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A 10-year delayed diagnosis of blue rubber bleb nevus syndrome characterized by refractory iron-deficiency anemia: A case report and literature review.

Abstract Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder consisting of multifocal venous malformations. Delayed diagnosis or misdiagnosis frequently occurs in patients without typical cutaneous lesions or gastrointestinal bleeding symptoms. This article reports a 10-year case of delayed diagnosis of BRBNS detected by capsule endoscopy.
PMID
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Authors

Mayor MeshTerms

Delayed Diagnosis

Keywords
Journal Title medicine
Publication Year Start




PMID- 29851802
OWN - NLM
STAT- MEDLINE
DCOM- 20180606
LR  - 20180606
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 97
IP  - 22
DP  - 2018 Jun
TI  - A 10-year delayed diagnosis of blue rubber bleb nevus syndrome characterized by
      refractory iron-deficiency anemia: A case report and literature review.
PG  - e10873
LID - 10.1097/MD.0000000000010873 [doi]
AB  - RATIONALE: Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder
      consisting of multifocal venous malformations. Delayed diagnosis or misdiagnosis 
      frequently occurs in patients without typical cutaneous lesions or
      gastrointestinal bleeding symptoms. This article reports a 10-year case of
      delayed diagnosis of BRBNS detected by capsule endoscopy. PATIENT CONCERNS AND
      DIAGNOSIS: A 15-year-old girl presented with refractory iron-deficiency anemia
      (IDA) for 10 years, without any hemorrhagic signs or noticeable cutaneous
      lesions, which led to her obvious physical growth retardation. Capsule endoscopic
      examination revealed dozens of vascular blebs distributed from the jejunum to the
      ileum and a site of active bleeding. Hence, she was diagnosed with BRBNS.
      INTERVENTIONS: Laparotomy was performed with resection of the small bowel
      lesions, and iron supplementation was prescribed for 3 months. Postoperatively,
      the patient had an uncomplicated course. OUTCOMES: On follow-up after 3 years,
      IDA in this patient was cured and she did not require further blood transfusion
      and showed excellent vigor. LESSONS: A high index of suspicion for BRBNS and
      adequate endoscopy examination will help to identify the origin of refractory IDA
      in older children, particularly in patients with vascular lesions of the skin.
FAU - Tang, Xue
AU  - Tang X
AD  - Department of Pediatrics, West China Second University Hospital.
AD  - Key Laboratory of Birth Defects and Related Diseases of Women and Children,
      Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
FAU - Gao, Ju
AU  - Gao J
AD  - Department of Pediatrics, West China Second University Hospital.
AD  - Key Laboratory of Birth Defects and Related Diseases of Women and Children,
      Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
FAU - Yang, Xue
AU  - Yang X
AD  - Department of Pediatrics, West China Second University Hospital.
AD  - Key Laboratory of Birth Defects and Related Diseases of Women and Children,
      Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
FAU - Guo, Xia
AU  - Guo X
AD  - Department of Pediatrics, West China Second University Hospital.
AD  - Key Laboratory of Birth Defects and Related Diseases of Women and Children,
      Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - Blue rubber bleb nevus syndrome
SB  - AIM
SB  - IM
MH  - Adolescent
MH  - Anemia, Iron-Deficiency/*diagnosis/etiology
MH  - *Delayed Diagnosis
MH  - Female
MH  - Gastrointestinal Neoplasms/complications/*diagnosis
MH  - Humans
MH  - Nevus, Blue/complications/*diagnosis
MH  - Skin Neoplasms/complications/*diagnosis
EDAT- 2018/06/01 06:00
MHDA- 2018/06/07 06:00
CRDT- 2018/06/01 06:00
PHST- 2018/06/01 06:00 [entrez]
PHST- 2018/06/01 06:00 [pubmed]
PHST- 2018/06/07 06:00 [medline]
AID - 10.1097/MD.0000000000010873 [doi]
AID - 00005792-201806010-00030 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2018 Jun;97(22):e10873. doi: 10.1097/MD.0000000000010873.