PEDIATRIC SURGERY UPDATE ©
VOLUME 44, 2015
PSU Volume 44 No 01 JANUARY 2015
Testicular Sex Cord-Stromal Tumors
Testicular sex cord-stromal tumors (TSCS) are very rare in children
accounting for near 6-8% of all testicular neoplasms in the pediatric
age. TSCS main histological types include Leydig cell tumors, Sertoli
cell tumor, juvenile granulosa cell tumor and undifferentiated cell
tumors. Clinically they present as a painless testicular mass with
hormonal manifestation causing isosexual pseudoprecocity or estrogenic
manifestation occurring in up to 20% of all cases. TSCT does not have
an aggressive behavior being low-grade tumors. Malignancy is defined
when the tumor has lymphatic or vascular invasion, high mitotic index
and tumor necrosis. Age adjusted AFP should be negative in TSCS,
otherwise it's a germ cell tumor. Leydig cell tumors represent the most
common histologic type. They produce testosterone, hence precocious
puberty with elevated 17-ketosteroid levels occurs. When diagnosed
preop, testis-sparing enucleation may be considered because these
tumors tend to follow a benign course. Sertoli cell tumors are
diagnosed before one year of life, hormonal silent, occasionally
producing gynecomastia due to estrogen secretion. The clinical course
is usually benign in children less than five and they can also be
managed with testis-sparing surgery when diagnosed appropriately. Older
children should have a metastatic workup. Metastatic disease requires
aggressive surgical and adjuvant therapy. Children with large cell
calcifying Sertoli cell tumors are at risk for endocrine syndromes.
Granulosa cell tumors occur in neonates and can be associated with
ambiguous genitalia. They should be suspected in neonates with scrotal
swelling, normal age-adjusted AFP level, positive inhibin and a complex
cystic multiseptated hypoechoic mass in the ultrasound of the testis.
They can be managed with testis-sparing surgery. Undifferentiated
stromal tumors harbor malignant potential and prepubertal and
postpubertal males with these tumors should undergo a metastatic
evaluation.
References:
1- Acar C, Gurocak S, Sozen S: Current treatment of testicular sex
cord-stromal tumors: critical review. Urology. 73(6):1165-71, 2009
2- Schwentner C, Oswald J, Rogatsch H, Mikuz G, Bartsch G, Radmayr C:
Stromal testis tumors in infants. a report of two cases. Urology.
62(6):1121, 2003
3- Schultz KA, Schneider DT, Pashankar F, Ross J, Frazier L: Management
of ovarian and testicular sex cord-stromal tumors in children and
adolescents. J Pediatr Hematol Oncol. 34 Suppl 2:S55-63, 2012
4- Featherstone JM, Fernando HS, Theaker JM, Simmonds PD, Hayes MC,
Mead GM: Sex cord stromal testicular tumors: a clinical
series--uniformly stage I disease. J Urol. 181(5):2090-6, 2009
5- Goswitz JJ, Pettinato G, Manivel JC: Testicular sex cord-stromal
tumors in children: clinicopathologic study of sixteen children with
review of the literature. Pediatr Pathol Lab Med. 16(3):451-70, 1996
6- Cecchetto G(1), Alaggio R, Bisogno G, Virgone C, Dall'Igna P,
Terenziani M, Boldrini R, D'Onofrio V, Ferrari A, Bernini G: Sex
cord-stromal tumors of the testis in children. A clinicopathologic
report from the Italian TREP project. J Pediatr Surg. 45(9):1868-73,
2010
Covered Cloacal Exstrophy
Covered cloacal exstrophy (CCE) is a
very rare frequently misdiagnosed malformation found within the
spectrum of cloacal exstrophy requiring a high index of suspicion for
diagnosis. Low implantation of the umbilical cord in association with
separated pubic bones and an anorectal malformation (imperforate anus)
are the most common sign associated with a covered cloacal exstrophy.
Besides the anorectal malformation these patients also have an absent
bladder neck and short colon. Most children with CCE are females with a
single clitoris. Inspection of the perineum can discover a single large
orifice or four perineal orifices very close to each other. Separation
of the pubic bone can be seen at the physical exam seen as two mild
prominences away from the midline in the pubic area or in simple films.
There is a fibrous band between the separate pubic bones. The presence
of a large perineal orifice through which there is constant dribbling
of urine is another important sign to establish the diagnosis. There is
no abdominal wall defect present. The absence of bladder neck
associated with a very small bladder will require urinary
reconstruction with bladder augmentation and Mitrofanoff to keep dry
urine. Those cases with short colon unable to form solid stools will
need a permanent stoma reconstruction. If there is evidence of
well-formed solid stools, the child can undergo a pull through
procedure. During initial stoma creation no piece of colon should be
left attached to the urinary tract to take advantage of its water
absorptive capacity and avoid urine absorption and associated
hyperchloremic acidosis. Reconstruction of the GI tract takes
precedence over the urinary reconstruction. Indication for pull-through
depends on successful bowel management through the stoma, which depends
on the ability to form solid stools. To maximize this potential it is
crucial to use all available hindgut for the initial colostomy and
avoid use of colon for urologic or genital
reconstruction.
References:
1- *Bischoff A, Levitt MA, Breech L, Pena: Covered cloacal exstrophy--a
poorly recognized condition: hints for a correct diagnosis. J Pediatr
Surg. 48(12):2389-92, 2013
2- Weiss RE, Garden RJ, Cohen EL, et al. Covered exstrophy with sequestered colonic remnant. J Urol 150:185-7, 1993
3- Komura M, Tsuchida Y, Honna T, et al. Completely covered cloacal
exstrophy: recognition of a new clinical sub-entity. Pediatr Surg Int
8:157-61, 1993
4- Oshita M, Okazaki T, Lee KD, et al. Complete covered cloacal exstrophy. Pediatr Surg Int 23:1029-31, 2007
5- Levitt MA(1), Mak GZ, Falcone RA Jr, Pena: Cloacal
exstrophy--pull-through or permanent stoma? A review of 53 patients.J
Pediatr Surg. 43(1):164-8, 2008
6-Lund DP(1), Hendren WH: Cloacal exstrophy: a 25-year experience with 50 cases. J Pediatr Surg. 36(1):68-75, 2001
*Best review.
Angiomatoid Fibrous Histiocytoma
Angiomatoid fibrous histiocytoma (AFH)
is a soft tissue tumor with intermediate malignant potential that
occurs primarily in children, adolescent and young adults very rarely
encountered past the age of 40 years. The median age of presentation is
14 years accounting for 0.3% of all soft tissue neoplasms. It develops
as a slowly growing nodular, multinodular or cystic mass of the
hypodermis or subcutis occurring most commonly in the extremity of the
child. Local symptoms such as pain and tenderness are uncommon, but
systemic symptoms such as anemia, fever, malaise and weight loss are
occasionally encountered suggesting the production of cytokines by the
tumor. The diagnosis is rare made preoperatively. Imaging findings of
AFH are as nonspecific as its histogenesis. MRI demonstrates multiple
internal cystic areas, an enhancing fibrous pseudocapsule which is
markedly hypointense on T1- and T2WI, and foci of susceptibility
artifacts representing hemosiderin. The diagnosis of AFH is made
based on histopathology and immunohistology. AFH is generally firm and
circumscribed. The characteristic microscopic appearance includes
distributions of ovoid to spindle cells with bland, vesicular nuclei,
lymphoplasmacytic infiltrate with intervening blood-filled cystic
spaces, and a fibrous pseudocapsule. Immunohistochemistry variably
demonstrates positivity for desmin, CD68 and CD 99. Management of AFH
is surgical resection. Wide surgical excision with clear margins and
post-excisional monitoring is warranted. Most patients are free of
disease after local excision with a minority developing recurrent or
less commonly metastatic disease within two years after surgery. Local
recurrence can also be managed with radiation therapy.
References:
1- Cernik C, Channaiah D, Trevino J: Angiomatoid fibrous histiocytoma
in a six-year-old child. Pediatr Dermatol. 26(5):636-8, 2009
2- Qian X, Hornick JL, Cibas ES, Dal Cin P, Domanski HA: Angiomatoid
fibrous histiocytoma a series of five cytologic cases with literature
review and emphasis on diagnostic pitfalls. Diagn Cytopathol. 40 Suppl
2:E86-93, 2012
3- Bauer A, Jackson B, Marner E, Gilbertson-Dahdal D: Angiomatoid
fibrous histiocytoma: a case report and review of the literature.
J Radiol Case Rep. 6(11):8-15, 2012
4- Kao YC, Lan J, Tai HC, Li CF, Liu KW, Tsai JW, Fang FM, Yu SC, Huang
HY: Angiomatoid fibrous histiocytoma: clinicopathological and molecular
characterisation with emphasis on variant histomorphology. J Clin
Pathol. 67(3):210-5, 2014
5- Kaygusuz EI, Cetiner H, Yorganci C, Celayir A: A case report:
angiomatoid fibrous histiocytoma in a 6-year-old male and review of the
literature. Fetal Pediatr Pathol. 33(3):145-50, 2014
6- Huerter ME, Hammadeh R, Zhou Q, Riker AI: Recurrent angiomatoid
fibrous histiocytoma: a case report and review of the literature.
Ochsner J. 14(3):441-4, 2014
PSU Volume 44 No 02 FEBRUARY 2015
Reexpansion Pulmonary Edema
Reinflation of a collapsed lung in a
few cases can lead to pulmonary edema of the reexpanded lung.
This complication termed reexpansion pulmonary edema (RPE) may occur
after treatment of a lung that has collapsed after pneumothorax,
pleural effusion or thoracoscopic resection of a mediastinal tumor in
less than 1% of all cases. The clinical presentation of RPE is
characterized by a rapid onset of dyspnea and tachypnea with symptoms
developing upon one hour of reexpansion of the lung. Simple chest films
may reveal interstitial opacities, consolidations with air
bronchograms, and fissural inflammation. Risk factors for RPE includes
the degree and chronicity of lung collapse (usually greater than 72
hours), great amount of pleural air or fluid, high speed of
reexpansion, use of high negative pressure to do so, hypertension,
hypoxemia and previous lung disease. Severe RPE can lead to
bradycardia, hypotension, cardiopulmonary arrest, and death. RPE occurs
most frequently in a chronically collapsed lung, which is then rapidly
reinflated using high suction. The endpoint of the reexpansion injury
is an increase in permeability of the endovascular cells and increase
in hydrostatic pressure, which then leads to the pulmonary edema. Both
of them cause fluid and protein overflow into the pulmonary
interstitial space and alveoli, leading to pulmonary edema As a form of
prevention the use of immediate suction to a chest tube placed for
reexpanding a collapse lung after pneumothorax or effusion should be
avoided as this is a precipitant factor for development of RPE. It is
preferably that the lung reexpand more gradually. Treatment once RPE
occurs remains supportive. The cornerstone is positive-pressure
mechanical ventilation and utilization of positive end-expiratory
pressure (PEEP) to reexpand collapsed alveoli, increase functional
residual capacity, and reduce shunting. Treatment also may
include steroids, diuresis and vasopressor support. In the future, the
use of agents such as monoclonal antibody to IL-8 or XOD antagonists
may be useful for prevention or treatment of RPE.
References:
1- Paksu MS(1), Paksu S, Akgan M, Kalayca AG, Baysal K: Bilateral
reexpansion pulmonary edema associated with pleural empyema: a case
report. Eur J Pediatr. 170(9):1205-7, 2011
2- Jardine OS: Reexpansion pulmonary edema. Am J Dis Child. 145(10):1092-4, 1991
3- Kira S, Tozawa K, Sato M, Fukunaga T, Suzuki M: Suspected
reexpansion pulmonary edema during emergence from general anesthesia in
a child with developmental dysplasia of the hip. Paediatr Anaesth.
22(6):591-2, 2012
4- Neustein SM: Reexpansion pulmonary edema. J Cardiothorac Vasc Anesth. 21(6):887-91, 2007
5- Rodrigues AL(1), Lopes CE, Romaneli MT, Fraga Ade M, Pereira RM,
Tresoldi AT: Reexpansion pulmonary edema in children. Rev Paul Pediatr.
31(3):411-5, 2013
6- Kira S: Reexpansion pulmonary edema: review of pediatric cases. Paediatr Anaesth. 24(3):249-56, 2014
Turner Syndrome
Turner syndrome (TS), also known as
gonadal dysgenesis, is a fairly common chromosomal abnormality
occurring in females. It is characterized by short stature, web neck,
cubitus valgus, low hairline, short 4th and 5th metacarpals, sexual
infantilism, bilateral rudimentary streak gonads and primary amenorrhea
among other defects. Fifty percent of TS have sex chromosome monosomy
with a 45,X karyotype and the remaining patients have either mosaicism
with a 45,X cell line or a structural X anomaly. Girls with typical TS
with bilateral streak gonads are not at risk for development of
gonadoblastoma in their dysgenetic gonads and gonadectomy is not
indicated. In routine cytogenetic analysis the Y chromosome or
Y-specific sequence is present in 5 to 10% of patient with TS. A higher
incidence of Y-chromosome material has been reported when polymerase
chain reaction (PCR) and fluorescent in situ hybridization (FISH)
techniques are used in addition to peripheral blood karyotyping.
Dysgenetic gonads with the presence of a Y chromosome or translocated
fragment have a significant risk of developing germ cell tumors,
specifically gonadoblastoma, in their dysgenetic gonads. The risk
ranged between 25% and 75% and increases with advancing age.
Gonadoblastoma is the most commonly found tumor and considered an
in-situ neoplastic lesion with further risk for malignant
transformation to a dysgerminoma or another invasive germ cell tumor
(such as yolk sac tumor, embryonal cell carcinoma and malignant
teratoma). Gonadoblastoma is mostly seen in those TS with a 45,X/46,XY
karyotype. Prophylactic gonadectomy is currently recommended in all TS
patients with Y-chromosome material. Laparoscopic salpingo-oophorectomy
of the streak gonad is the preferred procedure. This approach
eliminates the complication of future ectopic tubal pregnancy along
with the possibility of tubal malignancy.
References:
1- Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E,
Strocchi S, Nicoletti A, Mencarelli F, Pittalis M, Forabosco A,
Cacciari E: Gonadoblastoma in Turner syndrome and Y-chromosome-derived
material. Am J Med Genet A. 135(2):150-4, 2005
2- Liu AX, Shi HY, Cai ZJ, Liu A, Zhang D, Huang HF, Jin HM: Increased
risk of gonadal malignancy and prophylactic gonadectomy: a study of 102
phenotypic female patients with Y chromosome or Y-derived sequences.
Hum Reprod. 29(7):1413-9, 2014
3- Sallai A, Salyom J, Dobos M, et al: Y-chromosome markers in Turner
syndrome: Screening of 130 patients. J Endocrinol Invest. 33(4):222-7,
2010
4- Oliveira RM, Verreschi IT, Lipay MV, et al: Y chromosome in Turner
syndrome: review of the literature. Sao Paulo Med J. 127(6):373-8 2009
5- Trabs RB, Hoepffner W, Bahligen U, Limbach A, Keller E, Schatz A,
Horn LC, Kiess W, Bennek J: Video-assisted gonadectomy in children with
Ullrich Turner syndrome or 46,XY gonadal dysgenesis. Eur J Pediatr
Surg. 14(3):179-84, 2004
6- Kanakatti Shankar R, Inge TH, Gutmark-Little I, Backeljauw PF:
Oophorectomy versus salpingo-oophorectomy in Turner syndrome patients
with Y-chromosome material: clinical experience and current practice
patterns assessment. J Pediatr Surg. 49(11):1585-8, 2014
Aortoesophageal Fistula
Aortoesophageal fistula (AEF) is a
very rare, serious and almost lethal condition in a child if not
diagnosed promptly and managed expedite. Foreign body ingestion remains
the commonest cause of AEF seen in children. AEF presents with the
classic triad of midthoracic pain, a small sentinel hemorrhage followed
later by an exsanguinating hemorrhage. Any child presenting with these
symptoms should be suspected of having an AEF until proven otherwise.
Most children presenting with an AEF will have had a congenital cardiac
or vascular anomaly which required surgical correction or have ingested
a foreign body such as fish bone, chicken bones or stuck button
batteries. The hemodynamic stability of the patient dictates whether
further diagnostic investigations are appropriate. Diagnosis can be
established using esophagoscopy, CT-angio Scan, conventional
arteriography or upper gastrointestinal contrast imaging. Temporary
control of the bleeding from an AEF can be obtained using
Sengstaken-Blakemore tube or bedside placement of an aortic occlusion
balloon until either diagnosis or definitive surgery can be performed.
Other temporizing measures to control hemorrhage include endovascular
stents, hemoclips at endoscopy, and radiographic embolization. Surgical
exploration of the thoracic esophagus and aorta with repair of the
fistula, preferably under cardiopulmonary bypass, remains the only hope
for cure and survival for children with AEF. In cases of stuck battery
in the esophagus, they should undergo emergency endoscopic removal and
inspection of the esophageal mucosa. Failure to remove batteries within
two hours can lead to esophageal necrosis and aortoesophageal fistulas.
The mortality of AEF is extremely high.
References:
1-Stuth EA, Stucke AG, Cohen RD, Jaquiss RD, Kugathasan S, Litwin SB:
Successful resuscitation of a child after exsanguination due to
aortoesophageal fistula from undiagnosed foreign body. Anesthesiology.
95(4):1025-6, 2001
2- Hill SJ, Zarroug AE, Ricketts RR, Veeraswamy R: Bedside placement of
an aortic occlusion balloon to control a ruptured aorto-esophageal
fistula in a small child. Ann Vasc Surg. 24(6):822.e7-9, 2010
3- Coates LJ, McNally J, Caputo M, Cusick E: Survival in a 2-year-old
boy with hemorrhage secondary to an aortoesophageal fistula. J Pediatr
Surg. 46(12):2394-6, 2011
4- Pae SJ, Habte SH, McCloskey JJ, Schwartz AJ: Battery ingestion
resulting in an aortoesophageal fistula. Anesthesiology. 117(6):1354,
2012
5- Panda SS, Agarwala S, Kabra SK, Ray R, Sugandhi N, Bhat AS, Lodha R,
Joshi P, Bisoi AK, Arora A, Gupta AK: Aortoesophageal fistula in
a child. J Indian Assoc Pediatr Surg. 18(3):124-6, 2013
6- Krieves MA, Merritt GR, Nichols CS, Schwartz LI, Campbell DN,
Bruny JL, Fagan TE, Thompson ME, Ing RJ: Aortoesophageal fistula
and coarctation of the aorta in a 15-year-old child. Semin Cardiothorac
Vasc Anesth. 17(4):294-7. 2013
PSU Volume 44 No 03 MARCH 2015
Prune Belly Syndrome
Prune belly syndrome (PBS) is a rare
malformation occurring one in 40,000 live births affecting almost
exclusively males (95%), and characterized by deficiency of the
abdominal muscles, malformations of the urinary tract and bilateral
cryptorchidism. The protruding hypoplastic abdominal wall looks like a
dried prune. The pathogenesis of PBS is nor fully understood.
Malformations of the urinary tract in PBS are due to dysplasia of the
smooth muscle of the renal pelvis, ureters and prostatic part of the
urethra. Three clinical manifestations are characterized in PBS:
non-viable oliguric form due to severe kidney dysplasia, a serious form
consisting of marked renal dysplasia with megaureters, mega-vesicles
and progressive renal failure or the more favorable form with moderate
renal dysplasia and different degrees of ureters and bladder
enlargement. Diagnosis can be made prenatally and clinically.
Orthopedic deformities (hip dysplasia, missing extremity, club feet)
are the second most common associated malformation. Anomalies of the GI
tract (malrotation, volvulus, atresia) occur in almost 30% of PBS.
Those with oligohydramnios develop pulmonary hypoplasia. Prenatal
vesicoamniotic shunt for urinary obstruction can prevent pulmonary
hypoplasia and renal dysplasia. The associated nephropathy is partly
dysplastic and obstructive. Cryptorchidism is present in almost all
cases, with favorable histology. Bladder capacity is enlarged with
detrusor muscle thickened and presence of vesicoureteral reflux.
Ureters are elongated, dilated with inefficient peristalsis. Treatment
of PBS encompasses preserving kidney function with temporary urinary
diversion and subsequent surgical reconstruction, reimplantation of
dilated ureters, orchidopexy and abdominoplasty. Timing of repair is
controversial and should be tailored on an individual basis following a
conservative approach. Abdominoplasty and orchiopexy have both
physiological and improved quality of life benefits. Renal failure is
main cause of death.
References:
1- Woods AG, Brandon DH: Prune belly syndrome. A focused physical assessment. Adv Neonatal Care. 7(3):132-43, 2007
2- Tonni G, Ida V, Alessandro V, Bonasoni MP: Prune-belly syndrome:
case series and review of the literature regarding early prenatal
diagnosis, epidemiology, genetic factors, treatment, and prognosis.
Fetal Pediatr Pathol. 31(1):13-24, 2013
3- Hassett S, Smith GH, Holland AJ: Prune belly syndrome. Pediatr Surg Int. 28(3):219-28, 2012
4- Tran S, Grossman E, Barsness KA: Prune belly syndrome, splenic
torsion, and malrotation: a case report. J Pediatr Surg. 48(2):e41-3,
2013
5- Zugor V, Schott GE, Labanaris AP: The Prune Belly syndrome:
urological aspects and long-term outcomes of a rare disease. Pediatr
Rep. 4(2):e20, 2012
6- Danes FT, Lopes RI, Oliveira LM, Tavares A, Srougi M: Modified
abdominoplasty for patients with the Prune Belly syndrome. Urology.
83(2):451-4, 2014
7- Ekwunife OH, Ugwu JO, Modekwe V: Prune belly syndrome: early
management outcome of nine consecutive cases. Niger J Clin Pract.
17(4):425-30, 2014
Poland Syndrome
Poland syndrome (PS) is a spectrum of
congenital chest wall deformities sporadic in occurrence
characterized by chest wall hypoplasia. This is caused by absence
of the pectoralis major, pectoralis minor, serratus anterior, rectus
abdominis and latissimus dorsi muscle. Other associated conditions
include athelia or amastia, nipple deformities, limb deformities
(syndactylism, brachydactyly), absent axillary hair and limited
subcutaneous fat. Severe (complex) cases include thoracic cage
anomalies, most frequently involving ribs II–V. The disease may
be inherited as an autosomal-dominant trait. Clinical manifestations of
PS are extremely variable and rarely are all the features recognized in
one individual. The right side is more commonly affected and is present
in males 70% of the time. The etiology of Poland syndrome is unknown
but might include abnormal migration of the embryonic tissues forming
the pectoralis muscle, hypoplasia of the subclavian artery or a
traumatic event in utero. Poland syndrome can occur in varying degrees
with mild hypoplasia to total aplasia of muscles, ribs and cartilage.
Surgical repair varies according to the extent of Poland syndrome, age
and sex of the patient. In girls chest wall reconstruction should
precede breast reconstruction. In the complex forms chest wall
reconstruction has traditionally been advocated with the use of
contralateral, autologous rib grafts stabilized with mesh. Recently the
vertical expandable prosthetic titanium rib expander has been reported
to stabilize the chest wall after rib grafting. Additional stages of
reconstruction include expanders, musculocutaneous flaps, breast
implants, nipple and areolar reconstruction and fat grafting. For
symmetry reasons surgery to the contralateral breast can be considered.
Reference:
1- Lieber J, Kirschner HJ, Fuchs J: Chest wall repair in Poland
syndrome: complex single-stage surgery including Vertical Expandable
Prosthetic Titanium Rib stabilization--a case report. J Pediatr Surg.
47(3):e1-5, 2012
2- Stephenson JT, Song K, Avansino JR, Mesher A, Waldhausen JH: Novel
titanium constructs for chest wall reconstruction in children. J
Pediatr Surg. 46(5):1005-10, 2011
3- Garg R, Saheer S, Gupta V, Mehra S: Poland sequence: Series of two
cases and brief review of the literature. Ann Thorac Med. 7(2):110-2,
2012
4- Dolas SC(1), Poovamma CU(1), Prema M(1), Khandelwal R(1), Pais
AV(1), Kaul A(2): Poland's syndrome: a case report with review of
literature regarding management. Breast Dis. 34(3):121-5, 2014
5- Chiummariello S, Pica A, Guarro G, Arleo S, Alfano C: Poland
syndrome: an algorithm to select the appropriate chest wall surgical
reconstructive treatment. Ann Ital Chir. 85(3):237-43, 2014
6- Rodriguez IE, Heare T, Bruny J, Deleyiannis FW: Customized Titanium
Implant for Chest Wall Reconstruction in Complex Poland Syndrome. Plast
Reconstr Surg Glob Open. 2(2):e112, 2014
Liposarcoma
Adipose tumors comprise 5% of all
soft-tissue neoplasm in children. Two-third are simple lipomas, 30%
lipoblastoma and the rest rare liposarcomas. Liposarcomas occur most
commonly in the 3rd to 7th decade of life with a slight predominance in
males. They are extremely unusual in children younger than 10 years. In
children liposarcoma occurs most commonly in the lower extremity, most
have tumors> 5 cm at initial presentation and metastatic disease at
the time of initial diagnosis is uncommon. Clinically they present as
nontender, slow and progressively growing soft-tissue mass. The myxoid
variant is the most common histologic variant of liposarcoma in
children. Histologic grade is one of the most important predictors of
outcome, with low-grade myxoid tumors having significantly improved
survival rates compared to the round-cell, pleomorphic, and
dedifferentiated subtypes. Complete surgical resection remains the
mainstay of local therapy, but adjuvant radiation therapy is effective
at controlling microscopic residual disease after surgical resection.
Myxoid tumors are radiosensitive and pre-, intra- and postoperative
radiation approach have been effective therapy. The role of
chemotherapy for treatment of pediatric liposarcoma is not well
established except a role in facilitating tumor resection in patients
with unresectable disease. The overall prognosis of myxoid liposarcoma
is excellent with surgical treatment alone. The pleomorphic subtype
portends a poorer prognosis.
References:
1- Miller GG, Yanchar NL, Magee JF, Blair GK: Lipoblastoma and
liposarcoma in children: an analysis of 9 cases and a review of
the literature. Can J Surg. 41(6):455-8, 1998
2- Chitnis M, Steyn T, Koeppen P, Breckon V, Lazarus C: Differentiation
of a benign myxolipoma from a myxoid liposarcoma by tumour
karyotyping--a diagnosis missed. Pediatr Surg Int. 18(1):83, 2002
3- ten Heuvel SE, Hoekstra HJ, van Ginkel RJ, Bastiaannet E, Suurmeijer
AJ: Clinicopathologic prognostic factors in myxoid liposarcoma: a
retrospective study of 49 patients with long-term follow-up. Ann Surg
Oncol. 14(1):222-9, 2007
4- Alaggio R, Coffin CM, Weiss SW, Bridge JA, Issakov J, Oliveira AM,
Folpe AL: Liposarcomas in young patients: a study of 82 cases occurring
in patients younger than 22 years of age. Am J Surg Pathol.
33(5):645-58, 2009
5- Huh WW, Yuen C, Munsell M, Hayes-Jordan A, Lazar AJ, Patel S, Wang
WL, Barahmani N, Okcu MF, Hicks J, Debelenko L, Spunt SL: Liposarcoma
in children and young adults: a multi-institutional experience. Pediatr
Blood Cancer. 15;57(7):1142-6, 2011
6- Schaefer IM, Fletcher CD: Myxoid variant of so-called angiomatoid
"malignant fibrous histiocytoma": clinicopathologic characterization in
a series of 21 cases. Am J Surg Pathol. 38(6):816-23, 2014
PSU Volume 44 No 04 APRIL 2015
Antibiotic-impregnated Catheters
Central venous catheter (CVC) and
peripherally inserted central catheters (PICC) are widely used in
intensive and high dependency care to provide venous access for drug
delivery, intravenous feeding, monitoring and blood sampling.
Nosocomial bloodstream infections are associated with increased
morbidity and mortality. CVC and PICC are the main source of nosocomial
bloodstream infection in critically-ill children. The main consequences
of catheter-related blood stream infections are increased costs due to
treatment, testing and prolonged duration of stay. This infection is
caused by colonization of the catheter during insertion or following
migration of organisms from the patient skin or from the hub or port of
the catheter into the intravascular part of the device. This risk is
higher in children receiving acute care and parenteral nutrition. The
best option for reducing catheter-related blood stream infection are
heparin-coated or antibiotic-impregnated central venous catheter. They
are impregnated with minocycline and rifampin due to their synergistic
action and potential to penetrate bacterial-secreted biofilm. In the
acute critical care setting, the introduction of antibiotic-impregnated
CVC/PICC are associated with a significant decrease in nosocomial
primary gram-positive and gram-negative bacteremia. This reduction of
nosocomial bacteremia is associated with a significant decrease in
catheter-related infections and cases of nosocomial multidrug-
resistant bacteremia as well as a significant decrease in the length of
hospital and ICU stay. In children with burns the uses of PICC are a
necessity to deliver crystalloids during the phase of resuscitation.
Almost 50% of these children develop bacteremia. Antibiotic-impregnated
PICC lines are five times more effective in decreasing catheter-related
bloodstream infection than maximal sterile barrier alone. They also
decrease the need for systemic antibiotic use in ICU. Cost saving using
CVC and PICC impregnated-catheters is significant.
References:
1- Schutze GE: Antimicrobial-impregnated central venous catheters. Pediatr Infect Dis J. 21(1):63-4, 2002
2- Hanna HA, Raad II, Hackett B, Wallace SK, Price KJ, Coyle DE,
Parmley CL; M.D. Anderson Catheter Study Group: Antibiotic-impregnated
catheters associated with significant decrease in nosocomial and
multidrug-resistant bacteremias in critically ill patients. Chest.
124(3):1030-8, 2003
3- Bhutta A, Gilliam C, Honeycutt M, Schexnayder S, Green J, Moss M,
Anand KJ: Reduction of bloodstream infections associated with catheters
in paediatric intensive care unit: stepwise approach. BMJ.
334(7589):362-5, 2007
4- Gilbert RE, Harden M: Effectiveness of impregnated central venous
catheters for catheter related blood stream infection: a systematic
review. Curr Opin Infect Dis. 21(3):235-45, 2008
5- Armstrong SD, Thomas W, Neaman KC, Ford RD, Paulson J: The impact of
antibiotic impregnated PICC lines on the incidence of bacteremia in a
regional burn center. Burns. 39(4):632-5, 2013
6- Baskin KM, Hunnicutt C, Beck ME, Cohen ED, Crowley JJ, Fitz CR:
Long-term central venous access in pediatric patients at high risk:
conventional versus antibiotic-impregnated catheters. J Vasc Interv
Radiol. 25(3):411-8, 2014
Handlebar Hernia
Traumatic abdominal wall hernia is
produced by sudden application of a blunt force that is insufficient to
penetrate the skin but strong enough to disrupt the muscle and fascia.
In combination with a direct blow to the abdominal wall a sudden
increase in intra-abdominal pressure may induce disruption of the
abdominal musculature and fascia with the skin remaining intact. These
traumatic abdominal wall hernias are categorized as Type 1: small
defect such as that caused from a bicycle handlebar, Type 2:
larger defect caused by high-energy transfer such as a motor vehicle
crash or fall, and Type 3: defects that involve intraabdominal bowel
herniation as described in deceleration injuries. Most traumatic
abdominal wall hernias in children are Type 1, also called handlebar
hernias. They occur in children between the ages of 5 and 14 years,
mostly males. A skin contusion or abrasion is identified in most cases.
The majority of handlebar hernias involved a lower abdominal wall
defect and they seldom are associated with another intraabdominal
injury. Diagnosis is made by history and physical examination (tender
bulge or swelling). Ultrasonography and CT-Scan are important
diagnostic imaging modalities utilized. Definitive management requires
surgical repair of the defect to prevent complications such as bowel
obstruction, incarceration, or strangulation with resultant bowel
ischemia. Repair is made with primary closure of all the tissue layers
or using prosthetic material if the defect is large. Whether to do a
formal exploratory laparotomy is debatable due to the low incidence of
associated intraabdominal injury found in review cases. In the setting
of blunt abdominal trauma, the role of diagnostic and therapeutic
laparoscopy is emerging as a reasonable initial option in management.
Laparoscopy provides evaluation of solid organ, diaphragmatic, small
bowel, mesenteric, and anterior abdominal wall injury.
References:
1- Chen HY, Sheu MH, Tseng LM: Bicycle-handlebar hernia: a rare
traumatic abdominal wall hernia. J Chin Med Assoc. 68(6):283-5, 2005
2- Haimovici L, Papafragkou S, Kessler E, Angus G: Handlebar hernia:
traumatic abdominal wall hernia with multiple enterotomies. A case
report and review of the literature. J Pediatr Surg. 42(3):567-9, 2007
3- Goliath J, Mittal V, McDonough J: Traumatic handlebar hernia: a rare
abdominal wall hernia. J Pediatr Surg. 39(10):e20-2, 2004
4- McKinley AJ, Mahomed AA: Laparoscopy in a case of pediatric blunt abdominal trauma. Surg Endosc. 16(2):358, 2002
5- Kubota A, Shono J, Yonekura T, Hoki M, Asano S, Hirooka S, Kosumi T,
Kato M, Oyanagi H: Handlebar hernia: case report and review of
pediatric cases. Pediatr Surg Int. 15(5-6):411-2, 1999
6- Iinuma Y, Yamazaki Y, Hirose Y, Kinoshita H, Kumagai K, Tanaka T,
Miyajima M, Nitta K, Naitoh S, Kobayashi K: A case of a traumatic
abdominal wall hernia that could not be identified until exploratory
laparoscopy was performed. Pediatr Surg Int. 21(1):54-7, 2005
Fibrin Glue for Pilonidal Sinus Disease
Pilonidal sinus disease (PSD) is
caused by hair that penetrates skin and gluteal cleft causing cyst,
sinus formation, infection and abscess. Is the most common benign
disease causing school lost in adolescent children. The diagnosis is
made clinically, seldom needing imaging studies. From time many
surgical approaches have been utilized to remove permanently PSD. They
include primary excision with closure, radical excision leaving the
wound opened, incision of the sinus with curettage, marsupialization,
application of phenol, cleft lift procedure, cryosurgery and laser. The
lowest recurrence rates have been described for the lateral cleft lift
procedure approach. Leaving the wound opened prolongs the healing
process unless vacuum-assisted closure therapy is utilized. The gold
standard for management of PSD in children is a lateralizing flap
procedure. Fibrin glue is a biological adhesive material that is made
from human fibrinogen and is being used as a sealant for the treatment
of fistulae. It promotes wound healing by enhancing homeostasis and
angiogenesis, stimulating macrophages and collagen production at the
wound site. The use of fibrin glue to gap the closed space after
excision and closure of PSD has been recently found to be very
effective management strategy. Fibrin glue promotes hemostasis, sealing
and healing speeding patient recovery and reducing pilonidal disease
recurrence. This approach is recommended as primary treatment and for
recurrence of PSD in children.
References:
1- Lund JN, Leveson SH: Fibrin glue in the treatment of pilonidal
sinus: results of a pilot study. Dis Colon Rectum. 48(5):1094-6, 2005
2- Seleem MI, Al-Hashemy AM: Management of pilonidal sinus using fibrin
glue: a new concept and preliminary experience. Colorectal Dis.
7(4):319-22, 2005
3- Patti R, Angileri M, Migliore G, Sparancello M, Termine S, Crivello
F, Gioa¨FP, Di Vita G: Use of fibrin glue in the treatment of
pilonidal sinus disease: a pilot study. G Chir. 27(8-9):331-4, 2006
4- Handmer M: Sticking to the facts: a systematic review of fibrin glue for pilonidal disease. ANZ J Surg. 82(4):221-4, 2012
5- Brown SR: Invited comment on Elsey and Lund: fibrin glue in the
treatment of pilonidal sinus: high patient satisfaction and rapid
return to normal activities. Tech Coloproctol. 17(1):105-6, 2013
6- Smith CM, Jones A, Dass D, Murthi G, Lindley R: Early experience of
the use of fibrin sealant in the management of children with
pilonidal sinus disease. J Pediatr Surg. 50(2):320-2., 2015
PSU Volume 44 NO 05 MAY 2015
Hemobilia
Hemobilia is defined as bleeding into
the biliary tract due to a communication between a blood vessel and the
bile ducts. Hepatic trauma (iatrogenic and accidental) is the most
frequent cause of hemobilia, but it can also occur after inflammation,
hepatobiliary tumors, percutaneous liver biopsy and vascular disorders.
The proximity of the intrahepatic bile ducts and the hepatic vascular
supply accounts for the occasional development of an arteriobiliary or
portobiliary fistula and hemobilia. Hemobilia may be major and present
with life-threatening hemorrhage or minor and present many weeks after
the initial injury. The classic Sandblom triad of jaundice, epigastric
pain and upper GI bleeding occurs in one-third of all patients.
Arterial bleeding may be so rapid that blood is easily dissolved in
bile passing directly into the duodenum appearing as either hematemesis
or melena. With slow hemorrhage the blood and bile do not mix and clots
obstruct the bile ducts producing colicky abdominal pain and jaundice.
Upper GI endoscopy rules out a bleeding source in the esophagus,
stomach or duodenum and can detect bleeding from the ampulla of Vater.
Other diagnostic studies performed include US or CT-Scan. Hepatic
arteriography is the diagnostic and therapeutic modality of choice.
Findings at arteriography are usually a pseudoaneurysm. Significant
hemobilia seldom ceases spontaneously and usually necessitates surgical
or angiographic intervention. Surgical management includes liver
suturing or partial hepatic resection for peripheral lesions and
ligation of the hepatic artery for more central lesions. Transcatheter
selective arterial embolization with microcoils is currently the safest
and preferred technique used to manage hemobilia. It is minimally
invasive and can be combined with diagnostic arteriography. The risk of
hepatic necrosis is minimal with superselective embolization. The
complication rate after embolization is low due to its dual vascular
supply with the portal vein and hepatic artery except in cases in which
the portal vein is thrombosed.
References:
1- Laopaiboon V, Aphinives C, Pongsuwan P, Pugkem A, Thammaroj J,
Puttharuk W: Hepatic artery embolization to control liver hemorrhages
by interventional radiologists: experiences from Khon Kaen University.
J Med Assoc Thai. 89(3):384-9, 2006
2- Srivastava DN, Sharma S, Pal S, Thulkar S, Seith A, Bandhu S, Pande
GK, Sahni P: Transcatheter arterial embolization in the
management of hemobilia. Abdom Imaging. 31(4):439-48, 2006
3- Gupta LB, Puri AS: Management of traumatic hemobilia with embolization. Indian Pediatr. 43(9):825-7, 2006
4- Villarreal DH, Norwood S, McAuley C, Berne JD: Hemobilia and
subsequent hemocholecystitis complicating blunt hepatic injury. J
Trauma. 62(6):E18-9, 2007
5- Marynissen T(1), Maleux G, Heye S, Vaninbroukx J, Laleman W,
Cassiman D, Verslype C, Van der Merwe S, Van Steenbergen W, Nevens F:
Transcatheter arterial embolization for iatrogenic hemobilia is a safe
and effective procedure: case series and review of the literature. Eur
J Gastroenterol Hepatol. 24(8):905-9, 2012
6- Zaleska-Dorobisz U, Lasecki M, Olchowy C, Ugorski W, Garcarek J,
Patkowski D, Kurcz J: Iatrogenic hemobilia in 10-year-old boy. Pol J
Radiol. 79:279-82, 2014
Pseudogynecomastia
Gynecomastia in pubertal boys is a
very distressing condition. Development of glandular tissue (ductal
hyperplasia) underneath the areola is thought to occur from an
imbalance of free testosterone and estrogen as opposed to the hormone
bound to sex hormone binding globulin. Certain medications compete with
estrogen binding more than testosterone bindings causing free estrogen
to be higher thus stimulating glandular growth in pubertal males. Drugs
implicated in breast enlargement include spironolactone, marihuana,
amphetamines, anabolic steroids, digoxin, Valium, metronidazole,
omeprazole, ranitidine, and metoclopramide. Clinical manifestations
consist of soft, elastic, nodule-like retroareolar mass that is
occasionally associated with pain. Endocrine evaluation of these
patients is usually negative and there is no need for ultrasound or
imaging studies to diagnose gynecomastia. Pseudogynecomastia is a form
of bilateral breast enlargement which occurs from excess chest fat in
obese children. It is clinically manifested by increases in volume that
are diffuse, non-nodular and symmetrical. The diagnosis is made on
clinical findings. Ultrasound reveals the presence of lobular areas of
adipose tissue that are homogenously hypoechogenic and separated from
one another by thin hyperechoic bands of fibrous tissue. Initial
management of pseudogynecomastia is reassurance and weight reduction.
With persistent distress excisional surgery for both pseudogynecomastia
and gynecomastia with or without added liposuction for contouring of
the chest and upper abdomen ensures flat chests and no partial return
of breast enlargement.
References:
1- Gusenoff JA, Coon D, Rubin JP: Pseudogynecomastia after
massive weight loss: detectability of technique, patient satisfaction,
and classification. Plast Reconstr Surg. 122(5):1301-11, 2008
2- Castillo PF, Sepulveda C, Troncoso AL, Villaman JJ, Cuadra A:
Transumbilical approach for pseudogynecomastia liposuction. Aesthetic
Plast Surg. 33(6):832-3, 2009
3- Johnson RE, Murad MH: Gynecomastia: pathophysiology, evaluation, and management. Mayo Clin Proc. 84(11):1010-5, 2009
4- Venkata Ratnam B: How important is "pseudogynecomastia"? Aesthetic Plast Surg. 35(4):668-9, 2011
5- Draghi F, Tarantino CC, Madonia L, Ferrozzi G: Ultrasonography of the male breast. J Ultrasound. 14(3):122-9, 2011
6- Senger JL, Chandran G, Kanthan R: Is routine pathological evaluation
of tissue from gynecomastia necessary? A 15-year retrospective
pathological and literature review. Can J Plast Surg. 22(2):112-6, 2014
Anorectal Manometry
Anorectal manometry (ARM) is used to
investigate children with chronic constipation, fecal incontinence, as
a tool to evaluate continent results after surgery and determine if the
child is a candidate for biofeedback therapy. ARM is a noninvasive
procedure that explains the mechanisms of defecation disorders because
of hypertonia, low tone or paradoxical shrinkage of the internal anal
sphincter. ARM can study the recto-anal inhibitory reflex (RAIR) which
is absent in cases of Hirschsprung's disease. Manometry investigation
of anorectum in an awake and compliant child provides valuable
information about physiological function including rectal sensations,
defecation dynamics and somatic reflexes. Fecal incontinent children
will show decrease resting and maximum squeeze pressures along with
decrease maximum tolerable rectal volumes and impaired external anal
sphincter response to rectal distension. Internal anal sphincter
achalasia will show absent RAIR and normal rectal biopsy.
Manometric assessment has been the principal method to obtain objective
data of postoperative sphincter function by comparing with normative
data for each age group. Absence of RAIR in postoperative patients
signifies internal anal sphincter damage or maldevelopment. ARM is
difficult to perform in children younger than one year of age. With
uncooperative children the use of sedation with chloral hydrate,
midazolam or ketamine has been proposed. Ketamine anesthesia does not
affect quantitative or qualitative measurements of autonomic anorectal
function in children who are investigated for chronic functional
constipation and soiling. It can be used reliably in children, who are
young and uncooperative for awake study and in those who require
additional painful procedures. Ketamine can be used in conjunction with
endosonography to elucidate evidence of sphincter damage in the context
of iatrogenic injuries, sexual abuse and surgery for anorectal
malformations and Hirschsprung's disease.
References:
1- Senel E, Demirbag S, Tiryaki T, Erdogan D, Cetinkursun S, Cakmak O:
Postoperative anorectal manometric evaluation of patients with
anorectal malformation. Pediatr Int. 49(2):210-4, 2007
2- Noviello C, Cobellis G, Papparella A, Amici G, Martino A: Role of
anorectal manometry in children with severe constipation. Colorectal
Dis. 11(5):480-4, 2009
3- Kumar S, Al Ramadan S, Gupta V, Helmy S, Debnath P, Alkholy A: Use
of anorectal manometry for evaluation of postoperative results of
patients with anorectal malformation: a study from Kuwait. J
Pediatr Surg. 45(9):1843-8, 2010
4- Hong J: Clinical applications of gastrointestinal manometry in
children. Pediatr Gastroenterol Hepatol Nutr. 17(1):23-30, 2014
5- Mousavi SA, Karami H, Rajabpoor AA: Intractable chronic constipation
in children: outcome after anorectal myectomy. Afr J Paediatr Surg.
11(2):147-9, 2014
6- Keshtgar AS, Choudhry MS, Kufeji D, Ward HC, Clayden GS: Anorectal
manometry with and without ketamine for evaluation of defecation
disorders in children. J Pediatr Surg. 50(3):438-43, 2015
PSU Volume 44 NO 06 JUNE 2015
Anti-NMDA receptor Encephalitis
Anti-N-methyl-D-aspartate (NMDA)
receptor encephalitis is a rare autoimmune paraneoplastic syndrome
characterized by escalating confusion, amnesia, agitation and paranoid
or delusional thoughts. Most patients with anti-NMDA receptor
encephalitis have the following characteristics: young females with a
median age of 24 years, prominent neuropsychiatry symptoms such as
behavioral or personality changes that could progress to seizures,
stereotyped movements, autonomic instability or central
hypoventilation, harboring of a matured ovarian or mediastinal
teratomas, with detectable quantities of serum or cerebrospinal fluid
antibodies that interacted with the cell membrane of rat hippocampal
neurons in vivo. The teratoma produces autoantibodies to the NMDA
Receptor 1 subunit of the NMDA receptor site detectable in serum and
cerebrospinal fluid (anti-NMDA receptor immunoglobulin G antibody). Not
all patients presenting with NMDA receptor encephalitis are females
with ovarian teratomas, but the frequency is so significant that
work-up should include ultrasound, CT Scans, and MRI to rule out a
causative tumor. Infants and toddlers with such paraneoplastic syndrome
lack an associated tumor. Common presenting symptoms of patients with
NMDA receptor encephalitis include neuropsychiatric symptoms, seizures,
dyskinesias, loss of consciousness, amnesia, and autonomic dysfunction.
Management of anti-NMDA receptor encephalitis caused by a teratoma is
removal of the tumor and immunotherapy. Removal of the teratoma is
associated with decrease in serum and cerebrospinal fluid levels of the
pathologic autoantibody with improvement or full recovery.
Immunotherapy includes steroids, intravenous immunoglobulin and
plasmapheresis. Since most cases present with neuropsychiatry symptoms,
recognition by mental health professional is key to early diagnosis.
References:
1- Lesher AP, Myers TJ, Tecklenburg F, Streck CJ:
Anti-N-methyl-D-aspartate receptor encephalitis associated with an
ovarian teratoma in an adolescent female. J Pediatr Surg. 45(7):1550-3,
2010
2- Tanyi JL, Marsh EB, Dalmau J, Chu CS: Reversible paraneoplastic
encephalitis in three patients with ovarian neoplasms. Acta Obstet
Gynecol Scand. 91(5):630-4, 2012
3- Goldberg EM, Titulaer M, de Blank PM, Sievert A, Ryan N:
Anti-N-methyl-D-aspartate receptor-mediated encephalitis in infants and
toddlers: case report and review of the literature. Pediatr Neurol.
50(2):181-4, 2014
4- Seifi A, Xia BT, Felte RF: Thinking outside the box about young
female patients with sudden-onset bizarre behavior: a case of
anti-N-methyl-D-aspartate receptor encephalitis. Prim Care Companion
CNS Disord. 15(4): 1-2, 2013
5- Acien P, Acien M, Ruiz-Macia E, Martin-Estefania C: Ovarian
teratoma-associated anti-NMDAR encephalitis: a systematic review of
reported cases. Orphanet J Rare Dis. 9:157-65, 2014
6- Li S, Zhao A: A case of anti-NMDAR encephalitis induced by ovarian teratoma. Cell Biochem Biophys. 71(2):1011-4, 2015
Hereditary Pancreatitis
Hereditary pancreatitis (HP) is a rare
etiology of chronic pancreatitis in children and adults. HP is an
autosomal dominant inherited disorder with an incomplete penetrance
affecting mostly the white population. HP is characterized by a younger
age of onset and a longer course of recurrent episodes of acute
pancreatitis before reaching pancreatic insufficiency. It also is
associated with a high cumulative risk of developing pancreatic ductal
carcinoma more commonly seen with a paternal inheritance pattern. HP is
correlated to a mutation in the PRSS1 gene located on 7q35 locus
identified as R122H. PRSS1 mutation induces an inability of endogenous
trypsin inhibitor binding to inactivate intrapancreatic trypsin,
leading to pancreatic autolysis. Other gene mutations implicated are
SPINK1 and CFTR. Accurate and reproducible genetic testing for PRSS1,
SPINK1, and CFTR has improved the efficiency of diagnosis. The
diagnosis of HP is usually based on the recognition of recurrent
pancreatitis, usually starting in childhood, in two or more members of
a family in the absence of other causes for pancreatitis. HP is
characterized by acute onset of recurrent epigastric pain associated
with nausea, vomiting and abdominal pressure presenting before the age
of ten years. Complications such as pancreatic duct stones, duct
strictures and pseudocysts are more frequent in children with HP. They
are diagnosed using MRCP and ERCP. Late complications include
pancreatic insufficiency with steatorrhea and insulin-dependent
diabetes. Management of hereditary pancreatitis includes several
objectives: pain-control, prevention of recurrence, treatment of
exocrine and endocrine dysfunction, management of complications and
early detection of pancreatic ductal adenocarcinoma. Endoscopic
management consists of biliary/pancreatic sphincterotomy, pancreatic
duct stricture dilatation, stent placement and removal of stones from
the pancreatic duct. Endotherapy delays development of chronic
pancreatitis and pancreatic cancer. Surgical procedures consist in
lateral pancreaticojejunostomy, resection of the tail of the pancreas
and duodenal sparing pancreatectomy.
References:
1- DuBay D, Sandler A, Kimura K, Bishop W, Eimen M, Soper R: The
modified Puestow procedure for complicated hereditary pancreatitis in
children. J Pediatr Surg. 35(2):343-8, 2000
2- Choudari CP, Nickl NJ, Fogel E, Lehman GA, Sherman S: Hereditary
pancreatitis: clinical presentation, ERCP findings, and outcome of
endoscopic therapy. Gastrointest Endosc. 56(1):66-71, 2002
3- Rebours V, Boutron-Ruault MC, Schnee M, et al: The natural history
of hereditary pancreatitis: a national series. Gut. 58(1):97-103, 2009
4- Schmitt F, Le Henaff G, Piloquet H, Leclair MD, David A, Heloury Y,
Podevin G: Hereditary pancreatitis in children: surgical implications
with special regard to genetic background. J Pediatr Surg.
44(11):2078-82, 2009
5- Lal A, Lal DR: Hereditary pancreatitis. Pediatr Surg Int. 26(12):1193-9, 2010
6- Ceppa EP, Pitt HA, Hunter JL, Leys CM, Zyromski NJ, Rescorla FJ,
Sandrasegaran K, Fogel EL, McHenry LW, Watkins JL, Sherman S, Lehman
GA: Hereditary pancreatitis: endoscopic and surgical management. J
Gastrointest Surg. 17(5):847-56, 2013
7- Kargl S, Kienbauer M, Duba HC, Schafl R, Pumberger W: Therapeutic
step-up strategy for management of hereditary pancreatitis in children.
J Pediatr Surg. 50(4):511-4, 2015
Parathyroid Carcinoma
Parathyroid carcinoma is an extremely
rare cause of primary hyperparathyroidism in the pediatric population
with less than ten cases reported in the world literature. Clinical
manifestations of parathyroid cancer in children include palpable neck
mass, bone pain, weakness, pancreatitis, malaise, polyuria, polydipsia,
nausea and vomiting. Most cases report high levels of PTH associated to
severe hypercalcemia with total serum calcium greater than 13 mg/dL and
a palpable neck mass. Sestamibi scan corroborated the diagnosis,
while CT-Scan provides clues toward tumor resectability. Parathyroid
carcinoma is confirmed by histologic examination with findings of
trabecular pattern, mitotic figures, capsular and bloods vessel
invasion. Management of parathyroid cancer is en bloc removal of the
tumor along with the ipsilateral thyroid lobe avoiding rupture of the
tumor capsule and spillage of tumor cells. Removal of adjacent enlarged
or abnormal lymph nodes is recommended. The tumor metastasize to the
lung primarily, followed by bone, liver and brain. Serum calcium and
iPTH levels should normalize after surgery, unless unresected tumor or
metastatic disease is present. Recurrence and systemic metastases occur
in 50% of patients with parathyroid carcinoma. When metastatic disease
is present metastasectomy is recommended to reduce hypercalcemia.
Chemotherapy, adjuvant radiotherapy and medical management including
calcitonin, mithramycin bisphosphonates and NPS R-568 calcimimetic
agent may be used for patients with uncontrollable hypercalcemia with
unresectable or metastatic disease. Prognosis is poor with mortality
caused by severe hypercalcemia when widespread metastatic or
unresectable disease is
present.
References:
1- Rock K, Fattah N, O'Malley D, McDermott E: The management of
acute parathyroid crisis secondary to parathyroid carcinoma: a
case report. J Med Case Rep. 4:28, 2010
2- Wang CA, Gaz RD: Natural history of parathyroid carcinoma. Diagnosis, treatment, and results.Am J Surg. 149(4):522-7, 1985
3- Kim YS: Parathyroid carcinoma with lung metastasis in a thirteen-year-old girl. J Korean Surg Soc. 82(6):385-8, 2012
4- Ito Y, Iwase H, Tanaka H, Yuasa H, Kureyama Y, Yamashita H, Toyama
T, Kimura M, Kobayashi S: Metachronous primary hyperparathyroidism due
to a parathyroid adenoma and a subsequent carcinoma: report of a case.
Surg Today. 31(10):895-8, 2001
5- Kebebew E: Parathyroid carcinoma. Curr Treat Options Oncol. 2(4):347-54, 2001
6- Kung B, Winokur R, Cognetti D, O'Hara B, Rosen D: Parathyroid
carcinoma: a rare cause of primary hyperparathyroidism. Ear Nose Throat
J. 88(9):E10-3, 2009