Online Exclusives
Novel approach to vaginal calculus in a girl with urogenital sinus anomaly
Isolated urogenital sinus can cause distended bladder and/or vagina and may present with an abdominal mass and sepsis during infancy. Older children may present with recurrent urinary tract infections and hematocolpos. We describe a 3-year-old girl with recurrent urinary tract infections thought to be secondary to vesicoureteric reflux. On further investigation, an isolated urogenital sinus anomaly with a calculus inside one of the hemivaginae was noted. She was managed expectantly with a plan to intervene at puberty.Small left colon syndrome in 3 sisters
Neonatal small left colon syndrome is a rare cause of bowel obstruction. Its etiology remains unknown, but a significant association has been noted between maternal diabetes and small left colon. No reported cases within the same family could be found in the literature, excepting 2 sets of twins. We report 3 cases of small left colon syndrome in 3 consecutive sisters born of a nondiabetic mother. This raises the question of a genetic factor in its etiology.Extrahepatic vitelline vein aneurysm: prenatal diagnosis and follow up
Umbilical vein varix is a well-described prenatal anomaly in which the prognosis remains unclear. We describe a very rare venous malformation that mimicked an umbilical vein varix consisting of a persistent vitelline vein. From 2003 to 2010, three patients were referred starting at 20 weeks gestation to our prenatal centers for an umbilical vein varix diagnosis. Fetal follow up was unremarkable, with the exception of the dilated vein size (mean: 35 mm at 33 weeks gestation). After birth, the three children presented with thrombosis from the aneurysmal sac to the portal trunk.Cloacogenic polyps in an adolescent: A rare cause of rectal bleeding
Cloacogenic polyps are rare inflammatory lesions occurring around the anal transitional zone and in the lower rectum which can mimic neoplasia. They should be given diagnostic consideration in patients presenting with symptoms of rectal bleeding, tenesmus, and altered bowel habits.Peliosis hepatis in a child with myotubular myopathy: Successful treatment using hepatic artery embolization
Peliosis hepatis (PH) is a rare condition characterized by multiple blood-filled spaces within the hepatic parenchyma that can lead to fatal hemorrhage. There is no consensus on the best treatment algorithm for PH, and therapy is directed at removing the potential causative agent with operative intervention when necessary. Here we present the first known case of PH in a child with myotubular myopathy who was successfully treated with angiography and hepatic artery embolization as a first line therapy, without the need for operative intervention.Fetal primary small bowel volvulus in a child without intestinal malrotation
Fetal primary small bowel volvulus without atresia or malrotation is an extremely rare but life-threatening surgical emergency. We report a case of primary small bowel volvulus that presented as sudden fetal distress and was diagnosed on the basis of the ‘whirl-pool sign’ of fetal sonography. This diagnosis led to emergency operation after birth at the third trimester with a good outcome. Although the pathogenesis of fetal primary small bowel volvulus is unclear, ganglion cell immaturity may play a role in the etiology.Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: A methamizole embryopathy?
Newborns prenatally exposed to methimazole (active metabolite of carbamizole) for maternal hyperthyroidism may present some disorders in common, but the phenotype is not well defined. Choanal atresia is the most frequent, and other anomalies such as esophageal atresia and aplasia cutis were described with this embryopathy. Additionally, patent omphalomesenteric duct or Meckel's diverticulum in similar association was reported in some patients. The predisposed genetic background has to be considered.Ovarian steroid cell tumor, not otherwise specified, associated with congenital adrenal hyperplasia: rare tumors of an endocrine disease
Ovarian steroid cell tumors, not otherwise specified (OSCTs), are extremely rare and present a diagnostic challenge when evaluating an ovarian mass. We present a case of such a tumor in a patient with known Congenital Adrenal Hyperplasia (CAH), secondary to 21-hydroxylase deficiency, who was noncompliant with her medications. The workup, diagnosis, and treatment of this rare condition are described.Radiofrequency ablation of a large hepatic adenoma in a child
Hepatic adenomas are rare benign liver tumors seen most commonly in young women on oral contraceptives. Large hepatic adenomas are at risk of malignant transformation and require treatment in select patients, usually by surgical resection. Radiofrequency ablation (RFA) has become a widely used and accepted tool for the curative treatment of small primary hepatocellular carcinomas in adults; however, its use in the treatment of other liver lesions, such as hepatic adenoma, has only recently been described.Intra-thoracic appendicitis in a child with Down’s syndrome
Morgagni congenital diaphragmatic hernias are rare. They are associated with chromosomal anomalies, especially Down’s syndrome. Acute appendicitis is the most common surgical emergency in childhood, but accurate diagnosis can be a challenge if encountered out of the usual anatomical position. This is the first case report of acute appendicitis within a Morgagni hernia in a child with Down’s syndrome.Staple line ulcers: A cause of chronic GI bleeding following STEP procedure
Intestinal failure (IF) results from a critical reduction in the functional intestinal mass resulting in dependence on total parenteral nutrition (TPN) for growth and survival. Short bowel syndrome (SBS) is the most common cause of intestinal failure in pediatrics. Following resection, the small bowel undergoes adaptation, a process wherein the bowel elongates and dilates in order to increase intestinal absorptive capacity. Small bowel dilatation can lead to dysmotility and small bowel bacterial overgrowth which may further enhance feeding intolerance.Esophageal atresia with proximal tracheoesophageal fistula: A missed diagnosis
This retrospective study was performed to compare the relative incidence of esophageal atresia (EA) with proximal tracheoesophageal fistula (PTEF) at our institution with those reported in literature and to test the hypothesis that our higher relative incidence is caused by the routine use of tracheoscopy.Extrarenal Wilms tumor: a case report and review of the literature
Extrarenal Wilms tumors are extremely rare with only isolated case reports in the pediatric literature. We present the case of a 2-year old boy who presented with a large abdominal mass and constipation. Pathologic diagnosis of the tumor was extrarenal Wilms tumor (ERWT) with favorable histology. We discuss the diagnostic workup, radiologic and operative findings, treatment and review of the literature.Apple-peel intestinal atresia: Enteroplasty for intestinal lengthening and primary anastomosis
Apple-peel atresia (or Type-IIIb intestinal atresia) is an unusual type of jejunoileal atresia. They present with jejunal atresia near the ligament of Treitz and a foreshortened small bowel. Many surgical options have been used, but the optimal method of repair remains unclear. We present a case of a newborn with apple-peel intestinal atresia managed by enteroplasty for intestinal lengthening and primary anastomosis.Bladder calculus formation on the tip of a migrated disused ventriculoperitoneal shunt
Bladder stones in children are rare. They generally occur in children with one or more predisposing risk factors to stone formation. In this unique case report we discuss the formation and successful endoscopic treatment of a large stone in a neuropathic bladder on the tip of a migrated VP shunt.Traumatic hepatic artery laceration managed by transarterial embolization in a pediatric patient
While blunt abdominal trauma with associated liver injury is a common finding in pediatric trauma patients, hepatic artery transection with subsequent treatment by transarterial embolization has rarely been reported. We present a case of a child who suffered from a hepatic artery injury which was successfully managed by supraselective transarterial microcoil embolization, discuss management strategies in these patients, and provide a review of currently available literature.Foregut duplication cyst associated with esophageal atresia and tracheoesophageal fistula: A case report and literature review
A case of esophageal atresia associated with a foregut duplication cyst is reported and the literature reviewed. This is the first documented occurrence in conjunction with Down syndrome and the second case where both anomalies were treated at the initial surgery.Video-assisted surgery in the management of hydatid renal cyst in children
Renal hydatid disease is rare in children. Open surgery is the traditional method of treatment, but minimally invasive techniques are being increasingly used. Herein, we report our experience with laparoscopic management of renal hydatid cyst in four children via a transperitoneal approach in three cases and a retroperitoneoscopy in one. We conclude that transperitoneal laparoscopy can be offered for the management of hydatid renal cyst associated with other intraperitoneal localizations, whereas the retroperitoneoscopy is limited for the treatment of isolated hydatid renal cysts.Isolated caudate lobe (Spiegel lobe) resection for hepatoblastoma. Is it enough to achieve a sufficient resection margin? A case report
Hepatoblastoma arising from and limited to the caudate lobe is an extremely rare clinical entity. The object of this case report is to present a case of isolated caudate lobe resection due to hepatoblastoma originating in the caudate lobe.Staged closure with negative pressure wound therapy for gastroschisis with liver herniation: A case report
Liver herniation with gastroschisis is an uncommon occurrence that is associated with a poor prognosis. This report presents a single case of complex gastroschisis complicated by herniation of the left hepatic lobe. In the subject case, the abdominal wall defect was successfully closed by sequential closure with negative pressure wound therapy after the initial application of a preformed silo. As there are no established standards for the management of gastroschisis with liver herniation, there exists an opportunity for multicenter review to define approaches to optimize clinical outcomes with this complex congenital issue.Pelvic widening to alleviate the mechanical component of constipation in a patient with severe caudal regression and extremely narrow pelvis
Constipation in children is a commonly encountered problem with a broad variety of causes. Constipation caused by a narrow pelvis has, to our knowledge, not been reported in the human literature.A newborn with caudal duplication and duplex imperforate anus
There are case reports of duplication of the colon, rectum, anus, urinary system, lower genital tract, and external genitalia, spinal anomalies, and abdominal wall defects. However, it is rare to encounter a single newborn with all of the mentioned abnormalities, which have been defined as the caudal duplication syndrome (CDS). Herein, we present a newborn with an omphalocele, duplex external genitalia (with duplex labia minora and labia majora), duplex urethral orifices, duplex vaginal orifices, and duplex anal dimple with imperforate anus and rectovestibular fistula on both sides.Pulmonary artery pseudoaneurysm after MRSA septicemia in a pediatric patient
We document a previously unreported case of a pulmonary artery pseudoaneurysm (PAP) that developed in a pediatric patient initially presenting with Methicillin-resistant Staphylococcus aureus hip joint sepsis. This is the first reported case of PAP of infectious origin in a pediatric patient, and this case is unique as the evolution of the PAP was documented by computed tomography.Povidone-iodine for persistent air leak in an extremely low birth weight infant
Chemical pleurodesis with povidone-iodine has been used to treat congenital idiopathic chylothorax in neonates. We report successful use of povidone-iodine in an extremely premature infant to treat a pneumothorax that had persisted for more than one week despite high-frequency ventilation.Retroperitoneal lymphatic malformation and transverse testicular ectopia: A unique clinical presentation
This case report presents a fetal patient diagnosed in utero with a retroperitoneal lymphatic malformation by ultrasound and followed through gestation. At birth the child was noted to have a right inguinal hernia with two palpable testicles. Plan for partial resection and hernia repair with postoperative sclerotherapy was made. At the time of hernia repair, transverse testicular ectopia was diagnosed, and subsequent extraperitoneal transposition orchiopexy was performed following partial resection of the lymphatic malformation.Clostridium septicum gas gangrene in a previously healthy 8-year-old female with survival
We present the only reported case of an immunocompetent pediatric patient in the literature to have fulminate gas gangrene of the lower extremity and concomitant gastrointestinal tract infection due to Clostridium septicum coinfected with Clostridium difficile colitis respectively. The patient survived with aggressive medical and surgical treatment.Management of rectal stenosis with endoscopic balloon dilatation
We present a rare case of female newborn that presented with atypical genitalia, vaginal atresia and a short segment rectal stenosis which was successfully managed in a minimally invasive fashion using urological endoscopic and balloon dilatation technology. We believe that this technique is safe and feasible for short rectal stenotic segments and might prevent the need for major reconstruction surgery.Appendiceal duplication in children presenting as an appendiceal tumor and as recurrent intussusception
Duplication of the appendix is a rare condition and is usually an incidental finding during an appendectomy. There have been several cases reported in the literature. Although not usually associated with any discrete pathology, the presenting symptoms can vary but are usually associated with acute appendicitis. We present two cases of appendiceal duplication in young children, one presenting with the usual signs and symptoms of acute appendicitis and the other with intussusception. The purpose of this report is to present two distinct modes of presentation of this rare condition so that pediatric general surgeons are aware of this as a possible entity.Duplicated gall bladder with duodenal duplication cyst
A four year old boy with a duplicated gall bladder communicating with a duplication cyst of the duodenum is reported for the first time in the literature. It is also reported for the absence of any connection with the biliary system.Spontaneous rupture of an advanced pancreatoblastoma: Aberrant RASSF1A methylation and CTNNB1 mutation as molecular genetic markers
Pancreatoblastoma is a rare pancreatic tumor that is most commonly encountered in infants and young children. This report describes an unusual presentation of a large pancreatic body pancreatoblastoma presenting with intraabdominal bleeding due to spontaneous rupture of the tumor in a 5-year-old boy. Subsequent molecular analysis from the resected specimen identified a mutation in CTNNB1 and aberrant methylation of the tumor suppressor RASSF1A.Traumatic disruption of the abdominal wall: Lap-belt injuries in children
Traumatic abdominal wall hernia (TAWH) from high speed mechanism is a unique finding in adult trauma, and exceedingly rare in pediatrics. The majority of reports are of low-speed “handlebar” hernias associated with direct injury by bicycle handlebars. We report a series of three pediatric patients in motor vehicle collisions (MVC) who experienced TAWH by lap-belt and associated intra-abdominal injuries necessitating immediate operative intervention. Different operative approaches were used in each case to manage the varying types of disruptions.Laparoscopic-assisted removal of gastric trichobezoar; a novel technique to reduce operative complications and time
Trichobezoar complicates trichophagia. It can provide a diagnostic challenge due to the variety of presenting features. Surgical removal is usually required for relief of symptoms and prevention of further complications. We describe 2 cases of gastric trichobezoar, and present a novel laparoscopic-assisted technique of removal of large trichobezoars involving the use of an Alexis wound retractor. This is advantageous as it keeps peritoneal cavity and skin clean and the gastric wound is protected from trauma by repeated instrumentation.Wandering spleen as a cause of mesenteric and portal varices: A new etiology?
Wandering spleen is a rare clinical entity characterized by spleen hypermobility due to lack or weakness of one or more splenic ligaments. We report two patients with the diagnosis of wandering spleen with portal and mesenteric varices. A 16 year-old girl presented with abdominal pain, an abdominal mass and pancytopenia. A 12 year-old girl presented with an abdominal mass only. Imaging studies revealed both patients had a viable but torsed wandering spleen in association with portal, splenic and mesenteric varices.Prolapsed urachal sinus with pyourachus in an infant
We report an infant who presented with a discharging single-lumen, tubular, and mucosa-lined umbilical mass and a large central abdominal mass, inferior to the umbilicus. At operation, the mass was discovered to be a prolapsed, open, and inflamed urachal sinus leading to a pyourachus. Primary total excision from dome of the bladder to the umbilicus led to smooth recovery with excellent results.Granular hemostat deposits mimicking disseminated malignancy
Hemostatic matrices are a part of the surgeon's armamentarium against profuse intraoperative bleeding. Granular deposits may form after the use of a liquid hemostat which can be mistaken for tumor recurrence or metastatic disease in the setting of neoplasia. We present two cases that highlight the importance of full knowledge of product usage during previous operations and the need for histological examination of these lesions.Splenic hemangiopericytoma in a one-month-old infant
Hemangiopericytoma is an uncommon tumor that occurs mostly in middle-aged adults. There have been only sporadic case reports of splenic involvement, and in all but one the treatment has been total splenectomy. We present a one-month-old boy with splenic hemangiopericytoma treated with partial splenectomy. This is the youngest case in the literature, and there has been no recurrence noted after two years of follow up.Generalized lymphatic malformation with chylothorax: Long-term management of a highly morbid condition in a pediatric patient
Generalized lymphatic malformation (GLM) often causes chylothorax, which can be a highly morbid condition. Chylothorax in a pediatric patient with a lymphangiogenic disorder may be especially resistant to therapy, requiring more aggressive measures. We discuss the complex ongoing long-term management of a pediatric patient with GLM who presented with massive, persistent left chylothorax, which resolved by surgical ligation of the thoracic duct and medical management.Rhabdomyosarcoma in adrenal region of a child with hypertension and fever: A case report and literature review
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children but rarely involves the adrenal. We describe a case of alveolar rhabdomyosarcoma (ARMS) of the right adrenal in a 5-year-old boy with a characteristic history of hypertension and recurrent fever. On surveillance imaging, a right adrenal mass was incidentally detected, and a right adrenalectomy was subsequently performed. After the surgery, the fever disappeared simultaneously, and the blood pressure gradually returned to normal level.Congenital absence of preputial foreskin: An extremely uncommon anomaly
The part of the penile skin that covers the glans penis is named prepuce or foreskin. The embryologic development of the prepuce and urethra is related. Several congenital anomalies of the prepuce have been previously reported, but the absence of the prepuce with a normal development of the urethra is a very rare association. We report a sporadic case with absence of the prepuce and normal urethral development.Congenital chylous ascites: A report of a case treated with hemostatic cellulose and fibrin glue
We report a case of an infant with recurrent chylous ascites who was unresponsive to conventional medical treatment. An exploratory laparotomy revealed no macroscopically visible sites of lymph leakage that could be ligated. Lymph exudation was noted in areas near the subhepatic recess and in the lesser sac surrounding the pancreas, which was not amenable to suture. The treatment consisted of the placement of a hemostatic mesh composed of oxidized cellulose (Surgicel®) on these areas, with a thin layer of fibrinogen/thrombin glue over the mesh (Tissucol®).Esophageal diverticulum arising from a prolonged retained esophageal foreign body
Esophageal foreign body impaction (EFBI) is a rare condition in childhood which needs urgent removal. However, if left untreated, its chronic impaction may lead to serious secondary complications. Symptoms associated with chronic EFBI are attributed to airway disease or gastroesophageal reflux, which further delays definitive diagnosis and management. We present a girl with ingestion of a bottle cap diaphragm that was embedded in her esophagus resulting in esophageal narrowing and a secondary diverticulum formation.Carcinoma of dual ectopic thyroid gland in a patient with cyanotic congenital heart disease—A case report and review of literature
Carcinoma arising from an ectopic thyroid gland in the absence of a normal thyroid gland is uncommon. There is a clinically relevant and unique association of ectopic thyroid with congenital heart disease which in turn is related to thyroid embryogenesis. The median thyroid anlage develops adjacent to the newly differentiated myocardium during the 3rd week of intrauterine life. The downward pull exerted by continued descent of heart is postulated to assist in the descent of the thyroid to its final location in the lower cervical position.Congenital extensive central venous thrombosis with chylous ascites and chylothoraces
We describe a case of congenital extensive central venous thrombosis presenting as polyhydramnios and massive ascites, requiring amnioreduction prenatally and refractory chylous ascites and chylothoraces postnatally. Echocardiography, computed tomography angiogram (CTA), and magnetic resonance venogram (MRV) were helpful in defining the nature and extent of the lesion. The patient underwent staged procedures of repeated abdominal paracentesis, chest drain insertion, and right internal jugular vein exploration initially.Prune belly syndrome, splenic torsion, and malrotation: A case report
An 18 year old male with a history of prune belly syndrome (PBS) presented with acute abdominal pain and palpable left upper quadrant mass. Computed tomography (CT) of the abdomen revealed a medialized spleen with a “whirl sign” in the splenic vessels, consistent with splenic torsion. Coincidentally, the small bowel was also noted to be on the right side of the abdomen, while the colon was located on the left, indicative of malrotation. Emergent diagnostic laparoscopy confirmed splenic torsion and intestinal malrotation.Prepubertal unilateral gynecomastia and the presence of 47,XXY mosaicism in breast epithelial cells: a case report
Breast enlargement in prepubertal boys is a rare condition. This case report describes an otherwise healthy 3-year old non-obese boy who developed a large unilateral cystic breast mass measuring approximately 9 × 6 × 4 cm. The mass was initially treated as a lymphatic malformation, and sclerotherapy with Picibanil® (OK-432) was attempted without any detectable effect on size. The mass was later excised. The pathological examination revealed mammary gland tissue suggestive of idiopathic gynecomastia.Multiseptate gallbladder: Clinical and ultrasonographic follow-up for 12 years
There are only a few cases in literature in which a patient with multiseptate gallbladder (MSG) has been followed-up after the diagnosis. A pediatric patient with MSG has been followed-up until adulthood. Diagnosis was made at 10 years after an episode of abdominal pain. Ultrasonography showed a gallbladder with many internal septa, without stones or signs of cholecystitis. Laboratory tests were normal. Symptoms receded in a few days, and it was decided to follow the patient's course. Additional painful episodes occurred at 19 and 22 years.Ossifying renal tumor of infancy (ORTI): A case report and review of the literature
We present the case of a 6-month-old boy who was referred to us with the chief complaint of intermittent painless gross hematuria. Computed tomography (CT) scan of the abdomen showed a partially calcified soft-tissue mass that was located in the lower pole of the right kidney and extended into the collecting system. Consequently, a partial nephrectomy was performed. The resected specimen showed that the tumor was partially calcified and occupied the renal pelvis. The histological findings suggested a diagnosis of ossifying renal tumor of infancy (ORTI), only 16 cases of which have been reported in the literature.A case of absence of extrahepatic portal bifurcation in biliary atresia
The absence of extrahepatic portal bifurcation is a rare anomaly and is considered to be caused by anomalous development of the portal vessels early in fetal life. The portal system develops from two main fetal vessels, the left umbilical vein and right vitelline vein. An anomalous connection of these two vessels early in fetal life results in the absence of bifurcation of the portal vein. We report a case who suffered from biliary atresia complicated with the absence of bifurcation of the portal vein.Case report: misdiagnosis of tailgut cyst presenting as recurrent perianal fistula with pelvic abscess
Tailgut cysts are uncommon lesions that usually occur within the presacral space. The relative rarity and nonspecific complaints associated with these lesions often lead to misdiagnosis or unnecessary procedures before the correct diagnosis is made. We describe a case of a 16-year-old female who presented with pelvic pain. She had previously undergone several procedures at an outside institution for recurrent perianal fistula and perirectal abscess. Subsequent evaluation under anesthesia revealed a presacral cystic mass with a well-developed tract within the anorectal ring in the posterior midline.Multiple urethral anomalies: Anterior urethral diverticulum, posterior urethral valves, and distal hypospadias
We report an infant with antenatally detected bilateral hydroureteronephrosis and a penile cyst who was eventually diagnosed with an anterior urethral diverticulum (AUD), subcoronal hypospadias, and posterior urethral valves (PUV) after birth. To our knowledge, there are no reports where all three anomalies have been found to coexist. As per urethral catheterisation was difficult, cystoscopy-guided catheterisation was performed. On retracting the complete foreskin, a subcoronal hypospadias was identified.Toxic shock syndrome due to group A beta-hemolytic streptococcus presenting with purpura fulminans and limb ischemia in a pediatric patient treated with early microsurgical arteriolysis
We describe a 2.5 year-old child with toxic shock syndrome due to group A beta-hemolytic streptococcus (GABHS) who presented with purpura fulminans and limb ischemia treated with early microsurgical arteriolysis. The clinical picture of toxic shock syndrome (TSS) presenting with purpura fulminans and limb ischemia is an exceptionally uncommon finding in sepsis due to GABHS. This is the first case of purpura fulminans caused by GABHS reported in Europe and the third one described in the literature (Dhodapkar et al., 2000[1]; Renaud et a., 2011[2]).Radial artery perforator flap and external fixation after gunshot injuries in a 10-year-old boy
Air-powered guns can cause serious trauma to body structures. We describe a 10-year-old boy who suffered injuries to his gluteal and thenar regions as a result of a single gunshot. Surgical management included cleansing of the gluteal region, as well as an external fixation device and a fasciosubcutaneous flap based on a perforator branch of the distal radial artery. To the best of our knowledge, this case illustrates the youngest patient to benefit from this kind of perforator flap. We also underline the long-term risk of lead toxicity for this kind of injury.Irreducible indirect inguinal hernia containing uterus and bilateral adnexa in a premature female infant: Report of an exceptional case and review of the literature
Indirect inguinal hernia is the most common congenital anomaly in the pediatric age group. About 15–20% of hernias in infant girls contain ovary, sometimes with a Fallopian tube. The presence of the uterus incarcerated with the adnexa is a very unusual occurrence in female infants with normal kariotype and phenotype, being commonly associated with several disorders of sex development. The surgical repair of this form of hernia is more difficult than a common herniorrhaphy because of the adhesions between the organs and the wall of the sac and the risk of damage during their freeing.Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach
Juvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6 years of age. A 3.34 Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes.Apple peel deformity of the small bowel without atresia in a congenital mesenteric defect
Congenital mesenteric defects are rare causes of bowel obstruction. Even rarer are mesenteric defects with an apple peel type of deformity, probably described definitively only once previously. We present a case of a 3 year old boy who presented with a septic-like picture of severe metabolic acidosis and lethargy from a bowel obstruction with bowel ischemia. At laparotomy he was found to have bowel infarction due to herniation through a congenital mesenteric defect with an apple peel type of deformity of the bowel without bowel atresia.Mesenteric suture granuloma caused by retained fragments of suture material in a girl who had a laparotomy 12 years previously
The authors report a case of a mesenteric suture granuloma in a 12 year-old-girl who had a small bowel resection for a complicated intussusception at the age of 5 months. At later exploration a whitish round tumor located on the anti-mesenteric side of the intestine was found. Several small intestinal loops also abutted on the tumor. Pathologic examination showed fibrosis and a granuloma containing linear colored braided suture material with multinucleated giant cell. As mesenteric suture granulomas have a complex appearance and mimic a soft tissue tumor during imaging, it is important for a surgeon to know about this condition and to consider the history of previous surgery when evaluating the images of patients presenting with an abdominal or pelvic mass.Primary mixed germ cell tumor arising in the pancreatic head
Germ cell tumors, comprised of gonadal and extra-gonadal types, are relatively rare tumors arising from primordial germ cells. Extra-gonadal germ cell tumors have been reported to occur at many non-gonadal locations, from the brain to the sacrococcygeal region. However, primary germ cell tumors in the pancreas are extremely rare. Herein, we present the first case of a 12-month-old girl with a primary mixed germ cell tumor, consisting of both endodermal sinus tumor and mature teratoma, in the pancreatic head.Embolization of a bleeding Dieulafoy lesion of the duodenum in a child. Case report and review of the literature
We report an adolescent with chronic, recurrent upper gastrointestinal bleeding in whom extensive prior investigations failed to reveal the source of bleeding. Angiography accurately identified a bleeding Dieulafoy lesion of the duodenum which was successfully embolized. The clinical history, angiographic appearances and treatment of this rare lesion are presented.Ectopic pancreas presenting with pancreatitis and a mesenteric mass
Ectopic pancreas is defined by the presence of abnormally situated pancreatic tissue that lacks contact with normal pancreas and possesses its own duct system and vascular supply. Ectopic pancreas in the gastrointestinal tract is not uncommon. Moreover, there are several reported cases of adult ectopic pancreatitis in the literature, but to date, only two cases of pediatric ectopic pancreatitis have been reported. We describe a 15-year-old female with acute right upper quadrant pain and elevated serum lipase and amylase, in whom the radiological diagnosis was mesenteric soft tissue mass with adjacent inflammatory changes.Severe menorrhagia, unilateral ovarian mass, elevated inhibin levels, and severe hypothyroidism: An unusual presentation of Van Wyk and Grumbach syndrome
A 10 year old female presented with a 3 week history of persistent vaginal bleeding, lower abdominal pain, and generalized fatigue. Further work-up determined that she had severe autoimmune hypothyroidism, precocious puberty, and a large left cystic ovarian mass, consistent with Van Wyk and Grumbach syndrome. In addition, the patient had elevated inhibin A and B levels, which may be elevated in granulosa cell tumor. The patient was managed with thyroid hormone replacement therapy and careful observation.Medullary thyroid carcinoma in ethnic Chinese with MEN2A: A case report and literature review
Medullary Thyroid Carcinoma (MTC) is the most common cause of death in MEN patients. It is curative by prophylactic total thyroidectomy, but controversies remain as to the optimal timing for prophylactic thyroidectomy. The current recommendation is for prophylactic total thyroidectomy before age 5, but a recent study suggested that in the ethnic Chinese, even “high risk” mutations did not result in early malignant change, and it was suggested that prophylactic thyroidectomy may be performed at a later age.Duodenum inversum: A report and review of the literature
Duodenum inversum is a rare congenital malformation defined by a duodenum which travels superiorly and then posteriorly prior to crossing the midline above the pancreas. It is often confused with other, more common, anomalies of intestinal rotation. We present a case of duodenum inversum diagnosed incidentally in a one-month old infant with Trisomy 21 during evaluation for reflux disease. Due to an inability to definitively rule out malrotation, the diagnosis was confirmed with a diagnostic laparoscopy.Acute gastric volvulus: An unreported long-term complication of pericardial drainage
We report the case of a girl who had tetralogy of fallot (TOF) repaired at birth without any associated diaphragmatic hernia. At the age of 2½ years, she experienced an upper gastrointestinal occlusion. At laparoscopy an organoaxial gastric volvulus was observed related to a peritoneal adhesion secondary to pericardial drainage that had been performed at the time of the TOF repair. After reduction of the volvulus, a phrenofundopexy was done. Postoperatively, the child has remained asymptomatic with a follow-up of 24 months.Urothelial polyps from anterior urethra in a prepubertal female child: a rare entity
Urothelial polyps arising from the anterior urethra are rarely encountered in the pediatric age group and are even rarer in the females. Scarcely reported in English literature, their exact incidence is not known. They may be asymptomatic for years or present with features of urinary obstruction, mass or “vaginal” bleeding. They are important in the differential diagnosis of interlabial masses in female children. Anterior urethral polyps are benign fibroepithelial lesions. Surgery is indicated for relief of symptoms and differentiation from malignant lesions such as a sarcoma or a papilloma.Mechanical occlusion of the inferior vena cava: An early complication after repair of pectus excavatum using the Nuss procedure
The Nuss procedure is the most widely used surgical procedure to correct pectus excavatum. Although it is a minimally invasive approach, a number of major early complications, such as heart perforation, have been reported. We describe a 15-year-old boy in whom acute occlusion of the inferior vena cava developed after a Nuss repair. The diagnosis was confirmed by emergency postoperative CT examination, and treatment consisted of immediate removal of the Nuss bar.A case of frozen pelvis: Primary actinomycosis of urinary bladder in a young boy
We report a case of urinary bladder actinomycosis in childhood. In children abdominal actinomycosis is rare and unlikely involves the urinary tract, so it is often misdiagnosed. An 7-year-old boy was referred to a secondary level hospital because of abdominal pain and dysuria. Physical examination revealed a left hypochondrial mass. Hypothesizing a pelvic rhabdomyosarcoma, a biopsy with mini-laparotomy access was performed. The first histopathological analysis did not show any malignant cells, and a 14-day antibiotic course was ineffective.Repair of a floating sternum with autologous rib grafts and polylactide bioabsorbable struts in an 18-year-old male
Failed regeneration of costal cartilage after open repair of pectus chest wall deformities can result in a floating sternum. A floating sternum can be repaired by insertion of a rib graft between the rib and sternum, and stabilization with a metal strut. The metal implant is usually removed with a second operation. We report use of bioabsorbable struts to stabilize rib grafts during repair of a floating sternum in an 18-year-old male with a failed open repair of pectus carinatum. He had an uncomplicated peri-operative course.Congenital mesenchymoma of tibia: Case report and review of literature
Fibrocartilaginous mesenchymoma is a rare bone tumor arising from long bones in children and adolescents. With only 21 cases reported in the literature, it is often not included in the differential diagnosis in patients with a bone tumor. Previously, the youngest case reported was in a 19-month-old boy, and a congenital variant had not been reported. We describe a case of congenital fibrocartilaginous mesenchymoma of the proximal tibia that presented shortly after birth. Biopsy of a suspected malignancy on imaging confirmed the diagnosis.A rare cause of acute abdominal pain in adolescence: Hydrosalpinx leading to isolated torsion of fallopian tube
Torsion of the fallopian tube accompanying hydrosalpinx is a rare occurrence in the pediatric population. This report describes a 13 year old sexually inactive girl with isolated tubal torsion due to hydrosalpinx. The girl had lower left abdominal pain for two days. The physical examination revealed left lower quadrant tenderness with a firm round anterior mass on rectal examination. Abdominal ultrasound showed left tubal enlargement with free pelvic peritoneal fluid. Magnetic Resonance Imaging (MRI) showed engorgement and dilatation of the left fallopian tube without contrast enhancement suspicious of tubal torsion.Curious foreign body in the bladder of an adolescent
We report the case of a 14 year old boy who presented at our emergency department because of increasing alguria and dysuria one year after inserting a wire cable into his bladder for autoerotic purposes. Endoscopic transurethral removal of the foreign body proved to be impossible because the cable was of a stiff consistency and was trapped in scar tissue at the bladder neck. The foreign body therefore had to be extracted using a Pfannenstiel approach. Urethrocystoscopy and uroflow performed one week later were normal.Massive pneumatic expansion of lymphatic vessel resulting in cystic lesions in the pulmonary parenchyma: A rare case of persistent interstitial pulmonary emphysema in a non-ventilated infant
We report the case of 2-week-old female infant with cystic lung disease who presented with mild tachypnea and had no history of mechanical ventilation. Chest CT demonstrated multiple air-filled cystic lesions in right upper lobe, and the patient subsequently underwent a right upper lobectomy. Histology revealed cystic lesions located in the pulmonary parenchyma and showed that the lesions were lined by lymphatic endothelium and were communicating with dilated lymphatic vessels in the interstitium.A case report: Pulmonary venous malformation complicated with pulmonary hemorrhage
Pulmonary venous malformation is extremely rare. We present imaging and clinical findings of a 17-year-old male with multifocal subcutaneous venous malformations and multiple cystic lesions in the liver and spleen, suggestive of slow flow vascular malformation. In the right lung, chest radiography followed by chest CT demonstrated large tortuous pulmonary veins and cystic emphysematous changes. Tc99m-MAA (pertechnetate-labeled macroaggregated albumin) lung perfusion scan demonstrated only 3% of normal perfusion to the right lung, with no evidence of arteriovenous shunting.Infected urachal cyst secondary to a Crohn's enterourachal fistula
Enterourachal fistulas are exceedingly rare in Crohn's patients. We report a case of a presumed enterourachal fistula that led to an infected urachal cyst. Preoperative medical treatment obliterated the fistula and avoided the need to resect bowel at the time of operation. We recommend consideration of this diagnosis in a Crohn's patient with a midline abdominal mass.Surgical treatment of inspissated bile syndrome using a 2-stage pure laparoscopic approach: A case report
We describe a 99-day old girl with inspissated bile syndrome (IBS) unresponsive to treatment with oral ursodeoxycholic acid. We performed a pure laparoscopic 2-stage procedure, consisting of cholecystostomy and insertion of an indwelling balloon catheter for local ursodeoxycholic acid flushing for 13 consecutive days. Subsequently, the cholecystostomy was removed, preserving the gallbladder using the same laparoscopical approach when bilirubin values returned to normal and bile duct obstruction was no longer detectable radiologically.Development of supravalvular pulmonary artery stenosis following a Nuss procedure
We report a case of a 13-year old girl with pectus excavatum who had a Nuss procedure and two years later a new cardiac murmur appeared which on investigation was diagnosed as supravalvular pulmonary artery stenosis. Following removal of the Nuss bar the stenosis resolved.Popliteal pseudoaneurysm caused by Nora's lesion of the femur in a young child: A rare presentation and first report
Bizarre parosteal osteochondromatous proliferation (BPOP), or Nora's lesion, was first described by Nora et al. in 1983 as a rare, tumor-like lesion involving the bones of the hands and feet. Popliteal artery pseudoaneursyms in the pediatric population are also unusual. Here, we present a case of a young male with a popliteal artery pseudoaneurysm and distal femur lesion originally thought to be an osteochondroma. A 10-year old, Caucasian male was referred to our facility following an MRI concerning for a popliteal artery pseudoaneurysm.Lymphoepithelial cyst of the pancreas in female children—report of two cases
Lymphoepithelial cyst (LEC) of the pancreas is almost always reported as a case report or in small series mostly in male adult patients with vague clinical manifestations and difficult pre-operative diagnosis. Between the years 2007 and 2012, two female children with LEC of the pancreas were operated on at the Children's Surgical Unit of Murtala Mohammad Specialist Hospital, Kano in northern Nigeria. Satisfactory outcomes were achieved after distal pancreatectomy and splenectomy in one and a Whipple procedure in the other.Chronic biloma after right hepatectomy for stage IV hepatoblastoma managed with Roux-en-Y biliary cystenterostomy
We report the complex case of a 12-month-old girl with stage IV hepatoblastoma accompanied by thrombosis and cavernous transformation of the portal vein. After neoadjuvant chemotherapy, she underwent right hepatectomy, which was complicated by iatrogenic injury of her left hepatic duct, and subsequently developed a postoperative biloma and chronic biliocutaneous fistula. Concomitant with multiple percutaneous interventions to manage the biloma nonoperatively while the child completed her adjuvant chemotherapy, she progressed to develop chronic malnutrition, jaundice, and failure to thrive.Double H-type tracheoesophageal fistulas identified and repaired in 1 operation
Isolated tracheoesophageal (“H-type”) fistula is a relatively uncommon congenital anomaly that can be difficult to identify and, at times, challenging to repair. We present a very unusual case of an infant with 2 distinct H-type tracheoesophageal fistulas (TEFs) identified and repaired in 1 operation. A newborn male infant presented with coughing with feeds. Contrast esophagram demonstrated an intrathoracic H-type fistula without esophageal atresia. In the operating room, rigid bronchoscopy was performed, and a second TEF was identified in the cervical region.Stump appendicitis after childhood incidental appendectomy
Stump appendicitis is a rare late complication of appendectomy. Most cases present months to years following surgery for acute appendicitis. Cases of stump appendicitis after incidental appendectomy are very rare. We present a case of stump appendicitis after incidental appendectomy during a procedure for duodenal obstruction as an infant.Laparoscopic management of colonic complications in Ehlers-Danlos syndrome type IV
Ehlers-Danlos syndrome type IV, also known as the vascular type, is the most severe form of the disease. It may cause spontaneous bowel perforation and rupture of major arteries. The treatment of bowel perforation in this population remains controversial because they are at risk for major wound complications owing to poor healing. We report the first use of laparoscopy in children with Ehlers-Danlos syndrome.Management of pulse oximeter probe–induced finger injuries in children: report of two consecutive cases and review of the literature
Pulse oximetry is a standard noninvasive procedure for monitoring arterial oxygen saturation. Finger injuries related to pulse oximeter use have been reported as chemical or thermal burns, sun-tanning, pressure erosion, sensory loss, and gangrene. The mechanisms of these complications have not been definitively explained; but pressure ischemia, prolonged use, overheating of the probe, inappropriate use of the probe, and short circuiting are considered to be the main factors. We describe 2 cases of pulse oximeter probe–induced finger injuries, propose the possible mechanisms and factors related to the injury, and discuss the management.Wandering liver: ultrasound and magnetic resonance imaging diagnosis
“Wandering liver” describes an excessive mobility of the liver caused by abnormalities of hepatic fixation that could lead to hepatic pedicle torsion or bowel obstruction. It is considered a rare entity, but because of the evolution in medical imaging techniques, this unusual condition is being identified more often. We report 2 cases presenting with chronic vague abdominal pain, diagnosed by abdominal ultrasonography and the use of cine–magnetic resonance imaging sequences with dynamic maneuvers.Endoscopic management of a duodenal duplication cyst
Gastrointestinal duplications are rare congenital anomalies. Five percent to 10% of them are found in the duodenum. Traditionally, these lesions are treated surgically using either a laparoscopic or open transduodenal approach. We present the successful endoscopic treatment of a symptomatic duodenal duplication cyst in a 9-year-old girl.Bilateral pharyngeal apparatus (branchial) sinuses in a set of identical twins — a case report
Defective closure of the pharyngeal apparatus during the second week of gestation results in pharyngeal arch anomalies. Although pharyngeal apparatus (branchial) anomalies are frequently seen, bilateral cases are rare (only 2% to 3%). Bilaterality has a familial predisposition. Our patients, a set of identical twins, presented with bilateral discharging cervical sinuses noticed at 3 months of age. Physical examination was suggestive of bilateral pharyngeal apparatus (branchial) sinuses. Both patients were managed with surgical excision in the same operative sitting.Brachial plexus palsy, a rare delayed complication of the Nuss procedure for pectus excavatum: a case report
We report a rare complication after the Nuss procedure for the correction of pectus excavatum in a 15-year-old adolescent boy. He began to have delayed right brachial plexus injury on the 15th postoperative day. Careful physical check-up revealed a painful and enlarged subaxillary lymph node. He was successfully treated using anti-inflammatory medications and physical therapy.Hepatic mesenchymal hamartoma in a neonate with a Bochdalek diaphragmatic hernia: A case report
The Bochdalek diaphragmatic hernia (BDH) is a common birth defect that is associated with other congenital malformations. Hepatic mesenchymal hamartoma (HMH) is the second most common benign hepatic tumor in children. The association between BDH and HMH or ectopic hepatic tissue is uncommon. We report a case of a female newborn with a left BDH that at surgery was incidentally found to have a tumor of 3.5 cm in maximum dimension with a serous muscular membrane. The histopathological study revealed vascular–mesenchymal stroma with bile ducts entrapped and peripheral normal hepatic tissue.Pancreatic hydatid cyst masquerading as a choledochal cyst
A 6-year-old boy presented with repeated attacks of fever, abdominal pain, and obstructive jaundice. Clinical examination and preoperative imaging suggested the diagnosis of a type I choledochal cyst. During surgery, a hydatid cyst was found occupying the head of pancreas, causing obstruction of the common bile duct. The authors emphasize that in endemic areas, hydatid cyst should be included in the list of conditions in the differential diagnoses of obstructive jaundice and cystic lesions located around the bilio-pancreatic junction in children.Cystic mesenchymal hamartoma arising in intrathoracic heterotopic liver: A case report
Intrathoracic heterotopic liver tissue is an exceedingly rare clinical entity. In most patients, it is associated with other congenital defects, including cardiac anomalies, congenital diaphragmatic hernia, pectus excavatum, and intralobar pulmonary sequestration. Although heterotopic liver could potentially lead to the same benign liver diseases that can affect the mother liver, the association of heterotopic liver tissue with tumors in childhood is extremely rare. We describe a unique case of cystic mesenchymal hamartoma arising from an intrathoracic heterotopic liver that was found incidentally during a diaphragmatic eventration repair.Transrectal small bowel evisceration after abdominal crush injury
Transrectal small bowel evisceration (TSBE) is a rare entity that can occur after traumatic injuries. It has been described after impalement, sexual assault, blunt abdominal trauma, and swimming pool drain suction. The authors encountered such a case in a 4-year-old by following a crush abdominal injury. A laparotomy was performed. The eviscerated bowel was pulled inside the abdominal cavity, revealing the rectal perforation. A portion of devascularized ileum was resected, a primary bowel anastomosis was performed, and the longitudinal rectal laceration was repaired with a two-layered closure.Extralobar pulmonary sequestration with an unusual venous drainage to the portal vein: preoperative diagnosis and excision by video-assisted thoracoscopy
Pulmonary sequestration is an uncommon congenital malformation of the lung that can be classified as intralobar or extralobar (ELS). Approximately 90% of ELS occur in the left hemithorax. Approximately 10% of ELS may present below the diaphragm. Both types of sequestrations are characterized by pulmonary tissue that does not communicate with the bronchial tree. The arterial blood supply to 80% ELS is through a direct branch of the thoracic or abdominal aorta, in 15% via another systemic artery and 5% from the pulmonary artery.Bilateral xanthogranulomatous funiculitis and orchiepididymitis in a 13-year-old adolescent boy
Xanthogranulomatous orchitis is an extremely rare inflammatory nonneoplastic lesion of the testis. We report a case of a 13-year-old adolescent boy who presented a painless left hemiscrotal swelling. The subsequent ultrasonography and magnetic resonance imaging revealed the presence of abnormal expanding tissue located in both testes and spermatic cord, reaching the internal inguinal ring. Testicular tumor markers were normal. The frozen section examination of the surgical specimen showed only inflammatory tissue and not neoplastic tissue.Flexible bronchoscopic cannulation of an isolated H-type tracheoesophageal fistula in a newborn
Congenital isolated H-type tracheoesophageal fistula (H-TEF) is a rare malformation of the airways. Surgery should not be delayed once the diagnosis is established. Identification of the fistula during surgery is a prerequisite for a successful outcome. Intubation or cannulation of the H-TEF with a catheter can help the surgeon to identify the fistula. A rigid bronchoscope is generally used for cannulation of the fistula. Cannulation of an H-TEF in a newborn with a flexible bronchoscope has the merit of simplicity and safety.Hydrothorax following delayed extravascular migration of a totally implantable venous access device in a child
Totally implantable venous access devices are widely used in pediatric oncology. The authors encountered a 10-year-old boy with implantation of the device at the age of 7 years owing to acute lymphoblastic leukemia. In the recent half-year, the device was not used except for regular heparin flushing. However, hydrothorax occurred when fluid therapy was required from the device during this admission. Thoracoscopic approach showed extravascular migration and intrapleural malposition of the catheter.Post–serial transverse enteroplasty bowel redilatation treated by longitudinal intestinal lengthening and tailoring procedure
The serial transverse enteroplasty (STEP) is a safe and successful procedure to lengthen the small bowel. Several patients develop postoperative bowel redilatation with loss of bowel adaptation. We describe a 2-month-old male infant with short bowel syndrome who developed dilatation of the lengthened segment after STEP, which was successfully treated by a longitudinal intestinal lengthening and tailoring procedure. To the best of our knowledge, this is the first described case of longitudinal intestinal lengthening and tailoring procedure after STEP.Pelvic Wilms tumor in a child with an absent right kidney and spinal malformations
Wilms tumor rarely occurs in other sites outside the kidney. Various congenital malformations often accompany Wilms tumor, but spinal deformations are rarely seen. We report a very rare association of multiple spinal malformations, right kidney absence, and pelvic Wilms tumor in a 21-month-old girl. The report includes a brief review of relevant literature.Perinatal hemorrhage complicating neonatal hepatoblastoma: case report
Hepatoblastoma is the most common malignant liver tumor of infancy and presents most frequently at a median age of 18 months. Presentation in the neonatal period is rare, and there are very few reports of an antenatal diagnosis of hepatoblastoma. We recently encountered a neonate who presented with hemoperitoneum after rupture of a congenital hepatoblastoma during vaginal delivery. After successful right hepatectomy and adjuvant cis-platinum–based chemotherapy, the child is doing well. We draw attention to rarity of this condition and difficulty in definitively establishing a diagnosis both in the antenatal and neonatal periods and discuss the management dilemmas in congenital presentations of hepatoblastoma.Colon perforation caused by a foreign body in Hirschsprung disease
Accidental ingestion of foreign bodies is a common emergency in the pediatric population. The foreign body generally passes through the whole gastrointestinal system spontaneously without causing an obstruction. This is the first case report in the literature of Hirschsprung disease associated with a radio-opaque foreign body lodged at the site of a perforated sigmoid colon. This case highlights the fact that, in the case of an impacted radio-opaque foreign body in a child, the possibility of an obstructive congenital anomaly should be kept in mind in the differential diagnosis.Intraosseous angioma: a rare cause of a rib mass in childhood
Rib tumors are uncommon and represent 5% to 10% of all bony tumors. Regarding the benign rib lesions, costal angioma is very rare in childhood. We report a case of a rare angioma of a rib complicated by bone erosion in a young boy.Early diverting colostomy for perianal sepsis in children with acute leukemia
Perineal sepsis is a life-threatening complication of acute leukemia. Although conservative management (antibiotics, incision, and drainage, alone or in combination) is considered the criterion standard, it provides an outcome that is not fully satisfactory, with an overall mortality of roughly 30%. This report presents a case series of 4 children who underwent early defunctioning colostomy for the treatment of perineal sepsis during leukemia. This management proved to be successful and allowed prompt reestablishment of chemotherapy, thus improving overall results.
