Evelia Ojeda

Sonographic findings in brucellar hepatic abscess

Brucellar hepatic abscesses are rare; to our knowledge, only 41 cases have been described in the literature. We report the case of a 29‐year‐old Spanish woman who was hospitalized because of fever, weakness, and weight loss. Abdominal sonography showed a hypoechoic lesion with central calcification. Brucella spp. were not isolated from an aspirate of the liver or blood cultures. The diagnosis was based on the association of characteristic sonographic features (central calcification and peripheral necrotic areas) and positive Brucella agglutination tests. The patient improved rapidly with antibiotic treatment.

Glucogenosis tipo III asociada a carcinoma hepatocelular

Type III glycogen storage disease is a hereditary disorder with autosomal recessive transmission. It is characterized by accumulation of abnormal glycogen in the liver and, in 80% of patients, in muscle. The liver can also show fibrosis and sometimes cirrhosis. Until 2000, 9 cases of cirrhosis had been published, 3 of which showed associated hepatocarcinoma. We present the case of a 31-year-old woman, diagnosed in childhood with type III glycogen storage disease, who 30 years after onset developed a hepatocellular carcinoma with portal thrombosis in the context of advanced cirrhosis. This is the first case to be reported in the Spanish literature of type III glycogen storage disease associated with hepatocellular carcinoma.

Whipple's disease in Spain: a clinical review of 91 patients diagnosed between 1947 and 2001

BACKGROUND To determine the epidemiological, clinical, diagnostic and therapeutic characteristics of Whipple s disease in Spain. PATIENTS AND METHOD Cases of Whipple s disease reported in the Spanish literature between 1947 and 2001 which meet histological or PCR criteria are reviewed. RESULTS 91 cases were included, 87.5% of which were male. The maximum incidence was between 40 and 60 years of age (68%). There was no family clustering or susceptibility by profession or surroundings. The most common symptoms and signs were: weight loss (80%), diarrhoea (63%), adenopathies (35%), skin problems (32%), abdominal pain (27%), fever (23%), joint problems (20%) and neurological problems (16%). Arthralgias, diarrhoea and fever were noted prior to diagnosis in 58, 18 and 13% of patients, respectively. Diagnosis was histological in all cases except two, which were diagnosed by PCR. Intestinal biopsy was positive in 94%. Adenopathic biopsies (mesenteric or peripheral) were suggestive in 13% of cases, and treatment was effective in 89%. There were nine relapses, four of which were neurological, although all occurred before the introduction of cotrimoxazole. CONCLUSIONS Whipple s disease is not uncommon, although it requires a high degree of suspicion to be diagnosed in the absence of digestive symptoms. The most common and most sensitive diagnostic method is duodenal biopsy. PCR is beginning to be introduced to confirm the diagnosis and as a therapeutic control. Initial antibiotic treatment with drugs that cross the blood-brain barrier, such as cotrimoxazole and ceftriaxone, is key to achieving a cure and avoiding relapses.

Tumor de Krukenberg secundario a carcinoma gástrico en una gestante de ocho meses

Resumen La asociacion de cancer gastrico y embarazo es infrecuente. Los casos publicados por autores no japoneses son escasos. El diagnostico del tumor suele establecerse en estadios avanzados ya que la gestacion enmascara los sintomas de la neoplasia gastrica. Se presenta el caso de una mujer de 43 anos que en el octavo mes del embarazo fue diagnosticada de un tumor de Krukenberg secundario a un carcinoma gastrico. Tras la induccion del parto y nacimiento de una nina sana, se realizo quimioterapia y cirugia, falleciendo a los 12 meses del diagnostico.

Alteraciones hepáticas por déficit de alfa-1-antitripsina en adultos. Estudio de 5 pacientes y análisis de los casos publicados en la bibliografía española

BACKGROUND: To determine the epidemiological characteristics of liver disease secondary to alpha-1-antitrypsin deficiency and associated processes in the Spanish population. PATIENTS AND METHOD: We reviewed the medical records of adults with liver abnormalities due to alpha-1-antitrypsin deficiency diagnosed between 1981 and 2001 in the Hospital Donosti in San Sebastian (Spain) as well as the cases published in the literature before 1999. Diagnosis was based on clinical and biochemical data, imaging tests and/or liver biopsy and/or necroscopy together with serum values of alpha-1-antitrypsin and phenotyping. RESULTS: Fifty cases of liver disease secondary to alpha-1-antitrypsin deficiency (45 from the literature and 5 from our hospital) were included. There were 34 men and 16 women aged between 18 and 77 years. Fifteen (30%) had relatives with alpha-1-antitrypsin deficiency. Hepatitis and/or neonatal cholestasis were confirmed in 4 and alcoholism was confirmed in 17. Of the series, 8 (16%) had portal fibrosis and 29 (58%) had cirrhosis. Cirrhosis was mainly macro-micronodular and was decompensated in 48% of the cases. Of the patients with cirrhosis, 12 were ZZ homozygotes and 12 were heterozygotes, mainly MZ and SZ. The most frequent associated process was respiratory disease (emphysema and/or chronic bronchitis) in 25 of the 50 cases (50%). CONCLUSIONS: The presence of cirrhosis in alpha-1-antitrypsin deficiency is low, approximately 2.2/100,000 for ZZ homozygotes. Age at diagnosis of cirrhosis or fibrosis was more than 50 years. The male-to-female ratio was 2 to 1. In one-third of the patients alcohol could have been a coadjuvant or aggravating factor in the liver disease. No differences were found between homo- and heterozygote phenotypes in patients with cirrhosis. The most frequently associated processes were respiratory diseases due to alpha-1-antitrypsin deficiency.

Características clínicas y moleculares de una familia con síndrome de neoplasia endocrina múltiple tipo 1

BACKGROUND The clinical features of multiple endocrine neoplasia type-1 (MEN-1) syndrome are hyperplasia or adenoma of the parathyroid glands, pituitary adenoma and gastroenteropancreatic endocrine tumors. This syndrome is due to mutations in the MEN1 gene, located on the q13 region of chromosome 11. Prognosis depends on tumoral growth and metastatic potential. PATIENTS AND METHOD We reviewed the medical records of the members of a family (6 men and 2 women) with MEN-1 syndrome diagnosed between 1995 and 2007 in Hospital Donostia, San Sebastian (Spain). Familial study of all patients and family members (19 cases from 2 generations) was performed in 2 phases. The first phase consisted of mutation screening and the second of multiplex ligation-dependent probe amplification (MLPA) to detect deletions. RESULTS Screening of mutations identified no pathogenic variants in the proband of this family. MLPA revealed a deletion affecting exons 1 and 2 of the MEN1 gene. Of the 10 family members with this molecular alteration, 8 had at least one phenotypic feature of this syndrome (hyperparathyroidism in 8, prolactinomas in 2, and gastrinomas in 3) after 12 years of follow-up. CONCLUSION We discuss the clinical forms of MEN-1 syndrome in this family and the molecular alteration found. Study of MEN1 gene deletions should be incorporated into routine molecular screening.Resumen Introduccion Los rasgos clinicos del sindrome de neoplasia endocrina multiple tipo 1 (NEM-1) son: hiperplasia o adenoma de las glandulas paratiroides, adenoma hipofisario y tumores endocrinos gastroenteropancreaticos. Se debe a mutaciones del gen MEN1, localizado en la region q13 del cromosoma 11. El pronostico de los pacientes depende del crecimiento tumoral y de su potencial metastatico. Pacientes y metodo Se revisan las historias clinicas de los miembros de esta familia (6 varones y 2 mujeres) con NEM-1 diagnosticados entre 1995 y 2007 en el Hospital Donostia de San Sebastian. El estudio familiar de todos los pacientes y familiares (19 casos de 2 generaciones) se hizo en dos fases. La primera, mediante tecnica de cribado de mutaciones y la segunda, por multiplex ligation-dependent probe amplification (MLPA) para detectar deleciones del gen. Resultados El cribado de mutaciones no permitio identificar ninguna variante patogenica en el probando de esta familia. El estudio mediante MLPA revelo una delecion que afectaba al exon 1 y 2 del gen MEN1. De los 10 familiares con esta alteracion molecular, 8 presentaron algun rasgo fenotipico del sindrome (8 con hiperparatiroidismo, 2 con prolactinomas y 3 con gastrinomas) tras 12 anos de seguimiento. Conclusion Se comentan las formas clinicas del sindrome NEM-1 en esta familia y la alteracion molecular encontrada. El estudio de deleciones del gen MEN1 deberia incorporarse al cribado molecular sistematico.

Absceso de psoas complicando la enfermedad de Crohn: estudio de 5 pacientes

El absceso de psoas (AP) secundario a enfermedad de Crohn (EC) se produce a partir de la fistulización y microperforación de la pared posterior del íleon terminal en el músculo psoas. El AP puede presentarse como primera manifestación de la EC (26% de los casos) (1) o durante la evolución de los pacientes con este proceso. Se analizan 5 casos de AP en pacientes con EC de evolución tórpida y afectación del íleon terminal. Se revisaron las historias clínicas de los enfermos de Crohn diagnosticados entre enero de 1993 y agosto de 2002 en el hospital Donostia de San Sebastián. Se estudiaron 117 pacientes (74 hombres y 43 mujeres) que fueron causa de 194 admisiones en el Servicio de Digestivo (2,3% del total de ingresos). De la serie, cinco tuvieron un AP derecho. Los cinco pacientes (3 hombres y 2 mujeres) tenían una edad comprendida entre 25 y 47 años (promedio 40 años y 5 meses). En los cinco casos la EC afectaba al íleon terminal y en cuatro, además, al colon ascendente, transverso y/o sigma. En uno el absceso atrapaba al uréter y daba lugar a una hidronefrosis, en otro incluía el apéndice cecal y disecaba las apófisis espinosas de las vértebras contiguas. En otro caso el absceso se extendía hacia el músculo recto anterior del abdomen. El tiempo trasncurrido desde el diagnóstico de la EC hasta la aparición del AP varió entre 10 meses y 20 años. En todos los enfermos hubo síndrome febril, presencia de masa palpable en FID, dolor que aumentaba con la hiperextensión de la cadera, VSG elevada, anemia, leucocitosis y trombocitosis. Los métodos de imagen (ECO y TAC) fueron diagnósticos en los 5 casos (Figs. 1 y 2) y en 2 se observó el trayecto fistuloso. Los cultivos de pus del absceso fueron positivos en dos. Se hallaron varios gérmenes (P. aeruginosa, E. aglomerans y B. fragilis). Los tres con cultivo negativo habían recibido antibióticos con anterioridad. Se intervino quirúrgicamente a cuatro pacientes: dos con drenaje extraperitoneal y otros dos con drenaje más resección de íleon y/o colon. A las 4-6 semanas, dos de los 4 operados precisaron drenaje y/o resección del íleon y colon además de antibioterapia por recidiva del absceso. Los abscesos intraabdominales ocurren aproximadamente en el 10-25% de los pacientes con EC (2). Los abscesos musculares más habituales son los del psoas (5% de los pacientes con EC) y, más raramente, los de glúteos. Los hepáticos, raquídeos y presacros son excepcionales. En 1954, Van Patter y cols. (3) de la Clínica Mayo describieron el primer caso de AP secundario a EC. Hasta 1985 se habían publicado 49 casos en la literatura médica (1). El AP complicando la EC puede disecar el músculo caudal o la pared posterior del abdomen y llegar hasta la región crural o lumbar respectivamente. Se presenta sobre todo en pacientes con más de 7 años de evolución, afectación intestinal extensa y que Cartas al Director 1130-0108/2006/98/5/391-395 REVISTA ESPAÑOLA DE ENFERMEDADES DIGESTIVAS Copyright

Diagnosis of Whipple's disease using molecular biology techniques

The diagnosis of Whipples disease (WD) is based on the existence of clinical signs and symptoms compatible with the disease and in the presence of PAS-positive diastase-resistant granules in the macrophages of the small intestine. If there is suspicion of the disease but no histological findings or only isolated extraintestinal manifestations, species-specific PCR using different sequences of the T. whippleii genome from different tissue types and biological fluids is recommended.This study reports two cases: the first patient had diarrhea and the disease was suspected after an endoscopic examination of the ileum, while the second patient had multi-systemic manifestations,particularly abdominal, thoracic, and peripheral lymphadenopathies. In both cases, the diagnosis was confirmed using molecular biology techniques to samples from the small intestine or from a retroperineal lymph node, respectively.

Manifestaciones infrecuentes de la enfermedad de Whipple. Estudio de cuatro casos

Resumen La enfermedad de Whipple (EW) cursa habitualmente con afeccion intestinal y con frecuencia el diagnostico se basa en la existencia de malabsorcion y sindrome toxico. Se presentan cuatro pacientes con EW que tuvieron manifestaciones poco comunes: tos seca persistente, dolor abdominal y estrenimiento, suboclusion intestinal y sintomas neuropsiquiatricos. Se analizan estas manifestaciones clinicas y se compara su frecuencia entre las series mas numerosas de la literatura descritas hasta la actualidad.

Características clínicas y moleculares de una familia con síndrome de Alagille

BACKGROUND AND OBJECTIVE: The Alagille syndrome (AS) is characterized by biliary ductopenia and abnormalities of heart, eyes, face, bones, kidneys and brain with a dominant inheritability. Mutations of Jagged 1 gene are observed in individuals with the full syndrome and/or relatives with little or no phenotypic features. Prognosis of patients depends on the hepatic and cardiovascular involvement. PATIENTS AND METHOD: We present the cases of a woman and her 2 male nephews with AS. We performed a molecular study of the Jagged 1 gene in family members with and without the syndrome. RESULTS: The molecular study detected mutations in the position 2785+2 of TAAG (intron 19) of the Jagged 1 gene in 3 relatives with the full syndrome and in 2 other members with a partial syndrome. Other relatives, without mutation, have some of the phenotypic features of it. CONCLUSIONS: We comment on the clinical forms of AS in this family and the detected mutation. Molecular diagnosis allows to make a genetic counsel.