Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome

Giampiero Beluffi, Piero Romano, Chiara Matteotti, Silvio Minniti, Franco Ceffa, Patrizia Morbini

Research output: Contribution to journalArticle

Abstract

Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend to bleed and lead to anaemia. Infrequent complications of the gastrointestinal malformations are volvulus, intestinal infarction and intussusception. The age of the patient and the jejunal intussusception precipitated by a vascular malformation containing calcifications (which were also found in different gut segments) make this case remarkable.

Original languageEnglish
Pages (from-to)742-745
Number of pages4
JournalPediatric Radiology
Volume34
Issue number9
DOIs
Publication statusPublished - Sep 2004

Fingerprint

Intussusception
Intestinal Volvulus
Chromosomes, Human, Pair 9
Vascular Malformations
Infarction
Anemia
Skin
Mutation
Genes
Blue rubber bleb nevus syndrome

Keywords

  • Blue rubber bleb nevus syndrome
  • Child
  • Gastrointestinal
  • Intussusception
  • Small-bowel

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

Cite this

Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome. / Beluffi, Giampiero; Romano, Piero; Matteotti, Chiara; Minniti, Silvio; Ceffa, Franco; Morbini, Patrizia.

In: Pediatric Radiology, Vol. 34, No. 9, 09.2004, p. 742-745.

Research output: Contribution to journalArticle

Beluffi, Giampiero ; Romano, Piero ; Matteotti, Chiara ; Minniti, Silvio ; Ceffa, Franco ; Morbini, Patrizia. / Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome. In: Pediatric Radiology. 2004 ; Vol. 34, No. 9. pp. 742-745.
@article{0bab86d8650f439092b466280010c8a9,
title = "Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome",
abstract = "Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend to bleed and lead to anaemia. Infrequent complications of the gastrointestinal malformations are volvulus, intestinal infarction and intussusception. The age of the patient and the jejunal intussusception precipitated by a vascular malformation containing calcifications (which were also found in different gut segments) make this case remarkable.",
keywords = "Blue rubber bleb nevus syndrome, Child, Gastrointestinal, Intussusception, Small-bowel",
author = "Giampiero Beluffi and Piero Romano and Chiara Matteotti and Silvio Minniti and Franco Ceffa and Patrizia Morbini",
year = "2004",
month = "9",
doi = "10.1007/s00247-004-1187-7",
language = "English",
volume = "34",
pages = "742--745",
journal = "Pediatric Radiology",
issn = "0301-0449",
publisher = "Springer Verlag",
number = "9",

}

TY - JOUR

T1 - Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome

AU - Beluffi, Giampiero

AU - Romano, Piero

AU - Matteotti, Chiara

AU - Minniti, Silvio

AU - Ceffa, Franco

AU - Morbini, Patrizia

PY - 2004/9

Y1 - 2004/9

N2 - Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend to bleed and lead to anaemia. Infrequent complications of the gastrointestinal malformations are volvulus, intestinal infarction and intussusception. The age of the patient and the jejunal intussusception precipitated by a vascular malformation containing calcifications (which were also found in different gut segments) make this case remarkable.

AB - Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend to bleed and lead to anaemia. Infrequent complications of the gastrointestinal malformations are volvulus, intestinal infarction and intussusception. The age of the patient and the jejunal intussusception precipitated by a vascular malformation containing calcifications (which were also found in different gut segments) make this case remarkable.

KW - Blue rubber bleb nevus syndrome

KW - Child

KW - Gastrointestinal

KW - Intussusception

KW - Small-bowel

UR - http://www.scopus.com/inward/record.url?scp=4544249623&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=4544249623&partnerID=8YFLogxK

U2 - 10.1007/s00247-004-1187-7

DO - 10.1007/s00247-004-1187-7

M3 - Article

C2 - 15105976

AN - SCOPUS:4544249623

VL - 34

SP - 742

EP - 745

JO - Pediatric Radiology

JF - Pediatric Radiology

SN - 0301-0449

IS - 9

ER -