Sitrülinemi Hastasında Meckel Divertikül Perforasyonu / Swallowing Meckel Diverticulum Perforation In A Citrulinnemia Patient

Yıl 2017, Cilt: 39 Sayı: 1, 86 - 89, 07.01.2017

Bartu Badak Nejdet Fatih Yaşar Enver İhtiyar

https://doi.org/10.20515/otd.288720

Öz

 

Özet: Sitrülinemi, argininosüksinik
asit sentetaz eksikliğinin neden olduğu üre siklus bozukluklarından birisidir.
Nadir görülür ve otozomal resesif geçişlidir. Kusma, karın ağrısı, beslenme
güçlüğü, uykuya eğilim, apne, hipotoni, stupor ve komaya kadar ilerleyebilen ve
ölümle sonuçlanabilen bir hastalıktır.

Meckel divertikülü;
omfalomezenterik kanalın kapanmamasından kaynaklanan gastrointestinal sistemin
en sık görülen konjenital anomalisidir. Nadir olarak radyolojik görüntüleme ve
laparotomi esnasında saptanabilmektedir. Sadece komplikasyon geliştiğinde bulgu
vermektedir. Biz burada sitrülinemi hastası olduğu bilinen meckel divertikül
perforasyonu olgusunu ele aldık.

Anahtar
Kelimeler: Sitrülinemi, Meckel
Divertikülü, Siklus

                                                           

 

Abstract:  Citrullinemia is one of the urea cycle disorders, caused by
argininosuccinic acid synthetase deficiency. It’s rarely seen and autonomic
recessive disorder. Citrullinemia presents a fatal course with vomiting,
stomachache, feding difficulty, lethargy, apnea, hypotonia, stupor and
coma. 

Meckel’s diverticulum
results from incomplete closure of the omphalomesenteric duct and is the most
common congenital anomaly of the gastrointestinal system. It could be found
rarely by radiodiagnostic investigations 
or during laparotomy. It can be symptomatic only when a complication
develops.  We report a citrullinemia
patient with meckel diverticulum perforation.

Keywords: Citrullinnemia, Meckel
Diverticulum, Cyclus

 

Anahtar Kelimeler

Sitrülinemi, Meckel Divertikülü

Kaynakça

• 1. Maestri, N. E., Clissold, D. B., & Brusilow, S. W. (1995). Long-term survival of patients with argininosuccinate synthetase deficiency. The Journal of pediatrics, 127(6), 929-935.
• 2. Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver C, Beaudet A, Valle D, Sly W, eds. Metabolic and Molecular Bases of Inherited Disease. 8 ed. New York: McGraw Hill;20011909-63
• 3. Rezvani, I., & Auerbach, V. H. (2000). Urea cycle and hyperammonemia. Berhman R, Kliegman R, Jenson H (red). Nelson textbook of pediatrics. 16e druk. Philadelphia: Saunders, 367-72.
• 4. Tokatli, A., Coşkun, T., & Ozalp, I. (1997). Citrullinemia. Clinical experience with 23 cases. The Turkish journal of pediatrics, 40(2), 185-193.
• 5. Guss, D. A., & Hoyt, D. B. (1987). Axial volvulus of Meckel's diverticulum: a rare cause of acute abdominal pain. Annals of emergency medicine, 16(7), 811-812.
• 6. Peoples, J. B., Lichtenberger, E. J., & Dunn, M. M. (1995). Incidental Meckel's diverticulectomy in adults. Surgery, 118(4), 649-652.
• 7. Berne, A. S. (1959). Meckel's diverticulum: X-ray diagnosis. New England Journal of Medicine, 260(14), 690-696.
• 8. Park, J. J., Wolff, B. G., Tollefson, M. K., Walsh, E. E., & Larson, D. R. (2005). Meckel diverticulum: the Mayo Clinic experience with 1476 patients (1950–2002). Annals of surgery, 241(3), 529-533.
• 9. Albayram, S., Murphy, K. J., Gailloud, P., Moghekar, A., & Brunberg, J. A. (2002). CT findings in the infantile form of citrullinemia. American journal of neuroradiology, 23(2), 334-336.
• 10. Walser, M. (1983). Urea cycle disorders and other hereditary hyperammonemic syndromes. Metabolic basis of inherited disease/[edited by] John B. Stanbury...[et al.].
• 11. GÜLCAN, H., BIÇAK, U., & AKINCI, A. Citrullinemia associated with congenital hypothyroidism. Ege Tıp Dergisi. 2004: 43 (3): 197, 9.
• 12. McMurray, W. C., Mohyuddin, F., Rossiter, R. J., Rathbun, J. C., Valentine, G. H., Koegler, S. J., & Zarfas, D. E. (1962). Citrullinuria: a new aminoaciduria associated with mental retardation. The Lancet, 279(7221), 138.
• 13. Başaklar, A. C. (2006). Bebek ve çocukların cerrahi ve ürolojik hastalıkları. Ankara: Palme Yayıncılık, 1765-86.
• 14. Akçakaya A, Alimoğlu O, Ozkan OV, Sahin M. Comlicated Meckel’s diverticulum. Ulus Travma Acil Cerrahi Derg 2003;9(4):246-9
• 15. Kirshtein B, Roy-Shapira A, Lantsberg L, Avinoach E, Mizrahi S: Laparoscopic management of acute small bowel obstruction. Surg Endosc 2005, 19:464-467.