Extensive mesenteric lipodystrophy of the left colon: case report and brief review of the literature.

Mesenteric lipodystrophy is a rare inflammatory process that predominantly affects mesenteric adipose tissue of the small bowell. Several mechanisms have been suggested as responsible for this entity although the precise etiolog remains unknown. The diagnosis is based on CT or MRI imaging and generally confirmed by surgical biopsies. Treatment is individualized and empiric and depends on disease stage and symptoms. We report a case of a 35-year-old male who was admitted to our hospital with a history of abdominal pain, constipation and a palpable mass in the left lower quadrant. Abdominal CT scan showed diffuse thickening of the descending and rectosigmoid colon, associated with increased density of the mesenteric fat. After failure ofan initial treat- ment with glucocorticoids, he underwent a laparoscopic sigmoidectomy. Histopatholog analysis revealed extensive stea- tonecrosis ofpericolonicfat and lipid-ladenfoamy cells which was consistent with the diagnosis of mesenteric lipodystrophy. Clinical presentation and treatment as well as a brief review of the literature are discussed.

[Gastrointestinal bleeding and intestinal perforation due to polyarteritis nodosa in a patient with celiac disease. A case report]. / Hemorragia digestiva y perforación intestinal secundarias a panarteritis nodosa en un paciente con enfermedad celiaca. Presentación de un caso.

Complications of celiac disease could present with intestinal perforation and rarely, gastrointestinal bleeding, which are usually secondary to nongranulomatous ulcerative jejunoileitis or T-cell lymphoma. We describe the case of a 66-year-old male patient with an 8-year history of celiac disease (CD) who presented with recurrent abdominal pain and gastrointestinal bleeding. Several tests were performed to find out possible complications associated to CD. Due to an overt gastrointestinal bleeding, an arteriography was performed and signs of polyarteritis nodosa were found. Vascular disease was aggressive, and despite multiple medical and surgical treatments the patient died. As arteriography is not usually performed for the study of the complications of CD, it is possible that the association between CD and PAN has been underdiagnosed.

[Hereditary diffuse gastric cancer (HDGC): presentation of a family with a new mutation of the CDH1 gene]. / Cáncer gástrico difuso hereditario (CGDH): presentación de una familia con una nueva mutación del gen CDH1.

INTRODUCTION: HDGC is a hereditary cancer syndrome with an autosomic dominant pattern. It may be clinically diagnosed by family background, and confirmed by genetic testing. In 40% of the families, a mutation in the CDH1 gene (E-cadherin) can be identified. Furthermore, the identification of the pathogenic mutation enables the segregate non-carriers (having population risk) and carriers. Prevention for the latter group includes prophylactic gastrectomy or surveillance endoscopy every 6 to 12 months. OBJECTIVE: to present the case of an HDGC family with identified CDH1 mutation. CASE: 28 year-old woman who underwent gastrectomy for a diffuse type gastric cancer. Her family background showed multiple gastric cancers with inherited autosomal-dominant pattern (affectation of 9 members in 5 generations). Suspecting HDGC, a plan of surveillance endoscopy was iniciated, and a her DNA sample was sequenced for CDH1 gene finding a non-sense mutation in position 1913 G>A (W638X) of exon 12. CONCLUSION: the detailed recollection of the family background allowed to identify a rare inherited entity. The molecular testing confirmed the diagnosis and will allow future tailored counselling among relatives.

Cáncer gástrico difuso hereditario (CGDH): presentación de una familia con una nueva mutación del gen CDH1 / Hereditary diffuse gastric Cancer (HDGC): presentation of a family with a new mutation of the CDH1 GENE

Introducción: el CGDH se hereda en forma autosómica dominante. Su sospecha se basa en los antecedentes familiares y su confirmación requiere estudios moleculares. En el 40% de las familias se logra identificar una mutación en el gen CDH1 de la caderina- E que permite discriminar a los portadores y no portadores. La prevención para los portadores de la mutación incluye la gastrectomía profiláctica o la vigilancia endoscópica cada 6 a 12 meses. Objetivo: presentar el caso de una familia con CGDH portadora de una mutación en gen CDH1 no previamente reportada. Caso: mujer de 28 años, gastrectomizada por cáncer gástrico de tipo difuso con antecedentes familiares de cáncer gástrico que mostraba un patrón de herencia autosómico dominante (afectación de 9 miembros en 5 generaciones). Con sospecha de CGDH se comenzó un plan de vigilancia endoscópica y se analizó el ADN purificado de la sangre periférica de la paciente afectada mediante la secuenciación directa del gen CDH1, en la cual se dentificó una mutación sin sentido (non-sense) en la posición 1913 G>A (W638X) del exón 12. Conclusión: la recolección detallada de los antecedentes familiares permitió sospechar una entidad hereditaria muy poco frecuente. Los estudios moleculares confirmaron el diagnóstico, lo que posibilitará la estimación del riesgo individual en los familiares consanguíneos.(AU)

Introduction: HDGC is a hereditary cancer syndrome with an autosomic dominant pattern. It may be clinically diagnosed by family background, and confirmed by genetic testing. In 40% of the families, a mutation in the CDH1 gene (E-cadherin) can be identified. Furthermore, the identification of the pathogenic mutation enables the segregate non-carriers (having population risk) and carriers. Prevention for the latter group includes prophylactic gastrectomy or surveillance endoscopy every 6 to 12 months. Objective: to present the case of an HDGC family with identified CDH1 mutation. CASE: 28 yearold woman who underwent gastrectomy for a diffuse ype gastric cancer. Her family background showed multiple gastric cancers with inherited autosomaldominant pattern (affectation of 9 members in 5 generations). Suspecting HDGC, a plan of surveillance endoscopy was iniciated, and a her DNA sample was sequenced for CDH1 gene finding a non-sense mutation in position 1913 G>A (W638X) of exon 12. Conclusion: the detailed recollection of the family background allowed to identify a rare inherited entity. The molecular testing confirmed the diagnosis and will allow future tailored counselling among relatives.(AU)

Cáncer gástrico difuso hereditario (CGDH): presentación de una familia con una nueva mutación del gen CDH1 / Hereditary diffuse gastric Cancer (HDGC): presentation of a family with a new mutation of the CDH1 GENE

Introducción: el CGDH se hereda en forma autosómica dominante. Su sospecha se basa en los antecedentes familiares y su confirmación requiere estudios moleculares. En el 40% de las familias se logra identificar una mutación en el gen CDH1 de la caderina- E que permite discriminar a los portadores y no portadores. La prevención para los portadores de la mutación incluye la gastrectomía profiláctica o la vigilancia endoscópica cada 6 a 12 meses. Objetivo: presentar el caso de una familia con CGDH portadora de una mutación en gen CDH1 no previamente reportada. Caso: mujer de 28 años, gastrectomizada por cáncer gástrico de tipo difuso con antecedentes familiares de cáncer gástrico que mostraba un patrón de herencia autosómico dominante (afectación de 9 miembros en 5 generaciones). Con sospecha de CGDH se comenzó un plan de vigilancia endoscópica y se analizó el ADN purificado de la sangre periférica de la paciente afectada mediante la secuenciación directa del gen CDH1, en la cual se dentificó una mutación sin sentido (non-sense) en la posición 1913 G>A (W638X) del exón 12. Conclusión: la recolección detallada de los antecedentes familiares permitió sospechar una entidad hereditaria muy poco frecuente. Los estudios moleculares confirmaron el diagnóstico, lo que posibilitará la estimación del riesgo individual en los familiares consanguíneos.

Introduction: HDGC is a hereditary cancer syndrome with an autosomic dominant pattern. It may be clinically diagnosed by family background, and confirmed by genetic testing. In 40% of the families, a mutation in the CDH1 gene (E-cadherin) can be identified. Furthermore, the identification of the pathogenic mutation enables the segregate non-carriers (having population risk) and carriers. Prevention for the latter group includes prophylactic gastrectomy or surveillance endoscopy every 6 to 12 months. Objective: to present the case of an HDGC family with identified CDH1 mutation. CASE: 28 yearold woman who underwent gastrectomy for a diffuse ype gastric cancer. Her family background showed multiple gastric cancers with inherited autosomaldominant pattern (affectation of 9 members in 5 generations). Suspecting HDGC, a plan of surveillance endoscopy was iniciated, and a her DNA sample was sequenced for CDH1 gene finding a non-sense mutation in position 1913 G>A (W638X) of exon 12. Conclusion: the detailed recollection of the family background allowed to identify a rare inherited entity. The molecular testing confirmed the diagnosis and will allow future tailored counselling among relatives.