PEDIATRIC SURGERY UPDATE ©
VOLUME 14, 2000


Volume 14 No 01 JANUARY 2000

Rhabdomyosarcoma - Genetics

Most rhabdomyosarcomas (RMS) occurs sporadically. A few are associated to syndromes such as Beckwith-Wiedemann, Li-Fraumeni, and Neurofibromatosis I. Risk factors in the development of RMS include maternal use of marijuana & cocaine, exposure to radiation, and maternal history of stillbirth. Alveolar (aRMS) and embryonal RMS (eRMS) are the most genetically studied sarcomas in children. The most consistent genetic mutation identified in more than 70% of aRMS is translocation of chromosomes 2 and 13, t(2;13)q35-37;q14). The PAX3 loci in chromosome 2 fuses to the FKHR (fork head in RMS) domain of chromosome 13 creating a powerful chimeric PAX3-FKHR gene. Another of the reported translocation is t(1;13)(p36;q14) involving chromosome 1 and 13 in 10% of aRMS. In this variant Chromosome 1 locus encoding PAX7 fused to FKHR in chromosome 13 resulting in another chimeric transcript PAX7-FKHR.PAX7-FKHR tumors tend to occur in younger patients, more often in the extremity, more often localized lesions and are associated with significantly longer event-free survival. Identification of fusion gene status may be a useful diagnostic tool in differentiating RMS from other round cell tumors. eRMS contains frequent allelic loss on chromosome 11 (11p15), a genetic feature specific for this type of tumor.The presence of a consistent region of allelic loss is indicative of the presence of a tumor suppressor gene that is inactivated. This leads to overexpression of insulin-like growth factor II gene that is known to play a role in the development of embryonal tumors. Other alterations associated with eRMS are distint patterns of chromosomal gains in contrast with aRMS which shows genomic amplification. Both tumors share alterations in the p53 gene at the germline level contributing to increase susceptibility to other tumors characteristics of the Li-Fraumeni syndrome.


References
1- Barr FG: Molecular Genetics and Pathogenesis of Rhabdomyosarcoma. J Pediatr Hematol Oncol 19(6): 483-491, 1997
2- Rubnitz JE, Crist WM: Molecular Genetics of Childhood Cancer: Implications for Pathogenesis, Diagnosis, and Treatment. Pediatrics 100(1): 101-108, 1997
3-  Kelly KM, Womer RB, Sorensen PH, Xiong QB, Barr FG: Common and variant gene fusions predict distinct clinical phenotypes in rhabdomyosarcoma. J Clin Oncol 15(5):1831-6, 1997
4- Frascella E, Toffolatti L, Rosolen A: Normal and rearranged PAX3 expression in human rhabdomyosarcoma. Cancer Genet Cytogenet 15;102(2):104-9, 1998
5- Bernasconi M, Remppis A, Fredericks WJ: Induction of apoptosis in rhabdomyosarcoma cells through down-regulation of PAX proteins. Proc Natl Acad Sci U S A 12;93(23):13164-9, 1996
6- Weber-Hall S, Anderson J, McManus A, Abe S, Nojima T, Pinkerton R, Pritchard-Jones K, Shipley J: Gains, losses, and amplification of genomic material in rhabdomyosarcoma analyzed by comparative genomic hybridization. Cancer Res 15;56(14):3220-4, 1996
7- Grosfeld JL: Risk-Based Management: Current Concepts of Treating Malignant Solid Tumors of Childhood. J Am Coll Surg 189(4): 407-425, 1999

Intestinal Non-Hodgkin Lymphoma

In 1.6% of all ileo-colic intussusception in children a malignant Non-Hodgkin Lymphoma (NHL) is the culprit. Primary gastrointestinal NHL usually present with a median age of eight years, colicky abdominal pain, bloody stools and palpable mass. Is the most frequent extranodal lymphoma. Other times symptoms take the form of nonspecific abdominal pain, intestinal obstruction or mimic appendicitis. Intestinal NHL has rapid doubling times (12-36 hrs) making it sensitive to cytotoxic drugs. During presentation localized or disseminated disease is seen evenly. Children with actual or simulated acute abdominal conditions are the ones that receive early therapy and have best survival (Stage I/II disease). Bulk disease in the abdomen as predicted by levels of LDH, interleukin II receptor and B2 microglobulin level determines outcome. Complete resection, absence of bone marrow and CNS involvement offers the best five-year survival rates (80-97%). Suspicious lymph nodes should be removed, but functional impairment is not justified. Most of these children will receive minimal adjuvant chemotherapy. In case of large retroperitoneal tumors, disseminated or metastatic disease aggressive debulking should be avoided and the role of surgery should be aimed at establishing a tissue diagnosis as fast as possible. Debulking is associated with greater complications and delay in instituting primary chemotherapy. Bowel perforation carries the worst prognosis.


References
1- Wayne ER, Campbell JB, Kosloske AM, Burrington JD: Intussusception in the older child- suspect lymphosarcoma. J Pediatr Surg 11(5):789-94, 1976
2- Stovroff MC, Coran AG, Hutchinson RJ: The role of surgery in American Burkitt's lymphoma in children. J Pediatr Surg 26(10):1235-8, 1991
3- LaQuaglia MP, Stolar CJ, Krailo M, Exelby P: The role of surgery in abdominal non-Hodgkin's lymphoma: experience from the Childrens Cancer Study Group. J Pediatr Surg 27(2):230-5, 1992
4- Watanabe Y, Ito T, Horibe K, Ishiguro Y, Nimura Y: Advanced primary non-Hodgkin's lymphoma of the small intestine in childhood: report of four cases. Surg Today 24(11):1023-7, 1994
5- Reiter A, Zimmermann W, Zimmermann M, von Schweinitz D, Riehm H, Mildenberger H: The role of initial laparotomy and second-look surgery in the treatment of abdominal B-cell non-Hodgkin's lymphoma of childhood. A report of the BFM Group. Eur J Pediatr Surg 4(2):74-81, 1994
6- Gahukamble DB, Khamage AS: Limitations of surgery in intraabdominal Burkitt's lymphoma in children. J Pediatr Surg 30(4):519-22, 1995
7- Yanchar NL, Bass J: Poor outcome of gastrointestinal perforations associated with childhood abdominal non-Hodgkin's lymphoma. J Pediatr Surg 34(7):1169-74, 1999

Ectopic Pancreas

Ectopic pancreatic tissue is found incidentally or may cause problems when associated with a duplication cyst, a Meckel diverticulum, in the stomach, in a congenital duodenal diaphragm and in the ileum (as lead point of an intussusception). The presence of ectopic tissue in patients with Meckel's diverticulum is a main risk for occurrence of an acute nonmechanical complication. Most heterotopic pancreas identified incidentally in asymptomatic children occurs as a patch of tissue in the serosal surface of the proximal jejunum with fully formed acinar tissue, islets and draining ducts. Incidental removal is not indicated unless the location harbingers problems. Ectopic pancreatic tissue is susceptible to drugs also.


References
1- Artigas V, Calabuig R, Badia F, Rius X, Allende L: Meckel's diverticulum: value of ectopic tissue. Am J Surg 151(5):631-4, 1986
2- Pang LC: Pancreatic heterotopia: a reappraisal and clinicopathologic analysis of 32 cases. South Med J ;81(10):1264-75, 1988
3- Salman B, Besbas N, Coskun T, Yilmazbayhan D, Sarialioglu F: Intussusception due to ectopic pancreatic tissue in a nine-month-old child. Turk J Pediatr 34(4):255-8, 1992
4- Rubesin SE, Furth EE, Birnbaum BA, Rowling SE: Ectopic pancreas complicated by pancreatitis and pseudocyst formation mimicking jejunal diverticulitis. Br J Radiol 70:311-3, 1997
5- Abel R, Keen CE, Bingham JB, Maynard J, Agrawal MR: Heterotopic pancreas as lead point in intussusception: new variant of vitellointestinal tract malformation. Pediatr Dev Pathol 2(4):367-70, 1999

Volume 14 No 02 FEBRUARY 2000

Neuroblastoma - Genetics

Neuroblastoma (NB) is a malignant tumor of the sympathetic system that develops from the neural crests: sympathetic ganglion cells and adrenal glands. NB can behave seemingly benign, undergo spontaneous regression, mature into a benign ganglioneuroma or progress to kill its host. The most characteristic genetic abnormality of NB is deletion of the short arm of chromosome 1 (1p) occurring in 70% of primary diploid tumors. Loss or inactivation of a tumor suppressor gene at this site is critical for progression of neuroblastoma. Loss of heterozygosity in chromosome 14 long arm (14q) has also been identified in 50% of NB cells studied with no clinical behavior identified. Gain of chromosome 17 is associated with more aggressive tumors. Another consistent chromosomal aberration identified in 25% of  NB is the presence of double-minute chromosomes producing multiple copies of the oncogene N-myc. N-myc  activation results in tumor formation and is strongly associated with advance stages of disease and poor outcome independent of the stage of the tumor or age of the patient. Most NB cells are diploid and many are hyperdiploid. Hyperdiploidy is a good prognostic feature of NB, while diploid tumors at any age and hyperdiploid in older patients carry a worse prognosis requiring more intensive treatment. TRK receptors (A, B and C) are detected in 90% of NB and correlates inversely with N-myc expression. High TRK-A correlates with improved survival playing a role in the propensity of NB to regress or differentiate. TRK-B is associated with more matured tumors and TRK-C with lower stage tumors. High levels of TRK expression are associated with better prognosis, earlier stage, lower patient age and lack of N-myc expression.


References
1- Rubnitz JE, Crist WM: Molecular Genetics of Childhood Cancer: Implications for Pathogenesis, Diagnosis, and Treatment. Pediatrics 100(1): 101-108, 1997
2- Kreissman SG: Molecular Genetics: Toward an Understanding of Childhood Cancer. Sem Pediatr Surg 2(1): 2-10, 1993
3- Castleberry RP: Clinical and biologic features in the prognosis and treatment of neuroblastoma. Curr Opin Oncol 4(1):116-23, 1992
4- Tracy T Jr, Weber TR: Current concepts in neuroblastoma. Surg Annu 1:227-45, 1992
5- Hata Y, Sasaki F, Naito H, et al: Late recurrence in neuroblastoma. J Pediatr Surg 26(12):1417-9, 1991
6- Ciccarone V, Spengler BA, Meyers MB, et al: Phenotypic diversification in human neuroblastoma cells: Expression of distinct neural crest lineages. Cancer Res 49: 219-225, 1989
7- Brodeur GM, Maris JM, Yamashiro DJ, et al: Biology and Genetics of Human Neuroblastomas. J Pediatr Hematol Oncol 19(2): 93-101, 1997

Recurrent Abdominal Pain

Recurrent abdominal pain (RAP) severe enough to seek surgical advice is a common problem in children. Most of the children with RAP are females. During evaluation multiple imaging (US, CT-Scan, MRI, HIDA-CCK, barium studies) and endoscopic diagnostic studies are done, most of which are not too helpful in arriving with a diagnosis. Symptoms wane spontaneously in almost one-third of these cases after a 4-6 week period of conservative observation. With persistent symptoms a diagnostic laparoscopy can be offered due to its superior visualization of pelvic and abdominal structures. Those with right lower quadrant pain are an important group, since adhesions, chronic appendiceal inflammation and inspissated appendicolith have been identified. With laparoscopy for RAP the yield of abdominal pathology will increase (chronic appendicitis, cysts, Meckel's and hernias), school loss will minimize and an economic benefit will be obtained.  The lap procedure has lent itself to a variety of patients because of its ease, safety, and diagnostic accuracy.


References
1-Stringel G, Berezin SH, Bostwick HE, Halata MS: Laparoscopy in the Management of Children with Chronic Recurrent Abdominal Pain. JSLS Vol. 3:215-219, 1999.
2 -Stylianos S, Stein JE, Flanigan LM, Hechtman DH: Laparoscopy for Diagnosis and Treatment of Recurrent Abdominal Pain in Children. J Pediatr Surg. 31(8): 1158-1160, 1996
3- Miller K, Mayer E, Moritz E: The role of laparoscopy in chronic and recurrent abdominal pain. Am J Surg 172(4):353-6, 1996
4- Morfesis FA, Ahmad F: Use of laparoscopy in the treatment of acute and chronic right lower quadrant pain. J Ky Med Assoc 94(1):16-21, 1996
5- Schier F, Waldschmidt J: Laparoscopy in children with ill-defined abdominal pain.  Surg Endosc 8(2):97-9, 1994

Muscle Biopsy

Muscle biopsy is a standard procedure to help establish a diagnosis in case of suspecting myopathy in children. Though the procedure is technically easy, complications can occur the result of not using appropriate anesthesia strategy. We encourage initial sedation with midazolin, followed by ketamine or propofol along with local anesthesia (xylocaine/marcaine 1-2% mixture) in this cases. We strongly discourage and avoid the use of halogenated gases or muscle paralysis whenever possible. Most frequent cause of cardiac arrest causing sudden death following anesthesia in a child suspected of having a muscular dystrophy (Duchenne, or any other type) with elevated CPK level is the result of rhabdomyolysis caused by halogenated gases (halothane, isoflurane, sevoflurane, etc.) or muscle-paralysis drugs (succinylcholine, suxamethonium). Rhabdomyolysis triggers severe hyperkalemia, hyperphosphatemia, hypocalcemia, massive increases in creatine kinase, aspartate aminotransferase, and alanine aminotransferase concentrations, and high ion gap metabolic acidosis. Following unexplained anesthetic deaths, pathologists should examine body fluid electrolytes and skeletal muscle for myopathy and dystrophin.


References
1- Obata R, Yasumi Y, Suzuki A, Nakajima Y, Sato S: Rhabdomyolysis in association with Duchenne's muscular dystrophy. Can J Anaesth 46(6):564-6, 1999
2- Miller ED Jr, Sanders DB, Rowlingson JC, Berry FA Jr, Sussman MD, Epstein RM: Anesthesia-induced rhabdomyolysis in a patient with Duchenne's muscular dystrophy. Anesthesiology 48(2):146-8, 1978
3- Sethna NF, Rockoff MA, Worthen HM, Rosnow JM: Anesthesia-related complications in children with Duchenne muscular dystrophy. Anesthesiology 68(3):462-5, 1988
4- Sullivan M, Thompson WK, Hill GD: Succinylcholine-induced cardiac arrest in children with undiagnosed myopathy. Can J Anaesth 41(6):497-501, 1994
5- McKishnie JD, Muir JM, Girvan DP: Anaesthesia induced rhabdomyolysis--a case report. Can Anaesth Soc J 30(3 Pt 1):295-8, 1983
6- Moore WE, Watson RL, Summary JJ: Massive myoglobinuria precipitated by halothane and succinylcholine in a member of a family with elevation of serum creatine phosphokinase. Anesth Analg 55(5):680-2, 1976

Volume 14 No 03 MARCH 2000

Frantz Tumor

Papillary cystic tumor of the pancreas, also known as Frantz tumor (FT) since 1959, occurs predominantly in girls and young women (mean age 21 years). Abdominal pain and a slowly growing incidentally found epigastric mass is the most common complains, associated at times with weight loss, anorexia and vomiting. FT is well-encapsulated, shows solid and hemorrhagic patterns, contain PAS-positive cytoplasmic or prozymogen granules as seen in acinar cell tumors and behaves as a low-grade malignancy. CT scans suggest the diagnosis (thick capsule, calcifications, mixed solid and cystic patterns, grows toward the outside of the pancreas). Differential diagnosis includes traumatic pseudocysts, serous and mucinous cystadenomas of the pancreas. Immunohistochemically the tumor is positive for alpha-1-antitrypsin while negative for insulin and glucagon. Complete removal is the treatment of choice for tumor arising in any part of the pancreas. FT is frequently amenable to local resection and has a good long-term survival rate after excision. Metastasis (liver) or local recurrence occurs in 10% of cases. Older age at diagnosis or recurrence disease increases the malignant biological behavior of the tumor. Radiotherapy and, or chemotherapy are of no use for its treatment.


References
1- Todani T, Shimada K, Watanabe Y, Toki A, Fujii T: Frantz's tumor: a papillary and cystic tumor of the pancreas in girls. J Pediatr Surg 23(2):116-21, 1988
2- Tait N, Greenberg ML, Richardson AJ, Osborn RA, Little JM: Frantz's tumour: papillary and cystic carcinoma of the pancreas. Aust N Z J Surg 65(4):237-41, 1995
3- Horisawa M, Niinomi N, Sato T, Yokoi S, Oda K, Ichikawa M, Hayakawa S: Frantz's tumor (solid and cystic tumor of the pancreas) with liver metastasis: successful treatment and long-term follow-up. J Pediatr Surg 30(5):724-6, 1995
4- Yang YJ, Chen JS, Chen CJ, Lin PW, Chang KC,Tzeng CC: Papillary cystic tumor of the pancreas in children.  Scand J Gastroenterol 31(12):1223-7, 1996
5- Rivera M, Ortiz VN, Duran N, Trujillo O: Solid and papillary neoplasm of the pancreas: a case presentation. Bol Asoc Med P R 90(4-6):91-2, 1998
6- Ooi LL, Ho GH, Chew SP, Low CH, Soo KC: Cystic tumours of the pancreas: a diagnostic dilemma. Aust N Z J Surg 1998 Dec;68(12):844-6

Bile Duct Injury

Laparoscopic cholecystectomy (LC) has replaced the open procedure as the treatment of choice in gallbladder disorders. With the lap technique an increase two- to threefold in the incidence (0.5%) of bile duct injuries (BDI) has also occurred. Inapropiate anatomy identification and aberrant situations are the most common cause of BDI. BDI can be classified into transection, lacerations, leaks or strictures. Disease complexity, increasing age, male gender and admission to a teaching hospital are associated with an increase risk of injury. Classic injuries involve clipping & dividing the CBD for the cystic duct. Other BDI may result from stenting injury, thermal injury, lose cystic duct clip or an accessory "Luschka" duct. Such injuries cause two principal clinical manifestations: 1) bile leaks with pain and secondary bile peritonitis, and 2) biliary obstruction due to partial or complete hepatic or common duct ligation (jaundice) or late stricture formation. US, HIDA scan or CT-Scan followed by ERCP or PTC may help diagnosed and define the exact location and nature of the BDI. Complete proximal obstruction may need transhepatic biliary catheters in each radical duct to relieve obstruction. A bile leak may need percutaneous drainage for sepsis control. Cystic or accessory ducts leaks can be dealt with endoscopic ampullary stenting or re-laparoscopic ligation if identified early. The most effective means of reconstructing a major BDI is using roux-en-y hepaticojejunostomy after inflammation and adhesions of the initial insult have subsided. Intraoperative cholangiography appears to protect against BDI by preventing misidentification of anatomy. Conversion to open cholecystectomy is essential in avoiding these injuries when the anatomy remains uncertain.


References
1- Ferguson CM; Rattner DW; Warshaw AL: Bile duct injury in laparoscopic cholecystectomy. Surg Laparosc Endosc 2(1):1-7, 1992
2- Davidoff AM; Pappas TN; Murray EA; Hilleren DJ, Johnson RD; Baker ME; Newman GE; Cotton PB; Meyers WC: Mechanisms of major biliary injury during laparoscopic cholecystectomy.  Ann Surg 215(3):196-202, 1992
3- Lee VS; Chari RS; Cucchiaro G; Meyers WC: Complications of laparoscopic cholecystectomy. Am J Surg 165(4):527-32, 1993
4- Branum G; Schmitt C; Baillie J; Suhocki P; Baker M, Davidoff A; Branch S; Chari R; Cucchiaro G; Murray E; et al: Management of major biliary complications after laparoscopic cholecystectomy. Ann Surg 217(5):532-40, 1993
5- Bergman JJ; van den Brink GR; Rauws EA; de Wit L, Obertop H; Huibregtse K; Tytgat GN; Gouma DJ: Treatment of bile duct lesions after laparoscopic cholecystectomy. Gut 38(1):141-7, 1996
6- Lillermoe KD; Martin SA; Cameron JL; Yeo CJ, Talamini MA; Kaushal S; Coleman J; Venbrux AC; Savader SJ, Osterman FA; Pitt HA: Major bile duct injuries during laparoscopic cholecystectomy. Follow-up after combined surgical and radiologic management. Ann Surg 225(5):459-68, 1997
7- MacFadyen Jr BV; Vecchio R; Ricardo AE; Mathis CR: Bile duct injury after laparoscopic cholecystectomy. The United States experience. Surg Endosc 12(4):315-21, 1998
8- Fletcher DR, Hobbs MS, Tan P, Valinsky LJ, Hockey RL: Complications of cholecystectomy: risks of the laparoscopic approach and protective effects of operative cholangiography: a population-based study. Ann Surg 229(4):449-57, 1999

Septate GB

Congenital anomalies of the gallbladder includes agenesis (congenital absence), duplications, and septation. Finding a Septate gallbladder (GB) is a very rare event that could herald biliary problems. The septum (which contains smooth muscle fibers) usually divides the GB into two chambers. The anomaly in endoderm occurs during the second month of fetal life when the GB lumen develops. Mostly the malformation runs asymptomatic and it is found accidentally without clinical relevance unless the pinpoint communication between the cavities causes stagnation, inflammation or stone formation. Children present with history of chronic biliary colicky abdominal pain associated with nausea and vomiting. Symptoms are caused by pressure in  the small chambers of the GB along with delay emptying. Diagnosis is made using Ultrasound (flat fundus, elongated and dilated GB) couple with biliary scintigraphy (HIDA Scan). Symptomatic children should be managed with laparoscopic cholecystectomy.


References
1- Esper E, Kaufman DB, Crary GS, Snover DC, Leonard AS: Septate Gallbladder with Cholelithiasis: A Cause of Chronic Abdominal Pain in a 6-Year-Old Child. J Pediatr Surg 27 (2): 1560-1562, 1992
2- Doyle TC: Flattened fundus sign of the septate gallbladder. Gastrointest Radiol 9(4):345-7, 1984
3- Mrhac L, Zakko S, Ibrahim A: Imaging of septate gallbladder. Clin Nucl Med 24(3):209-10, 1999

Volume 14 No 04 APRIL 2000

Gallstone Pancreatitis

Gallstone pancreatitis (GP) continue to be the most common complication of cholelithiasis in children. The most frequently encountered mechanisms of gallstone pancreatitis appear to be impacted stones, congenital pathology in the ampullary area, and passage of small stones through the common bile duct (CBD), with temporary obstruction and inflammation followed by disruption of pancreatic ductules and/or acinar cell membrane. Should the stone impact the ampulla jaundice could result. Management of the pancreatitis during the acute episode is supportive (bowel decompression, bowel rest and total parenteral nutrition), and the course of the disease for the most part is benign (low Ranson's criteria). When patients are discharged before cholecystectomy, the recurrence rate of acute biliary pancreatitis that requires emergency readmission is unacceptably high. Emergency endoscopic retrograde cholangiopancreaticogram (ERCP) with papillotomy has been found to reduce mortality and biliary sepsis in the early acute situation. Considering the relatively low incidence of CBD stones in GP routine preoperative ERCP is not indicated. Preop ERCP can be restricted to patients with cholangitis, persistent hyperbilirubinemia, CBD stones or persistent hyperamylasemia. Laparoscopic cholecystectomy should be done during the same admission after symptoms of pancreatitis and hyperamylasemia abates. Intraoperative cholangiography needs to be done to visualize the anatomy and address common bile duct stones.


References
1- Frei GJ, Frei VT, Thirlby RC, McClelland RN: Biliary pancreatitis: clinical presentation and surgical management. Am J Surg 151(1):170-5, 1986
2- Beshlian K, Ryan JA Jr: Pancreatitis in teenagers. Am J Surg 152(1):133-8, 1986
3- Albu E, Buiumsohn A, Lopez R, Gerst PH: Gallstone pancreatitis in adolescents. J Pediatr Surg 22(10):960-2, 1987
4- Fan ST, Lai EC, Mok FP, Lo CM, Zheng SS, Wong J: Early treatment of acute biliary pancreatitis by endoscopic papillotomy. N Engl J Med 28;328(4):228-32, 1993
5- Lugo-Vicente HL: Trends in management of gallbladder disorders in children. Pediatr Surg Int 12(5-6):348-52, 1997
6- Bulkin AJ, Tebyani N, Dorazio RA: Gallstone pancreatitis in the era of laparoscopic cholecystectomy. Am Surg 63(10):900-3, 1997
7- Chang L, Lo SK, Stabile BE, Lewis RJ, de Virgilio C: Gallstone pancreatitis: a prospective study on the incidence of cholangitis and clinical predictors of retained common bile duct stones. Am J Gastroenterol 93(4):527-31, 1998
8- Holcomb GW 3rd, Morgan WM 3rd, Neblett WW 3rd: Laparoscopic cholecystectomy in children: lessons learned from the first 100 patients. J Pediatr Surg 34(8):1236-40, 1999

Mirizzi's Syndrome

Mirizzi syndrome (MS) is an unusual finding of biliary tree diseases. Refers to partial mechanical obstruction of the common hepatic duct owing to compression by a stone impacted in the infundibulum, Hartmann's pouch or cystic duct, or due to the inflammatory reaction resulting from compression. The typical diagnostic signs of MS are dilatation of the common hepatic duct & radicals above the level of a gallstone impacted in the cystic duct, with normal duct width below the stone. Obstructive jaundice, pain and cholangitis are the common presentations of this condition. Diagnosis may require a combination of ultrasonography, computed tomography, and cholangiography (percutaneous or endoscopic retrograde). MS is classified as type I (stenosis of the common hepatic duct due to an impacted cystic duct stone), type II (fistula between cystic and common hepatic duct), type III (hepatic duct stenosis due to a stone), and type IV (hepatic duct stenosis due to cholecystitis). Management depends on the type identified and may consist of open partial cholecystectomy and choledochoplasty with a gallbladder flap, common bile duct exploration with t-tube placement or bilio-enteric anastomosis. Laparoscopic technique is fraught with bile duct injury increasing further the morbidity. The morbidity and mortality associated with this rare syndrome can be relatively high and a significant number of patients may develop late biliary strictures.


References
1- Becker CD, Hassler H, Terrier F: Preoperative diagnosis of the Mirizzi syndrome: limitations of sonography and computed tomography. AJR Am J Roentgenol 143(3):591-6, 1984
2- Didlake R, Haick AJ: Mirizzi's syndrome. An uncommon cause of biliary obstruction. Am Surg 56(4):268-9, 1990
3- Ibrarullah M, Saxena R, Sikora SS, Kapoor VK, Saraswat VA, Kaushik SP: Mirizzi's syndrome: identification and management strategy. Aust N Z J Surg 63(10):802-6, 1993
4- Toursarkissian B, Holley DT, Kearney PA, McGrath PC, Zweng TN: Mirizzi's syndrome. South Med J 87(4):471-5, 1994
5- Nagakawa T, Ohta T, Kayahara M, Ueno K, Konishi I, Sanada H, Miyazaki I: A new classification of Mirizzi syndrome from diagnostic and therapeutic viewpoints. Hepatogastroenterology 44(13):63-7, 1997
6- Karakoyunlar O, Sivrel E, Koc O, Denecli AG: Mirizzi's syndrome must be ruled out in the differential diagnosis of any patients with obstructive jaundice. Hepatogastroenterology 46(28):2178-82, 1999

Prenatal Inguinal Hernia

The diagnosis of an inguinal hernia (IH) has been made prenatally with the help of sonography in a few cases. Moving, echo-free, cystlike structures representing peristalsis within trapped loops of bowel in  an abnormally enlarged scrotum are the main ultrasonographic finding. There is no need to change the route of birth due to the presence of a prenatal IH. The differential diagnosis consists of other masses protruding from the abdominal wall such as omphalocele or from the perineal region (sacrococcygeal teratoma, undescended testis and communicating  hydrocele). After delivery the diagnosis is confirmed during the initial physical exam of the baby by finding a reducible bulge in the inguinal area.  Repair of the inguinal hernia should be done before discharge from the hospital to avoid feeding difficulties, incarceration, strangulation or gonadal infarction. Prematures have a higher incidence of developing complications from the IH than term infants.


References
1- Ober KJ, Smith CV: Prenatal ultrasound diagnosis of a fetal inguinal hernia containing small bowel. Obstet Gynecol 78(5 Pt 2):905-6, 1991
2- Meizner I, Levy A, Katz M, Simhon T, Glezerman M: Prenatal ultrasonographic diagnosis of fetal scrotal inguinal hernia. Am J Obstet Gynecol 166(3):907-9, 1992
3- Shipp TD, Benacerraf BR: Scrotal inguinal hernia in a fetus: sonographic diagnosis. AJR Am J Roentgenol 165(6):1494-5, 1995
4- Paladini D, Palmieri S, Morelli PM, Forleo F, Morra T, Salviati M, Zampella C, D'Angelo A, Martinelli P: Fetal inguinoscrotal hernia: prenatal ultrasound diagnosis and pathogenetic evaluation. Ultrasound Obstet Gynecol 7(2):145-6, 1996


Volume 14 No 05 MAY 2000

Dumping Syndrome

Dumping syndrome (DS) refers to a combination of vasomotor symptoms that occurs while the patient is eating (especially carbohydrates) and includes: faintness, weakness, dizziness, tachycardia, diaphoresis and the need to assume a reclining position. The child may develop early satiety, nausea, bloating and cramps with explosive bowel movement. DS is the physiologic response (release of various humoral agents from the gut: bradykinins, serotonins, enteroglucagon along with extracellular fluid shifts) to an altered movement of large amounts of hyperosmotic gastric chyme into the proximal small bowel. DS develops after 1- bypass (gastrojejunostomy), ablation (pyloroplasty) or alteration (antireflux surgery) of the pyloric sphincter mechanism, 2- removal of part of the stomach, or 3- malplacement of a feeding gastrostomy tube. Fundoplication is the most common cause of DS in children. The diagnosis is made by demonstrating an abnormal response to an orally administered glucose challenge. Radionuclide studies confirm the presence of rapid gastric emptying. Cows' milk formula and meals made with cooked starch provoke dumping symptoms, hyperglycemia and hyperinsulinemia. Diet modification (frequent small meals high in protein, fat emulsions and uncooked corn starch - lactose free formulas)  is the best useful medical therapy. In other words not overeating, reducing carbohydrates in food, abstaining from dairy products and eliminating fluids with meals. Pectin 5-15 g/day divided into six doses can be added to the diet. Late DS refers to hypoglycemia that result from innapropiate timing of insulin release.


References
1- Hirsig J, Baals H, Tuchschmid P, Spitz L: Dumping syndrome following Nissen's fundoplication: a cause for refusal to feed. J Pediatr Surg 19(2):155-7, 1984
2- Caulfield ME, Wyllie R, Firor HV, Michener W: Dumping syndrome in children. J Pediatr 110(2):212-5, 1987
3- Khoshoo V, Reifen RM, Gold BD, Sherman PM: Nutritional manipulation in the management of dumping syndrome. Arch Dis Child 66(12):1447-8, 1991
4- Khoshoo V, Roberts PL, Loe WA, Golladay ES: Nutritional management of dumping syndrome associated with antireflux surgery. J Pediatr Surg 29(11):1452-4, 1994
5- Samuk I, Afriat R, Horne T, Bistritzer T, Barr J: Dumping syndrome following Nissen fundoplication, diagnosis, and treatment. J Pediatr Gastroenterol Nutr 23(3):235-40, 1996
6- Borovoy J, Furuta L, Nurko S: Benefit of uncooked cornstarch in the management of children with dumping syndrome fed exclusively by gastrostomy. Am J Gastroenterol 93(5):814-8, 1998

Postoperative Intussusception

Intussusception can occur a few days after a surgical procedure in children. The diagnosis is delayed because symptoms mimic common postoperative complaints. Suspicion should be raised when an apparently favorable postoperative course is suddenly complicated by intestinal obstruction. Postoperative intussusception (POI) is generally characterized by intermittent abdominal pain, irritability and vomiting. Initial symptoms included bilious vomiting or increased nasogastric drainage (after initial return of gut function). An abdominal mass is not usually palpable, and few children have bloody stools.  Plain abdominal radiographs revealed dilated loops of bowel and multiple air-fluid levels. Ultrasound can identify a target lesion characteristic of intussusception.  POI can follow Nissen fundoplication, tumor resection, small bowel procedure, pull-through procedures, nephrectomy and even gastrocystoplasty. Most are ileo-ileal or jejuno-ileal and will need surgical reduction. Diagnostic delay results in ischemic bowel needing resection.


References
1- Hulbert WC Jr, Valvo JR, Caldamone AA, Putnam TC: Intussusception following resection of Wilms tumor. Urology 21(6):578-80, 1983
2- West KW, Stephens B, Rescorla FJ, Vane DW: Postoperative intussusception: experience with 36 cases in children. Surgery 104(4):781-7, 1988
3- Holcomb GW 3d, Ross AJ 3d, O'Neill JA Jr: Postoperative intussusception: increasing frequency or increasing awareness? South Med J 84(11):1334-9, 1991
4- Jequier S, Argyropoulou M, Bugmann P: Ultrasonography of jejunal intussusception in children. Can Assoc Radiol J 46(4):285-90, 1995
5- Linke F, Eble F, Berger S: Postoperative intussusception in childhood. Pediatr Surg Int 14(3):175-7, 1998
6- de Vries S, Sleeboom C, Aronson DC: Postoperative intussusception in children. Br J Surg 86(1):81-3, 1999

Appendicolith

Appendicitis is usually diagnosed from signs, symptoms, results of simple laboratory tests a/o simple abdominal films. After simple abdominal films an appendicolith (coprolith, fecalith, retained barium or foreign body) is sometimes found in the symptomatic child with right lower quadrant pain or less commonly in an asymptomatic situation. In the child WITH SYMPTOMS of low abdominal pain this finding should be followed by appendectomy. Appendiceal fecaliths and calculi play a role in the pathogenesis of appendicitis and are associated with perforation and gangrene. In the ASYMPTOMATIC situation a prophylactic appendectomy is NOT justified when an appendicolith, retained barium or another foreign body within the lumen of the appendix is identified. A normal appendix will expel the appendicolith or barium in a variable period. The parents should be informed that appendicitis may develop and that the child should seek a physician if abdominal symptoms develop. A note should appear in the record explaining this conversation.


References
1- Maenza RL, Smith L, Wolfson AB: The myth of the fecalith. Am J Emerg Med 14(4):394-7, 1996
2- Nitecki S, Karmeli R, Sarr MG: Appendiceal calculi and fecaliths as indications for appendectomy. Surg Gynecol Obstet 171(3):185-8, 1990
3- Maglinte DD, Bush ML, Aruta EV, Bullington GE: Retained barium n the appendix: diagnostic and clinical significance. AJR Am J Roentgenol 137(3):529-33, 1981
4- Brender JD, Marcuse EK, Koepsell TD, Hatch EI: Childhood appendicitis: factors associated with perforation. Pediatrics 76(2):301-6, 1985
5- Meier DE: Appendicitis in a barium-filled appendix. South Med J 74(4):493-4, 1981
6-  Santini I, Pacheco R, Lugo-Vicente HL: Apéndice Peforada en Niños:Evaluacion de un Diagnóstico Tardío. PR Health Science J 14(4):263-267, 1995


Volume 14 No 06 JUNE 2000

Müllerian Duct Syndrome

Müllerian Duct Syndrome (MDS) refers to a genetic disorder of male pseudohermaphroditism (46 XY karyotype) characterized by normal masculinization of the external genitalia and the presence of uterus and fallopian tubes. Most cases are discovered during surgery for undescended testis, inguinal hernia or transverse testicular ectopia. MDS is caused by a deficient activity (most cases) or receptor insensitivity of antimullerian hormone (also known as Müllerian inhibitor factor). This hormone is produced by testicular Sertoli cells and is responsible of producing fetal regression of Müllerian structures (uterus & fallopian tubes) in genetic males. Most cases are transmitted as autosomal recessive restricted to males (sex-linked). Anatomic variants include fallopian tube or uterus within the inguinal canal, testis and tubes in a hernia sac or bilateral cryptorchidism with the testes embedded in the broad ligaments. The vas deferens is intimately adhered to the uterus lateral wall. Initial procedure consists of hernia repair, replacement of structure within pelvis and karyotype. After diagnosis follow-up management has been controversial. A few suggest partial removal of the uterus (leaving vas deferens intact on a thin pedicle of myometrium) and fallopian tubes with testicular fixation. Most content that surgical excision of persistent MDS structure may result in ischemic or traumatic damage to the vasa deferentia and testes and optimal management is orchiopexy leaving the uterus and fallopian tubes in situ. The testis in MDS are at risk of malignant degeneration.


References
1- Loeff DS, Imbeaud S, Reyes HM, Meller JL, Rosenthal IM: Surgical and Genetic Aspects of Persistent Müllerian Duct Syndrome. J Pediatr Surg 29(1): 61-65, 1994
2- Belville C, Josso N, Picard JY: Persistence of müllerian derivatives in males. Am J Med Genet 89(4):218-223, 1999
3- Rizk DE, Ezimokhai M, Hussein AS, Gerami S, Deb P: Persistent müllerian duct syndrome. Arch Gynecol Obstet 261(2):105-7, 1998
4- Karnak I, Tanyel FC, Akcoren Z, Hicsonmez A: Transverse testicular ectopia with persistent müllerian duct syndrome. J Pediatr Surg. 32(9):1362-4, 1997
 

Bleeding Nipple

Breast enlargement is commonly seen in newborns babies, a condition associated with clear or milky nipple discharge. Maternal hormones are considered the culprit. On rare occasions the mother of an infant will bring to you the attention that the child is having intermittent episodes of bleeding through the nipple. In infants it is a benign, self-limited condition that should be managed conservatively (it could take six months to go away). The main reason of bloody nipple discharge is mammary ductal ectasia, which extends down to the collecting tubules. Mammary duct ectasia was first reported in 1983, characterized by dilatation of the subareolar duct system, and by inflammatory reaction and fibrosis. The infant's own endocrine system is responsible for breast enlargement and mammary duct ectasia, though infection has also been postulated as etiologic factor. Surgical procedures should be avoided, because injury to the breast bud may cause permanent damage. Stimulation or massages to the breast should also be avoided. When associated with hypertrophied mammary glands, prepubertal gynecomastia should be sought.


References
1- Gershin T, Mogilner JG: [Bloody nipple discharge in an infant]. Harefuah 122(8):505-6, 1992
2- Iester A, Debbia C, Franzone G, Scribanis R, Puleo MG, Buzzanca C, Di Bella E, Alpigiani MG: [Mammary duct ectasia in children]. Minerva Pediatr 47(10):417-21, 1995
3- Olcay I, Gokoz A: Infantile gynecomastia with bloody nipple discharge. J Pediatr Surg 27(1):103-4, 1992
4-  Bober E, Ozer E, Akgur F, Buyukgebiz A: Bilateral breast masses and bloody nipple discharge in a two year-old boy. J Pediatr Endocrinol Metab 9(3):419-21, 1996
5- Stringel G, Perelman A, Jimenez C: Infantile mammary duct ectasia: a cause of bloody nipple discharge. J Pediatr Surg 21(8):671-4, 1986
6- Berkowitz CD, Inkelish SH: Bloody nipple discharge in infancy. J Pediatr 103:755-758, 1984

Pilonidal Sinus

Pilonidal sinus disease (PSD) is the result of a chronic inflammatory reaction of the subcutaneous tissue of the low back from midline skin orifices that ingest hair shafts in hirsute buttocks. PSD arises from hair follicles in the skin, appears after puberty and affects mostly males adolescents. Male sex, adolescence and a familial disposition are associated with the development of PSD. Minor local trauma (‘Jeep Disease' in military personnel) and overweight are the most important factors for development of symptomatic PSD. Primary closure after excision of PSD has frequently been complicated by wound breakdowns. Sepsis and  hematoma formation are the main causes of wound breakdowns. PSD is best treated in the acute situation with follicle removal and lateral drainage. The method is suited to outpatient management and gives minimal disability and good long-term control. In the chronic situation conservative therapy  (meticulous hair control by natal cleft shaving, perineal hygiene, and limited lateral incision/drainage for abscess) effectively controls PSD in the nonoperative outpatient setting while promoting near-normal work status preferred over excisional operations.


References
1- Bascom J: Pilonidal disease: long-term results of follicle removal. Dis Colon Rectum 26(12):800-7, 1983
2- Golladay ES, Wagner CW: Pediatric pilonidal disease: a method of management. South Med J 83(8):922-4, 1990
3- Armstrong JH, Barcia PJ: Pilonidal sinus disease. The conservative approach. Arch Surg 129(9):914-7, 1994
4- Sondenaa K, Andersen E, Nesvik I, Soreide JA: Patient characteristics and symptoms in chronic pilonidal sinus disease. Int J Colorectal Dis 10(1):39-42, 1995


Home
Table
Index
Past
Review
Submit
Techniques
Editor
Handbook
Articles
Download
UPH
Journal Club
WWW
Meetings
Videos