Bartu BADAK, NECDET FATİH YAŞAR, Enver İHTİYAR

Sitrülinemi Hastasında Meckel Divertikül Perforasyonu

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.

Swallowing Meckel Diverticulum Perforation in a Citrulinnemia Patient

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.

PDF

___

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. Urea cycle disorders and other hereditary hyperammonemic syndromes. In: Stanbury JB, Whyngaarden JB, Frederickson DS, Goldstein SI, Brown MS, eds. The Metabolic Basis of Inherited Disease. 5th ed. New York, NY: McGraw-Hill;1985: 419-20
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.