BibTex RIS Cite

-

Year 2015, Volume: 1 Issue: 1, 5 - 7, 13.05.2015

D Köse , D Arslan H Yüksekkaya Y Köksal

Abstract

NF-1 that is a type of neurofibromatosis (NF) frequently encountered in children. It is autosomal dominant and primarily affects the growth of neural tissue cells. Celiac disease (CD) is an autoimmune disorder in which a permanent intolerance to gluten is acquired after initial exposures to gluten containing products. A 6 year old female presented complaining of spots on her skin. On physical examination, ten café au lait spots (CAL) on her skin throughout her body, and bilateral axillary freckles were identified. Lisch nodules were identified on ophthalmic examination,; hamartomatous structures were identified in MRI scans of her brain. The patient’s anti-gliadin panel and anti-endomysium antibody A test results were positive (+++). Endoscopic biopsy was performed and the specimens were determined to have mucosal degeneration with a stage IV MARSH score. The patient was then diagnosed with CD and NF. As far as we know, there are no reports in the literature of Celiac’s Disease and Neurofibromatosis occurring together in a child, and this is the first reported case

Keywords

-

References

  • Braun-Falco O, Plewig G, Wolff HH, Burgdorf WHC. Dermatology. 2nd ed. Berlin: Springer, 2000;840-4.
  • Crawford AH. Neurofibromatosis. In: Weinstein SL, ed. The pediatric spine, principles and practice. 2nd ed. Philadelphia: Lippincott Williams & Wilkins, 2001;471–90.
  • Roy CC, Silverman A, Alagille D. Pediatric clinical gastroenterology. 4th ed. Missouri: Mosby-Year Book, 1995;299-361.
  • Green PH, Cellier C. Celiac disease. N Engl J Med. 2007;357(17):1731-1743.
  • Ferner RE. Neurofibromatosis 1. Eur J Hum Genet. 2007;15(2):131-138.
  • Robbins SL, Kumar V. Basic pathology of the mediastinum tumors. 4th ed. Washington: WB Saunders Company, 1987;910-6.
  • Rutgeerts P, Hendrickx H, Geboes K, Ponette E, Broeckaert L, Vantrappen G. Involvement of the upper digestive tract by systemic neurofibromatosis. Gastrointest Endosc. 1981;27(1):22-25.
  • Högenauer C, Hammer HF. Maldigestion and malabsorption. In: Feldman M, ed. Sleisenger & Fordtran’s Gastrointestinal and Liver Disease. 7th ed. Philadelphia: Saunders, 2002;1751-82.
  • Tatemichi M, Nagata H, Morinaga S, Kaneda S. Protein-losing enteropathy caused by mesenteric vascular involvement of neurofibromatosis. Dig Dis Sci. 1993;38(8):1549-1553.
  • Wormsley KG, Logan WF, Sorrell VF, Cole GC. Neurofibromatosis with pancreatic duct obstruction and steatorrhoea. Postgrad Med J. 1967;43(500):432-435.
  • Packer RJ. Neurocognitive deficits in children with neurofibromatosis type 1. Curr Neurol Neurosci Rep. 2006;6(2):119-120.
  • Maki M, Lohi O. Celiac Disease. In: Walker WA, ed. Pediatric Gastrointestinal Disease. 4th ed. Ontario: B.C.Decker, 2004;932-943.
  • Catassi C, Fasano A. New Developments in Childhood Celiac Di¬sease. Curr Gastroenterol Rep. 2002;4(3):238-243.
  • Biagi F, Campanella J, Alvisi C, Versino M, Corazza GR. Unusual association of neurofibromatosis type 1 and coeliac disease in a single patient. Funct Neurol. 2005;20(1):33-34.
  • Holtmeier W, Caspary WF. Celiac disease. Orphanet J Rare Dis. 2006;1:3.
  • Toftedal P, Hansen DG, Nielsen C, Lillevang ST, Hansen TP, Husby S. Questionnaire-based case finding of celiac disease in a population of 8- to 9-year-old children. Pediatrics. 2010;125(3):518-524.
  • Goddard CJ, Gilette HR. Complications of celiac disease: are all patients at risk? Postgrad Med J. 2006;82(973):705-712.

BİR ÇOCUK HASTADA NÖROFİBROMATOZİS VE ÇÖLYAK HASTALIĞI

Year 2015, Volume: 1 Issue: 1, 5 - 7, 13.05.2015

D Köse , D Arslan H Yüksekkaya Y Köksal

Abstract

Nörofibromatozisin (NF) daha çok çocuklarda görülen tipi olan NF-1; otozomal dominant geçen ve primer olarak nöral dokunun hücresel büyümesini etkileyen bir hastalıktır. Çölyak hastalığı (ÇH) ise; gluten içeren gıdalarla tetiklenen ve glutene karşı kalıcı bir intoleransın geliştiği otoimmün bir hastalıktır. Yaklaşık 6,5 yaşındaki kız hasta, cildindeki lekeler nedeniyle getirildi. Muayenesinde; cildinde en büyüğü 8x4,5 cm olan on adet cafe au lait lekelesi (CAL) ile bilateral aksiller çillenme tespit edildi. Oftalmik muayenesinde; iriste Lisch nodülleri, beyin manyetik rezonans görüntülemesinde (MRG) ise; hamartomatöz yapılar vardı. Yaklaşık 1,5 yıl sonra başlayan karın ağrısı nedeniyle yapılan tetkiklerinde; anti gliadin paneli; pozitif ve anti endomisyum antikoru A; pozitif (+++) olarak saptandı. Endoskopik biyopsi materyalinin değerlendirmesiyle mukozada MARSH skoru stage IV olan bir dejenerasyon saptandı. Bunun üzerine hasta ÇH ve NF tanıları ile takibe alındı. Bu yazıda NF-1 ve ÇH’yi birlikte taşıyan bir çocuk vaka sunulmuştur ki bizim bilgilerimize göre bu vaka; literatürde rapor edilen ilk çocuk vakadır.

Keywords

Çocuk Çölyak Nörofibromatozis

References

  • Braun-Falco O, Plewig G, Wolff HH, Burgdorf WHC. Dermatology. 2nd ed. Berlin: Springer, 2000;840-4.
  • Crawford AH. Neurofibromatosis. In: Weinstein SL, ed. The pediatric spine, principles and practice. 2nd ed. Philadelphia: Lippincott Williams & Wilkins, 2001;471–90.
  • Roy CC, Silverman A, Alagille D. Pediatric clinical gastroenterology. 4th ed. Missouri: Mosby-Year Book, 1995;299-361.
  • Green PH, Cellier C. Celiac disease. N Engl J Med. 2007;357(17):1731-1743.
  • Ferner RE. Neurofibromatosis 1. Eur J Hum Genet. 2007;15(2):131-138.
  • Robbins SL, Kumar V. Basic pathology of the mediastinum tumors. 4th ed. Washington: WB Saunders Company, 1987;910-6.
  • Rutgeerts P, Hendrickx H, Geboes K, Ponette E, Broeckaert L, Vantrappen G. Involvement of the upper digestive tract by systemic neurofibromatosis. Gastrointest Endosc. 1981;27(1):22-25.
  • Högenauer C, Hammer HF. Maldigestion and malabsorption. In: Feldman M, ed. Sleisenger & Fordtran’s Gastrointestinal and Liver Disease. 7th ed. Philadelphia: Saunders, 2002;1751-82.
  • Tatemichi M, Nagata H, Morinaga S, Kaneda S. Protein-losing enteropathy caused by mesenteric vascular involvement of neurofibromatosis. Dig Dis Sci. 1993;38(8):1549-1553.
  • Wormsley KG, Logan WF, Sorrell VF, Cole GC. Neurofibromatosis with pancreatic duct obstruction and steatorrhoea. Postgrad Med J. 1967;43(500):432-435.
  • Packer RJ. Neurocognitive deficits in children with neurofibromatosis type 1. Curr Neurol Neurosci Rep. 2006;6(2):119-120.
  • Maki M, Lohi O. Celiac Disease. In: Walker WA, ed. Pediatric Gastrointestinal Disease. 4th ed. Ontario: B.C.Decker, 2004;932-943.
  • Catassi C, Fasano A. New Developments in Childhood Celiac Di¬sease. Curr Gastroenterol Rep. 2002;4(3):238-243.
  • Biagi F, Campanella J, Alvisi C, Versino M, Corazza GR. Unusual association of neurofibromatosis type 1 and coeliac disease in a single patient. Funct Neurol. 2005;20(1):33-34.
  • Holtmeier W, Caspary WF. Celiac disease. Orphanet J Rare Dis. 2006;1:3.
  • Toftedal P, Hansen DG, Nielsen C, Lillevang ST, Hansen TP, Husby S. Questionnaire-based case finding of celiac disease in a population of 8- to 9-year-old children. Pediatrics. 2010;125(3):518-524.
  • Goddard CJ, Gilette HR. Complications of celiac disease: are all patients at risk? Postgrad Med J. 2006;82(973):705-712.
There are 17 citations in total.

Details

Primary Language Turkish
Journal Section Makaleler
Authors

D Köse

D Arslan This is me

H Yüksekkaya This is me

Y Köksal This is me

Publication Date May 13, 2015
Published in Issue Year 2015 Volume: 1 Issue: 1

Cite

APA Köse, D., Arslan, D., Yüksekkaya, H., Köksal, Y. (2015). BİR ÇOCUK HASTADA NÖROFİBROMATOZİS VE ÇÖLYAK HASTALIĞI. İbni Sina Tıp Bilimleri Dergisi, 1(1), 5-7.
AMA Köse D, Arslan D, Yüksekkaya H, Köksal Y. BİR ÇOCUK HASTADA NÖROFİBROMATOZİS VE ÇÖLYAK HASTALIĞI. İbni Sina Tıp Bilimleri Dergisi. May 2015;1(1):5-7.
Chicago Köse, D, D Arslan, H Yüksekkaya, and Y Köksal. “BİR ÇOCUK HASTADA NÖROFİBROMATOZİS VE ÇÖLYAK HASTALIĞI”. İbni Sina Tıp Bilimleri Dergisi 1, no. 1 (May 2015): 5-7.
EndNote Köse D, Arslan D, Yüksekkaya H, Köksal Y (May 1, 2015) BİR ÇOCUK HASTADA NÖROFİBROMATOZİS VE ÇÖLYAK HASTALIĞI. İbni Sina Tıp Bilimleri Dergisi 1 1 5–7.
IEEE D. Köse, D. Arslan, H. Yüksekkaya, and Y. Köksal, “BİR ÇOCUK HASTADA NÖROFİBROMATOZİS VE ÇÖLYAK HASTALIĞI”, İbni Sina Tıp Bilimleri Dergisi, vol. 1, no. 1, pp. 5–7, 2015.
ISNAD Köse, D et al. “BİR ÇOCUK HASTADA NÖROFİBROMATOZİS VE ÇÖLYAK HASTALIĞI”. İbni Sina Tıp Bilimleri Dergisi 1/1 (May 2015), 5-7.
JAMA Köse D, Arslan D, Yüksekkaya H, Köksal Y. BİR ÇOCUK HASTADA NÖROFİBROMATOZİS VE ÇÖLYAK HASTALIĞI. İbni Sina Tıp Bilimleri Dergisi. 2015;1:5–7.
MLA Köse, D et al. “BİR ÇOCUK HASTADA NÖROFİBROMATOZİS VE ÇÖLYAK HASTALIĞI”. İbni Sina Tıp Bilimleri Dergisi, vol. 1, no. 1, 2015, pp. 5-7.
Vancouver Köse D, Arslan D, Yüksekkaya H, Köksal Y. BİR ÇOCUK HASTADA NÖROFİBROMATOZİS VE ÇÖLYAK HASTALIĞI. İbni Sina Tıp Bilimleri Dergisi. 2015;1(1):5-7.