissues. The lesion was composed of proliferating monotonous round cells with a high mitotic activity with scanty intersecting spindle cell fascicles. Immunohistochemistry of both areas demonstrated a strong positivity for actin (HHF-35 and alpha-SMA) and vimentin, and negative reactions for desmin, keratin (AE1 AE3), epithelial membrane antigen, S-100 protein, factor VIII-related antigen, CD 31 and CD 34. Ultrastructural study confirmed a diagnosis of leiomyosarcoma. This is the first detailed description of the microscopic and radiological features of primary epithelioid leiomyosarcoma of bone.

Primary aneurysmal cyst of soft tissue. Report of a case with ultrastructural and MRI studies.

We report a case of primary aneurysmal cyst of soft tissues in a 57-year-old woman presenting with a painful mass in her left arm. Conventional radiography showed a radiolucent soft tissue mass surrounded by a ring of bone. MRI displayed an unusual, ill-defined soft tissue lesion that was not connected to the nearby humerus and appeared to be an aggressive tumour. Microscopically, the mass consisted of multiple anastomosing cavernous channels surrounded by a peripheral band of mature trabecular bone. These bloody channels were separated by fibrous septa containing fibroblasts, histiocytes and multinucleated giant cells, as well as fibromyxochondroid material. Some of these giant cells lined the septa and partially occupied the lumen of the channels. Ultrastructurally, the features observed in this tumour were similar to those described in aneurysmal bone cyst; the giant cells lining the septa were an additional observation. Whereas most bone tumours have a well-known extraosseous counterpart, this unique lesion is not well recognized by surgical pathologists and the few published cases have been reported under different names. Gross, microscopic, radiological and ultrastructural findings are presented to familiarize pathologists with this underdiagnosed condition.

Cystic adenomatoid tumor of the uterus.

We describe a case of cystic adenomatoid tumor of the uterus in a 38-year-old woman. The tumor was a subserosal cystic mass with a maximum diameter of 8 cm and located at the posterior wall of the right cornual region. Histologically, the tumor was composed of multiple cavities lined by flattened cells, lying among thin septa of connective tissue. The neoplasm showed small solid areas with a more typical histologic pattern of adenomatoid tumor. Immunohistochemical techniques showed the cells to be positive for keratins. They showed desmosomes, abundant intracytoplasmic filaments, and microvilli on ultrastructural study. The histologic, immunohistochemical, and ultrastructural characteristics of the present case closely resemble those of benign cystic mesothelioma and strongly support the mesothelial origin of the adenomatoid tumor of the uterus.