Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome.
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.
Beluffi
Giampiero
G
Section of Paediatric Radiology, Department of Radiodiagnosis, IRCCS Policlinico S. Matteo, Piazzale Golgi, 2, Pavia PV, Italy. g.beluffi@smatteo.pv.it
Romano
Piero
P
Matteotti
Chiara
C
Minniti
Silvio
S
Ceffa
Franco
F
Morbini
Patrizia
P
D002648:Child; D003952:Diagnostic Imaging; D006801:Humans; D007443:Intussusception / Q000175:diagnosis* / Q000209:etiology*; D007579:Jejunal Diseases / Q000175:diagnosis* / Q000209:etiology*; D008297:Male; D018329:Nevus, Blue / Q000150:complications*; D012878:Skin Neoplasms / Q000150:complications*; D013577:Syndrome