Year 2020, Volume 4 , Issue 10, Pages 906 - 908 2020-10-01

Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy
İnfantil juvenil poliposis sendromu: Protein kaybettiren enteropatinin nadir bir nedeni

Didem GÜLCÜ [1] , Faruk BESER [2] , Nuray KEPİL [3] , Sibel ERDAMAR CETİN [4] , Fugen CULLU COKUGRAS [5] , Tulay ERKAN [6] , Tufan KUTLU [7]


Juvenile Polyposis Syndrome (JPS) is a rare autosomal dominant hereditary syndrome affecting 1:100000-160000 individuals. JPS most presents with rectal bleeding, anemia, abdominal pain, obstruction and rarely with rectal prolapsus of the polyp. In this case, we diagnosed Infantile Juvenile Polyposis Syndrome due to protein losing enteropathy, rectal bleeding and extraintestinal manifestations of the syndrome. A 2-year-old male infant was referred to the hospital due to complaints of painless rectal bleeding and rectal prolapsus of the polyp which occurred at 15 months of age. Pathological examination revealed that it was a juvenile polyp. After a short while, the patient was hospitalized due to rectal bleeding, paleness, swelling in both legs and periorbital edema. Physical examination of the patient revealed +3 pretibial, scrotal, periorbital edema, clubbing and pale appearance. The patient had macrocephaly, hypotonicity and neuromotor retardation. Laboratory test results revealed low immunoglobulin levels, hypoalbuminemia, anemia, and electrolyte imbalance. We diagnosed the case with JPS due to protein losing enteropathy with extraintestinal manifestations of the syndrome. Gastroscopic and colonoscopic examinations revealed multiple polyps through the antrum and colon. JPS diagnosis is based on the detection of polyps which are histopathologically defined as juvenile polyps. One of the most common causes of painless, rectal bleeding in children are colorectal polyps. We wanted to emphasize that the sporadic juvenile polyp diagnosis should be made by pathological examination of polypectomy material and clinical exclusion of JPS. In our patient, there were extraintestinal system manifestations such as macrocephaly, congenital heart disease and clubbing, accompanied with protein-losing enteropathy. Awareness of these clinical findings is necessary for the differential diagnosis of protein-losing enteropathy and polyposis syndrome. We would also like to draw attention to the importance of a multidisciplinary approach, early recognition of the syndrome and appropriate referral of the patient.
Juvenil Polipozis Sendromu (JPS), çok nadir görülen, otozomal dominant geçişli, 1/100000 ile 1/160000 insanı etkileyen, herediter bir sendromdur. JPS sıklıkla rektal kanama, anemi, karın ağrısı, tıkanma ve nadiren polipin rektal prolapsusu ile bulgu verir. Bu olgu ile protein kaybettiren enteropati, rektal kanama ve ekstraintestinal manifestasyonları olan hastamıza JPS tanısı koyduk. 2 yaş erkek hasta ağrısız rektal kanama nedeniyle hastaneye başvurdu. 15 aylık iken rektal polip prolapsusu olmuş ve bu polipin patolojik değerlendirmesi juvenil polip ile uyumlu imiş. Çok kısa süre sonra hasta rektal kanama, solukluk, ayaklarda şişlik ve göz çevresi ödem ile başvurdu. Fizik muayenesinde pretibial +3 ödem, skrotal ödem, göz çevresinde ödem, parmaklarda çomaklaşma ve soluk görünümü mevcut idi. Makrosefali, hipotoni ve nöromotor retardasyonu vardı. Laboratuvar testlerinde: immunglobulinler ve albumin düşük, anemisi mevcut ve elektrolit dengesizliği vardı. JPS tanısı protein kaybettiren enteropatiye eşlik eden ekstraintestinal system bulgularının varlığı ile konuldu. Yapılan gastroskopik ve kolonoskopik incelemesinde antrumdan başlayarak tüm kolon mukozası boyunca yaygın polipler mevcut idi. Histopatolojik incelemesi juvenil polip ile uyumlu idi. Çocuklarda ağrısız rektal kanamaların en sık nedeni kolorektal poliplerdir. Sporadik juvenil polip tanısı, patolojik olarak polipektomi materyalinin incelenmesi ve klinik olarak JPS’nun dışlanması ile konulmalıdır, bunu vurgulamak istedik. Bizim hastamızdaki gibi makrosefali, konjenital kalp hastalığı ve çomak parmak gibi ekstraintestinal bulguların farkındalığı ve protein kaybettiren enteropati ayırıcı tanısında polipozis sendromunun akılda tutulması gerektiğini vurgulamak istedik. Multidisipliner yaklaşım ile erken tanı prognozu iyileştirebilmektedir.
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Primary Language en
Subjects Gastroenterology and Hepatology
Journal Section Case report
Authors

Orcid: 0000-0002-2746-3799
Author: Didem GÜLCÜ (Primary Author)
Institution: Adana City Training and Research Hospital, Adana, Turkey.
Country: Turkey


Orcid: 0000-0003-1927-7256
Author: Faruk BESER
Institution: Pediatric Gastroenterology, Istanbul University, Cerrahpasa Medical Faculty, İstanbul, Turkey.
Country: Turkey


Orcid: 0000-0001-5494-6422
Author: Nuray KEPİL
Institution: Pathology, Istanbul University, Cerrahpasa Medical Faculty, İstanbul, Turkey.
Country: Turkey


Orcid: 0000-0001-7470-8835
Author: Sibel ERDAMAR CETİN
Institution: Pathology, Istanbul University, Cerrahpasa Medical Faculty, İstanbul, Turkey.
Country: Turkey


Orcid: 0000-0003-0886-1422
Author: Fugen CULLU COKUGRAS
Institution: Pediatric Gastroenterology, Istanbul University, Cerrahpasa Medical Faculty, İstanbul, Turkey.
Country: Turkey


Orcid: 0000-0002-8924-2799
Author: Tulay ERKAN
Institution: Pediatric Gastroenterology, Istanbul University, Cerrahpasa Medical Faculty, İstanbul, Turkey.
Country: Turkey


Orcid: 0000-0001-8396-4048
Author: Tufan KUTLU
Institution: Pediatric Gastroenterology, Istanbul University, Cerrahpasa Medical Faculty, İstanbul, Turkey.
Country: Turkey


Supporting Institution Herhangi bir destekleyici kurum yoktur.
Dates

Publication Date : October 1, 2020

Bibtex @case report { josam729936, journal = {Journal of Surgery and Medicine}, issn = {}, eissn = {2602-2079}, address = {jsurgmed@gmail.com}, publisher = {Fatih BAŞAK}, year = {2020}, volume = {4}, pages = {906 - 908}, doi = {10.28982/josam.729936}, title = {Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy}, key = {cite}, author = {Gülcü, Didem and Beser, Faruk and Kepi̇l, Nuray and Erdamar, Sibel and Cullu, Fugen and Erkan, Tulay and Kutlu, Tufan} }
APA Gülcü, D , Beser, F , Kepi̇l, N , Erdamar, S , Cullu, F , Erkan, T , Kutlu, T . (2020). Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy . Journal of Surgery and Medicine , 4 (10) , 906-908 . DOI: 10.28982/josam.729936
MLA Gülcü, D , Beser, F , Kepi̇l, N , Erdamar, S , Cullu, F , Erkan, T , Kutlu, T . "Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy" . Journal of Surgery and Medicine 4 (2020 ): 906-908 <http://jsurgmed.com/en/pub/issue/57049/729936>
Chicago Gülcü, D , Beser, F , Kepi̇l, N , Erdamar, S , Cullu, F , Erkan, T , Kutlu, T . "Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy". Journal of Surgery and Medicine 4 (2020 ): 906-908
RIS TY - JOUR T1 - Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy AU - Didem Gülcü , Faruk Beser , Nuray Kepi̇l , Sibel Erdamar , Fugen Cullu , Tulay Erkan , Tufan Kutlu Y1 - 2020 PY - 2020 N1 - doi: 10.28982/josam.729936 DO - 10.28982/josam.729936 T2 - Journal of Surgery and Medicine JF - Journal JO - JOR SP - 906 EP - 908 VL - 4 IS - 10 SN - -2602-2079 M3 - doi: 10.28982/josam.729936 UR - https://doi.org/10.28982/josam.729936 Y2 - 2020 ER -
EndNote %0 Journal of Surgery and Medicine Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy %A Didem Gülcü , Faruk Beser , Nuray Kepi̇l , Sibel Erdamar , Fugen Cullu , Tulay Erkan , Tufan Kutlu %T Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy %D 2020 %J Journal of Surgery and Medicine %P -2602-2079 %V 4 %N 10 %R doi: 10.28982/josam.729936 %U 10.28982/josam.729936
ISNAD Gülcü, Didem , Beser, Faruk , Kepi̇l, Nuray , Erdamar, Sibel , Cullu, Fugen , Erkan, Tulay , Kutlu, Tufan . "Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy". Journal of Surgery and Medicine 4 / 10 (October 2020): 906-908 . https://doi.org/10.28982/josam.729936
AMA Gülcü D , Beser F , Kepi̇l N , Erdamar S , Cullu F , Erkan T , Kutlu T . Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy. J Surg Med. 2020; 4(10): 906-908.
Vancouver Gülcü D , Beser F , Kepi̇l N , Erdamar S , Cullu F , Erkan T , Kutlu T . Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy. Journal of Surgery and Medicine. 2020; 4(10): 906-908.
IEEE D. Gülcü , F. Beser , N. Kepi̇l , S. Erdamar , F. Cullu , T. Erkan and T. Kutlu , "Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy", Journal of Surgery and Medicine, vol. 4, no. 10, pp. 906-908, Oct. 2020, doi:10.28982/josam.729936