Presence of ectopic adrenocortical tissues in inguinoscrotal region suggests an association with undescended testis

Ectopic adrenocortical tissues (EAT) are rare pathologies in children. They are frequently encountered in the inguinal region incidentally during surgical procedures but they are also classically known to be located from diaphragm to pelvis. EAT were investigated during inguinal procedures including inguinal hernia, hydrocele, hydrocele of cord and undescended testis (UDT) in 1,069 patients, 159 girls, 910 boys, from April 1997 until April 2006. All these nodules were confirmed to be adrenocortical tissues after histopathological examinations. Statistical analysis was done with Fisher's exact test. EAT were noted on the plexus pampiniformis external to processus vaginalis of 22 male patients (1.73%) during inguinal explorations. This figure was 1.63% for inguinal explorations of inguinal hernia, hydrocele and hydrocele of cord and 5.1% for UDT. This difference was statistically significant (P<0.0001). There were no EAT detected during inguinal exploration of female patients. EAT are uncommon pathologies seen during inguinoscrotal explorations. Incidence of EAT is significantly increased with UDT. This increase may be explained with the embryological events that take place during adrenal and gonadal development. The relatively low observation of EAT in girls may be due to the localization of gonads and association of EAT with gonadal position. Adrenal rests in inguinal region may suggest an association with descent of gonads.     

Congenital adrenocortical adenoma: case report and review of literature

Congenital ardrenocortical neoplasms are exceedingly rare. Our review of the medical literature revealed 23 reported cases of adrenocortical neoplasm including this one. Eighteen of these cases were adrenocortical carcinoma and four were grouped as adrenocortical tumor. We have not found any reported case with a histological diagnosis of a congenital adrenocortical adenoma. We present this case of a congenital adrenocortical neoplasm with histological findings consistent with an adrenocortical adenoma in a premature infant aged 27 weeks and 4 days who had a prenatal sonogram showing a cystic right abdominal mass and a physical examination demonstrating a palpable mass.     

Dyssegmental dysplasia: a case report of a Rolland-Desbuquois type

Two different forms of dyssegmental dysplasia, mild and severe, can be distinguished on clinical, radiographic and chondro-osseous morphologic grounds. The milder Rolland-Desbuquois type is frequently characterised by survival beyond the newborn period. The lethal Silverman-Handmaker type has distinctive and more severe findings. In this paper, a rare case of the Rolland-Desbuquois type is presented. The case is unusual because although it was the milder form, the child died on the 10th day of life. Received: 15 January 1997 Accepted: 21 March 1997     

KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

Pediatric adrenal tumors, other than neuroblastoma, are rare and can be associated with a genetic predisposition. In this report we describe two patients with an isolated and apparently sporadic adrenocortical tumor; one girl with a carcinoma, the other girl with an adenoma. In both patients genetic screening revealed hypomethylation of the KCNQ1OT1 gene, well-known for its association with the Beckwith-Wiedemann syndrome. This represents a likely novel genetic predisposition in patients with adrenocortical tumors without clear phenotypic features of the Beckwith-Wiedemann syndrome.     

Primary ovarian leiomyosarcoma in an adolescent following radiation for medulloblastoma

Primary ovarian leiomyosarcomas are rare neoplasms of the ovary, particularly in the pediatric population. Their occurrence following radiation therapy for previous malignancy has important implications. We present a case of primary ovarian leiomyosarcoma in an adolescent following therapy for medulloblastoma. Received: 6 August 1997 Accepted: 22 December 1997     

Magnetic resonance imaging of a left circumflex aortic arch and aberrant right subclavian artery: the other vascular ring

We present a case of a rare congenital cardiac anomaly. Magnetic resonance imaging accurately demonstrated a left circumflex aortic arch. This finding was not apparent on a prior conventional angiogram or echocardiography. Magnetic resonance imaging documentation of this anomaly is uncommon. Review of the embryonic development, clinical presentation of complete and incomplete vascular rings, and additional associated cardiac anomalies are discussed. This is one of only a few reported cases of a left circumflex aortic arch. Received: 24 December 1996 Accepted: 15 October 1997     

Acute pulmonary oedema due to transient myocardial dysfunction: an uncommon cause of respiratory distress in the term neonate

Acute postnatal pulmonary oedema due to transient myocardial dysfunction is an uncommon cause of respiratory distress in neonates. Among 11,732 liveborns we observed 3 term neonates with this condition requiring mechanical ventilation. After a delivery mildly to moderately suggestive of subpartum hypoxia, good adaptation and a short symptom free interval all three infants presented with tachydyspnoea, cyanosis, haemorrhagic pulmonary secretions at intubation and pleural effusions, pulmonary venous congestion and patchy alveolar opacities in the first chest radiograph. No evidence of hypoxic-ischaemic encephalopathy was present. The initial need for high ventilatory support and high FiO₂ was followed by rapid recovery after only a couple of hours. In two cases an underlying transient myocardial dysfunction could be demonstrated by echocardiography. Conclusion Pulmonary oedema due to transient myocardial dysfunction can be a rare cause in the differential diagnosis of respiratory distress of the newborn. Myocardial impairment after probable hypoxia can be present without concomitant encephalopathy. Received: 9 January 1997 and in revised form: 18 May 1997 / Accepted: 21 May 1997     

Central nervous system relapse of treated stage IV neuroblastoma

Neuroblastoma is the most common extracranial solid tumor in pediatrics. The long-term survival of patients with advanced-stage neurobastoma has remarkably improved secondary to aggressive treatment protocols including autologous bone marrow transplant (BMT). As a result, a different natural history of this disease is being reported with unusual, late manifestations. The central nervous system (CNS), once a rare site of disease, is being involved with increasing frequency. Appropriate neuroimaging in these patients is important. Two cases of patients with treated stage IV neuroblastoma who developed isolated CNS metastases are presented. The proposed pathogenesis and neuroradiologic manifestations of this complication are reviewed. Received: 15 September 1997 Accepted: 15 June 1998     

Bronchoesophageal fistula in an 11-month-old boy

We report a case of a rare type of bronchoesophageal fistula that communicated with the patient's normal bronchial tree, but had systemic arterial supply. Although included within the spectrum of bronchopulmonary foregut malformations, only three other similar cases have been reported in the literature. At the time of presentation, the 11-month-old male patient was afebrile with coarse breath sounds at the left lung base. A barium swallow demonstrated the connection between the distal esophagus and a left lower lobe bronchus. CT also helped to delineate the course of the fistula. Received: 24 March 1997 Accepted: 22 May 1997     

Congenital ganglioglioma: report of a case with an unusual imaging appearance

A newborn presented with a cerebral ganglioglioma. This is a rare diagnosis in a neonate. The imaging appearance (hyperdense on CT, hyperintense on T1-weighted and hypointense on T2-weighted MRI) is very unusual for this type of tumor. Received: 10 December 1996 Accepted: 24 March 1997     

Idiopathic non-obstructive hypertrophic cardiomyopathy, vitamin B12 deficiency and gastric adenocarcinoma: an unreported association in a teenager

A 14-year-old boy presented with anorexia and weakness whereon the diagnosis of dimorphic anaemia was made. An excellent response to iron and vitamin B₁₂ was observed. In addition, the patient had non-obstructive hypertrophic cardiomyopathy. At endoscopy 2.5 years later, an adenocarcinoma was diagnosed and the patient underwent a high subtotal gastrectomy. To the best of our knowledge, this rare association has never been reported in children. Conclusion We report a youngster with pernicious anaemia, associated with non-obstructive hypertrophic cardiomyopathy in whom gastric adenocarcinoma was found. Patients with pernicious anaemia are at greater risk of developing gastric carcinoma than the general population, therefore we recommend routine periodic gastroscopic surveillance in the paediatric population with pernicious anaemia. Received: 3 June 1997 / Accepted in revised form: 19 January 1998     

Persistent fever and weight loss due to an interleukin-6-producing adrenocortical oncocytoma in a girl—review of the literature

Adrenocortical oncocytomas are rarely reported, occur almost exclusively in adults, and are mostly nonfunctional. Here, we report an interleukin-6 (IL-6)-producing adrenocortical oncocytoma in an 11-year-old girl presenting with fever, body weight loss, and increased levels of inflammatory markers and serum IL-6. Imaging studies revealed a 4-cm mass in the left adrenal gland. After complete resection, laboratory findings returned to normal. Histology was consistent with adrenocortical oncocytoma, and the tumor cells stained positive for IL-6. Conclusion: IL-6-producing adrenocortical oncocytoma should be included in the differential diagnosis and imaging studies should be performed in patients presenting with persistent fever of unknown origin and high levels of inflammatory markers.     

NONFUNCTIONING ADRENOCORTICAL CARCINOMA IN A CHILD

Pediatric nonfunctioning adrenocortical carcinoma is a very rare tumor. A 4-year-old girl was admitted complaining of abdominal pain. Physical examination revealed an abdominal mass. There were no clinical or laboratory signs of hormonal abnormality. Abdominal ultrasonography revealed a polylobular mass. Intravenous pyelography showed marked compression of the kidney by a tumor. The tumor was excised together with the right kidney. The histopathological diagnosis was adrenocortical carcinoma. Although there is a greater incidence of germ line p53 mutations with adrenocortical carcinoma, the tumor suppressor gene p53 was not mutated in our case. The girl died 2 months after surgery from complications of chemotherapy.     

Inflammatory pseudotumor of the liver in Kostmann's disease

A case in which inflammatory pseudotumor of the liver (IPTL) seemed to complicate severe congenital neutropenia (Kostmann's disease) is reported. IPTL is a rare entity, especially in childhood. The exact etiology of this lesion is unknown, but it is generally regarded as a benign, reactive inflammatory condition. Based on 15 reported pediatric cases in the literature, the causes, diagnosis, and treatment of IPTL are discussed. Accepted: 8 December 1997     

Glomerulocystic disease with hepatoblastoma in a neonate: a case report

Glomerulocystic disease (GCD) is a very rare condition. Only two previous reports have linked this condition with hepatoblastoma. We report a neonate with US evidence of grossly enlarged echogenic kidneys and features typical of hepatic fibrosis, complicated by the presence of a hepatoblastoma. The report discusses the differential diagnosis and highlights GCD as one cause of large, bright kidneys on US. It also adds further evidence to the suggested association between GCD and hepatoblastoma. Received: 15 May 1997 Accepted: 24 February 1998     

Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation

Composite tumors are extremely rare. Such tumors in adrenal glands are usually of neuroendocrine-neural type and occur mostly in adults. Their pathogenesis remains elusive. We report a patient with composite neuroblastoma (NB), adrenocortical tumor (ACT), and Li-Fraumeni syndrome (LFS) with germline TP53 R248W mutation. LFS predisposes to the development of leukemia, sarcomas, adrenocortical and breast carcinomas, brain tumors and, questionably, NB. A unique correlation between a single TP53 mutation (R337H) and ACT has been reported in southern Brazilian children. It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists.     

Adrenocortical carcinoma in two female children

Adrenocortical carcinoma is a rare tumor in children. This tumor is more likely to be hormonally active in children than in adults and tends to cause a variety of symptoms, which may mimic other benign endocrinopathies. These tumors are usually diagnosed at advanced stages and portend a dismal prognosis. We describe two cases of adrenocortical carcinoma. One child presented with Cushingoid symptoms secondary to hypercortisolism, including amenorrhea, hirsutism and weight gain. The other child presented with precocious puberty. Both children underwent resection of the tumors. We describe their presenting symptoms, postoperative course, adjuvant therapy and clinical course. Pertinent literature regarding the anatomy of the adrenal gland, pathology of adrenocortical carcinoma, factors influencing outcome, diagnostic modalities and treatment, are discussed. Accepted: 5 August 1999     

Pre-operative control of arterial hypertension using ketoconazole in pediatric patients with adrenocortical tumors

Adrenocortical tumors are rare in childhood, appearing more frequently in some regions such as South and South-eastern regions of Brazil and India. Common clinical signs include virilization, Cushing's syndrome, feminization and hypertension, either isolated or in association. The aim of this report is to present our experience with the pre-operative use of ketoconazole in children with an adrenocortical tumor to control elevated blood pressure levels non-responsive to the usual treatment. Over the last 16 years, of 46 children diagnosed as having adrenocortical tumor, 17 developed hypertension (diastolic pressure greater than the 95th percentile for age and sex according to data from the Task Force on Blood Pressure Control in Children), associated with virilization and/or Cushing's syndrome. In three of these 17 patients, conventional antihypertensive therapy failed, and they were treated with ketoconazole (200-300 mg/day). This resulted in rapid control of the blood pressure. It is concluded that in selected patients, ketoconazole may be useful adjuvant therapy for the palliative control of the arterial hypertension secondary to adrenocortical tumors, without side effects.     

Fetal adrenal transplants respond to ACTH and prevent addisonian crisis in adrenalectomized rats

The present study investigates whether fetal adrenal transplants into the omentum of adrenalectomized rats will be integrated into the recipient's endocrine system to provide competent adrenocortical function. The results demonstrate that fetal adrenals graft with a rich vascular supply, mature histologically, and produce increasing levels of corticosterone. When bilateral adrenalectomy is performed in the recipient, survival is prolonged and addisonian crisis can be prevented. Moreover, adrenocorticotrophic hormone levels decrease with increasing levels of corticosterone, indicating that the fetal grafts are integrated into the physiological pituitary-adrenocortical feedback system. Accepted: 25 June 1997