PEDIATRIC SURGERY UPDATE ©
VOLUME 12, 1999
Volume 12 No 01 JANUARY 1999
Biliary Hypoplasia
Biliary hypoplasia is a rare cause of persistent neonatal conjugated
hyperbilirubinemia. Pathologically, affected children have absent or reduced
number of bile ductules with normal distribution of branches of the portal
vein and hepatic artery within the liver parenchyma. Biliary hypoplasia
is also identified as paucity of interlobular bile ducts (PILBD). Two types
of PILBD are recognized: 1) syndromic (arteriohepatic dysplasia or Alagille's
syndrome) with characteristic extrahepatic abnormalities (fascial appearance,
pulmonic artery stenosis, vertebral anomalies, embryotoxon and delayed
weight-height development), and 2) non-syndromic biliary hypoplasia. Biliary
hypoplasia is clinically indistinguishable from biliary atresia and can
sometimes be confused. A definitive diagnosis is difficult to make in early
infancy. Differentiation between biliary atresia, hypoplasia and neonatal
hepatitis continues to require direct visualization of the biliary ducts.
This mean laparoscopic or open intra-operative cholangiography and liver
biopsy. The cholangiogram will show diminutive intra- and extra-hepatic
biliary tree. Attempts to establish biliary flow by means of hepatic porto-enterostomy
(Kasai procedures) in children with PILBD have been unsuccessful and contraindicated.
Management is conservative and include predigested formulas, ursodeoxycholic
acids (10 mg/kg/day), phenobarbital and A,D,K,E vitamin replacement. Non-syndromic
PILBD have better long-term prognosis. Children with syndromic PILBD identified
in infancy because of cholestasis have a 50% probability of long-term survival
without liver transplantation.
References
1- Cynamon HA, Powell GK, Isenberg JN, Lobe TE: Support
for a conservative approach to mixed intrahepatic and extrahepatic biliary
hypoplasia. J Pediatr Surg 22(11):1031-2, 1987
2- Schwartz MZ: An alternate method for intraoperative
cholangiography in infants with severe obstructive jaundice. J Pediatr
Surg. 20(4): 440-442, 1985
3- Kahn E, Daum F: Arteriohepatic dysplasia (Alagille's
syndrome): a common cause of conjugated hyperbilirubinemia. Ann Clin Lab
Sci 14(6):480-6, 1984
4- Kahn EI, Daum F, Markowitz J, Aiges HW, Schneider
KM, So HB, Altman P, Chandra RS, Silverberg M: Arteriohepatic dysplasia.
II. Hepatobiliary morphology. Hepatology 3(1):77-84, 1983
5- Lugo-Vicente HL: Biliary Atresia: An Overview. Bol
Asoc Med PR 87(7-9): 147-153, 1995
6- Hoffenberg EJ, Narkewicz MR, Sondheimer JM, Smith
DJ, Silverman A, Sokol RJ: Outcome of syndromic paucity of interlobular
bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J
Pediatr 127(2):220-4, 1995
Lumbar Hernias
Congenital lumbar hernias are rare abdominal parietal defects in infants
and children. Approximately 10% of all lumbar hernias are congenital and
the vast majority are unilateral. They have been divided in three categories:
1) superior - occurring in the superior lumbar triangle (Grynfelt-Lesshaft),
2) inferior - occurring through the inferior lumbar triangle (Petit) or
3) a combination of them. They have a well-defined fascial defect. Acquired
lumbar hernias outnumber congenital hernias and may result from surgery,
infection and/or trauma. Since the hernia defect enlarges with growth or
have the potential to incarcerate early operative repair is preferred.
Lumbar hernias are associated to the lumbo-costo-vertebral syndrome (caudal
regression anomalies, diaphragmatic hernia, ureteropelvic junction
obstruction, cloacal exstrophy and lipomeningocele). Repair of small defects
can be accomplished by primary closure. Large and recurrent defects may
need gortex patching. When they include a more extensive deficiency of
the entire lateral abdominal wall extending to the rectus sheath and inguinal
ligament closure may also need prosthetic material.
References
1- Somuncu S, Bernay F, Rizalar R, Ariturk E, Gunaydin
M, Gurses N: Congenital lumbar hernia associated with the lumbocostovertebral
syndrome: two cases. Eur J Pediatr Surg. 7(2)122-124, 1997
2- Fakhry SM, Azizkhan RG: Observations and current operative
management of congenital lumbar hernias during infancy. Surg Gynecol Obstet.
172(6)475-479, 1991
3- Pul M, Pul N, Gurses N: Congenital lumbar (Grynfelt-Lesshaft)
hernia. Eur J Pediatr Surg. 1(2)115-117, 1991
4- Hancock BJ, Wiseman NE: Incarcerated congenital lumbar
hernia associated with the lumbocostovertebral syndrome. J Pediatr Surg.
23(8)782-783, 1988
5- Mehta MH, Patel RV, Mehta SG: Letter to the editor.
J Pediatr Surg 27(9)1258-1259, 1992
Castleman's Disease
Castleman's disease (CD) also known as angiofollicular lymph node hyperplasia
is a benign disorder characterized by enlarged hyperplastic lymph nodes
that occurs very rarely in children. Two classes of CD are identified
in children: Hyaline-vascular (HV) type characterized by vascular proliferation
and hyalinization, and the plasma cell (PC) type characterized by mature
plasma cells in the interfollicular spaces with less vascular proliferation
(this type is most common in pediatric age). Its clinical presentation
is that of a slowly growing localized abdominal, chest (mediastinum or
lung hilum), or neck mass. Within the abdomen CD is located in the
small bowel mesentery. May be either asymptomatic or present systemic symptoms
of fever, malaise, increase ESR, thrombocytosis, anemia and hypergammaglobulinemia.
The enlarged nodes may mimic a malignant tumor of the lymphoid system.
Histopathological evaluation confirms the diagnosis. Surgical excision
of the mass and surrounding nodes involved is necessary to affect a cure.
References
1- Shroff VJ, Gilchrist BF, DeLuca FG, McCombs HL, Wesselhoeft
CW: Castleman's Disease Presenting as a Pediatric Surgical Problem. J Pediatr
Surg 30 (5): 745-747, 1995
2- Patel U, Forte V, Taylor G, Sirkin W: Castleman's
disease as a rare cause of a neck mass in a child. J Otolaryngol 27(3):171-3,
1998
3- Tuerlinckx D, Bodart E, Delos M, Remacle M, Ninane
J: Unifocal cervical Castleman disease in two children. Eur J Pediatr 156(9):701-3,
1997
4- Bapat KC, Malde HM, Pandit AA, Mittal BV, Kedar RP,
Bapat RD, Relekar RG: Solitary retroperitoneal angiofollicular lymph node
hyperplasia. J Postgrad Med 38(2):90-4, 1992
5- Salisbury JR: Castleman's disease in childhood and
adolescence: report of a case and review of literature. Pediatr Pathol
10(4):609-15, 1990
6- Powell RW, Lightsey AL, Thomas WJ, Marsh WL: Castleman's
disease in children. J Pediatr Surg 21(8):678-82, 1986
Volume 12 No 02 FEBRUARY 1999
Airway Foreign Bodies
Below the age of three foreign body (FB) aspiration or ingestion is
one of the leading causes of accidental death. Most FB that lodge in the
airway tree creates a ball-valve phenomenon in the affected bronchus that
allows bidirectional but unequal flow of air. Air flows preferentially
into the bronchus with inspiration and less is allowed to flow out during
expiration resulting in significant air-trapping and hyperinflation of
the affected lobe or lung. The mediastinum shifts to the opposite site
of the FB. Alternatively, with a total blockage of the bronchus there is
loss of volume with atelectasis and shift of the mediastinum to the same
side. Diagnosis relies on clinical judgment, history, physical exam and
radiographic evaluation. The child present with an aspiration event followed
by coughing, wheezing, dyspnea, fever, wheezing or decrease breath sounds
over the affected hemithorax. After chest films confirmation management
consists of rigid bronchoscopy for extraction of the FB. With history of
choking crisis and mild symptoms bronchoscopy should also be done. Peanuts,
corns, beans and seeds are the most common offending agents causing further
damage by virtue of an associated inflammatory reaction. A forceps during
bronchoscopy will help extracted most FB. Other times a fogarty retraction
is needed in case of segmental bronchus position. Longstanding foreign
body in the airway may be responsible for irreversible complications (bronchiectasia).
References
1- Silva AB, Muntz HR, Clary R: Utility of conventional
radiography in the diagnosis and management of pediatric airway foreign
bodies. Ann Otol Rhinol Laryngol 107(10 Pt 1):834-8, 1998
2- Cataneo AJ, Reibscheid SM, Ruiz Junior RL, Ferrari
GF: Foreign body in the tracheobronchial tree. Clin Pediatr (Phila). 36(12):701-6,
1997
3- Barrios Fontoba JE, Gutierrez C, Lluna J, Vila JJ,
Poquet J, Ruiz-Company S: Bronchial foreign body: should bronchoscopy be
performed in all patients with a choking crisis? Pediatr Surg Int 12(2-3):118-20,
1997
4- Reilly J, Thompson J, MacArthur C, Pransky S, Beste
D, Smith M; Gray S, et al: Pediatric aerodigestive foreign body injuries
are complications related to timeliness of diagnosis. Laryngoscope
107(1):17-20, 1997
5- Black RE, Johnson DG, Matlak ME: Bronchoscopic removal
of aspirated foreign bodies in children. J Pediatr Surg 29(5):682-4, 1994
6- Menendez AA, Gotay Cruz F, Seda FJ, Velez W, Trinidad
Pinedo J: Foreign body aspiration: experience at the University Pediatric
Hospital. P R Health Sci J 10(3):127-33, 1991
Pulmonary Sequestration
Pulmonary sequestrations refer to masses of abnormal lung parenchyma
with anomalous systemic blood supply not communicating with the normal
tracheobronchial tree. The abnormal lung parenchyma may be Intralobar (IS)
or Extralobar Sequestration (ES). Intralobar is contained within
the visceral pleural of a lower lobe receiving the blood supply from the
abdominal aorta or other thoracic vessel. It is believed IS are acquired
postinfectious process due to their association with chronic recurrent
lung infection and reactive airway disease. ES is a congenital malformation
with variable ectopic blood supply (aorta) having its own pleural investment
separate from normal lung, containing typical features of CCAM-2 (40%)
and associated malformations (40%). Both types can have patent communication
with foregut. Prenatal diagnosis can be obtained with real-time US with
Doppler imaging (can cause fetal lung compression, mediastinal shifts and
hydrops). Postnatally, contrast-enhanced CT may establish the diagnosis
eliminating the need for more invasive imaging (arteriography). Most presents
in early infancy with a soft tissue opacity in the posterior basal segments
of the lung on simple chest films. Management consists of resection to
alleviate symptoms and avoid complications. ES can be managed with resection
alone, while IS needs lobectomy. Anecdotal cases of partial or total disappearance
of these masses while asymptomatic has been reported.
References
1- Garcia-Pena P, Lucaya J, Hendry GM, McAndrew PT, Duran
C: Spontaneous involution of pulmonary sequestration in children: a report
of two cases and review of the literature. Pediatr Radiol 28(4):266-70,
1998
2- Plattner V, Haustein B, Llanas B, Allos N, Vergnes
P, Heloury Y: Extra-lobar pulmonary sequestration with prenatal diagnosis.
A report of 5 cases and review of the literature. Eur J Pediatr Surg 5(4):235-7,
1995
3- Nuchtern JG, Harberg FJ: Congenital lung cysts. Semin
Pediatr Surg 3(4):233-43, 1994
4- Sade RM, Clouse M, Ellis FH Jr: The spectrum of pulmonary
sequestration. Ann Thorac Surg 18(6):644-58, 1974
Pectus Carinatum
Pectus carinatum (pigeon breast, keel chest) is an infrequent chest
wall deformity. Rarely produce cardio-respiratory derangements as the thoracic
cavity enlarges symmetrically with the defect. The child (most commonly
a boy in his early teens) will be brought by the parents because of cosmetic
and psychologic concerns. Satisfactory subjective long-term results of
most patients justify surgical correction. Repair is performed through
a transverse or submammary incision with subperiosteal resection of the
lower costal cartilages from sternum to costochondral junction bilaterally.
The sternum is fractured to straighten it and there no need for sternal
strut use in this deformity. Complications can include seroma, atelectasis
and pneumothorax. In a well-motivated, skeletally immature individual
body cast bracing can be an effective treatment for cosmetically displeasing
pectus carinatum.
References
1- Lacquet LK, Morshuis WJ, Folgering HT: Long-term results
after correction of anterior chest wall deformities. J Cardiovasc Surg
39(5):683-8, 1998
2- Fonkalsrud EW, Salman T, Guo W, Gregg JP: Repair of
pectus deformities with sternal support. J Thorac Cardiovasc Surg 107(1):37-42,
1994
3- Mielke CH, Winter RB: Pectus carinatum successfully
treated with bracing. A case report. Int Orthop 17(6):350-2, 1993
4- Shamberger RC, Welch KJ: Surgical correction of pectus
carinatum. J Pediatr Surg 22(1):48-53, 1987
5- Robicsek F, Cook JW, Daugherty HK, Selle JG: Pectus
carinatum. J Thorac Cardiovasc Surg 78(1):52-61, 1979
Volume 12 No 03 MARCH 1999
Asplenia
The absence of the spleen (asplenia) occurs after surgical removal,
following chronic conditions or congenital. Trauma is the most common cause
of removing the spleen in children and sickle cell disease is the most
common cause of functional asplenia in children. Congenital absence of
the spleen is usually associated with serious malformations, primarily
cardiovascular and abdominal heterotaxia. The spleen contributes importantly
to the normal and pathologic removal of blood cells from the circulation
and to defense against infection with encapsulated bacteria. Asplenia increases
the risk of fulminant bacteremia (post-splenectomy sepsis) and mortality
with these organisms. This risk is also increased by the underlying condition
that caused the removal of the spleen, i.e., trauma, malignancy or hematologic
disease. Several recommendations have been given when dealing with an asplenic
individual. These are to vaccinate the child against pneumococcus (Pneumovax
vaccine), hemophilus influenza type b and meningococcus. Regarding Pneumovax
use revaccination after 3-5 years is recommended for children with asplenia
who are 10 years of age or younger and for older children and adults who
were immunized at least five years before. Duration of vaccine-induced
antibodies is unknown but may be shorter than that in normal persons. Long-term
antimicrobial prophylaxis is also used. This carries the problem of compliance
and for how long. Significant febrile episodes should be managed aggressively,
and probably most important, the patient and family should be carefully
educated about this complication (name tag). Most deaths from hyposplenia-related
septicemia are preventable.
References
1- 1997 Red Book: Report of the Committee on Infectious
Disease of the American Academy of Pediatrics. 24th edition, pags. 56-58
2- Lane PA: The spleen in children. Curr Opin Pediatr
7(1):36-41, 1995
3- Sills RH: Splenic function: physiology and splenic
hypofunction. Crit Rev Oncol Hematol 7(1):1-36, 1987
4-Phoon CK; Neill CA: Asplenia syndrome: insight into
embryology through an analysis of cardiac and extracardiac anomalies. Am
J Cardiol 15;73(8):581-7, 1994
5- Styrt B: Infection associated with asplenia: risks,
mechanisms, and prevention. Am J Med 88(5N):33N-42N, 1990
Pancreas Divisum
Pancreas divisum (PD), believed the most common congenital anomaly of
the pancreas, is an embryologic variation of pancreas development where
the dorsal (Santorini) and ventral portions (Wirsung) ducts drain separately.
Diagnosis is made with ERCP (short duct of Wirsung that does not communicate
with main pancreatic duct of Santorini). Not everybody with this ductal
anomaly develops pancreatitis. Likewise with the minor papilla draining
the bulk of the pancreas in PD, a small orifice size (< 0.75 mm) plays
a role in outflow obstruction and development of pancreatitis. Children
with PD and recurrent episodes of pancreatitis will need endoscopic sphincterotomy
of the minor and sometimes major papilla. If not feasible technically,
surgical sphincteroplasty of both papillae along with cholecystectomy (bile
stasis leads to gallstones) is indicated. Intraoperative pancreatogram
will help determine if both papilla are stenotic. Once chronic pancreatitis
is established, ductal drainage or resection may be necessary.
References
1- O'Rourke RW, Harrison MR: Pancreas divisum and
stenosis of the major and minor papillae in an 8-year-old girl: treatment
by dual sphincteroplasty. J Pediatr Surg 33(5):789-91, 1998
2- Tagge EP, Tarnasky PR, Chandler J, Tagge DU, Smith
C, Hebra A, Hawes RH, Cotton PB, Othersen HB Jr: Multidisciplinary approach
to the treatment of pediatric pancreaticobiliary disorders. J Pediatr Surg
32(2):158-64, 1997
3- Sanada Y, Yoshizawa Y, Chiba M, Nemoto H, Midorikawa
T, Kumada K: Ventral pancreatitis in a patient with pancreas divisum. J
Pediatr Surg 30(5):665-7, 1995
4- Crombleholme TM, deLorimier AA, Way LW, Adzick NS:
The modified Puestow procedure for chronic relapsing pancreatitis in children.
J Pediatr Surg 25(7):749-54, 1990
5- Adzick NS, Shamberger RC, Winter HS, Hendren WH: Surgical
treatment of pancreas divisum causing pancreatitis in children. J Pediatr
Surg 24(1):54-8, 1989
6- Warshaw AL, Richter JM, Schapiro RH: The cause and
treatment of pancreatitis associated with pancreas divisum. Ann Surg 198(4):443-52,
1983
Meconium Peritonitis
Meconium peritonitis (MP) is a chemical peritonitis that occurs following
bowel perforation during fetal life. It is generally looked upon as benign,
resulting in no long-term sequelae. The peritonitis occurs when the meconium
leaves the bowel, enters the peritoneal cavity and spreads throughout causing
a sterile inflammatory reaction. Most common site of bowel perforation
is the distal ileum, and 50% of babies with MP develop intestinal
obstruction. Prenatal ultrasound findings include ascites, intraabdominal
masses, bowel dilatation and the development of intraabdominal calcifications.
Bowel disorders which lead to MP in utero are those resulting in bowel
obstruction and perforation, such as small bowel atresias, volvulus and
meconium ileus. MP can be divided into simple or complex. Cases with spontaneously
healed perforation (simple MP) need observation as they rarely develop
symptoms. Newborns with complex MP are born with bowel obstruction a/or
pseudocyst formation (localized collection of meconium contained in a cyst
made of fibrous granulation tissue). Complex MP needs surgical therapy.
References
1- Patton WL, Lutz AM, Willmann JK, Callen P, Barkovich
AJ, Gooding CA: Systemic spread of meconium peritonitis. Pediatr Radiol
28(9):714-6, 1998
2- Dirkes K, Crombleholme TM, Craigo SD, Latchaw LA,
Jacir NN, Harris BH, D'Alton ME: The Natural History of Meconium Peritonitis
Diagnosed in Utero. J Pediatr Surg 30(7): 979-982, 1995
3- Miller JP, Smith SD, Newman B, Sukarochana K: Neonatal
abdominal calcification: is it always meconium peritonitis? J Pediatr Surg
23(6):555-6, 1988
4- Olsen MM, Luck SR, Lloyd-Still J, Raffensperger JG:
The spectrum of meconium disease in infancy. J Pediatr Surg 17(5):479-81,
1982
5- Fujioka M, Bowen A: Cystic meconium peritonitis. Radiology
140(2):380, 1981
Volume 12 No 04 APRIL 1999
Gastro-Esophageal Reflux Disease
Gastro-esophageal reflux disease (GERD) has two distinct forms in children.
In infants, reflux causes delayed growth & development, recurrent respiratory
infections and life-threatening situations. Most symptoms resolve when
the valvular competence of the cardia develops in the second year of life.
Older children manifest symptoms of dysphagia and substernal burning. We
manage most children medically. Indications for surgery consist of failure
to thrive, esophagitis, stricture, chronic aspiration pneumonia, life-threatening
events and Barrett metaplasia changes. Children referred for surgery should
have an esophagogram, endoscopy, and evaluation of gastric emptying mechanisms
to document: magnitude of reflux, presence of pharyngeal incoordination,
dysmotility, strictures, malrotation, and grade of esophagitis. pH studies
and milk scans may farther find a cause and effect relationship between
reflux and respiratory problems. Surgical options consist of partial (Thal,
Boix-Ochoa, Toupe) or complete wrap (Nissen) fundoplasty reconstruction.
The procedure can be done open or laparoscopic. Those kids with delayed
gastric emptying will benefit from a gastric emptying procedure (pyloroplasty,
antroplasty). Neurologically impaired children referred for feeding gastrostomy
should undergo a similar work-up to identified potentially dangerous reflux
problems. Alternatively the gastrotomy can be constructed percutaneously
and the problems of GERD be assessed later in life. Neurologic status and
gastric emptying are major predictors of operative success.
References
1- Bustorff-Silva J, Fonkalsrud EW, Perez CA, Quintero
R, Martin L, Villeseñor E, Atkinson JB: Gastric Emptying Procedures
Decrease the Risk of Postoperative Recurrent Reflux in Children with Delayed
Gastric Emptying. J Pediatr Surg 34(1): 79-83, 1999
2- Chung DH, Georgeson KE: Fundoplication and gastrostomy.
Semin Pediatr Surg 7(4):213-9, 1998
3- Jolley SG: Gastroesophageal reflux disease as a cause
for emesis in infants. Semin Pediatr Surg. 4(3):176-89, 1995.
4- Hebra A, Hoffman MA: Gastroesophageal reflux in children.
Pediatr Clin North Am 40(6):1233-51, 1993
5- Jolley SG: Current surgical considerations in gastroesophageal
reflux disease in infancy and childhood. Surg Clin North Am 72(6):1365-91,
1992
6- Rode H, Millar AJ, Brown RA, Cywes S: Reflux strictures
of the esophagus in children. J Pediatr Surg 27(4):462-5, 1992
7- Pearl RH, Robie DK, Ein SH, Shandling B, Wesson DE,
Superina R, Mctaggart K, Garcia VF, O'Connor JA, Filler RM: Complications
of gastroesophageal antireflux surgery in neurologically impaired versus
neurologically normal children. J Pediatr Surg 25(11):1169-73, 1990
Laryngo-Treacheal Clefts
Laryngo-tracheal clefts (LTC) are rare congenital anomalies that can
involve the larynx or the laryngo-tracheal and esophageal wall. Subtypes
of LTC occur between the aerodigestive system and can be limited to the
larynx up to involve all the way to reach the carina or the right main
bronchus (Subtypes: type 1 to the cricoid, type 2 involving the cricoid,
type 3 in cervical trachea and type 4 into the thoracic trachea). LTC arises
from errors in chondrification and fusion of the laryngeal supporting cartilage
or tracheo-esophageal folds. LTC are associate to the "G" and Pallister-Hall
syndrome, to esophageal atresia and to anal malformations. As neonate they
present a hoarse cry, inability to handle secretions, cyanosis, choking,
coughing, stridor and recurrent pneumonia depending on the length of the
cleft. Diagnosis of LTC is made by endoscopy. Management of type 1 is conservative
or endoscopically depending on symptoms. For type 2 to 4 defects initial
tracheostomy for securing airway and gastrostomy for feeding is needed.
This is followed by repair of the LTC using an anterior laryngeal approach
for type 2 & 3 and combined cervico-thoracic approach for type 4 and
those associated with esophageal atresia. Morbidity (leaks, pharyngoesophageal
incoordination and reflux) and mortality is very high. Early suspicion
and diagnosis are crucial.
References
1- DuBois JJ, Pokorny WJ, Harberg FJ, Smith RJH: Current
Management of Laryngeal and Laryngotracheal Clefts. J Pediatr Surg 25(8):
855-860, 1990
2- Parsons DS, Stivers FE, Giovanetto DR, Phillips SE:
Type I posterior laryngeal clefts. Laryngoscope 108(3):403-10, 1998
3- Corbally MT, Fitzgerald RJ, Guiney EJ, Ward D, Blayney
A: Laryngo-tracheo-oesophageal cleft: a plea for early diagnosis. Eur J
Pediatr Surg 3(4):241-3, 1993
4- Robie DK, Pearl RH, Gonsales C, Restuccia RD, Hoffman
MA: Operative strategy for recurrent laryngeal cleft: a case report and
review of the literature. J Pediatr Surg 26(8):971-3, 1991
5- Myer CM 3d, Cotton RT, Holmes DK, Jackson RK: Laryngeal
and laryngotracheoesophageal clefts: role of early surgical repair. Ann
Otol Rhinol Laryngol 99(2 Pt 1):98-104, 1990
Wilms Genetics
Wilms tumor (WT) development involves at least three genes. The first
of these identified as WT1 is a suppressor gene mapped to a deletion of
chromosome 11p13 found in sporadic and heredofamilial cases. WT1 required
for normal renal development encodes a zinc finger binding protein that
is important in regulating the formation of the early nephron. Mutations
of WT1 are found in WT associated with aniridia, genitourinary defects
(hermaphroditism) and mental retardation. The second WT suppression gene
is WT2, known to be involved in the Beckwith Wiedemann locus located in
the 11p15 region. The WT3 locus is likely to be found in the long arm of
chromosome 16q and is suspected of tumor progression rather than initiation.
WT gemlike mutations will help determine if they are additional indicators
of clinical behavior and outcome.
References
1- Fleming S: Genetics of kidney tumors. Forum 8(2):176-84,
1998
2- Haase GM; Ritchey ML: Nephroblastoma. Semin Pediatr
Surg 6(1):11-6, 1997
3- Feinberg AP: Multiple genetic abnormalities of 11p15
in Wilms' tumor. Med Pediatr Oncol 27(5):484-9, 1996
4- Tay JS: Molecular genetics of Wilms' tumour. J Paediatr
Child Health 31(5):379-83, 1995
5- Coppes MJ, Haber DA, Grundy PE: Genetic events in
the development of Wilms' tumor. N Engl J Med 331(9):586-90, 1994
6- Slater RM, Mannens MM: Cytogenetics and molecular
genetics of Wilms' tumor of childhood. Cancer Genet Cytogenet 61(2):111-21,
1992
Volume 12 No 05 MAY 1999
Müllerian Inclusions
Inguinal hernia repair is the most common procedure performed in the
pediatric age group. Unintentional vas deferens injury has been reported
in as much as 1.5% of cases. Occasionally the pathologist will report glandular
or epithelial like structure in hernial sac tissue. These müllerian
inclusions remnants found in hernial sacs are a great cause of concern
since they can resemble and be confused with segments of vas deferens or
epididymis leading to the erroneous conclusion that a functional reproductive
structure has been disrupted. Müllerian inclusions can be identified
in 6% of hernial sacs, mostly in the prepubertal age child. These structure
are lined by ciliated columnar epithelial and surrounded by a rim of condensed
fibrous tissue of variable thickness. They arise from paratesticular embryonal
remnants. They are usually one or two, rounded, embedded in fibrous connective
tissue and associated with small blood vessels. Masson trichrome staining
will show that the connective tissue of the inclusion is composed of fibroblasts
without a smooth muscle component as seen in normal vas deferens. Size
is another factor as the mean remnant diameter is 0.17 to 0.19 mm, and
does not change significantly with age. Normal vas deferens diameter goes
from 0.69 to 1.5 mm. If the microscopic evaluation reports vas deferens
the possibility of surgical injury or duplication should be considered.
This issue should be discuss with the family and later evaluation for infertility
done.
References
1- Lugo-Vicente HL: The pediatric inguinal hernia: is
contralateral exploration justified? Bol Asoc Med P R 87(1-2):8-11, 1995
2- Walker AN, Mills SE: Brief Scientific Reports: Glandular
Inclusions in Inguinal Hernial Sacs and Spermatic Cords. Am J Clin Pathol
82:85-89, 1984
3- Tolete-Velcek F, Leddomado E, Hansbrough F,Thelmo
WL: Alleged resection of the vas deferens: medicolegal implications. J
Pediatr Surg 23:21-3, 1988
4- Popek EJ: Embryonal remnants in inguinal hernia sacs.
Hum Pathol 21(3):339-49, 1990
5- Gomez-Roman JJ, Mayorga M, Mira C, Buelta L, Fernandez
F, Val-Bernal JF: Glandular inclusions in inguinal hernia sacs: a clinicopathological
study of six cases. Pediatr Pathol 14(6):1043-9, 1994
6- Gill B, Favale D, Kogan SJ, Bennett B, Reda E, Levitt
SB: Significance of accessory ductal structures in hernia sacs. J Urol
148(2 Pt 2):697-8, 1992
7- Binderow SR, Shah KD, Dolgin SE: True duplication
of the vas deferens. J Pediatr Surg 28(2):269-70, 1993
Neuroblastoma Stage III
Neuroblastoma (NB) in early stages of development (stage I & II)
benefits from surgical excision. The role of surgery in the management
of neuroblastoma stage III tumor (tumor infiltrating across the midline
with or without lymph node involvement) is controversial. Many variables
enter the formula of determining risk of disease, i.e., age, site, stage,
N-myc status, DNA diploidy and Shimada classification to mention a few
of the most important. Some reports have independently found that stage
III managed initially with chemotherapy and radiotherapy and is responding
benefits from eventual complete tumor excision despite site, age or histology.
Complete surgical excision as determine by free margin of tissue has a
significant survival advantage overall. Preop chemotx converts a friable
tumor into a firmer, more mature and easily resectable tumor. Surgical
complications in advance stages are higher (bleeding, nephrectomy, adjacent
organ removal, infection). Some have found that complete resection is not
needed in biologically favorable children with NB less than one year of
age. Biologically unfavorable patients one year of age or greater who undergo
gross surgical resections has improved survival. Defining subgroups of
patient with poor prognostic biologic markers and histology to decide whether
surgery or bone marrow transplant is the next best option is pending trial
randomization and study.
References
1- Matthay KK, Perez C, Seeger RC, etal: Successful treatment
of stage III neuroblastoma based on prospective biologic staging: a Children's
Cancer Group study. J Clin Oncol 16(4):1256-64, 1998
2- Haase GM, O'Leary MC, Ramsay NK, et al: Aggressive
surgery combined with intensive chemotherapy improves survival in poor-risk
neuroblastoma. J Pediatr Surg 26(9):1119-23, 1991
3- Haase GM, Wong KY, deLorimier AA, Sather HN, Hammond
GD: Improvement in survival after excision of primary tumor in stage III
neuroblastoma. J Pediatr Surg 24(2):194-200, 1989
4- Powis MR, Imeson JD, Holmes SJ: The effect of complete
excision on stage III neuroblastoma: a report of the European Neuroblastoma
Study Group. J Pediatr Surg 31(4):516-9, 1996
5- Tsuchida Y, Yokoyama J, Kaneko M, etal: Therapeutic
significance of surgery in advanced neuroblastoma: a report from the study
group of Japan. J Pediatr Surg 27(5):616-22, 1992
6- Kaneko M, Iwakawa M, Ikebukuro K, Ohkawa H:
Complete resection is not required in patients with neuroblastoma under
1 year of age. J Pediatr Surg 33(11):1690-4, 1998
7- Kaneko M, Ohakawa H, Iwakawa M: Is extensive surgery
required for treatment of advanced neuroblastoma? J Pediatr Surg 32(11):1616-9,
1997
Piriform Sinus
Congenital piriform sinus fistulas or cysts are a cause of acute/ recurrent
suppurative thyroiditis or adenitis. Derived from the fourth pharyngeal
pouch (ultimobranchial body), almost all occur on the left side of the
neck. They present as a lateral cervical cyst or sinus anterior to the
sternocleidomastoid muscle. The fistulae arises from the hypopharynx and
end in or next to the thyroid lobe. Esophagoscopy can help visualized the
pyriform orifice connected to the cyst. CT-Scan suggests the diagnosis.
In the acute situation they may need incision and drainage to convert it
into a draining sinus, followed later by excision. As cysts they should
be removed completely. The side wall of the piriform sinus is opened with
the help of a laryngoscope and the bottom part of the mucosa of the sinus
transected with the internal orifice of the fistula, after which the fistula
is removed en bloc. Histology will show thyroid or thymic tissue in the
wall of the cyst.
References
1- Mouri N, Muraji T, Nishijima E, Tsugawa C: Reappraisal
of lateral cervical cysts in neonates: Pyriform Sinus Cyst as an Anatomy-based
Nomenclature. J Pediatr Surg 33(7): 1141-1144, 1998
2-Edmonds JL, Girod DA, Woodroof JM, Bruegger DE: Third
branchial anomalies. Avoiding recurrences.Arch Otolaryngol Head Neck Surg
123(4):438-41, 1997
3- Hashizume K, Kawarasaki H, Iwanaka T, Kanamori Y,Tanaka
K, Utsuki T, Komuro H, Uno K: A new operational approach for the piriform
sinus fistula. Surg Today 23(4):293-7, 1993
4- Boix-Ochoa J, Pumarola Segura F, Asensio Llorente
M: Piriform sinus fistula, a new disease. An Esp Pediatr 36(6):467-9, 1992
5- Miyauchi A, Matsuzuka F, Kuma K, Katayama S: Piriform
sinus fistula and the ultimobranchial body. Histopathology 20(3):221-7,
1992
6- Miyauchi A, Matsuzuka F, Kuma K, Takai S: Piriform
sinus fistula: an underlying abnormality common in patients with acute
suppurative thyroiditis. World J Surg 14(3):400-5, 1990
VOLUME 12 No 06 JUNE 1999
Tracheomalacia
Tracheomalacia refers to a structural/functional generalized or localized
weakness of the tracheal rings' support resulting in partial respiratory
obstruction. Most cases are associated with esophageal atresia and as such
flaccid tracheal development after external pressure from the dilated proximal
blind esophageal segment has been proposed as pathogenetic mechanism. Vascular
rings, prolonged ventilatory support and tracheotomy are secondary causes
of tracheomalacia. Most cases develop expiratory obstruction since only
the intrathoracic trachea if affected. The harsh barking cough is the most
characteristic initial symptom. Nutritional problems are the result of
difficulty breathing as cyanotic attacks might occur during feeding. Other
incitatory elements are intercurrent respiratory infections and aspiration.
Severe forms are characterized by life-threatening apneic spells, inability
to extubate the airways, and episodic pneumonia. A cough and wheeze may
progress to complete airway obstruction and cyanosis. Diagnosis is obtained
with simple lateral thoracic films (narrow slit-like appearance), bronchoscopy
during spontaneous breathing (antero-posterior narrowing in expiration),
cinetracheobronchography (allows extent of tracheal collapse) or cine CT
studies. Reflux must be rule out and manage aggressively. For mild to moderate
symptoms no management is necessary as the child will improve with time.
For severe life threatening tracheomalacia aortopexy must be undertaken.
Failed aortopexy may need tracheal reinforcement with autologous cartilaginous
grafts.
References
1- Spitz L and Phelan PD: Chap. 22 Tracheomalacia, In
Beasley SW, Myers NA and Auldist AW "Oesophageal Atresia", Chapman &
Hall Medical Publishers, New York, 1991, pags 331-340
2- Kimura K, Soper RT, Kao SCS et al: Aortosternopexy
for tracheomalacia following repir of esophageal atresia: Evaluation by
cine-CT and technical refinement. J Pediatr Surg 25:769-72, 1990
3- Cacciaguerra S, Bianchi A: Tracheal ring-graft reinforcement
in lieu of tracheostomy for tracheomalacia. Pediatr Surg Int 13(8):556-9,
1998
4- Greenholz SK, Karrer FM, Lilly JR: Contemporary surgery
of tracheomalacia. J Pediatr Surg 21(6):511-4, 1986
5- Messineo A, Filler RM: Tracheomalacia. Semin Pediatr
Surg 3(4):253-8, 1994
Munchausen
Munchausen by proxy (MBP) syndrome refers to a behavioral affected parent
or caretaker that fabricates or induces an illness in a child and persistently
seeks medical care. MBP affects children less than six years of age. The
working definitions for MBP are: illness in a child simulated or produced
by a parent, persistent presentation of the child for medical care, denial
of knowledge by the parent as to the etiology of the child's illness and
acute symptoms and signs in the child that abates when he is separated
from the instigator. The most common symptoms are: bleeding, seizures,
central nervous system depression, apnea, diarrhea and vomiting.
The perpetrator (mostly the mother) uses a variety of methods to obtain
this means: strangulation, poisoning, laxative administration, etc.
The most difficult issue is diagnostic confirmation, parental confrontation
and optimal medicolegal disposition of involved children. Secret video
telemetry, poisonous toxin screening and detailed past medical history
collection are useful. Children might have an unnecessary diagnostic tests
and operation (fundoplication, central venous catheter placement) before
establishing the diagnosis of MBP. When faced with a patient with enigmatic
signs and symptoms and a family with classic personality traits consider
the diagnosis. Disappearance of symptoms after removal of the suspected
perpetrator remains the key to diagnosis.
References
1- Lacey SR, Cooper C, Runyan DK, Azizkhan RG: Munchausen
syndrome by proxy: patterns of presentation to pediatric surgeons. J Pediatr
Surg 28(6):827-32, 1993
2- Rosenburg D: Web of deceit: A literature review of
Munchausen syndrome by proxy. Child Abuse Neg 11:547-563, 1987
3- Feldman KW, Hickman RO: The Central Venous Catheter
as a Source of Medical Chaos in Munchausen Syndrome by Proxy. J Pediatr
Surg 33(4): 623-627, 1998
4- Senocak ME, Turken A, Buyukpamukcu N: Urinary Obstruction
Caused by Factitious Urethral Stones: An amazing manifestation of Munchausen
syndrome by proxy. J Pediatr Surg 30(12): 1732-1734, 1995
Blue Rubber Bleb Nevus Syndrome
Blue rubber bleb nevus (BRBN) syndrome (also Bean's syndrome) is a rare
congenital condition characterized by the presence of multiple angiomatic
lesions in the skin (soft, rubbery, and compressible). They are associated
with similar lesions in other organs, namely the gastrointestinal tract
and oral cavity causing anemia through chronic bleeding or intussusception.
Skin or endoscopic biopsy reveals the lesions to be cavernous hemangiomas.
Clinically the child presents with hematemesis, melena and has multiple
bluish rubber bleb-like hemangiomas over the body, in the stomach, jejunum
and colon. The syndrome is likely caused by a gene mapping to chromosome
9p and shows autosomal dominant inheritance. Alpha-2a interferon therapy
has been found beneficial for relieving the life-threatening consumptive
coagulopathy associated with BRBN. The GI hemangiomas can be managed with
intermittent laser-steroid therapy. Therapy is mainly symptomatic directed
to complications.
References
1- McKinlay JR, Kaiser J, Barrett TL, Graham B: Blue
rubber bleb nevus syndrome. Cutis 62(2):97-8, 1998
2- Goraya JS, Marwaha RK, Vatve M, Trehan A: Blue rubber
bleb nevus syndrome: a cause for recurrent episodic severe anemia. Pediatr
Hematol Oncol 15(3):261-4, 1998
3- Kunishige M, Azuma H, Masuda K, Shigekiyo T, Arii
Y, Kawai H, Saito S: Interferon alpha-2a therapy for disseminated
intravascular coagulation in a patient with blue rubber bleb nevus syndrome.
A case report. Angiology 48(3):273-7, 1997
4- Dieckmann K, Maurage C, Faure N, Margulies A: Combined
laser-steroid therapy in blue rubber bleb nevus syndrome: case report and
review of the literature. Eur J Pediatr Surg 4(6):372-4, 1994
5- Oranje AP: Blue rubber bleb nevus syndrome. Pediatr
Dermatol 3(4):304-10, 1986
6- Browne AF, Katz S, Miser J, Boles ET Jr: Blue Rubber
Bleb Nevi as a cause of intussusception. J Pediatr Surg 18(1):7-9, 1983