VOLUME 10, 1998

Volume 10 No 01 JANUARY 1998

Caroli's Disease

Caroli's Disease (CD) first described in 1958 by Jacques Caroli as communicating cavernous ectasia of the biliary tree is an uncommon cause of chronic, often lifethreatening hepatobiliary disease. CD is a rare condition characterized by non-obstructive saccular or fusiform dilatation of the intrahepatic bile ducts usually manifested in childhood, thought to be congenital and presumably of autosomal recessive hereditary character. Caroli described two types: Type 1- the rare isolated variety characterized by recurring episodes of cholangitis. The more frequently occurring Type 2 is associated with congenital hepatic fibrosis, and consequently there are also symptoms of portal hypertension. Both types may make their first appearance at a very early age. Diagnosis can be done non-invasively with hepatobiliary scintigraphy, ultrasound and echo-doppler. The threats of this condition are: cholestasis, cholangitis, intrahepatic lithiasis, hepatic failure,  and cholangiocarcinoma. Treatment of the localized form includes lobectomy. In diffuse disease, treatment may be medical with antibiotics and sometimes bile solvents. In case of failure, transplantation may be entertained. Therapy using Ursodeoxycholic acid (10 mg/kg/day) is indicated for intrahepatic stones in Caroli's syndrome. Patients must be followed closely for many years to ensure that the intrahepatic ducts do not remain dilated and that cholangitis do not recur.
1- Miller WJ, Sechtin AG, Campbell WL, Pieters PC:  Imaging findings in Caroli's disease. AJR Am J Roentgenol 165(2):333-7, 1995
2- Desroches J, Spahr L, Leduc F, Pomier-Layrargues G, Picard M; Picard D, Chartrand R, Morais J: Noninvasive diagnosis of Caroli syndrome associated with congenital hepatic fibrosis using hepatobiliary scintigraphy. Clin Nucl Med 20(6):512-4, 1995
3- Ros E, Navarro S, Bru C, Gilabert R, Bianchi L, Bruguera M: Ursodeoxycholic acid treatment of primary hepatolithiasis in Caroli's syndrome. Lancet 14;342(8868):404-6, 1993


Splenosis refers to autotransplantation of individual fragments of splenic tissue left behind after either operative or traumatic removal of the spleen. Although rarely symptomatic, splenosis may cause intestinal obstruction since the splenules link adjacent loops of bowels to each other, kinking and obstructing them. Tomographic selective splenic scintigraphy with sulphur colloid and heatdamaged red cells is the most sensitive method to detect splenosis. Intramural lesions may also be detected in barium studies of patients after prior trauma or splenectomy. In large inoculum the splenotic tissue has been found to have the capacity to remove intranuclear inclusion bodies from circulating red cells, phagocyte old erythrocytes and confer some immune protection. Patient who undergo emergency splenectomy for trauma are at a much higher risk of developing splenosis than those splenectomized due to hematologic conditions. Spilled splenic tissue seeds the peritoneum, takes root and grow into vascularized splenules. Experimental evidence (Folkman) suggests that the presence of a large amount of vascularized spleen inhibits the growth of other splenic tissue in mice, theory why patients who undergo partial splenectomy, splenography or are merely observed after splenic rupture have almost no splenosis. Management of splenosis is expectant.
1- Gunes I, Yilmazlar T, Sarikaya I,  Akbunar T, Irgil C: Scintigraphic detection of splenosis: superiority of tomographic selective spleen scintigraphy. Clin Radiol 49(2):115-7, 1994
2-  Soutter AD,  Ellenbogen J,  Folkman J: Splenosis is regulated by a circulating factor. J Pediatr Surg 29(8):1076-9, 1994
3- Hathaway JM, Harley RA, Self S, Schiffman G, Virella G: Immunological function in post-traumatic splenosis. Clin Immunol Immunopathol 74(2):143-50, 1995
4- Marchant LK, Levine MS, Furth E   :  Splenic implant in the jejunum: radiographic and pathologic findings. Abdom Imaging 20(6):518-20, 1995
5- Prasad C, Beck R: Unusual problems in surgery: Splenosis and intestinal obstruction. Mt Sinai J Med 35: 534-540, 1968

Pancreas Development

The pancreas develops from  an anterior and posterior anlage of the foregut early during gestation (28 days). The anterior bud leads to the liver and body and tail of the pancreas. The posterior diverticulum develops into the head of the pancreas. This bud rotates anteriorly and later fuses to achieve the relationship to the rest of the pancreas. Development of the pancreas in embryonic life requires a trophic stimulus from the associated mesenchyme. Under the influence of this mesenchyme the mature organ develops, being mainly composed of ductal, exocrine and endocrine cells. Exocrine and ductal pancreas are derived from the endoderm of the foregut. Recent evidence suggests that the endocrine cells derive also from the endoderm of the foregut as evidenced by the expression of the genes responsible for hormonal production. This challenges the theory that endocrine cells may originate from the neural crest cells (neuroectodermal) of the embryo reinforced by the enunciation of the amine precursor uptake decarboxylase (APUD) theory.
1- Debas HT: Molecular Insights into the Development of the Pancreas. Am J Surg 174(3): 227-231, 1997
2- Madsen OD,  Jensen J,  Blume N,  Petersen HV,  Lund K,  Karlsen C,  Andersen FG,  Jensen PB,  Larsson LI, Serup P: Pancreatic development and maturation of the islet B cell. Studies of pluripotent islet cultures. Eur J Biochem 15;242(3):435-45, 1996
3- Slack JM:  Developmental biology of the pancreas. Development 121(6):1569-80, 1995

Volume 10 No 02 FEBRUARY 1998

Thyroid Nodules: FNAB

The need to differentiate malignant from benign thyroid nodules is the most challenging predicament in management.Present diagnostic work-up consists of ultrasonography (US), radionuclear scans (RNS) and fine-needle aspiration biopsy (FNAB). After reviewing our ten-year experience with twenty-four pediatric thyroid nodules we found nineteen benign and five malignant lesions. Benign nodules were soft, movable, solitary and non-tender. Malignant nodules were found during late adolecence, characterized by localized tenderness, a multigandular appearance and fixation to adjacent tissues. US and RNS were of limited utility since malignancy was identified among cystic and hot nodules respectively. Suppressive thyroid hormone therapy was useless in the few cases tried. FNAB in eighteen cases did not limit the number of thyroid resections. It showed that the probability that a malignant nodule had suspicious or frankly malignant cytology was 60%. The specificity was 90%. This is the result of a higher number of patients with follicular cell cytology in the aspirate. No attempts should be made to differentiate follicular adenoma from carcinoma since capsular and vascular invasion cannot be adequately assessed by FNAB.The physical exam findings, persistence of the nodule, progressive growth and cosmetic appearance were the main indications for surgery. FNAB is a safe procedure that plays a minor role in the decision to withhold surgery. Its greatest strength is to anticipate in case of malignancy that a more radical procedure is probably needed. FNAB, US and RNS should not replace clinical judgement or suspicion as the most important determinants in management.

1- Lugo-Vicente HL: Pediatric Thyroid Nodules: Management in the era of FNA (submitted for publication).
2- Lugo-Vicente HL: Pediatric Thyroid Nodules: Insights in Management (in press).

Li-Fraumeni Syndrome

The Li-Fraumeni familial cancer syndrome is manifested by increased susceptibility of affected relatives to develop a diverse set of  malignancies during early childhood. The major features of the syndrome include breast cancer, sarcomas of soft tissue and bone, brain tumor, leukemia and adrenal cortical carcinoma. More than one-half of the cancers overall and nearly one-third of the breast cancers were diagnosed before 30 years of age. Among females, breast cancer is the most common. Germline mutations within a defined region of the p53 gene have been found in families with the Li-Fraumeni syndrome. Persistence of the mutation in the germline suggests a defect in DNA repair in the family member first affected. Asymptomatic carriers of p53 germline mutation needs closed evaluation and follow-up for early detection and treatment in case neoplasia develops.

1- Garber JE, Goldstein AM,  Kantor AF,  Dreyfus MG, Fraumeni JF Jr, Li FP: Follow-up study of twenty-four families with Li-Fraumeni syndrome. Cancer Res 51(22):6094-7, 1991
2- Santibanez-Koref MF, Birch JM, Hartley AL, Jones PH, Craft AW, Eden T,Crowther D, Kelsey AM, Harris M: p53 germline mutations in Li-Fraumeni syndrome.Lancet 338(8781):1490-1, 1991
3- Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Jones PH, Binchy A,Crowther D, et al:  Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54(5):1298-304, 1994
4- Frebourg T, Barbier N, Yan YX, Garber JE, Dreyfus M, Fraumeni J Jr, Li FP, Friend SH: Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. Am J Hum Genet 56(3):608-15, 1995
5- Strauss EA,  Hosler MR,  Herzog P, Salhany K, Louie R, Felix CA :Complex replication error causes p53 mutation in a Li-Fraumeni family. Cancer Res 55(15):3237-41, 1995

Omphalo-Mesenteric Remnants

Before placental circulation is established fetal nourishment occurs from the yolk sac through the omphalomesenteric duct. By the 5th to 7th intrauterine week the duct obliterates. Persistence of the duct might give rise to a wide spectrum of omphalomesenteric remnants (OMR). Most OMR are in the form of a Meckel's diverticulum toward the intestinal end. Other less OMR are in the form of a mucosa-lined sinus or blind pouch at the umbilicus, an umbilical polyp, an intra- or extraperitoneal cyst, a connective tissue cord, or a well-formed communication between the ileum and the umbilicus. Pluripotential ectopic tissues (gastric, duodenal, colonic or pancreatic) might be found within OMR causing further problems (bleeding, perforation, obstruction, intussusception). Clinically the infant manifests periumbilical reddening, ulceration, granuloma, fluid discharge (bowel content), or recurrent umbilical infections. Diagnosis should come to your mind with recurrent umbilical discharge, non-healing granuloma, cherry-red nodule, or a rosette-like opening. Differential diagnosis consists of local infection (omphalitis), urachal remnants, dermoid cysts or vascular malformations. Management is umbilical exploration and surgical excision after suspicion or radiographic diagnosis (US, sinogram) is established.

1-   Moore TC: Omphalomesenteric duct malformations. Semin Pediatr Surg 5(2):116-23, 1996
2- Mothes W: [Complications caused by remnants of the omphalomesenteric duct] Zentralbl Chir 115(22):1431-4, 1990
3- Jauniaux E, De Munter C, Vanesse M, Wilkin P, Hustin J: Embryonic remnants of the umbilical cord: morphologic and clinical aspects. Hum Pathol 20(5):458-62, 1989
4- Gaisie G, Curnes JT, Scatliff JH, Croom RD, Vanderzalm T: Neonatal intestinal obstruction from omphalomesenteric duct remnants. AJR Am J Roentgenol 144(1):109-12, 1985
5- Schärli AF: Vitello-intestinal disorders, In Neill V. Freeman's Surgery of the Newborn, Churchill Livingstone Ed, UK, 1994, pag. 243-255
6- Chapter 48: Disorders of the Umbilicus, In Marc I. Rowe's Essential in Pediatric Surgery, Mosby Publishers, USA, 1995, pag. 441-445

Volume 10 No 03 MARCH 1998

Hirschsprung's Disease

Hirschsprung's disease (HD) is the congenital absence of parasympathetic innervation of the distal intestine. Occurs one in 1000-1500 live births with a 4:1 male predominance; 96% are term and 4% prematures babies. Symptoms usually begin at birth with delayed passage of meconium. In some infants, the presentation is that of complete intestinal obstruction. Others have few symptoms until several weeks of age, when the classic symptom of constipation has its onset. Initial evaluation includes an unprepped barium enema (the first enema should be a barium enema!). The aganglionic rectum appears of normal caliber or spastic, there is a transition zone and then dilated colon proximal to the aganglionic segment. Rectal suction biopsy is then performed and the submucosal plexus is examined for ganglion cells. Difficulty in interpreting the specimen would require a full-thickness biopsy for definitive diagnosis. Conventional treatment requires performing a "leveling" colostomy in the most distal colon with ganglion cells present. Placement of the colostomy in an area of aganglionosis will lead to persistent obstruction. Once the child has reached an adequate size and age a formal pull-through procedure is done. Current preference is for Soave procedure (modified endorectal pull-through). A tendency toward primary pull-through without colostomy in early infancy is being reported along with a laparoscopic version of this procedure with a decrease in morbidity and hospital stay.

1- Brennan LP, Weitzman JJ, Swenson O: Pitfalls in the Management of Hirschsprung's Disease. J Pediatr Surg. 2(1): 112, 1967
2- Pierro A, Fasoli L, Kiely EM, Drake D, Spitz L: Staged pull-through for rectosigmoid Hirschsprung's disease is not safer than primary pull-through. J Pediatr Surg 32(3):505-9, 1997
3- Martucciello G: Hirschsprung's disease as a neurochristopathy. Pediatr Surg Int 12(1):2-10, 1997
4- Skinner MA: Hirschsprung's disease. Curr Probl Surg 33(5):389-460, 1996
5- Teitelbaum DH: Hirschsprung's disease in children. Curr Opin Pediatr 7(3):316-22, 1995
6- Rothenberg S,  Chang JH: Laparoscopic pull-through procedures using the harmonic scalpel in infants and children with Hirschsprung's disease. J Pediatr Surg 32(6):894-6, 1997
7- Georgeson KE, Fuenfer MM, Hardin WD: Primary laparoscopic pull-through for Hirschsprung's disease in infants and children. J Pediatr Surg 30(7):1017-21, 1995; discussion 1021-2

Asymptomatic Malrotation

Contrast studies often done for other reasons may disclose the presence of a rotational anomaly of the bowel in an asymptomatic child. This trigger the question whether surgery is needed to reduce the risk of volvulus (midgut infarction) in the life expectancy of the affected patient. To make a complete assessment of the rotational anomaly and know the location and existence of the duodeno-jejunal (Treitz) and ileo-cecal junctions an UGIS with follow-through and barium enema will be neccesary. If the rotational anomaly shows that these two junctions are near each other (narrowing of the mesenteric base) and proximal to the superior mesenteric artery the threat of volvulus becomes real and prophylactic Ladd's procedure should be offered. Ladd's procedure can be done laparoscopically. Patients with malrotation more likely have bands, mesenteric defects, foreshortened dorsal root and redundant leafs. Doppler color US or CT can tell whether there is an anatomic change in the position of the superior mesenteric vein that suggests volvulus. Children with non-rotation associated to a surgical condition (diaphragmatic hernia, abdominal wall defects, prune belly, etc.) benefits from the adhesions created during primary repair and seldom develop volvulus. The morbidity after a Ladds procedure might be significant in some patients.

1- Schey WL, Donaldson JS, Sty JR: Malrotation of Bowel: Variable Patterns with Different Surgical Considerations. J Pediatr Surg 28(1): 96-101, 1993
2- Zerin JM, DiPietro MA: Superior mesenteric vascular anatomy at US in patients with surgically proved malrotation of the midgut. Radiology 183(3):693-4, 1992
3- Feitz R, Vos A: Malrotation: The Postoperative Period. J Pediatr Surg 32 (9): 1322-1324,  1997
4- Gross E, Chen MK, Lobe TE: Laparoscopic evaluation and treatment of intestinal malrotation in infants. Surg Endosc 10(9):936-7, 1996
5- Chou CK, Mak CW, Hou CC, Chang JM, Tzeng WS: CT of the mesenteric vascular anatomy. Abdom Imaging 22(5):477-82, 1997
6- Long FR, Kramer SS, Markowitz RI, Taylor GE: Radiographic patterns of intestinal malrotation in children. Radiographics 16(3):547-56, 1996; discussion 556-60
7- Maxson RT,  Franklin PA, Wagner CW: Malrotation in the older child: surgical management, treatment, and outcome. Am Surg 61(2):135-8, 1995

Heterotaxia Syndrome

Helwig is credited with describing the Heterotaxia (Polysplenia) syndrome in 1929. The syndrome a defect of lateralization commonly thought of as "bilateral left sidedness" is highly variable in its anatomic expression. Is a rare congenital disorder characterized by abnormal viscero-vascular situs with either left or right isomerism that usually coincides with complex cardiac malformation. Consist of polysplenia, intestinal malrotation, absence of the inferior vena cava, situs inversus, preduodenal portal vein, abnormalities of the hepatic artery and cardiac defects. The syndrome frequently involves visceral disorders such as malposition, malrotation or malfixation of abdominal organs. Malrotation is the most frequent anomaly encountered and classically presents with duodenal obstruction during early infancy. Malfixation of the stomach might produce gastric volvulus. Management in this cases consist of both Ladd's procedure and gastropexy. The polysplenia syndrome is the most common extrahepatic anomaly found in association with Biliary Atresia. In no way the syndrome jeopardized the result of porto enterostomy in these children.

1- Helwig FC: Multiple spleen combined with other congenital abnormalities. Arch Pathol 8: 761-767, 1929
2- Vazquez J, Lopez Gutierrez JC, Gamez M, Lopez-Santamaria M, Murcia J, Larrauri J, Diaz MC, Jara P, Tovar JA: Biliary Atresia and the Polysplenia Syndrome: Its Impact on Final Outcome. J Pediatr Surg 30 (3): 485-487, 1995
3- Stewart DE, Steigman CK, Mahoney KJ, Signs MM, Cobb LM: Obstructive Jaundice Associated with Polysplenia Syndrome in an Older Child. J Pediatr Surg 27 (12): 1575-1577, 1992
4- Nakada K, Kawaguchi F, Wakisaka M, Nakada M, Enami T, Yamate N: Digestive Tract Disorders Associated with Asplenia/Polysplenia Syndrome. J Pediatr Surg 32(1): 91-94, 1997
5- Oleszczuk-Raschke K, Set PA, von Lengerke HJ, Troger J: Abdominal sonography in the evaluation of heterotaxy in children. Pediatr Radiol 25 Suppl 1:S150-6, 1995

VOLUME 10 No 04 APRIL 1998

Mediastinal Cysts

Mediastinal cysts identified in children are classified according to the compartment where they arise as: anterior (extends to the sternum, thoracic inlet and anterior border of the heart), middle (between anterior mediastinum and anterior borders of the vertebrae) or posterior mediastinum. Although usually asymptomatic, they require excision for purpose of diagnosis and avoidance of symptoms such as chest pain, airway obstruction, hemoptysis or dysphagia. Diagnosis can be accomplished with the use of CT-Scan, US and esophagogram. Some of the most common encounter cysts in the mediastinum are: bronchogenic cysts, neurenteric cysts, pericardial cysts, cystic hygroma, thymic  and dermoid cysts.
1- Mediastinal Masses: Marc Rowe's ‘Essential of Pediatric Surgery', Mosby Year Book Publishers, 1995, Chapter 31, pag 306-310
2- Robie DK, Gursoy MH, Pokorny WJ: Mediastinal Tumors - Airway Obstruction and Management. Sem Pediatr Surg 3(4): 259-266, 1994
3- Strollo DC, Rosado de Christenson ML, Jett JR: Primary mediastinal tumors. Part 1: tumors of the anterior mediastinum. Chest 112(2):511-22, 1997

Bronchogenic Cysts

Bronchogenic cysts (BC), first described in 1911, are benign congenital lesions of the respiratory tract that have the potential to develop complications creating a dilemma in diagnosis and treatment. BC are commonly located in the mediastinum (2/3) or lung parenchyma (1/3) arising from anomalous budding along the primitive tracheobronchial tube (foregut duplication errors). Other atypical locations are cervical, subcutaneous, paravertebral, etc. Contain mucoid material lined with ciliated columnar epithelium (bronchial glands, smooth muscle, cartilage) not communicating with the respiratory tract. Clinical presentation may range from prenatal diagnosis, asymptomatic (1/3) lesions identified during routine work-up to symptomatic (2/3) cases. Infants may show respiratory distress: cough, dyspnea, cyanosis, hemoptysis or dysphagia. Older children present with chest pain, non-productive cough or pulmonary infection. Diagnosis relies on chest films and CT-Scan. Bronchoscopy and barium swallow are not very useful. Infection, hemorrhage, erosion, malignant potential and expansion mandate surgical management consisting of thoracotomy with excision of the lesion if mediastinal in location, and segmentectomy or lobectomy for intraparenchymal cysts. Marsupialization is associated with recurrence.

1- Cartmill JA, Hughes CF: Bronchogenic cysts: a persistent dilemma. Aust N Z J Surg 59(3):253-6, 1989
2- Di Lorenzo M, Collin PP, Vaillancourt R, Duranceau A: Bronchogenic cysts.  J Pediatr Surg 24(10):988-91, 1989
3- Ribet ME, Copin MC, Gosselin B: Bronchogenic cysts of the mediastinum.  J Thorac Cardiovasc Surg 109(5):1003-10, 1995
4- dell'Agnola C, Tadini B, Mosca F, Colnaghi M, Wesley J: Advantages of prenatal diagnosis and early surgery for congenital cystic disease of the lung.  J Perinat Med 24(6):621-31, 1996
5- Nobuhara KK, Gorski YC, La Quaglia MP, Shamberger RC: Bronchogenic cysts and esophageal duplications: common origins and treatment.  J Pediatr Surg 32(10):1408-13, 1997

Neurenteric Cysts

The rare neurenteric cyst (NC), also call enterogenous or gastrogenous cysts, is a combination of an endodermal (duplication) cyst of foregut origin with a spinal canal dysraphism (cleft, hemivertebrae, spina bifida). NC represent failure of complete separation of the notochord from the foregut during the 3rd week of embryogenesis. NC are found in the posterior mediastinum, superior to the carina and to the right side. Symptoms of respiratory distress become obvious during the first months of life. Those lined with gastric epithelium might develop hemorrhage, ulceration or erosion. NC are either tubular or spherical, a minority communicating with the GI tract below the diaphragm. Respiratory distress, a posterior mediastinal mass and a thoracic vertebral defect in x-ray suggest the diagnosis. CT, MRI and myelography (intraspinal component) are precise. Therapy of choice is complete resection.

1- Alrabeeah A, Gillis DA, Giacomantonio M, Lau H: Neurenteric Cysts - A Spectrum. J Pediatr Surg 23 (8): 752-754, 1988
2- Gilchrist BF, Harrison MW, Campbell JR: Neurenteric Cyst: Current Management. J Pediatr Surg 25 (12): 1231-1233, 1990
3- Rizalar R;  Demirbilek S;  Bernay F;  Gurses N: A case of a mediastinal neurenteric cyst demonstrated by prenatal ultrasound. Eur J Pediatr Surg 5(3):177-9, 1995
5- Bilik R, Ginzberg H, Superina RA: Unconventional Treatment of neuroenteric Cyst in a Newborn. J Pediatr Surg 30 (1): 115-117, 1995
4- Nobuhara KK, Gorski YC, La Quaglia MP, Shamberger RC: Bronchogenic cysts and esophageal duplications: common origins and treatment.  J Pediatr Surg 32(10):1408-13, 1997

Thymic Cysts

Thymic cysts are benign lesion that can arise either aberrantly in the neck (laterally, deep to anterior border of sternocleidomastoid muscle) or in the anterior mediastinum. Believed to develop from remnants of thymic tissue that have failed to descend from the ventral wing of the third branchial pouch into the mediastinum during the 6th to 8th week of fetal life. Most cases in the neck produce no symptoms and usually appear incidentally between ages 6 and 8 years as a soft swelling in the anterior neck triangle rarely invading contiguous structures. Others children might develop respiratory distress, tracheal compression, swelling and enlargement due to hemorrhage or infection. Malignant transformation has also been documented. Preoperative diagnosis is seldom achieved as they are confused with branchial cleft cysts and cystic hygromas. Complete excision is management of choice.

1- Johnsen NJ, Bretlau P: Cervical thymic cysts. Acta Otolaryngol (Stockh) 82(1-2):143-6, 1976
2- Reiner M, Beck AR: Cervical thymic cysts in children. Am J Surg 139(5):704-7, 1980
3- Graeber GM, Thompson LD, Cohen DJ, Ronnigen LD, Jaffin J, Zajtchuk R: Cystic lesion of the thymus. An occasionally malignant cervical and/or anterior mediastinal mass.  J Thorac Cardiovasc Surg 87(2):295-300, 1984
4- Spigland N, Bensoussan AL, Blanchard H, Russo P: Aberrant Cervical Thymus in Children: Three Cases Reports and Review of the Literature. J Pediatr Surg 25(11): 1196-1199, 1990
5- Burton EM, Mercado-Deane MG, Howell CG, Hatley R, Pfeifer EA, Pantazis CG, Chung C, Lorenzo RL: Cervical thymic cysts: CT appearance of two cases including a persistent thymopharyngeal duct cyst. Pediatr Radiol 1995;25(5):363-5  

Volume 10 No 05 MAY 1998

CDH Study Group
by: Kevin Lally, MD

Repair of congenital diaphragmatic hernia (CDH) has changed from an emergent to a delayed procedure in the last decade. Lack of a large multi-center database has hampered progress in the management of CDH making determination of current standard difficult. The CDH Study Group was formed in 1995 to collect data from multiple institutions in North America, Europe and Australia. Participating centers completed a registry form on all live-born infants with CDH during 1995 and 1996. Demographic information, data about surgical management and outcome was collected. Sixty-two centers participated, with 461 patients entered. Overall survival was 280 of 442 patients (63%). The defect was left-sided in 78%, right-sided in 21% and bilateral in 1%. Subcostal approach was used in 91% of patients, with pleural drainage in 76%. A patch was used in 51% of the patients, with PTFE being the most commonly used material (81%). Mean operative time was 102 minutes, with an average blood loss of 14 cc (0-500 cc). A majority of patients underwent repair between 6 AM and 6 PM  (88%). 19% had surgical repair on ECMO at a mean time of 170 hours into the ECMO course (10 to 593 hours). Mean age at operation in patients not treated with ECMO was 73 hours (1 to 445 hours). The data indicates that prosthetic patching of the defect has become common, that after-hours repair is infrequent and that delayed operative repair has become the preferred approach in most centers. Furthermore, the mean survival of 63% indicates that despite decades of individual effort, the CDH problem is far from solved.

Duodenal Stenosis

Congenital partial obstruction of the duodenum can be either intrinsic (membrane, web or pure) or extrinsic (Ladd's bands, annular pancreas). A significant group (25-33%) is born with Down's syndrome. This does not entail a higher risk of early mortality unless associated with cardiac malformations. Other associated conditions are malrotation (midgut volvulus is rare due to absent bowel distension and peristalsis), biliary tract anomalies and Meckel's diverticulum. The diagnosis is suggested in utero by the double-bubble image on ultrasound. Vomiting is the most frequent presenting symptom. UGIS is diagnostic, showing a dilated stomach and first duodenal portion with scanty passage of contrast material distally. Management varies accordingly to the type of stenosis: Ladd's bands are lysed. Pure stenosis is opened longitudinally and closed transversely (Heineke-Mickulicz). Membranous stenosis is resected. Successful endoscopic membranectomy of duodenal stenosis has been reported. Duodeno-duodenostomy is the procedure of choice for annular pancreas. Diaphragms can rarely be double. Anastomotic malfunction requiring prolonged intravenous nutrition and hospitalization has prompted development of a diamond shape larger stoma. Tapering or plication of the dilated duodenum is another effective method of improving disturbed transit. Other complications after surgery are megaduodenum with blind loop syndrome, biliary reflux, cholestatic jaundice, delayed transit and bowel obstruction. Early mortality is associated to prematurity and associated malformations. Long-term follow-up is warranted to identify late problems.

1- Stauffer UG, Irving I: Duodenal Atresia and Stenosis - Long Term Results. Prog Pediatr Surg 10: 49-63, 1977
2- Okamatsu T, Arai K, Yatsuzuka M, et al: Endoscopic Membranectomy for Congenital Duodenal Stenosis in an Infant. J Pediatr Surg  24 (4): 367-368, 1989
3- Kimura K, Mukohara N, Nishijima E, et al: Diamond Shaped Anastomosis for Duodenal Atresia: An Experience with 44 patients over 15 years. J Pediatr Surg 25 (9): 977-979, 1990
4- Spigland N, Yazbeck S: Complications Associated with Surgical treatment of Congenital Intrinsic Duodenal Obstruction. J Pediatr Surg 25 (11): 1127-1130, 1990
5- Stringer MD, Brereton RJ, Draje DP, et al: Double Duodenal Atresia/Stenosis: A Report of Four Cases. J Pediatr Surg 27 (5): 576-580, 1992
6- Samuel M, Wheeler RA, Mami AG: Does Duodenal Atresia and Stenosis Prevent Midgut Volvulus in Malrotation? Eur J Pediatr Surg 7:11-12, 1997
7- Takahashi A, Tomomasa T, Suzuki N, et al: The Relationship Between Disturbed Transit and Dilated Bowel, and Manometric Findings of Dilated Bowel in Patients with Duodenal Atresia and Stenosis. J Pediatr Surg 32 (8): 1157-1160, 1997

Bile Peritonitis

Bile peritonitis has been reported after conservative management of blunt hepatic trauma. The source is a major bile duct or peripheral injury. Diagnosis may be delayed for several days when the child insidiously develops symptoms of abdominal pain, jaundice and fever. CT-Scan shows the liver fracture with abdominal effusion. ERCP can rule out the extrahepatic origin of the problem. Percutaneous drainage with  antibiotic has been successful management with peripheral liver injuries. Most cases explored will need cholangiography to identify a major extrahepatic bile duct injury.

1- Poli ML, Lefebvre F, Ludot H, Bouche-Pillon MA, Daoud S, Tiefin G: Nonoperative management of biliary tract fistulas after blunt abdominal trauma in a child. J Pediatr Surg 30(12):1719-21, 1995
2- Berman SS, Mooney EK, Weireter LJ Jr: Late fatal hemorrhage in pediatric liver trauma. J Pediatr Surg 27(12):1546-8, 1992
3- Oldham KT, Guice KS, Ryckman F, Kaufman RA, Martin LW, Noseworthy J: Blunt liver injury in childhood: evolution of therapy and current perspective. Surgery 100(3):542-9, 1986
4- Barker SL, Fromm D: Bile peritonitis following expectant management of liver fracture. N Y State J Med 87(10):565-7, 1987

VOLUME 10 No 06 JUNE 1998

Imperforate Hymen

During infancy an imperforate hymen (IH) might produce a mucocolpos, and if not corrected by puberty a hematocolpus or hydrometrocolpus. As the vagina and uterus fills the hymen membrane distends and bulges, protruding as a globular mass beyond the introitus (yellowish or grayish white).  IH results when mesoderm of the primitive streak abnormally invades the urogenital portion of the cloacal membrane. Clinically the infant presents with an abdomino-pelvic mass, constipation, symptoms of urinary retention and dilatation of the upper urinary tract. Other times amenorrhea during early adolescence might be uncovered an IH. Differential diagnosis includes: labial adhesions, vaginal agenesis, vaginal cyst, ectopic ureter, prolapse urethra and ureterocele. US and MRI are useful diagnostic studies. Diagnosis can be made prenatally as early as the second trimester of pregnancy. IH must be corrected by surgery when discover. At the time of surgery the urethra is inspected and catheterized, the IH incised and the vagina evacuated. Cut edges are sutured to the vagina mucosa.

1- Congenital Anomalies of the Female Genitalia, In Huffman, Dewhurst & Capraro "The Gynecology of Childhood and Adolescence", WB Saunders, 2nd edition, 1981, pag 156-159
2-  Peterson-Sweeney KL, Stevens J: 13-year-old female with imperforate hymen. Nurse Pract 21(8):90-4, 1996
3- Loscalzo IL, Catapano M, Loscalzo J; Sama A: Imperforate hymen with bilateral hydronephrosis: an unusual emergency department diagnosis. J Emerg Med 13(3):337-9, 1995
4- Winderl LM, Silverman RK: Prenatal diagnosis of congenital imperforate hymen. Obstet Gynecol 85(5 Pt 2):857-60, 1995
5- Bejanga BI: Hematocolpos with imperforate hymen. Int Surg 63(2):97-9, 1978
6- Reynolds M: Neonatal Disorders of the External Genitalia and Vagina. Sem Pediatr Surg 7(1): 2-7, 1998

Esophageal Perforation

Most esophageal perforation in newborns occurs in the cervical portion while trying to intubate the trachea (iatrogenic). Injury produced by laryngoscope blades, pharyngeal suction catheters, nasogastric and endotracheal tubes are generally unrecognized until the baby develops signs of esophageal obstruction mimicking esophageal atresia (excessive salivation, cyanotic spells, and regurgitation upon feeding), radiographic evidence of pharyngeal perforation (usually in the posterior mediastinum) or a right-sided pneumothorax. The child most at risk is the small for gestational age or premature baby. Types of injuries identified: 1) pharyngeal pseudodiverticulum, 2) mucosal perforation posteriorly and parallel to the esophagus, and 3) intrapleural perforation. Diagnosis can be strongly suspected from the findings on the chest x ray or confirmed by performing an esophagogram (‘double esophagus' sign). Management depends on extent and location of injury. Overall, perforations of the pharynx and esophagus in neonates can be satisfactorily managed medically with antibiotics and parenteral nutrition except in cases that require mediastinal decompression or chest tube placement. Fluoroscopically placed NG tubes will allow gastric feedings. Key to prevention: use of soft-tipped suction catheters and nasogastric tubes and careful visualization of the cords during endotracheal intubation. Metal stylets to direct endotracheal tubes are dangerous. Perforations in older infants and children are associated to foreign body, esophageal dilatation, trauma or lye ingestion dealt depending on their causative factor.

1- Lee SB, Kuhn JP: Esophageal perforation in the neonate. A review of the literature. Am J Dis Child 130(3):325-9, 1976
2- Touloukian RJ, Beardsley GP, Ablow RC, Effmann EL: Traumatic perforation of the pharynx in the newborn. Pediatrics 59 Suppl(6 Pt 2):1019-22, 1977
3- Grunebaum M, Horodniceanu C, Wilunsky E, Reisner S: Iatrogenic transmural perforation of the oesophagus in the preterm infant. Clin Radiol 31(3):257-61, 1980
4- Mollitt DL, Schullinger JN, Santulli TV: Selective management of iatrogenic esophageal perforation in the newborn. J Pediatr Surg 16(6):989-93, 1981
5- Johnson DE, Foker J, Munson DP, Nelson A, Athinarayanan P, Thompson TR: Management of esophageal and pharyngeal perforation in the newborn infant. Pediatrics 70(4):592-6, 1982
6- Blair GK, Filler RM, Theodorescu D: Neonatal pharyngoesophageal perforation mimicking esophageal atresia: clues to diagnosis. J Pediatr Surg 22(8):770-4, 1987
7- Krasna IH, Rosenfeld D, Benjamin BG, Klein G, Hiatt M, Hegyi T: Esophageal Perforation in the Neonate: An Emerging Problem in the Newborn Nursery. J Pediatr Surg 22(8): 784-790, 1987
8- Engum SA, Grosfeld JL, West KW, Rescorla FJ, Scherer LR, Vaughan WG: Improved survival in children with esophageal perforation. Arch Surg 131(6):604-10; discussion 611, 1996


Thought to arise from the germ cells of the sexually indifferent stages of gonadogenesis, this malignant ovarian tumor is equivalent to the seminoma of testes in males. Occur most often in adolescents (60% of dysgerminoma develops during the first two decades of life), as a rapidly growing asymptomatic heavy solid pelvic mass. Grossly characterized as a smooth surface, nodular, encapsulated solid tumor. Rarely, they may secrete hormones (gonadotropin, PTH-like substance) producing sexual precocity or hypercalcemia. Unilateral salpingo-oophorectomy is adequate surgery if the tumor is unilateral, encapsulated, mobile, the opposite ovary is normal, there is no ascites and the retroperitoneal nodes are not enlarged or abnormal. Ascites, bilateral tumors and evidence of extension are bad prognosis signs and should be managed by total abdominal hysterectomy and bilateral salpingo-oophorectomy with irradiation. Recurrence of the tumor during the first two years after treatment is an ominous sign. Teratomatous or trophoblastic foci heralds a bad prognosis.

1- Tumors of the Sexual Organs, In Altman & Schwartz ‘Malignant Diseases of Infancy, Childhood and Adolescence', WB Saunders, 2nd ed, 1983, pag 494-495
2- Ovarian Tumors in Children and Adolescent, In Huffman's ‘The Gynecology of Childhood and Adolescence', WB Saunders, 2nd ed, 1981, pag 315-317
3- Adkins JC: Malignant Ovarian and Other germ Cell Tumors. In D.M. Hays ‘Pediatric Surgical Oncology', Grune & Stratton, 1986, pag 127-128
4- Anstey A,Gowers L,Vass A,Robson AO: Ovarian dysgerminoma presenting with hypercalcaemia. Case report and review of the literature. Br J Obstet Gynaecol 97(7):641-4, 1990
5- Wu PC,Huang RL,Lang JH, Huang HF, Lian LJ; Tang MY: Treatment of malignant ovarian germ cell tumors with preservation of fertility: a report of 28 cases. Gynecol Oncol 40(1):2-6, 1991

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