Urinary Vanillylmandelic Acid Research Articles

Monoamine metabolites in ventricular CSF of children with posterior fossa tumors: correlation with tumor histology and cognitive functioning

The biogenic amines (dopamine, epinephrine, norepinephrine, and serotonin) are involved in the regulation of multiple neuronal functions, and changes in monoamine concentrations in the CSF have been detected in several disorders. The aim of the present study was to investigate the role of biogenic amines in the ventricular CSF of children suffering from posterior fossa tumors and their possible correlation with tumor histology and cognitive functioning. Twenty-two children with posterior fossa tumors who were treated surgically at Children's Hospital "Agia Sofia" were studied. Patients ranged in age from 5.5 to 15 years. The study population included patients who suffered from hydrocephalus and were treated by ventriculoperitoneal shunt placement. During the operation for shunt placement, a CSF sample was obtained for the assessment of 3-methoxy-4-hydroxyphenylglycol (MHPG), homovanillic acid (HVA), and 5-hydroxyindoleacetic acid (5-HIAA). Simultaneously, a blood sample was also obtained for assessment of the same metabolites in the serum. The concentration of vanillylmandelic acid (VMA) was evaluated in 24-hour urine samples in 11 patients. Cerebrospinal fluid from a control group of children was also studied. Executive functions were assessed using the short form of the Wechsler Intelligence Scale for Children (WISC). Twelve patients suffered from astrocytomas, 9 from medulloblastomas, and 1 from an ependymoma. The MHPG concentration in CSF was significantly higher in patients with astrocytomas compared with patients with medulloblastomas. Twenty-four-hour urine samples of VMA were significantly higher in patients with astrocytomas compared with patients with medulloblastomas. The MHPG concentration in CSF was negatively correlated with the verbal scale of the WISC and there was a trend toward a significant negative correlation with the total WISC score. Homovanillic acid in CSF was positively correlated with the performance scale of the WISC. There was a significant correlation between HVA and MHPG levels in CSF. The CSF concentration of 5-HIAA was significantly correlated with the HVA concentration in serum. Twenty-four-hour urine VMA samples were statistically significantly correlated with HVA concentration in both CSF and serum, with MHPG in CSF, and with 5-HIAA in serum. This study showed that children with posterior fossa tumors have differences in the levels of monoamine metabolites in CSF. Further studies with a larger number of patients are obviously needed to verify these observations as well as studies to correlate the monoamine metabolite levels with the neuropsychological and behavioral findings in children with posterior fossa tumors.

An Unusual Case of a Composite Pheochromocytoma With Neuroblastoma

Composite pheochromocytoma (CP) is a rare tumor of the adrenal medulla, consisting of neuroendocrine and neural components. Despite similar neural crest origins, pheochromocytomas and neurogenic tumors are distinct entities. Symptoms may arise from hypersecretion of hormones by either component; however, not all patients present with classic symptoms. Moreover, various medical conditions and substances can confound screening tests and complicate the diagnosis. The patient, a 46-year-old male, was seen in the endocrine clinic regarding a 2-year history of paroxysmal headaches, palpitations and diaphoresis. His medical history was significant for hypothyroidism and substance misuse (nicotine, marijuana and cocaine). Family history was negative for pheochromocytoma, hyperparathyroidism or thyroid malignancies. He was found to be hypertensive in clinic, and two cafe-au-lait spots and bilateral axillary freckles were noted on dermatological examination. Pheochromocytoma was suspected and investigations revealed 24-h urinary catecholamines, metanephrines and vanillylmandelic acid levels that were substantially elevated. He was asked to repeat the urine collection while abstaining from cocaine, given the potential confounding with cocaine-induced elevations of catecholamines and their metabolites; however, the patient did not comply with this. His plasma free metanephrines and chromogranin A were later found to be elevated. Abdominal computed tomography revealed a 5.8 × 5 cm mass in the left adrenal gland, with an attenuation of 40 Hounsfield units. He underwent an uncomplicated laparoscopic left adrenalectomy, after which his blood pressure normalized. Histological features of the tumor revealed findings consistent with a typical pheochromocytoma with neuroblastomatous infiltrates comprising < 5% of the tumor. The mitosis karyorrhexis index was low and there was no ganglioneuromatous infiltrate evident. Medical oncology was consulted in view of the histopathological findings, and no adjuvant therapy was recommended. Unfortunately, he did not fully comply with repeat imaging or biochemical evaluation. Six months postoperatively, the patient remains completely asymptomatic and normotensive. Cocaine-induced catecholamine effects can clinically mimic pheochromocytoma, thereby complicating the diagnosis. In addition, the biologic behavior of CP with neuroblastoma is uncertain and warrants oncologic assessment and surveillance. J Endocrinol Metab. 2014;4(1-2):39-46 doi: http://dx.doi.org/10.14740/jem211w

24-h Urinary Vanillylmandelic Acid (VMA) is not a Sensitive Pa-rameter to Identify Acute or Chronic Stress Generated by High Intensity Exercise in Animal Model

Vanillylmandelic acid (VMA) is the main urinary end-stage metabolite of epinephrine and norepinephrine. Its con- centration can be elevated in some cases of cancer, but also after other stress stimuli. The aim of the study was to investigate the effect of high intensity physical training (HIPT) and acute exercise on urinary VMA concentration and metabolic aspects related to glucose metabolism in animal model. Wistar rats underwent four sets of 10 jumps/day supporting a load equivalent to 50% of body weight, in a water tank for six weeks. A control group was kept in sedentary condition during the same period of time. After six weeks, sedentary and trained animals underwent an exercise session with the same characteristics of HIPT. Acute high intensity effort did not change 24-hour urinary VMA concentration in both trained and untrained rats. Both groups increased glycaemia and lactacidaemia while serum insulin reduced. Acute exercise elevated free fatty acid concentration and decreased gastrocnemius muscle glycogen content in sedentary animals. It was concluded that high intensity physical training and acute exercise interfere on glucose metabolism profile without change 24-h VMA.

Cardiomyopathy due to pheochromocytoma

Α 33-year-old woman was admitted to our clinic with electrocardiographic (ECG) manifestations of anterior ST-elevation myocardial infarction, dizziness, weakness, and feeling of oncoming collapse. She underwent coronary angiography that showed normal coronary arteries and an echocardiography study that showed reduced left ventricular contractility with diffuse hypokinesis and an estimated ejection fraction of (EF) 35-40 %. The biochemical testing showed enzymatic activity typical of myocardial necrosis. The patient had hypertensive peaks on a 24-h recording of blood pressure, while immunological and virological test results were negative. Magnetic resonance imaging showed partial epicardial enhancement. A tumor in the right adrenal medulla was detected with computed tomography, and biochemical testing showed increased levels of urinary vanillylmandelic acid as well as serum metanephrines. The diagnosis of pheochromocytoma was made and confirmed by histological findings after surgical resection of the tumor. The left ventricular systolic dysfunction gradually reversed, the EF returned to normal, and the ECG findings were normalized, indicating cardiomyopathy due to pheochromocytoma.

Interchangeability between 24-hour collection and single spot urines for vanillylmandelic and homovanillic acid levels in the diagnosis of neuroblastoma

The determination of the two urinary catecholamine metabolites homovanillic acid (HVA) and vanillylmandelic acid (VMA) is of crucial importance for the diagnosis and follow-up of neuroblastoma (NB). The standard practice for their measurement requires the use of 24-hour collections that are time consuming and difficult to obtain. In this article, we directly demonstrate that 24-hour collections and single spot urines are interchangeable for the determination of HVA and VMA expressed as ratio on creatinine concentration. This study can be useful for a faster management of NB at onset.

Metastatic paraganglioma presenting as a primary shoulder mass

Paragangliomas uncommonly metastasize, including to the bones, wherein these tumors are designated as malignant paragangliomas. A 56-year-old man presented with pain and immobility in his right arm for 1year. He had a history of controlled hypertension and diabetes mellitus for 2years. He had also been taking anti-anxiety medications for 25years. His shoulder imaging revealed an expansile, lytic, destructive lesion in the glenoid cavity, measuring 4.6 × 3.9 × 3.2cm, involving the adjacent bones and soft tissues. A whole-body PET-CT scan revealed a hypermetabolic destructive mass in the right glenoid cavity and another lesion in his abdomen in the aortocaval region. Initial biopsy and subsequent scapular resection microscopically revealed a multinodular tumor with polygonal cells arranged in a nesting and diffuse pattern, in a vascularized and sclerotic stroma. Tumor cells displayed moderate to abundant, eosinophilic to clear cytoplasm, fine nuclear chromatin, focal intranuclear inclusions, and scattered mitotic figures. Immunohistochemically, tumor cells were positive for vimentin, synaptophysin, chromogranin, and CD56 and negative for AE1/AE3, CK, EMA, CD10, SMA, Melan A, HMB-45, desmin, and S100-P. Biopsy of the abdominal mass revealed foci of tumor cells resembling the scapular tumor. Diagnosis of a malignant paraganglioma was finally offered. The patient's post-operative blood pressure is controlled. Currently, his urinary vanillylmandelic acid and metanephrine levels are normal. He is asymptomatic 11months post-surgery and is on follow-up. This unusual case is presented to increase a diagnostic index of suspicion for a malignant paraganglioma, including at unconventional musculoskeletal sites. The diagnostic challenge and therapeutic implications are discussed herewith.

Use of NP-59 SPECT/CT imaging in atypical primary aldosteronism

A 73-year-old man with a 10-year history of hypertension exhibited poorly controlled systolic blood pressure (BP), which remained at 190 mm Hg, despite treatment with six different classes of antihypertensives in the past 2 years. Laboratory analysis revealed potassium levels of 3.9 mmol/l, plasma aldosterone concentration (PAC) of 8.42 ng/dl (3.7–24.0 ng/dl), plasma renin activity (PRA) of 0.21 ng/ml/h (0.15–2.33 ng/ml/h), aldosterone-to-renin ratio (ARR) of 40.1 (>30), 24-h urinary vanillylmandelic acid levels of 1.67 mg (<7.5 mg/24 h) and 8:00 AM …

Phaeochromocytoma in Nepal – A Single Centre Experience

Phaeochromocytomas are rare tumors of chromaffin cells of neural crest that classically present with symptoms of catecholamine excess such as palpitations, headache and sweating. They are diagnosed by measuring plasma or urinary levels of catecholamines or their metabolites. Anatomic localization is done by computed tomographic scan or magnetic resonance imaging, or meta-iodobenzyl guanidine scan in certain cases. Adequate preoperative catecholamine blockade prevents perioperative hemodynamic instability. To study the clinical spectrum and management of phaeochromocytomas in a tertiary care centre, Tribhuvan University Teaching Hospital, in Nepal. Retrospective review of case records of histologically proven cases of phaeochromocytomas from 2008 -2011 was done, and data collected on clinical spectrum, diagnostic modalities, perioperative management and follow-up. Twelve cases of phaeochromocytomas were operated. The mean age was 36.41+/-14.07 years. There were 2 bilateral phaeochromocytomas and 1 extraadrenal paraganglioma. Apart from the common symptoms of catecholamine excess, patients had atypical presentations like psychiatric manifestations and blurred vision. A combination of urinary Vanillyl Mandelic Acid and computed tomographic scan was used for diagnosis, and open surgery was done in all cases. Pre-operative blood pressure control was achieved by prazocin or calcium channel blockers. Ten patients had intraoperative surge in blood pressure. There were no major morbidity or mortality. Three patients had high blood pressure postoperatively, but were effectively managed with antihypertensives. Phaeochromocytomas can have variable presentation. Good preoperative preparation and perioperative management can result in an excellent outcome.

Opsoclonus Associated With Salmonellosis in a 6-Week-Old Infant

A 6-week-old male infant presented with 2 days of fever, emesis, and diarrhea, associated with episodic and chaotic rapid eye movements, determined to be opsoclonus. An electroencephalogram (EEG) obtained during the events was normal. He was treated empirically for meningitis, and an initial workup for neuroblastoma including urine homovanillic acid and vanillylmandelic acid levels, abdominal ultrasonography, and computed tomography (CT) of the chest, abdomen, and pelvis was negative. Stool and blood cultures were positive for Salmonella, and antibiotic regimen was adjusted appropriately. Over the next few days, his fever, emesis, and diarrhea subsided, and the opsoclonus resolved by hospital day 6. He was back to baseline by hospital day 9. Although there have been cases of parainfectious opsoclonus associated with Lyme disease, enterovirus, Streptococcus, and West Nile virus, this represents the first reported pediatric case of opsoclonus associated with salmonellosis. Only 2 such cases in adults have been reported in the literature.

MIBG molecular imaging for evaluating response to chemotherapy in patients with malignant pheochromocytoma: preliminary results

Malignant pheochromocytomas respond to chemotherapy with a reduction in tumor size and catecholamine secretion. We investigated the usefulness of molecular imaging with meta-iodobenzylguanidine (MIBG) for evaluating the effects of chemotherapy in patients with malignant pheochromocytoma. Six patients were studied before and after 6 ± 4 months of combination chemotherapy with cyclophosphamide, vincristine, and dacarbazine. Urinary catecholamines, metanephrines, and vanillylmandelic acid (VMA) levels were measured before and after chemotherapy. [131I]MIBG uptake was calculated for each tumor lesion on images before and after chemotherapy. An intensity ratio (IR) of abnormal to normal tissue count density was used to evaluate the change in lesion activity with therapy. Urinary catecholamines, metanephrines, and VMA significantly decreased with chemotherapy. MIBG uptake decreased in most lesions and the reduction in overall IR correlated with the reduction in urinary VMA. However, the change in individual lesions was variable and MIBG IR did not change or increased in a number of lesions. In conclusion, MIBG imaging is useful in the evaluation of patients with malignant pheochromocytoma who are receiving chemotherapy. It can provide not only a measure of overall effectiveness of treatment but also allows a lesion-by-lesion evaluation of the heterogeneity of response to chemotherapy.

Malignant pheochromocytoma: Hepatectomy for liver metastases

Malignant pheochromocytoma accounts for approximately 10% of pheochromocytoma cases. The main site of distant metastasis is the liver. Hypertensive crisis due to catecholamine oversecretion is potentially fatal. We present a case of malignant pheochromocytoma with multiple liver metastases. A 60-year-old female with repeated hypertensive episodes was diagnosed with malignant pheochromocytoma. She underwent a left adrenalectomy and partial hepatectomy with resection of segment 6. Catecholamine levels remained high after surgery and she received repeated cycles of chemotherapy. Four months after surgery, multiple liver metastases were detected. In spite of ongoing chemotherapy, catecholamine levels eventually became uncontrollable. Serum and urine noradrenaline and vanillylmandelic acid levels increased, but adrenaline and dopamine levels stayed within the normal range. Preoperative liver imaging revealed multiple metastases in all segments except segment 4. Percutaneous transhepatic portal vein embolization (PTPE) of the right and lateral branches of the portal vein was performed. The functional liver volume of segment 4 increased after PTPE. Right hepatectomy, lateral segmentectomy and partial resection of segment 1 were performed 10 mo after the initial surgery. Intraoperative ultrasonography detected two small tumors in segment 4, which were treated with intraoperative microwave coagulation therapy. Noradrenaline levels normalized immediately after the second hepatectomy. As there was increased telomerase activity in the resected specimen, she received adjuvant chemotherapy. She remained in good health for 2 years. However, further metastases eventually occurred and she subsequently died due to a brain hemorrhage. Hepatectomy may be a therapeutic option for reduction of tumor mass in pheochromocytoma with liver metastases.

Catecholamines influence myocardial 123I MIBG uptake in neuroblastoma patients

Cardiac 123I metaiodobenzylguanidine (MIBG) imaging can be influenced by several factors. We evaluated the relationship between catecholamine measurements and cardiac 123I MIBG uptake in neuroblastoma patients. 30 neuroblastoma patients were retrospectively assessed on cardiac 123I MIBG uptake and urinary catecholamine dopamine and metabolites, homovanillic acid (HVA) and vanillylmandelic acid (VMA). Cardiac 123I MIBG uptake was quantified by heart-to-mediastinum (H/M) ratios, which were calculated into standard deviation scores (SDS) using age-specific reference values. In 17 (57%) and 12 patients (40%) H/M ratio measurements were below -1.0 and -2.0 SDS at diagnosis. A significant inverse correlation between the average of urine metabolites HVA and VMA, and H/M ratio SDS was observed (r -.39, p = 0.04). Furthermore, there was a significant correlation between the urinary catecholamine metabolite HVA and H/M ratio SDS (r -.40, p=0.04). Routine calculation of H/M ratios in 123I MIBG scintigrams of neuroblastoma patients is not helpful because it will not identify cardiac ventricular dysfunction in this patient category. A low H/M ratio on 123I MIBG scintigraphy is explained by increased cathecholamine levels secreted by neuroblastoma tumours.

English

A 27 year old female patient with bilateral pheochromocytoma presented with hypertension. Confirmation of diagnosis was done by CT scan and raised 24 hour urinary vanillylmandelic acid levels. Preoperative BP was controlled with prazosin, labetolol, indapamide and clonidine. The anaesthetic technique used was general anaesthesia with epidural analgesia.

Prognostic value of ferritin, neuron-specific enolase, lactate dehydrogenase, and urinary and plasmatic catecholamine metabolites in children with neuroblastoma

Different plasma and urinary parameters have been tested as valuable prognostic markers for children with neuroblastoma (NB), but conclusive results from multivariate analyses are still lacking. Samples collected at diagnosis from 505 patients diagnosed in Italy between June 1994 and November 2010 were analyzed at the Italian reference laboratory according to standard methodologies. Patient clinical data were retrieved from the Italian NB Registry. For statistical analysis, patients were grouped according to stage, age, MYCN status, and outcome. Cumulative survival was calculated by the Kaplan–Meier procedure using the first quartile of the marker distribution as a cut-off value to stratify the patients. Multivariate analysis was performed by the Cox regression model by considering only the significant variables. When the entire cohort of patients was considered, none of the different parameters had an independent prognostic value. However, in patients with localized disease without MYCN amplification the significant positive associations between urinary and plasmatic vanillylmandelic acid (VMA)/homovanillic acid (HVA) ratio and a better prognosis remained significant (P < 0.05 and P < 0.01, respectively), as well as, the positive association between high lactate dehydrogenase (LDH) values and a worse prognosis (P < 0.001). Moreover, in stage 4 patients without MYCN amplification, neuron-specific enolase levels above 200 ng/mL and LDH levels above 2500 IU/mL maintained their significant association with a worse outcome (P = 0.01 and P = 0.0001, respectively). In conclusion, LDH had an independent prognostic value in patients of all stages without MYCN amplification. Moreover, the urinary and plasmatic VMA/HVA ratio was an independent predictor of prognosis in patients with localized disease without MYCN amplification. Since LDH and catecholamine metabolites are measured in all patients at diagnosis, these findings may be helpful for an easy, cost-effective, patient risk stratification.

Seizures as a Presentation of a Pelvic Neuroblastoma in a 5-Month-Old Infant

Epilepsy is a very uncommon first manifestation of a neuroblastoma. A 5-month-old healthy infant presented with acute onset seizures and developmental regression. Extensive investigation was remarkable for urinary vanillylmandelic acid and homovanillic acid peaks. Abdominopelvic magnetic resonance imaging (MRI) disclosed a presacral unresectable pelvic neuroblastoma. Chemotherapy and monthly dexamethasone pulses were administrated. Seizures stopped 3 days after the first pulse of dexamethasone. At 3-year follow-up, the patient is asymptomatic and has normal neurologic and developmental examinations. This case illustrates an impressive clinical and electroencephalographic (EEG) improvement on corticosteroid therapy, raising several hypotheses, including the possibility of a nonclassic paraneoplastic neurologic syndrome.

Simultaneous detection of diagnostic biomarkers of alkaptonuria, ornithine carbamoyltransferase deficiency, and neuroblastoma disease by high-performance liquid chromatography/tandem mass spectrometry

BackgroundUrinary homovanillic acid (HVA)/vanillylmandelic acid (VMA), orotic acid (OA), and homogentisic acid (HGA) are diagnostic biomarkers of neuroblastoma, ornithine carbamoyl transferase deficiency (OCTD), and alkaptonuria (AKU), respectively. In this study, a high-performance liquid chromatography–tandem mass spectrometry (LC–MS/MS) method was developed for simultaneous quantification of HVA, VMA, OA, and HGA in urine. MethodsAfter sample preparation, which involved only the dilution procedure, samples were quantified by LC–MS/MS. Full-scan MS/MS mode enabled the urinary markers to be quantified with a high degree of specificity and sensitivity. Rather than using a separate enzymatic method to normalize the concentration of creatinine in urine, we quantified the level of creatinine in urine in one LC–MS run. ResultsThe limits of detection were 10μg/l for HGA, 25μg/l for HVA/VMA, and 50μg/l for OA with a single-to-noise ratio of 3; the limits of quantification were 50μg/l for HVA and HGA, 100μg/l for VMA, and 250μg/l for OA. The linear dynamic range for quantification of the analytes covered 2 to 3 orders of magnitude, depending on the analyte. The relative standard deviation of the developed LC–MS/MS method was less than 4% for the intra-day validation and 10% for the inter-day validation. ConclusionsThe results show that our LC–MS/MS technique is a highly sensitive and rapid method for screening for biomarkers that are diagnostic of three metabolic diseases.

A Prospective Study of Expectant Observation as Primary Therapy for Neuroblastoma in Young Infants

To demonstrate that expectant observation of young infants with small adrenal masses would result in excellent event-free and overall survival. Neuroblastoma is the most common malignant tumor in infants, and in young infants, 90% of neuroblastomas are located in the adrenal gland. Although surgical resection is standard therapy, multiple observations suggest that expectant observation could be a safe alternative for infants younger than 6 months who have small adrenal masses. A prospective study of infants younger than 6 months with small adrenal masses and no evidence of spreading beyond the primary tumor was performed at participating Children's Oncology Group institutions. Parents could choose observation or immediate surgical resection. Serial abdominal sonograms and urinary vanillylmandelic acid and homovanillic acid measurements were performed during a 90-week interval. Infants experiencing a 50% increase in the volume of the mass, urine catecholamine values, or an increase in the homovanillic acid to vanillylmandelic acid ratio greater than 2, were referred for surgical resection. Eighty-seven eligible patients were enrolled: 83 elected observation and 4 chose immediate surgery. Sixteen observational patients ultimately had surgery; 8 had International Neuroblastoma Staging System stage 1 neuroblastoma, 2 had higher staged neuroblastoma (2B and 4S), 2 had low-grade adrenocortical neoplasm, 2 had adrenal hemorrhage, and 2 had extralobar pulmonary sequestration. The 2 patients with adrenocortical tumors were resected because of a more than 50% increase in tumor volume. The 3-year event-free survival for a neuroblastoma event was 97.7 ± 2.2% within the entire cohort of patients (n = 87). The 3-year overall survival was 100%, with a median follow-up of 3.2 years. Eighty-one percent of patients on the observation arm were spared resection. Expectant observation of infants younger than 6 months with small adrenal masses led to excellent event-free survival and overall survival while avoiding surgical intervention in a large majority of the patients.

Single-Port Laparoscopic Adrenalectomy for Ganglioneuroma: A Case Report

Introduction: Single-port laparoscopy has gained popularity in both the adult and the pediatric populations. Experience thus far is limited in single-port laparoscopy for adrenalectomy. We present a 4-minute video of a single-port laparoscopic adrenalectomy performed for benign disease in a girl. Methods: The patient was a 16-year-old girl (49 kg) who was found to have an incidental 3.2-cm calcified mass in the right adrenal gland. The patient was normotensive and clinically asymptomatic. Urine metanephrines, Vanillylmandelic acid (VMA), Homovanillic acid (HVA), norepinephrine, epinephrine, and dopamine levels were normal. At the time of surgery, the patient was placed in a lateral decubitus position with the right flank elevated. A 2-cm transverse, muscle-splitting incision was made in the flank at the mid-axillary line, and the TriPortTM (Advanced Surgical Concepts, Wicklow, Ireland) was placed into the peritoneum. A 5-mm, 30-degree endoscope and two 5-mm straight-working instruments were used for dissection. A 5-mm self-retaining retractor was used to retract the liver. The medial aspect of the gland was dissected from the inferior vena cava to expose the main adrenal pedicle. The main adrenal pedicle was ligated with 5-mm titanium clips and divided. Dissection continued superiorly, where the superior adrenal vein was clipped and divided. The inferior aspect of the adrenal gland was freed from the superior aspect of the kidney, and the inferior adrenal pedicle was clipped and divided. The adrenal gland was removed intact. Results: The operative time was 124 minutes with minimal blood loss. The patient began a liquid diet the night of surgery. She was discharged to home on the third postoperative day. The pathology revealed mature ganglioneuroma. At her 6-month follow-up visit, the results of renal ultrasonography and urinary catecholamines remained normal. Conclusion: Since the initial description in the adult literature in 1992,1 laparoscopic adrenalectomy has become the accepted approach for children with benign disease.2 The identification of incidental adrenal lesions is increasing in the pediatric population, and resection is recommended because malignancy may be found in up to 30%.3 The flank approach allowed for direct access to the retroperitoneum. As experience increases, the single-port laparoscopic approach through the umbilicus can provide a virtually scarless operation. This group of patients may be excellent candidates for a single-port laparoscopic approach to adrenalectomy. No competing financial interests exist. Runtime of video: 4 mins Presented at the International Pediatric Endosurgery Group's 20th Annual Congress of Endosurgery in Children, May 3–7, 2011, Prague, Czech Republic.

Urinary free (unconjugated) metadrenalines in different hereditary forms of catecholamine-secreting phaeochromocytoma/paraganglioma

Catecholamine-producing neuroendocrine tumours are found in chromaffin cells of the adrenal medulla (phaeochromocytoma) or extra-adrenal paraganglia (paraganglioma), known collectively as PPGLs. In approximately a quarter or more of cases of PPGL, these rare tumours arise as a result of germline mutations of several tumour susceptibility genes. At the Crosshouse laboratory, urine tests include free metadrenalines (fMAs) (also known as free metanephrines) which demonstrate superior sensitivity over that obtained by urinary vanillyl mandelic acid, catecholamines or plasma catecholamines in the diagnosis of PPGL. This retrospective audit was to determine if urinary fMAs offered discrimination among the hereditary forms of PPGL. Retrospective biochemical and genetic data were gathered from 1997 to 2011. The identified urine specimens were those obtained at the time of first diagnosis or recurrence of PPGL. Results of catecholamines and metabolites were standardized as multiples of their respective relevant upper reference limits (URLs). Results were available for 29 affected patients (15 females and 14 males), median age 26 (range 9-63) years, comprising three mutation groups: succinate dehydrogenase subunit B or D ([SDHB/D] 16 patients), multiple endocrine neoplasia type 2 ([MEN 2] 6 patients) and von Hippel-Lindau disease ([VHL] 7 patients). The parent catecholamines exhibited increased values for noradrenaline (NA) and/or adrenaline (AD) for 25/29 (86.2%) patients. Either or both free normetadrenaline (fNMA) and fMA were elevated in 29/29 (100%) patients. The ratio of the multiples of URL for fMA/fNMA displayed a clearer separation of MEN 2 patients from those with SDHB/D or VHL than did the equivalent AD/NA ratio.

Prenatal intrarenal neuroblastoma mimicking a mesoblastic nephroma: a case report

Mesoblastic nephroma is by far the most frequent intrarenal fetal tumor. To the best of our knowledge, we report the first case of a newborn with an intrarenal neuroblastoma that was discovered prenatally. An intrarenal echogenic and homogenous mass was observed on routine prenatal ultasonography, corroborated by magnetic resonance imaging, in a 30-week gestation fetus. A male weighing 3280 g was born with elevated blood pressure and cardiac failure. Postnatal ultrasound confirmed a left intrarenal tumor with microcalcifications and perirenal adenopathy. An open total left nephrectomy by laparotomy was performed. The pathologic study reported that the mass was an intrarenal neuroblastoma with local and regional invasion. Immediate postoperative urine analysis revealed a high level of vanillylmandelic acid, and blood samples showed high levels of normetanephrine. The purpose of this report is to demonstrate that prenatal intrarenal neuroblastoma can clinically and radiologically mimick a mesoblastic nephroma. High blood pressure, calcifications, and lymphadenopathy on ultrasound should raise the index of suspicion for a possible malignant process. Preoperative measurement of urinary vanillylmandelic acid (VMA) and metanephrines should be performed if the diagnosis is in doubt.