Extrarenal rhabdoid tumours outside the central nervous system in infancy

Background  Malignant rhabdoid tumours (RT) are increasingly recognized in young children, probably as a consequence of advances in accurate histological diagnosis rather than a true increase in frequency. Although typically presenting as renal tumours in infancy, extrarenal tumours outside the central nervous system (CNS) in children less than 12 months of age are now well recognized, but previous literature on their imaging features is very limited. Objective  To demonstrate the imaging features of extrarenal RTs outside the CNS. Materials and methods  A retrospective database review was made from 1989 to 2007 of patients diagnosed with extrarenal RT in infancy, i.e. below 12 months of age. Results  There were nine patients (six boys and three girls). The age at presentation varied from 1 to 11 months (average 6 months). Tumours were located in the thorax/mediastinum (n=3), liver (n=3), neck (n=1), shoulder (n=1) and axilla (n=1). The imaging modalities used included US (n=8), CT (n=7) and MRI (n=6). Bone scan was positive in one patient, while metastases at the time of diagnosis occurred in four patients. On MRI the tumours tended to show nonspecific hypointensity on T1-W images and heterogeneous hyperintensity on T2-W images, with heterogeneous enhancement. Conclusion  This is the largest radiological series of extrarenal RTs outside the CNS in infancy. In our series no imaging features were found specific to the diagnosis. A tendency towards large size and mediastinal/paravertebral location were noted. A hypodense solid component on CT and a heterogeneous hyperintensity on T2-W MR images suggest that this tumour should be considered in the routine differential diagnosis of soft-tissue tumours in infancy, in addition to rhabdomyosarcoma.     

CT in children with abdominal cancer: should we routinely include the pelvis?

Background: It has been suggested that the pelvis should not be habitually included on abdominal CT examinations, but the potential benefit of such a practice in childhood abdominal malignancies is unknown. Objective: To estimate the yield and potential diagnostic benefit of abnormal findings on CT of the pelvis in children with malignant primary tumours in the upper abdomen. Materials and methods: From a paediatric tertiary referral hospital we retrospectively included patients having abdominal CT for primary upper abdominal tumours (1997–2004), the scan range routinely including the pelvis. We reviewed and tabulated any pelvic abnormality, and calculated group proportions with 95% confidence intervals. Results: We identified 230 children (2 days to 17 years old, median 2.9 years). Six (2.6%; 95% CI 0.5–4.7%) had abnormalities in the pelvis that would not have affected clinical management. Four (1.7%; 95% CI 0.1–3.4%) had findings that might have influenced staging, but only one was not detected by other modalities within 1 week of the CT. Conclusions: Our data suggest that diagnostically significant findings in the pelvis are rare; consequently, the habitual inclusion of the pelvis on abdominal CT for primary malignant tumours in the abdomen is not justified.     

Pediatric pheochromocytoma in association with Von Hippel–Lindau disease: Focus on screening strategies

IntroductionVon Hippel–Lindau disease (VHL) is a syndrome of familial predisposition to the development of malignant and benign tumours, due to mutations in the VHL tumour suppressor gene. Pheochromocytoma is a tumour that develops in the adrenal gland, rare in pediatric age, and may be associated with genetic abnormalities including mutations in the VHL gene. Systematic screening of pheochromocytoma in children carrying a VHL mutation has been proposed. However, some VHL patients who have been screened may develop symptoms associated with pheochromocytoma despite screening. Here, we report on such a case.Clinical caseA 13-year-old boy, known to be a carrier of a mutation of the VHL gene, undergoing annual screening, was admitted to our hospital for clinical symptoms related to a right adrenal pheochromocytoma discovered on abdominal imaging. After hemodynamic stabilisation, the pheochromocytoma was surgically resected. Histology confirmed the diagnosis of pheochromocytoma. The postoperative care was simple. The event-free period is currently 2 years.DiscussionThe present case has led us to reflect on the French and international screening strategies for pheochromocytoma in children carrying a mutation of the VHL gene. Between 2013 and 2018, six different recommendations were proposed for pheochromocytoma screening in secondary prevention for children with a VHL mutation, with variability regarding the age of onset and complementary examinations to be carried out. Despite the existence of these recommendations, our case demonstrates that a pheochromocytoma can develop by escaping well-performed screening. The role of early abdominal imaging should be redefined to improve the efficiency of screening.ConclusionThe discovery of a pheochromocytoma in a child must be systematically investigated for an underlying genetic cause. In the particular case of children carrying a mutation of the VHL gene, annual abdominal imaging should be included in the pheochromocytoma screening protocol from the age of 5 years.     

Bilateral disease and new trends in Wilms tumour

Wilms tumour is a great therapeutic success story within paediatric oncology; its prognosis is excellent. Although mainly sporadic, occurring in otherwise well children, it occurs in a small number of genetically predisposed children. Thus regular surveillance imaging is performed in predisposed children in parts of the USA and Europe. The risks and benefits of surveillance are unclear, as the existing ad-hoc surveillance protocols are lacking in consistency of practice and equity of provision. We present guidelines for Wilms tumour surveillance based on a review of current practice and available evidence, outlined by a multidisciplinary working group in the UK. Wilms tumours are bilateral in 4–13% of affected children. Bilateral synchronous nephroblastomas are observed in 5% of affected children and are usually associated with the presence of nephrogenic rests, congenital malformations and predisposing syndromes. The major challenge in bilateral disease is to achieve a cure and at the same time to preserve sufficient functional renal tissue for normal growth and development. The association among Wilms tumour, nephrogenic rests and nephroblastomatosis makes detection and characterization of renal lesions with imaging extremely important. We discuss the relative strengths and weaknesses of the different modalities used for diagnosis and follow-up in bilateral renal disease. We also discuss newly emerging diagnostic imaging tests such as ¹⁸F-fluorodeoxyglucose positron emission tomography (FDG-PET). This technique, when fused with CT (PET-CT), allows accelerated metabolic activity to be accurately anatomically localised and so is potentially useful for staging, assessment of treatment response, and for surgical and radiotherapy planning. In addition, quantitative MRI techniques have been proved to be valuable in intracranial tumours, but no such role has been validated in abdominal disease. Diffusion-weighted imaging with calculation of ADC maps is feasible in abdominal tumours, and our own preliminary data suggest that tissue cellularity is an important determinant of ADC value, which might help in terms of early prediction of therapy response.     

Where are the opportunities for an earlier diagnosis of primary intracranial tumours in children and young adults?

BackgroundChildhood brain tumours have some of the longest time to diagnosis. A timely diagnosis may have a role in reducing anxiety in waiting for a diagnosis and subsequent morbidity and mortality. We investigated where the opportunities for an earlier diagnosis were, and for which anatomical locations this strategy will most likely to be effective.MethodsA record-linkage cohort study of patients diagnosed aged 0–24 years with a primary intracranial tumour between 1989 and 2006 in England, using records from the National Cancer Registry linked to hospital admission records from Hospital Episode Statistics (HES, 1997–2006) and primary care consultation records from Clinical Practice Research Datalink (CPRD, 1989–2006). Relevant neurological presentations were extracted from HES and CPRD. Temporal changes in presentation rates were estimated in generalised additive models.ResultsFrequency of presentation began to increase six months before diagnosis in primary care and three months before diagnosis in hospital. Supratentorial and midline tumours had the longest presentation history before diagnosis. Peri-ventricular tumours presented frequently in hospital (rate ratio = 1.29 vs supratentorial tumours; 95% CI = 1.12–1.48) or as an emergency (1.24; 1.01–1.51), and in primary care (1.12; 0.62–1.85).ConclusionsOpportunities for an earlier diagnosis are greater in supratentorial, midline or cranial nerve tumours, which have a longer presentation history than peri-ventricular, cerebellar or brainstem tumours. Common features before diagnosis include headache, convulsions, and growth or endocrine disorders. Focal neurological deficits are uncommon and emerge late in the pre-diagnosis period.     

Pediatric lung ultrasound — pros and potentials

Lung ultrasound (US) cannot be considered a new diagnostic imaging technique anymore, with some articles dating back 50 years. The question that hovers over it recently is why it is still not widely accepted, like chest radiography. So, have we wasted a lot of time without using lung US, or are we wasting our time using lung US? The main goals of this article are to underline all the advantages, potentials and reasons to use lung US in everyday clinical practice, but also to address the main concerns linked to this imaging tool. From the standpoint of an experienced pediatric radiologist from a tertiary health care children’s hospital who has been performing this examination for more than 10 years on a daily basis, this article also addresses the most common applications of lung US, such as detection of pneumonia and neonatal lung diseases.

     

Virilising adrenocortical tumours in children

Adrenocortical tumours (ACT) are a rare but important cause of virilisation in infancy and childhood. Four cases of virilising ACT are presented. Two girls (age 0.9 years and 3.9 years) and two boys (age 6.2 years and 6.4 years) had symptoms and signs of virilisation before the age of 6 years. Diagnosis of a virilising adrenal tumour was confirmed by laboratory tests, diagnostic imaging and histology. However, one female patient was misdiagnosed and treated for 3 months as atypical congenital adrenal hyperplasia. Ultrasonography of the adrenal region could not visualise the tumour in three out of four cases. The most sensitive method of diagnostic imaging was MRI. In all cases, treatment consisted of complete surgical resection of the adrenal tumour by open abdominal surgery. Immunohistochemistry was performed in all patients and in two patients there was an overexpression of p53, indicating p53 mutation and in three cases the ki67 proliferation index was greater than 5%. The classification of ACT in childhood is extremely difficult. Histology scores adapted from adrenal tumours in adults and molecular markers are under investigation, but there is still not enough clinical experience since ACT are so rare. CONCLUSION: Long-term follow-up is mandatory not only because of the uncertainty in classification of adrenocortical tumours, but also for observation of growth and pubertal development.     

Giant gastrinoma in a child: case report and review

Gastrinomas are rare neuroendocrine tumours. A 9-year-old boy who initially presented with recurrent upper abdominal pain and was managed as hyperacidity syndrome was later diagnosed to have a primary, retroperitoneal, extra pancreatic gastrinoma after an asymptomatic period of 6 years is presented. At the second presentation, the contrast-enhanced CT revealed an epigastric mass and serum gastrin was grossly elevated. A complete excision of the mass was done; histopathological evaluation showed a well-differentiated neuroendocrine tumour. At a year follow up, the child is asymptomatic and the review imaging and serum gastrin levels are normal.     

Case report series of a novel application of neostigmine to successfully relieve refractory ileus status post‐pediatric orthotopic liver transplantation

Post‐operative ileus is common after abdominal surgeries. Children undergoing liver transplant are at increased risk of ileus for various reasons including multiple abdominal procedures and use of narcotic medications. Ileus can lead to abdominal compartment syndrome and compromise the integrity of the liver graft. In some of these patients, ileus is resistant to standard therapies including stool softeners, bowel stimulants, enemas, and even methylnaltrexone. Neostigmine has been shown in pediatric case series to be efficacious in some children for refractory post‐operative ileus. We report three children (9 months, 3 years, and 12 years old) who developed refractory ileus after liver transplant, with one of them developing abdominal compartment syndrome, who were treated successfully with continuous infusions of neostigmine. Clinical responses included passage of flatus and stool and improvement in abdominal distension. All patients tolerated the infusion without serious adverse effects such as bradycardia or bronchospasm. Neostigmine was used safely in our patients and may be safe and efficacious for the treatment of refractory ileus in pediatric patients after liver transplantation. Neostigmine should be considered early in the treatment of these patients.     

Abdominal posterior rectopexy with an omental pedicle for intractable rectal prolapse: a modified technique

Introduction  Rectal prolapse is a relatively common paediatric surgical condition. It has a number of benign aetiologies. Management is usually centred on regulating bowel habits. Surgery is considered after the failure of medical treatment. Numerous surgical techniques have been described with a spectrum of results. Materials and methods  We adopted a limited abdominal approach to achieve a posterior rectopexy using an omental pedicle in intractable cases. This technique has not been performed in children previously. Results  From 2005 to 2008 we have applied this technique on five patients with recurrent rectal prolapse which had failed to respond to medical treatment, injection sclerotherapy or perianal cercalage. One patient had solitary rectal ulcer syndrome, and was initially treated with a defunctioning colostomy, had a concomitant sigmoidectomy performed at the time of rectopexy. None of the patients had cystic fibrosis. There were three females and two males, with a mean age of 9.6 years (4.7–14.0). No operative complications were encountered. The mean hospital stay was 5.4 days (3–8). None of the patients experienced recurrence at a mean of 2.1 years (0.2–2.8) follow up. The cosmetic result was regarded as satisfactory by all patients. Conclusion  This early experience with abdominal posterior rectopexy using an omental pedicle graft is encouraging. This technique does not involve the use of synthetic material and hence the risk of infection is low.     

Laparoscopic resection of benign ovarian tumours in children with gonadal preservation

Purpose  Ovarian tumours are often regarded as an indication for open oophorectomy, especially following torsion. We wish to report our results of laparoscopic ovarian cystectomy with ovarian preservation. Methods  Retrospective review of clinical records of patients who where managed with laparoscopic ovarian cystectomy with ovarian preservation. Results  Twelve records were identified over a 3-year period. The average age was 11.8 years (9–15). Presentation was of a mass in nine patients and torsion in three patients. Average size of the mass was 8.2 cm (5–18). Two patients had bilateral lesions. All patients were noted to have normal tumour markers. Successful cystectomy with ovarian preservation was accomplished in all cases using 3-port laparoscopy. The bilateral lesions were addressed at the same surgery with no increased length of stay or morbidity. In the three patients with acute torsion, an initial laparoscopic detorsion was performed with delayed laparoscopic cystectomy and ovarian preservation 7–10 days later. There was one complication of a minor umbilical port site infection. Histology was of a mature teratoma in ten cases and simple cyst in two. Six patients underwent routine ultrasonographic follow-up at 2–5 months at which time the involved ovary assumed a size and shape and blood flow comparable to the contra-lateral ovary in five patients. In one patient the affected side was smaller, 8.6 ml compared to 10 ml on the contra-lateral ovary. The remaining patients have been followed up clinically and remain asymptomatic. Conclusion  Laparoscopic cystectomy with ovarian preservation can be successfully applied to benign ovarian tumours. Acute ovarian torsion is not a contraindication to this technique where a two stage procedure still enables us to offer ovarian preservation.     

Perflubron residua: 12 years following therapy

Partial liquid ventilation therapy utilizing perfluorocarbons has been used for patients with severe respiratory distress. Perfluorocarbons such as perflubron have been demonstrated to clear from the lungs shortly after therapy. We present a 13-year-old boy with residual perflubron in his lungs, 12 years following therapy with perflubron. The imaging features are important to recognize as these patients return for additional care and imaging.     

Long-term outcomes of surgery for malignant sacrococcygeal teratoma: 20-year experience of a regional UK centre

Background  The timing of surgery for malignant sacrococcygeal teratoma is controversial. The long-term outcomes and complications of surgery for this rare tumour are presented. Methods  All cases of malignant sacrococcygeal teratoma in the 20-year period 1987–2006 were identified and the case notes retrieved. The age at diagnosis, investigations, presentation, type of surgery, early complications, recurrence rates, long-term complications and outcomes were recorded. Results  Twelve patients (three males, nine females) were identified. Mean age at presentation was 20.8 months (range: 12–39 months). All had the Carboplatin–Etoposide–Bleomycin chemotherapeutic protocol. The average time of follow-up was 10.6 years (range: 1–17 years). Ten patients had excision of their tumours following chemotherapy, whilst two patients had excision prior to chemotherapy. Two patients had recurrence of their tumours. There was one death (8%), which was due to disseminated metastasis. The other 11 children were all well at the last follow-up. Conclusion  Surgery for malignant sacrococcygeal teratoma is safe and has a low complication rate. The long-term outcomes are favourable with minimal side effects.     

The influence of positioning in urination: An electromyographic and uroflowmetric evaluation

PurposeWe conducted a cross-sectional study to evaluate whether the different positions during urination influence the electrical activity of the abdominal and perineal musculature, as well as the uroflowmetric parameters of children with lower urinary tract dysfunction (LUTD).Materials and methodsNinety-four children between the ages of 3 and 14 years with symptoms of LUTD were evaluated. All underwent uroflowmetry and electromyography tests (abdominal and perineal) in two different positions: oriented position (trunk bent slightly forward and feet flat) and atypical position (standing on toes for boys and buttocks not in contact with the lavatory seat and legs flexed in girls). We excluded nine patients due to suspicions of outside interference or elements complicating the analysis of charts.ResultsAmong patients evaluated 55 (64.7%) were girls and 30 (35.3%) were boys with an average age of 8.5 years. Children urinating in atypical position showed higher levels of perineal electrical activity than when they were in normal position (p = 0.018). However, there was no difference in the pattern of the curve if normal or abnormal when comparing the two groups (p = 0.824). When evaluated separately, the boys demonstrated no difference between positions, in relation to perineal electrical activity (p = 0.412) or abdominal electrical activity (p = 0.202).ConclusionsThe electrical activity of the pelvic floor musculature is decreased in the oriented position when compared to atypical positions in female children. Our data suggest that special attention should be given to adopting an adequate posture during urination for girls with LUTD.     

Significance of residual abdominal masses in children with abdominal Burkitt's lymphoma

Purpose: To evaluate the natural history of children with abdominal Burkitt's lymphoma who had complete clinical remission and residual abdominal mass after treatment. Material and methods: The charts and imaging findings of all children with abdominal Burkitt's lymphoma treated and followed at our medical center between 1988 and 1999 were reviewed for the presence, management, clinical course, and prognosis of residual mass. Results: Only children who achieved complete clinical remission were included. The study group consisted of 33 children (20 boys and 13 girls) aged 2.6–17.6 years (mean 7.2 years). Of these, seven (20.6 %) were found to have a residual abdominal mass. Two underwent second-look operation with no evidence of viable tumor on histology. The remaining five were followed by imaging studies for 2.2–9.1 years (mean 6.1 years); none relapsed. Conclusion: Residual mass is not uncommon in children with abdominal Burkitt's lymphoma. The presence of residual mass in a child with complete clinical remission does not alter the long-term prognosis. Therefore, in children with Burkitt's lymphoma and residual mass with no other signs of disease activity, expectant watching may be appropriate. Received: 10 December 2000 Accepted: 25 June 2001     

Tumor with watery diarrhoea,hypokalaemia in a 3-year-old girl

Watery diarrhoea, hypokalaemia and achlorhydria (WDHA) syndrome was caused by vasoactive intestinal polypeptide (VIP)-producing tumour. A 3-year-old Chinese girl with watery diarrhoea, abdominal distension and hypokalaemia due to a thoracic paraspinal VIP-secreting ganglioneuroma is reported. The girl coughed, fevering up to 39°C after a flu-like episode. She had eight to ten abundant stools daily which is not improved by dietary treatment, resulting in an important weight loss. She weighed 6.8 kg (nl P50 at 6 months of age) and is 76 cm (nl P50 at 9 months of age) in height. Blood electrolytes showed 129 mmol/L sodium, 2.42 mmol/L potassium, 94 mmol/L chloride and 18.6 mmol/L bicarbonate; urinary catecholamines were normal. Computed tomography scan evidenced a left side paravertebral mass of 4 × 6 cm in the lower thoracic region leading to the blood determination of vasoactive intestinal polypeptide which amounted 830 pmol/L(normal < 25 pmol/L). Surgical removal showed a ganglioneuroma of 160 g and was associated with disappearance of the diarrhoea and normalization of VIP level below 20 pmol/L. Review of the 63 reported cases in children with WDHA showed that many of the cases presented with non-treatable watery diarrhoea, hypokalaemia. Achlorhydria is not necessarily part of the WDHA syndrome. The male to female ratio is 1:1.5. Ganglioneuroblastoma and ganglioneuroma are the commonest tumours. Location of the tumour is variable: abdomen, chest or neck. Abdominal distension, flushing, episodic hypertension and colonic dilatation, constipation and ataxia were the other associated features. Surgical resection is the treatment of choice of VIP-producing tumours.     

Magnetic resonance imaging of the small bowel in children with idiopathic inflammatory bowel disease: evaluation of disease activity

Background  Examinations using ionizing radiation are frequently used in the evaluation of disease activity in children affected by idiopathic inflammatory bowel disease (IBD). Objective  To develop an MR imaging protocol without the need for fluoroscopic insertion of an enteral tube and to assess the disease activity in children with IBD. Materials and methods  Included in the study were 37 children (22 girls and 15 boys; age range 7–15 years, mean 11.67 years) with IBD who underwent MR imaging of the small bowel. Of these 37 children, 32 had Crohn disease and 5 had indeterminate colitis. A water solution containing herbal fibres was administered orally or through a nasogastric tube. Patients were imaged on a 1.5-T MR scanner with T1-weighted and Τ2-weighted sequences followed by a dynamic study using 3-D T1-W images after intravenous administration of gadolinium. Results  The percentage enhancement of the bowel wall was significantly increased in patients with abnormal C-reactive protein (CRP) values compared to patients with CRP values in the normal range (P<0.001). A relatively weak but significant correlation between percentage enhancement of the bowel wall and CRP values was noted during all phases of enhancement. Conclusion  This MR imaging protocol is a safe and well-tolerated method for evaluating disease activity and extraintestinal manifestations of IBD in children.     

Differentiation between high and low grade tumours in paediatric patients by using apparent diffusion coefficients

ObjectiveThis study was performed to confirm the hypothesis that pre-operative apparent diffusion coefficient (ADC) can be used to distinguish between “low grade” and “high grade” tumours in paediatric patients.Material and methodsADC values were retrospectively evaluated in thirty-six paediatric brain tumours. Twenty-one children with low grade brain tumours (12 WHO I astrocytomas, 1 giant cell tumour, 1 pilomyxoid astrocytoma, 4 WHO II astrocytomas, 2 craniopharyngiomas and 1 ganglioglioma) and 15 children with high grade brain tumours (6 medulloblastomas, 3 WHO III ependymomas, 1 PNET, 1 malignant rhabdoid tumour, 1 malignant germ cell tumour, 1 WHO III astrocytoma, 1 WHO IV astrocytoma, 1 rhabdomyosarcoma metastasis) were included in this study. Minimum and mean ADC values were compared between low grade and high grade tumours and cut-off values were evaluated.ResultsThe cut-off values to differentiate low and high grade paediatric brain tumours were 0.7 × 10⁻³ mm²/s and 1.0 × 10⁻³ mm²/s for minimum ADC and average ADC values respectively. All but one high grade infratentorial ependymoma showed significantly lower ADC values than low grade brain tumours in children.ConclusionCombining the information obtained from conventional MR imaging with the ADC values may increase the accuracy of pre-operative differentiation between low grade and high grade paediatric tumours. Cut-off values can help to discern low from high grade tumours. However, it has to be considered that there is a substantial overlap between tumour types previously described in the literature.     

Vallecular cyst as a cause of congenital stridor: report of five patients

Background  Vallecular cysts are an unusual cause of congenital stridor. Objective  To describe the imaging findings in five patients, with emphasis on the usefulness of sonographic studies. Materials and methods  Between 1990 and 2007, five patients with a cystic lesion situated in the anterior neck, at the vallecular space, were seen in our institution. Clinical records and imaging findings were retrospectively reviewed. Results  All patients presented with persistent inspiratory stridor that was present from the first week of life. Neck US was performed as part of the investigations in four and showed a vallecular cyst. The diagnosis was confirmed with flexible bronchoscopy in four infants and CT in one; all were resected. Pathology showed a multilayered epithelial border with normal thickness and differentiation; there were no signs of malignancy. Conclusion  Although vallecular cysts are very rare, they should be considered in the differential diagnosis of congenital stridor. When the commonest causes have been ruled out, neck US may be diagnostic. The diagnosis can be confirmed with flexible bronchoscopy or further imaging such as CT or MRI.