Jarcho-Levin syndrome presenting with diaphragmatic hernia.

Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple vertebral anomalies. The prognosis is directly related to respiratory complications. Reported findings associated with Jarcho-Levin syndrome include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and neural tube defects. We report on a 6-day-old girl who presented with an incomplete form of Jarcho-Levin syndrome with late-presenting congenital diaphragmatic hernia and congenital heart disease.

Subcutaneous emphysema and pneumomediastinum due to foreign body aspiration.

Pneumomediastinum is a result of perforation of the tracheobronchial tree. When air enters the interstitial space, air diffuses along the perivascular sheaths toward the mediastinum. If an air leak persists, subcutaneous emphysema occurs owing to the continuous leakage of air. Foreign body aspiration rarely causes pneumomediastinum and subcutaneous emphysema. Removal of the foreign body results in a resorption of air and the resolution of symptoms. Here, we present a rare case of foreign body aspiration in a 2-year-old patient who presented with pneumomediastinum and subcutaneous emphysema.

Preliminary experience with tracheal stent application in children with tracheal stenosis.

Tracheobronchial stenosis in infants and small children is a frustrating lesion for both the pediatric surgeon and the patient and his or her family. Different surgical methods have been described to treat stenoses. Recently, tracheal stents have been introduced to relieve the airway obstruction in these patients. Here, we present 6 patients (2 newborns, 3 infants, and 1 three-year-old) with tracheal or bronchial obstructions treated with age-specific Palmaz balloon-expandable tracheal stents. One patient died due to sepsis. One patient's stent was removed successfully. No other problems occurred in the other 4 patients during 4 to 12 months of follow-up.

Spontaneous rupture of extrahepatic choledochal cyst: two pediatric cases and literature review.

Spontaneous rupture of extrahepatic choledochal cysts is very rare. Neonatal cases generally present with biliary ascites, and older children with acute abdomen. Although the cause is unclear, accumulation of protein plugs in an anomalous pancreaticobiliary junction, irritation of the cyst wall due to reflux of pancreatic juice, and weakness due to a developmental error such as common channel syndrome have all been suggested to play contributing roles. The treatment of choice is complete excision of the cyst and hepatico-jejunostomy. In newborns who are in a poor condition, the primary treatment should be simple peritoneal drainage.

A very unusual presentation of Niemann-Pick disease type B in an infant: similar findings to congenital lobar emphysema.

The main features of Niemann-Pick disease type B (NPD-B) are enlargement of the liver and spleen, and mild pulmonary involvement. Recurrent respiratory tract infection and progressive decline in pulmonary function are major contributors to morbidity and mortality in this patient group. Massive pulmonary involvement in early life is extremely rare. The most common finding on chest X-rays of NPD-B patients is reticular or nodular infiltration of the lungs. This article describes a very rare presentation of NPD-B in an infant who had suffered recurrent respiratory tract infections. Massive emphysema and marked infiltrative parenchymal changes (infiltration of the parenchyma) were initially attributed to congenital lobar emphysema and its compressive effects. However, NPD was suspected when a lung biopsy showed foamy cells and sea-blue histiocytes were detected in a bone marrow biopsy. The definitive diagnosis was established with an enzyme study for sphingomyelinase.

Tubo-ovarian abscess in a sexually inactive adolescent patient.

Tubo-ovarian abscess as a complication of acute salpingitis or salpingo-oophoritis is very uncommon in pre-menarchal and/or sexually inactive girls. It is generally the result of a blood-borne or genitourinary infection. Early diagnosis and treatment are essential to prevent future sequelae causing infertility. Laparoscopic surgery which minimises postoperative complications should be the first option in the treatment of TOA.

Urethral catheterization in hypospadias surgery: Should the device enter the bladder or be made a urethral stent?

BACKGROUND: Although bladder catheterization causes contractions, accidental removal and urinary retention are risks of stents in hypospadias repair. METHODS: An 8F feeding tube was used as a stent in 22 patients (group I). In the other 22 patients (group II), the same size catheter was passed into the bladder, and oxybutynin chloride was administered. The elapsed time to first voiding, pain, and straining was observed in group I and the groups were compared regarding time of catheter removal, accidental removal of catheter/stent, hospital stay, and complications. RESULTS: All stented patients strained at first voiding. Nineteen showed pain, and only 5 voided in the first 8 hours. The catheterized group had no such problems. Time of catheter/stent removal and hospital stay were similar. Three stents were dislodged in patients with significant straining. Meatal stricture was noticed in 5 and 3 patients and fistula in 5 and 2 patients of group I and II, respectively. Complications were significant in patients whose stents were removed accidentally. CONCLUSIONS: Stenting led to significant patient irritability with voiding problems. The authors believe that this caused displacement and accidental removal of the stent and eventually resulted in meatal stenosis and fistula. The findings show that bladder catheterization prevents these complications. J Pediatr Surg 36:1829-1831.

Acute abdomen caused by Salmonella typhimurium infection in children.

Salmonella spp. infections can be particularly challenging when they manifest as acute abdominal problems and lead to emergency surgery. Examples of such serious conditions are Salmonella-related intestinal perforation, gallbladder involvement, salpingitis, and peritonitis. Mesenteric lymphadenitis associated with Salmonella typhimurium mimics acute appendicitis and can make it difficult to establish a timely and definitive diagnosis in young patients who present with right lower abdominal pain. Paralytic ileus is a fairly common manifestation of Salmonella infection at all ages, but complete intestinal obstruction requiring surgical intervention is very rare. Because of the nature of the diagnostic process, a significant number of patients with Salmonella infection present with acute abdomen and undergo needless operations. This report describes the cases of 2 pediatric patients who underwent surgery to address persistent pain in the right lower abdominal quadrant and complete intestinal obstruction, respectively. The first patient had inflamed mesenteric lymph nodes that caused appendicitislike symptoms, and the second had dense adhesions between the mesentery and the terminal segments of the ileum that led to intestinal blockage. Serology results showed that both patients' titers for BO ("B and O agglutinating [BO]") antibodies rose to 1:640 in the week after their admission to hospital, a pattern and level that is indicative of S typhimurium infection. J Pediatr Surg 36:1849-1852.

Cystic Meckel's diverticulum: A rare cause of cystic pelvic mass presenting with urinary symptoms.

An atypical form of Meckel's diverticulum is presented. A 5-year-old girl was admitted with recurrent urinary tract infections. Ultrasonography showed a cystic mass, which pressed and displaced the urinary bladder on its posterosuperior aspect. Laparotomy results showed a cystic mass originating from the antimesenteric border of the ileum, which was attached tightly to the urinary bladder. It was diagnosed as a cystic Meckel's diverticulum, which had undergone abscess formation with preservation of the ileal mucosa in some areas and had severe inflammatory changes on its wall. The case is unique both in the mode of presentation and type of complication. J Pediatr Surg 36:1855-1858.

Anterior abdominal wall malignant peripheral nerve sheath tumor in an infant.

Malignant peripheral nerve sheath tumors (MPNST), also known as malignant schwannomas, are highly malignant lesions that tend to arise in the head and neck region or on the extremities, and only rarely in the retroperitoneum. These tumors are not common in children. Almost 50% of cases are associated with neurofibromatosis. When these neoplasms arise in the retroperitoneum, they usually are difficult to diagnose and to treat. Although various radiologic imaging methods are helpful for identifying some features of the mass, definitive diagnosis requires histologic examination and immunohistochemical staining. After treatment, the tumor recurs in 25% of patients. Five-year survival rates as high as 80% have been reported. Total excision, lack of invasion of surrounding tissues and vessels, and absence of neurofibromatosis, are features associated with better outcome. The authors present the case of a 1-month-old boy who had malignant schwannoma diagnosed in a unique location over the peritoneum of the anterior abdomen. The location and rapid growth of the tumor permitted early identification and total excision. J Pediatr Surg 36:1866-1868.

Lumbosacral extrarenal Wilms' tumour: a case report and literature review.

UNLABELLED: Occurrence of extrarenal Wilms' tumour (WT) is very exceptional and the diagnosis is almost always made after surgical intervention. The tumour can be located in the retroperitoneum, uterus, cervix, testes, skin and even in the thorax. The exact mechanism whereby a WT occurs in extrarenal tissues is not known. The presence of ectopic metanephric blastema cells or the WT gene that cause transformation of extrarenal primitive mesonephric or pronephric remnants into WT are both considered in the embryogenesis. Although ultrasonography and CT scan are both helpful in the definition of retroperitoneal tumours, there is no characteristic finding to diagnose an extrarenal WT before surgery. However the histological characteristics are the same as in intrarenal WT, a retroperitoneal teratoma should be clearly investigated for a possible admixture of WT cells. Patients with extrarenal WT are given the same treatment protocol as patients with stage III WT. In this paper, a 5-year-old female patient with an extrarenal WT located in the lumbosacral region is presented. CONCLUSION: as a rule, diagnosis of extrarenal Wilms' tumour is made after surgery. Surgical excision is the treatment of choice and the same general therapeutic rules should be followed as when the kidney were affected. Stage III guidelines for chemotherapy and radiotherapy are appropriate in these patients.

Fine needle aspiration biopsy of thyroid nodules.

BACKGROUND: Fine needle aspiration biopsy (FNA) is a routine diagnostic technique for evaluating thyroid nodules. Many reports in adults consider that FNA is superior to thyroid ultrasonography (USG) and radionuclide scanning (RS). Only five studies have been published on FNA of childhood thyroid nodules. AIMS: To investigate the reliability of FNA in the evaluation and management of thyroid nodules, and compare the results of FNA, USG, and RS with regard to final histopathological diagnosis. METHODS: FNA was performed in 46 children with thyroid nodules after USG and RS examination. We investigated the sensitivity, specificity, accuracy, and positive and negative predictive values of USG, RS, and FNA in their management. RESULTS: Six patients who had malignant or suspicious cells on FNA examination underwent immediate surgery. The other 40 patients received medical treatment according to their hormonal status. Fifteen of these nodules either disappeared or decreased in number and/or size. Surgery was performed in 25 patients who did not respond to therapy. Statistical analysis revealed sensitivity, specificity, accuracy, and positive and negative predictive values respectively as follows: 60%, 59%, 59%, 15%, and 92% for USG; 30%, 42%, 39%, 12%, and 68% for SC; 100%, 95%, 95%, 67%, and 100% for FNAB. CONCLUSION: FNAB is as reliable in children as in adults for definitive diagnosis of thyroid nodules. Using this technique avoids unnecessary thyroid surgery in children.

Successful heterotopic segmental liver transplantation from a live donor to a patient with Alagille syndrome.

Alagille syndrome is characterized by a paucity of bile ducts in the liver. The syndrome is associated with some or all the features of chronic cholestasis, cardiac disease, skeletal abnormalities, ocular defects and a distinctive facial appearance. The most common finding is chronic cholestasis, which causes intractable pruritus, xanthoma, deficiency of certain metabolic nutrients and growth retardation. Cardiac abnormalities are the most common cause of death in these patients. It is unusual to see the clinical picture of hepatic failure resulting in cirrhosis and requiring transplantation, but liver transplantation is indicated in Alagille syndrome patients who have chronic cholestasis. If the disease is diagnosed in childhood, transplantation can improve significantly the patient's prognosis and the quality of life. In recent years, auxiliary liver transplantation has gained popularity for treating both acute and chronic liver disease. Heterotopic segmental liver transplantation is an alternative treatment modality for patients who do not require native liver removal. Individuals with Alagille syndrome are good candidates for this type of treatment. J Pediatr Surg 36:667-671.

An unusual complication of suprapubic catheterization with Cystofix: catheter knotting within the bladder.

Cystofix is commonly used to drain urine temporarily from the bladder. Common complications are hematuria, bladder wall edema and bladder spasm due to irritation by the catheter itself. A case is described where a Cystofix catheter became curled and knotted inside the bladder, probably due to deep introduction or increased detrussor contraction occurring with the irritation of the bladder wall.

Testicular tissue bleeding as an indicator of gonadal salvageability in testicular torsion surgery.

OBJECTIVE: To investigate the reliability of using bleeding from the cut surface of testicular tissue during surgery for testicular torsion to assess testicular viability, compared with the duration of symptoms and preoperative findings on testicular Doppler ultrasonography (DUS). PATIENTS AND METHODS: The study comprised 19 children with testicular torsion who underwent surgery; all underwent DUS before surgery. During surgery the tunica vaginalis of the affected gonad was incised and a deep incision made through the medulla after obtaining a wedge biopsy for histological examination. After waiting up to 10 min to assess any fresh arterial bleeding from the cut surface, the patients were categorized using three grades; grade I (sufficient bleeding, i.e. bleeding or oozing when the biopsy was obtained); grade II (insufficient bleeding, no bleeding immediately after the incision but starting within 10 min); and grade III (no bleeding within 10 min). The final surgical decision on whether to save the testis was made according to the grade of testicular tissue bleeding; grade I and II testes were saved and grade III testes were removed. The biopsies were histopathologically examined and classified as haemorrhagic, necrotic or indeterminate. The patients were followed up at 15 days and at 1, 3, 6 and 12 months, with the affected testis examined using DUS. At the end of the study, the sensitivity and specificity of the duration of symptoms, characteristics of blood flow on DUS and grading of testicular tissue bleeding at surgery were calculated for predicting testis viability, using the histopathological diagnosis as the reference standard. RESULTS: The sensitivity, specificity, positive and negative predictive values were respectively 100%, 90%, 90% and 100% for a duration of symptoms of > 10 h, 78%, 80%, 78% and 80% for DUS findings, and 100%, 78%, 83% and 100% for testicular tissue bleeding in predicting gonad viability after torsion, respectively. CONCLUSION: Although the 10 h limit for the duration of symptoms seems a more accurate predictor of the fate of a twisted testis than were the other variables, testicular tissue bleeding may also be a good indicator of gonadal viability during surgery. The surgeon should wait up to 10 min after incising the testicular tissue deep to the medulla before deciding the type of surgery. In cases where bleeding from the cut surface is sufficient or insufficient (according to the proposed grading system), orchidopexy is the treatment of choice. The salvaged testes should be assessed during follow-up, especially in those who had had insufficient bleeding at surgery and/or a duration of symptoms > 10 h, to assess for any delayed damage to the untwisted testis. If no bleeding is seen during surgery the best option is to remove the affected testis.

Sliding appendiceal inguinal hernia with a congenital fibrovascular band connecting the appendix vermiformis to the right testis.

It is not uncommon to find the appendix vermiformis within a hernia sac; however, sliding appendiceal inguinal hernia is rare. A 9-month-old boy with an incarcerated right scrotal hernia is presented in this case report. Although the hernia was reduced through a conservative approach, appendix vermiformis remained in the hernia sac because of its attachment to the upper pole of the right testis. Exploratory surgery during the inguinal hernia repair revealed a connecting band that extended from the appendix vermiformis into the scrotum and attached to the right testicle. Histologic examination showed that the band was congenital. After reduction of an incarcerated hernia, the persistence of a thickened or a cord-like structure is a warning for the presence of a sliding hernia. We suggest that this uncommon developmental anomaly is likely to cause the processus vaginalis to remain patent, thus facilitating hernia formation.

The place of the technique of narrowing neck of the dartos pouch on the ascent of testis after surgery.

OBJECTIVE: We aimed to compare the three techniques of dartos pouch orchiopexy, suture fixation to the scrotal wall and narrowing of the neck of pouch with or without suture fixation, in regard to the postoperative ascensus of testes. MATERIALS AND METHODS: We operated on 150 unilateral palpable undescended testis with the scrotal pouch orchiopexy technique. In this prospective study, patients were randomly divided into three groups: Testes were fixed to the scrotal wall in the first group, they were placed into the scrotal pouch without fixation but the neck of the dartos pouch was narrowed around the vas deferens and the vessels in the second group and testes were fixed to the scrotum with a suture and the dartos fascial opening was narrowed concomitantly in the third group. RESULTS: Patients were followed between 6 and 48 months (28.0 +/- 11.4). Only four testes of the first group (8.0%) were replaced upward after the operation where all the other two groups' testes were in their places. CONCLUSION: We believe that only narrowing of the dartos fascia around the vas deferens and vessels without fixation to the scotum prevents ascending of the testis upward after orchiopexy operations. We think this technique decrease the risk of supposed damage to the testicular tissue due to suture material.

Percutaneous treatment of hepatic hydatid cysts: an alternative to surgery.

OBJECTIVE: Percutaneous treatment of hydatid cysts is relatively new, and the data related to it are limited. The purpose of this study was to provide additional data to strengthen the proof of its effectiveness. SUBJECTS AND METHODS: One hundred sixty-eight hepatic cysts in 111 patients were treated using a percutaneous approach under sonographic and fluoroscopic guidance. Cysts smaller than 5 cm in diameter were treated with a one-stage procedure that consisted of puncture of the cyst, aspiration of fluid, and injection and reaspiration of hypertonic saline solution. Larger cysts were treated with a two-stage procedure that consisted of the one-stage procedure followed by catheterization and sclerotherapy with alcohol. RESULTS: The mean observation time was 19 months (range, 1-48 months). Follow-up examinations showed progressive shrinkage and solidification of the cysts. Early complications occurred in 32 (28.8%) of the 111 patients, including fatal anaphylaxis in one patient, biliary fistula in seven, infection of the cyst in four, persistent serous drainage from the cyst in two, intraperitoneal leakage of cyst fluid in two, urticaria in seven, fever without evidence of infection in seven, and pleural effusion in two. Late complications occurred in four (3.8%) of the 104 patients who underwent follow-up examinations, including local recurrence in three patients and intrabiliary rupture of a cyst in one patient. CONCLUSION: Our experience indicates that percutaneous treatment is efficient in the management of hepatic hydatid cysts and that this technique should be considered an alternative to surgery.