Familial jejuno-ileal diverticulitis: A case report and review of the literature

Jeffrey S. Barton, Amit B. Karmur, Jennifer F. Preston, Brett Sheppard

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

INTRODUCTION Jejuno-ileal diverticulitis (JID) is a rare entity, presenting with symptoms of failure to thrive, abdominal pain, obstruction, bleeding, and acute or chronic perforation with associated pneumoperitoneum. Currently no specific genetic abnormality has been identified that leads to JID. Treatment is based on control of symptoms associated with the disease.

PRESENTATION OF CASE We describe a familial cohort of patients with JID, with associated symptoms of chronic pneumoperitoneum, including a proposed genetic inheritance pattern and pedigree. In addition, we will describe the operative treatment of one family member's JID and chronic pneumoperitoneum. DISCUSSION While JID is rare, this familial cohort demonstrates a pattern of inheritance most consistent with autosomal dominance. The pathology demonstrates true diverticula, unlike most previous descriptions of JID. The index patient was successfully treated by minimally invasive surgery.

CONCLUSION Familial JID is a rare entity, without an identified genetic abnormality. Treatment of chronic symptoms currently focuses on non-operative management. While most case reports involve individual patients, this cohort may possess a genetic mutation with an autosomal dominant pattern of inheritance. Further study into patients with JID may reveal an underlying genetic abnormality associated with development of the disease.

Original languageEnglish (US)
Pages (from-to)1038-1040
Number of pages3
JournalInternational Journal of Surgery Case Reports
Volume5
Issue number12
DOIs
StatePublished - Nov 1 2014

Fingerprint

Diverticulitis
Inheritance Patterns
Pneumoperitoneum
Failure to Thrive
Minimally Invasive Surgical Procedures
Diverticulum
Pedigree
Abdominal Pain
Therapeutics
Pathology
Hemorrhage
Mutation

Keywords

  • Chronic pneumoperitoneum
  • Familial
  • Jejuno-ileal diverticulitis

ASJC Scopus subject areas

  • Surgery

Cite this

Familial jejuno-ileal diverticulitis : A case report and review of the literature. / Barton, Jeffrey S.; Karmur, Amit B.; Preston, Jennifer F.; Sheppard, Brett.

In: International Journal of Surgery Case Reports, Vol. 5, No. 12, 01.11.2014, p. 1038-1040.

Research output: Contribution to journalArticle

Barton, Jeffrey S. ; Karmur, Amit B. ; Preston, Jennifer F. ; Sheppard, Brett. / Familial jejuno-ileal diverticulitis : A case report and review of the literature. In: International Journal of Surgery Case Reports. 2014 ; Vol. 5, No. 12. pp. 1038-1040.
@article{5a05f12911e14a12be67cf073bcdf0b6,
title = "Familial jejuno-ileal diverticulitis: A case report and review of the literature",
abstract = "INTRODUCTION Jejuno-ileal diverticulitis (JID) is a rare entity, presenting with symptoms of failure to thrive, abdominal pain, obstruction, bleeding, and acute or chronic perforation with associated pneumoperitoneum. Currently no specific genetic abnormality has been identified that leads to JID. Treatment is based on control of symptoms associated with the disease.PRESENTATION OF CASE We describe a familial cohort of patients with JID, with associated symptoms of chronic pneumoperitoneum, including a proposed genetic inheritance pattern and pedigree. In addition, we will describe the operative treatment of one family member's JID and chronic pneumoperitoneum. DISCUSSION While JID is rare, this familial cohort demonstrates a pattern of inheritance most consistent with autosomal dominance. The pathology demonstrates true diverticula, unlike most previous descriptions of JID. The index patient was successfully treated by minimally invasive surgery.CONCLUSION Familial JID is a rare entity, without an identified genetic abnormality. Treatment of chronic symptoms currently focuses on non-operative management. While most case reports involve individual patients, this cohort may possess a genetic mutation with an autosomal dominant pattern of inheritance. Further study into patients with JID may reveal an underlying genetic abnormality associated with development of the disease.",
keywords = "Chronic pneumoperitoneum, Familial, Jejuno-ileal diverticulitis",
author = "Barton, {Jeffrey S.} and Karmur, {Amit B.} and Preston, {Jennifer F.} and Brett Sheppard",
year = "2014",
month = "11",
day = "1",
doi = "10.1016/j.ijscr.2014.10.084",
language = "English (US)",
volume = "5",
pages = "1038--1040",
journal = "International Journal of Surgery Case Reports",
issn = "2210-2612",
publisher = "Elsevier BV",
number = "12",

}

TY - JOUR

T1 - Familial jejuno-ileal diverticulitis

T2 - A case report and review of the literature

AU - Barton, Jeffrey S.

AU - Karmur, Amit B.

AU - Preston, Jennifer F.

AU - Sheppard, Brett

PY - 2014/11/1

Y1 - 2014/11/1

N2 - INTRODUCTION Jejuno-ileal diverticulitis (JID) is a rare entity, presenting with symptoms of failure to thrive, abdominal pain, obstruction, bleeding, and acute or chronic perforation with associated pneumoperitoneum. Currently no specific genetic abnormality has been identified that leads to JID. Treatment is based on control of symptoms associated with the disease.PRESENTATION OF CASE We describe a familial cohort of patients with JID, with associated symptoms of chronic pneumoperitoneum, including a proposed genetic inheritance pattern and pedigree. In addition, we will describe the operative treatment of one family member's JID and chronic pneumoperitoneum. DISCUSSION While JID is rare, this familial cohort demonstrates a pattern of inheritance most consistent with autosomal dominance. The pathology demonstrates true diverticula, unlike most previous descriptions of JID. The index patient was successfully treated by minimally invasive surgery.CONCLUSION Familial JID is a rare entity, without an identified genetic abnormality. Treatment of chronic symptoms currently focuses on non-operative management. While most case reports involve individual patients, this cohort may possess a genetic mutation with an autosomal dominant pattern of inheritance. Further study into patients with JID may reveal an underlying genetic abnormality associated with development of the disease.

AB - INTRODUCTION Jejuno-ileal diverticulitis (JID) is a rare entity, presenting with symptoms of failure to thrive, abdominal pain, obstruction, bleeding, and acute or chronic perforation with associated pneumoperitoneum. Currently no specific genetic abnormality has been identified that leads to JID. Treatment is based on control of symptoms associated with the disease.PRESENTATION OF CASE We describe a familial cohort of patients with JID, with associated symptoms of chronic pneumoperitoneum, including a proposed genetic inheritance pattern and pedigree. In addition, we will describe the operative treatment of one family member's JID and chronic pneumoperitoneum. DISCUSSION While JID is rare, this familial cohort demonstrates a pattern of inheritance most consistent with autosomal dominance. The pathology demonstrates true diverticula, unlike most previous descriptions of JID. The index patient was successfully treated by minimally invasive surgery.CONCLUSION Familial JID is a rare entity, without an identified genetic abnormality. Treatment of chronic symptoms currently focuses on non-operative management. While most case reports involve individual patients, this cohort may possess a genetic mutation with an autosomal dominant pattern of inheritance. Further study into patients with JID may reveal an underlying genetic abnormality associated with development of the disease.

KW - Chronic pneumoperitoneum

KW - Familial

KW - Jejuno-ileal diverticulitis

UR - http://www.scopus.com/inward/record.url?scp=84910678826&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84910678826&partnerID=8YFLogxK

U2 - 10.1016/j.ijscr.2014.10.084

DO - 10.1016/j.ijscr.2014.10.084

M3 - Article

AN - SCOPUS:84910678826

VL - 5

SP - 1038

EP - 1040

JO - International Journal of Surgery Case Reports

JF - International Journal of Surgery Case Reports

SN - 2210-2612

IS - 12

ER -