Delayed referral despite appropriate knowledge in cryptorchidism as a cause of delayed orchidopexies in Austria.

AIM: Guidelines recommend early orchidopexy in cryptorchidism to decrease the risk of infertility and tumor formation. We aimed to asses if a delayed initial presentation for cryptorchidism was due to unawareness of these guidelines or for any other reasons. METHODS: A short questionnaire exploring timing and referral habits when assessing children with cryptorchidism was sent by email to all registered pediatricians in Austria. Comparatively, a chart review of performed orchidopexies was performed at our institution. RESULTS: Of 369 registered pediatricians, 102 (27.6%) returned valid questionnaires. The average maximum age at which pediatricians in Austria suggested treatment of cryptorchidism was the 21.2 (8.4 months standard deviation (SD)) month of life. Assessment of testicular descent was reported to be regularly performed until the 8.8 (3-18 years SD) year of life. In contrast, from 1997-2008, 730 boys were treated surgically for cryptorchidism at our department. The mean age at operation was 3.4 years (3.1 years SD). CONCLUSION: The majority of pediatricians in Austria know the correct timing for treatment of cryptorchidism. Nevertheless, orchidopexies are still carried out to later than suggested by international guidelines. Further studies and analysis to evaluate the reasons for these suboptimal referring patterns coupled with further communication improvements between pediatricians and surgeons are needed.

Prenatal magnetic resonance imaging as a useful adjunctive to ultrasound-enhanced diagnosis in case of a giant foetal tumour of the neck.

Large cervical masses in the prenatal period are rare and can cause life threatening situations after birth. All available diagnostic techniques should therefore be used to determine the best mode of delivery in the case of such malformation. A large cervical mass was detected by ultrasound in a 41-year-old women, gravida 4, para 3, at 29 + 5 weeks of gestation. US imaging was most consistent with the diagnosis of a large cervical teratoma, but it was not possible to sufficiently evaluate the cervical anatomy of the oropharynx and trachea. An MRI scan demonstrated a distorted oropharynx and a trachea displaced to the right and posteriorly, but not detectable from the middle of the neck up to the larynx. Based on these facts, an EXIT procedure was planned and performed at 30 + 5 weeks of gestation. Foetal MRI provided valuable anatomical information for all specialists deciding on the indication and the pre-therapeutic planning of the EXIT procedure.

Fetal ovarian cysts: development and neonatal outcome.

INTRODUCTION: The aim of the study was to evaluate the outcome of fetal ovarian cysts in relation to their size and ultrasonic appearance. METHODS: We retrospectively analysed pre- and postnatal charts of 61 infants with a prenatal diagnosis of ovarian cysts between 1991 and 2000. RESULTS: In a total of 61 fetuses 65 ovarian cysts were detected by transabdominal ultrasound: 35 (57 %) cysts on the left side, 22 (36 %) on the right side and 4 fetuses (7 %) had bilateral cysts. Three patients with uncomplicated cysts were lost to follow-up and one fetus with bilateral cysts died in the 27th week of gestation. In 17 cysts treatment was necessary. 14 cysts (all complicated) were operated after delivery because of persistence or enlargement. The histological results were either follicular or theca lutein cysts in 12 cases, one lymphangioma and one teratoma. Two cysts were aspirated in utero and one after delivery. In the remaining 40 fetuses, 43 cysts where only controlled by ultrasound. 8 cysts regressed before delivery and 35 cysts after delivery independent of their sonographic appearance. The mean diameter of cysts that required treatment was significantly different from the mean diameter of cysts that resolved spontaneously (6.8 [SD 2.4] cm vs. 3.3 [SD 0.8] cm; p < 0.01). CONCLUSION: Complicated cysts which do not regress should be treated either by laparotomy or laparoscopically after delivery. Uncomplicated cysts which exceed 5 cm could be treated by in utero aspiration or aspiration after delivery to avoid further complications. Cysts smaller than 5 cm, presenting the tendency to regress, should be left untouched independent of their sonographic appearance.

Expression of cytokeratin-18-related tissue polypeptide-specific (TPS) antigen in Wilms tumor.

BACKGROUND: So far, there is no approved tumour marker for diagnosis or follow-up in Wilms tumour (WT). Tissue polypeptide-specific antigen (TPS), a cytokeratin 18 proteolytic fragment, has been suggested to be of value in the clinical management of WT patients. Cytokeratin 18 fragments are an early indicator of apoptosis and cytokeratin 18 might influence tumour cell behaviour. We investigated TPS expression in specimens of WT and other paediatric renal malignancies PROCEDURE: Immunoreactivity of WT sections (n = 9), clear cell sarcomas (CCSK, n = 3), and a renal cell carcinoma (RCC), and two pediatric kidney tumour cell lines (WT: SK-NEP-1 and rhabdoid tumour of the kidney: G-401) were investigated using the monoclonal antibody M3. Additionally, immunoblotting and RT-PCR analysis were performed. Cell culture supernatants were evaluated for TPS release. Serum TPS was measured in five patients at diagnosis, during chemotherapy and after surgical resection. RESULTS: Moderate to strong immunoreactivity for TPS was found in tubular and blastemal components of nearly all (8/9) WT specimens. This was confirmed by Western-blotting. Cystic and epithelial-like portions of CCSKs and RCC showed distinct reactivity (3/3). The supernatant of G-401 but not of SK-NEP-1 showed a time- and cell number-dependent increase of TPS release. Interestingly, TPS synthesis was demonstrated in SK-NEP-1 cells. Median preoperative serum TPS was elevated (293 U/l) compared to healthy children and lowest after surgical resection (49.5 U/l). CONCLUSIONS: This is the first study demonstrating the synthesis and release of TPS by WTs and other paediatric renal malignancies. Considering the elevated levels of TPS in serum of these patients, a further investigation of this marker by larger clinical trials seems to be justified.

Intratumoural heterogeneity of 1p deletions and MYCN amplification in neuroblastomas.

BACKGROUND: At least three genetic hallmarks identify aggressive tumour behaviour in neuroblastomas; amplification of the oncogene MYCN; deletion (loss of heterozygosity [LOH]) at the short arm of chromosome 1 (del1p36), seen in approximately 28% of the cases; and di-tetraploidy. The MYCN oncogene is amplified in approximately 23% of all neuroblastomas and becomes important for the stratification of therapy in localised and 4s tumours. Up to now, it has been believed that the genetic constellation of neuroblastic tumours is stable and does not alter during tumour evolution or during tumour progression. PROCEDURE: Using fluorescence in situ hybridisation techniques (FISH) to investigate different tumour areas on touch preparations and histological sections, we show that genetic heterogeneity can be detected in neuroblastomas, especially in tumours detected by urinary mass screening. CONCLUSION: The identification of such cell clones is important, because the MYCN amplification and/or the deletion at 1p36 appear to be responsible for aggressive local growth and development of metastases.

Bilateral Wilms' tumor--surgical aspects.

Four to eight percent of all Wilms' tumors are bilateral. Achieving curative resection of such tumors by partial nephrectomy or tumor enucleation while maintaining sufficient renal function represents a surgical challenge. Effective preoperative chemotherapy facilitates this aim considerably. Seven patients who were diagnosed to have bilateral synchronous Wilms' tumors between 1990 and 1994 are being reviewed. At the time of initial diagnosis, their mean age was 24.4 months, range 7 to 45 months. In 4 cases, pre-operative imaging did not reveal the full extent of the lesions, and in one of these, involvement of the second kidney was only detected by surgical exploration. Five of the children received at least 4 weeks of neo-adjuvant chemotherapy without primary biopsy, followed by bilateral tumor resection. One child had to be operated on as an emergency without any preliminary treatment, and in one, chemotherapy was interrupted after 3 weeks because of veno-occlusive disease. After a follow-up period of 66 months on the average (range 50 to 81 months), five of the patients are free of recurrence and clinically well--one with a kidney graft. The remaining two patients have died. Discussion is focussed on different management strategies of this rather rare pathology considering SIOP und NWTS protocols.

Solid-pseudopapillary tumor of the pancreas (Frantz tumor) in children: report of four cases and review of the literature.

BACKGROUND: Solid-pseudopapillary tumor of the pancreas (SPT) is an exceptionally rare neoplasm in children. Its origin remains enigmatic. It is of low malignant potential and occurs most frequently in young females. PATIENTS AND METHODS: A cumulative review of the tumor's clinicopathological characteristics from the world's literature is presented. The clinical course, pathohistologic data and outcome of surgery of four Austrian children treated at the general hospital of Vienna are analyzed. RESULTS: Between 1987 and 1999, four girls (age: 12--16 years) with SPT were diagnosed at our institution. All patients presented with an abdominal mass and uncharacteristic abdominal pain. Two tumors were located in the tail, one in the body and tail and one in the head of the pancreas (diameter: 7--15 cm). Surgical procedures included three distal pancreatectomies and one partial duodenopancreatectomy (Whipple procedure). One patient had two recurrences with metastases that could only be partially resected. Chemotherapy was initiated for this patient. In the follow-up period (range: 6 months to 12 years) all patients are alive with no evidence of recurrence. CONCLUSIONS: SPT is a rare differential diagnosis of a pancreatic mass in children. It is mandatory to establish this diagnosis since complete surgical removal of the tumor even in case of metastases or local invasion offers an excellent prognosis.

[Isolated rupture of the jejunum after trauma in a child. A complex mechanism of injury with difficult diagnosis]. / Traumatische isolierte Jejunumruptur bei einem Kind. Ein komplexer Unfallmechanismus mit schwieriger Diagnosestellung.

Isolated rupture of the lower jejunum after blunt abdominal trauma is rare. The pediatric population, especially school-aged children, sustains these isolated injuries due to blunt trauma more frequently than adults. The lack of severe clinical symptoms in the beginning and therefore a delay in diagnosis are the main problems of these traumatic injuries. We report on a 7-year-old girl who sustained isolated rupture of the lower part of the jejunum secondary to blunt trauma. The purpose of this report is to illustrate the complex mechanism of injury. Additionally, we discuss the different ways of diagnosis with a review of the literature.

Open versus laparoscopic appendectomy in children: a comparison of complications.

Although between 4% and 20% of all appendectomies in adults are performed laparoscopically, this procedure is rarely done in the pediatric age group because of the substantially more difficult technique, the expected risks and suspected higher rate of complications. In a prospective study of 500 consecutive appendectomies, we tried to assess the actual rate of complications of each operative approach. We included 362 conventional and 138 laparoscopic appendectomies, the median age of the patients was 10.8 years. The mortality was 0 in both groups. We observed 89 minor and 11 major complications. All major complications (wound infections needing re-operation under general anesthesia, intra-abdominal abscesses, ileus due to adhesions and a case of renal insufficiency because of glomerulonephritis) occurred in the conventional group (n=11, ie, 3% of 362 open appendectomies). Seventy-two minor complications were seen in the same group (20%). In the laparoscopic group, there were 17 (13%) minor complications and no severe complications. This difference was statistically significant. We conclude that in children laparoscopic appendectomy does not carry a greater risk of intra- or postoperative complications and can therefore safely be established as a standard procedure.

[Progressive familial intrahepatic cholestasis (Byler disease): current genetics and therapy]. / Die Progressive Familiäre Intrahepatische Cholestase (Morbus Byler): Aktuelles zu Genetik und Therapie.

Progressive familial intrahepatic cholestasis (PFIC) is a congenital liver disease. First symptoms can frequently be seen shortly after birth. Quality and expectation of life are substantially reduced due to severe pruritus and the complications of progressive liver cirrhosis. PFIC is diagnosed on the basis of characteristic clinical and laboratory parameters and genetic analysis after exclusion of other liver diseases leading to intrahepatic cholestasis. Medical therapy is only effective in a proportion of children with PFIC. Partial biliary diversion (PBD) is nowadays considered the therapy of choice in patients with therapy-refractive pruritus. If performed in time, damage to the liver can be delayed or arrested, thus orthotopic liver transplantation (OLT) can be postponed or even avoided in at least some patients with PFIC. Besides providing a current overview of PFIC, we report on three patients who were successfully treated surgically. One patient was subjected to a new technique of PBD (cholecysto-appendicostomy), the other two had OLT.

CT and MR imaging of generalized cystic lymphangiomatosis in pediatric patients.

OBJECTIVE: The aim of this study was to describe the spectrum of abnormalities seen in generalized cystic lymphangiomatosis as shown by CT and MR imaging and to correlate these findings to gross pathology. CONCLUSION: MR imaging and CT may substantially broaden visualization of the spectrum of abnormalities seen in generalized cystic lymphangiomatosis by revealing the complete extent of disease and, thus, may contribute to clinical management of the disease by preventing initial misdiagnosis.

Perforating appendicitis. An indication for laparoscopy?

BACKGROUND: This pilot study was performed to reassess the widespread postulate that laparoscopic surgery is contraindicated in cases of perforating appendicitis. METHODS: A total of 75 children (appendiceal perforation: n = 67; perityphlic abscesses and peritonitis: n = 8) were analyzed in a prospective nonrandomized trial. Ten of them were treated by laparoscopic appendectomy. RESULTS: In the laparoscopy group, both pain and hospitalization were less time-consuming (i.e., by 50% and 19%, respectively). Antibiotics use was down from 2.6 over 6 days to 2.2. over 5.5 days, while the duration of surgery was up by 52%. Wound healing disturbances occurred in 10% (n = 1) and postoperative fever in 50% (n = 5) of patients, compared to 14% (n = 9) and 15% (n = 10) in the group treated by open surgery. All severe complications requiring reintervention (10%; massive subcutaneous abscess, n = 3; retrocolic abscess, n = 2; adhesion-related ileus, n = 3; appendicular stump, n = 1) were associated with open surgery. CONCLUSIONS: There was not a single major complication in the laparoscopy group. These unexpected results are in contrast to previous reports and have prompted us to initiate a prospective randomized trial.

[Persistent hyperinsulinemic hypoglycemia (PHHI)--surgical management of neonatal hypoglycemia]. / Persistierende hyperinsulinämische Hypoglykämie (PHHI)--Chirurgische Sanierung einer neonatalen Hypoglykämie.

Sporadic persistent hyperinsulinemic hypoglycaemia in a newborn is a rare disease which requires early surgical treatment if conservative therapy fails. We report on a newborn female in whom PHHI was diagnosed at the second day of life. She presented with severe hypoglycemia and high levels of plasma insulin. Conservative treatment failed and a near-total pancreatectomy was performed on the 24th day of life. The postoperative outcome and the follow-up studies showed the patient to be euglycaemic. If hypoglycaemia is resistant to conservative therapy, surgical treatment is recommended. A loss of pancreatic exocrine function is not necessarily to be expected.

[Unexpected regeneration of a congenital unilateral hypoplastic- dysplastic kidney after a contralateral nephrectomy for Wilms tumor]. / Unerwartete Regeneration einer einseitigen angeborenen hypoplastisch-dysplastischen Niere nach kontralateraler Tumornephrektomie.

The congenital hypoplastic-dysplastic kidney is characterized by a significant reduction of renal mass, an abnormal parenchymal differentiation and is associated with anomalies of the whole urinary tract. Not much is known about the ability for regeneration in such a kidney. We report on a 2 year 11 months old boy with an anaplastic Wilms tumor of the left kidney, in whom after tumor-nephrectomy an unexpected functional and sonographically documented morphological regeneration of the contralateral hypoplastic-dysplastic kidney occurred. The regeneration of this kidney is especially notable, because it occurred during nephrotoxic chemotherapy and radiotherapy.

Short-bowel syndrome associated with subtotal necrosis of small intestine after rectal trauma.

We report on a 4-year-old girl who experienced rectal trauma during swimming, sitting on an uncovered draining valve in the swimming pool. This resulted in a powerful suction effect on her rectum, followed by rupture of the sigmoid colon and evisceration of the small intestine. Laparotomy showed a near complete necrosis of the small bowel because of thrombotic lesions and wall lacerations of the superior mesenteric artery (SMA). A subtotal bowel removal associated with a jejuno-ileostoma was carried out, a total length of about 35 cm of the small intestine could be left in situ. Parenteral nutrition was stopped after eight months. At the moment defecation takes place 2-3 times a day, growth and weight gain are quite normal.

[Congenital oesophageal stenosis due to tracheobronchial remnants]. / Congenitale Oesophagusstenose durch tracheobronchiale Reste.

This paper presents the authors' experience with congenital oesophageal stenosis (= CES) in three patients who had CES due to tracheobronchial remnants. Difficulties with feeding started at 6-9 months of age, which corresponded with the introduction of solids. Contrast studies showed stenosis at the junction of the mid and distal thirds of the oesophagus. Limited resection of the oesophageal stenosis and primary anastomosis was performed in all three patients with good results. CES should be suspected if all other causes of oesophageal stenosis have been excluded by upper gastrointestinal examinations, endoscopy, oesophageal pH monitoring and oesophageal manometry.

Successful conservative treatment of severe renal candidosis with fungus balls.

Partial fungal obstruction of the renal collecting system is an unusual finding among infants that poses specific management problems. We report a patient with sepsis and fungal infection of the kidneys post surgery who presented with bilateral fungus balls and was successfully managed by conservative measures. Sonography is the imaging technique of choice in the diagnosis and follow-up of such patients. The need for prompt diagnosis in high-risk patients and the role of sonography are discussed.

Necrotizing sarcoid granulomatosis in a 14-yr-old female.

A case of a 14-yr-old female with necrotizing sarcoid granulomatosis (NSG) is presented. She was referred because of chest pain and malaise, and radiography revealed multiple pulmonary nodules. Her history showed seasonal sensitization to aeroallergens and hay fever. Infectious agents or malignancies did not characterize these nodules. However, she was treated with macrolide antibiotics because of suspected infection with Chlamydia pneumoniae. Open lung biopsy showed histological findings of NSG, with epithelioid granulomatous inflammation, including giant cells, and vasculitis. No further treatment was performed, and symptoms disappeared within a few weeks. The chest radiograph showed gradual improvement. The aetiology of NSG is poorly understood, and is postulated to represent either sarcoidosis or rare forms of pulmonary vasculitis such as Wegener's granulomatosis or the Churg-Strauss syndrome. In the case presented, a coincidence of infection with Chlamydia pneumoniae suggests an involvement of infectious agents in the pattern of formation of immune complexes in the aetiology of NSG.