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J Pediatr Genet 2019; 08(01): 020-023
DOI: 10.1055/s-0038-1669385
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Two-Month-Old Child with Vascular Ectasia: A Case Report Diagnosed by Molecular Karyotyping

Ozlem Tolu Kendir
1   Department of Pediatrics, Çukurova Üniversity, Balcali Hospital, Adana, Turkey
,
Hayri Levent Yilmaz
1   Department of Pediatrics, Çukurova Üniversity, Balcali Hospital, Adana, Turkey
,
Sevcan Bozdogan
2   AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey
3   Medical Genetics Department of Balcali Clinics and Hospital, Cukurova University Faculty of Medicine, Adana, Turkey
,
Atıl Bisgin
2   AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey
3   Medical Genetics Department of Balcali Clinics and Hospital, Cukurova University Faculty of Medicine, Adana, Turkey
,
Tugçe Celik
1   Department of Pediatrics, Çukurova Üniversity, Balcali Hospital, Adana, Turkey
,
Ozgur Surmelioglu
4   Department of Otorhinolaryngology, Çukurova Üniversity, Balcali Hospital, Adana, Turkey
,
Figen Doran
5   Department of Pathology, Çukurova Üniversity, Balcali Hospital, Adana, Turkey
› Author Affiliations
Further Information

Publication History

19 April 2018

18 July 2018

Publication Date:
22 August 2018 (online)

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Abstract

Gastrointestinal angiodysplasia can be encountered in cases with aortic stenosis, inflammatory gastrointestinal conditions, von Willebrand disease or vascular damage, and degenerative changes. Predisposing factors have been described in four adults with vascular ectasia located in the stomach, duodenum, and the distal esophagus. Here, we report a 2-month-old infant with vascular ectasia in the proximal esophagus and diagnosed by molecular karyotyping. This is the first case of vascular ectasia in the proximal esophagus in a pediatric patient.

Keywords

angiodysplasia - vascular ectasia - duplication of chromosome 2 - molecular karyotyping

Compliance with Ethical Standards

Ethical Statement This article does not contain any studies with human or animal subjects performed by any of the authors.


Note

Authors have permission from the patient's parents.


 

  • References

  • 1 Pathology G. . Cecilia M. Fenoglio Ch 4; LWW.Com. 2009:219–220
    PubMed
  • 2 Foutch PG. Angiodysplasia of the gastrointestinal tract. Am J Gastroenterol 1993; 88 (06) 807-818
    PubMedGoogle Scholar
  • 3 Okano H, Shiraki K, Tsuneoka K. , et al. Esophageal vascular ectasia associated with Fabry's disease. Gastrointest Endosc 2001; 53 (01) 125-126
    CrossrefPubMedGoogle Scholar
  • 4 Khanna S, Arora AS, Topazian MD. Esophageal vascular ectasia. Endoscopy 2011; 43 (Suppl 2 UCTN): E281
    Article in Thieme ConnectPubMedGoogle Scholar
  • 5 Rosenfeld G, Enns R. Argon photocoagulation in the treatment of gastric antral vascular ectasia and radiation proctitis. Can J Gastroenterol 2009; 23 (12) 801-804
    CrossrefPubMedGoogle Scholar
  • 6 Feitoza AB, Gostout CJ, Burgart LJ, Burkert A, Herman LJ, Rajan E. Hydroxypropyl methylcellulose: a better submucosal fluid cushion for endoscopic mucosal resection. Gastrointest Endosc 2003; 57 (01) 41-47
    PubMedGoogle Scholar
  • 7 Liu F, Ji F, Jin X. , et al. Gastric antral vascular ectasia in two non-cirrhotic patients involved large area stomach: case report and literature review. J Interv Gastroenterol 2013; 3 (03) 107-110
    CrossrefPubMedGoogle Scholar
  • 8 Wang J, Stine JG, Cornella SL, Argo CK, Cohn SM. Patients with gastric antral vascular ectasia (GAVE) are at a higher risk of gastrointestinal bleeding in the absence of cirrhosis. J Clin Transl Hepatol 2015; 3 (04) 254-259
    PubMedGoogle Scholar
  • 9 Garg H, Gupta S, Anand AC, Broor SL. Portal hypertensive gastropathy and gastric antral vascular ectasia. Indian J Gastroenterol 2015; 34 (05) 351-358
    CrossrefPubMedGoogle Scholar
  • 10 Cordeiro de Azevedo Conejo F, Fracassi MTM, Assef MS, Ribeiro MA, Szutan LA, Ferreira FG. Elevated gastric antrum erosions in portal hypertension patients: peptic disease or mucosal congestion?. Korean J Gastroenterol 2017; 69 (05) 278-282
    CrossrefPubMedGoogle Scholar
  • 11 Gupta N, Goyal A, Singh PP, Sharma S. Isolated laryngeal lymphangioma: a rarity. Indian J Otolaryngol Head Neck Surg 2011; 63 (01) (Suppl. 01) 90-92
    CrossrefPubMedGoogle Scholar
  • 12 Moriones Robayo CA, Guerra Ortiz CP. Histoplasmosis laryngeal: report first case in Colombia. Colomb Med (Cali) 2014; 45 (04) 186-189
    PubMedGoogle Scholar
  • 13 Rossi MR, DiMaio MS, Xiang B. , et al. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature. Am J Med Genet A 2009; 149A (12) 2788-2794
    CrossrefPubMedGoogle Scholar
  • 14 Cuturilo G, Menten B, Krstic A. , et al. 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome. Eur J Pediatr 2011; 170 (11) 1465-1470
    CrossrefPubMedGoogle Scholar
  • 15 Atik T, Durmaz B, Yorganci OU, Cogulu O, Kioutsouk M, Ozkinay F. Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation. Genet Couns 2013; 24 (02) 179-184
    PubMedGoogle Scholar
  • 16 Manolakos E, Vetro A, Papadopoulou E. , et al. Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement. Cytogenet Genome Res 2013; 140 (01) 12-20
    CrossrefPubMedGoogle Scholar
  • 17 Martínez-Juárez A, Uribe-Figueroa L, Quintana-Palma M, Razo-Aguilera G, Sevilla-Montoya R. Pure trisomy 2p syndrome in two siblings with an unbalanced translocation and minimal terminal 12q monosomy characterized by high-density microarray. Cytogenet Genome Res 2014; 142 (04) 249-254
    CrossrefPubMedGoogle Scholar
  • 18 Tirado CA, Henderson S, Uddin N. , et al. Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter. Am J Med Genet A 2009; 149A (11) 2507-2512
    CrossrefPubMedGoogle Scholar
  • 19 Roggenbuck JA, Fink JM, Mendelsohn NJ. Unique case of trisomy 2p24.3-pter with no associated monosomy. Am J Med Genet 2001; 101 (01) 50-54
    CrossrefPubMedGoogle Scholar