Rare clinical manifestation of multiple endocrine neoplasia type 1.

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a rare disorder characterized by tumors in various endocrine glands. It is caused by a mutation in the MEN1 gene. This gene encodes menin, a protein that regulates cell proliferation. The clinical manifestation of the syndrome most commonly involves hyperparathyroidism and pancreatic, pituitary gland, and adrenocortical adenomas. Although the first symptoms of the disease usually occur in patients under the age of 20, the data on MEN1 in children is scarce. Here, we report a case study of a familial MEN1 syndrome with a central nervous system ganglioglioma, a manifestation that has not been characterized so far. CASE REPORT: The diagnosis of a 17-year-old boy with hypoglycemia of unknown origin revealed the presence of a pancreatic tumor. As kidney stone disease and acute pancreatitis were reported in his father, and his asymptomatic sister was initially diagnosed with a pancreatic tumor, a familial MEN1 syndrome was suspected. Indeed, a pathogenic mutation within the MEN1 gene was detected. Further diagnosis revealed primary hyperparathyroidism in both children and their father, which is typical of MEN1. The girl also presented with hydrocephalus caused by ganglioglioma of the central nervous system. Surgical treatment was successfully conducted in both children. CONCLUSIONS: The reported family case provides evidence of the diagnostic and therapeutic difficulties related to the MEN1 syndrome. In children, the benefits of an early surgery should be considered in relation to the risks of possible surgical complications and consequences of a loss of endocrine gland function.

Congenital Hyperinsulinaemic Hypoglycaemia-A Review and Case Presentation.

Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of persistent hypoglycaemia in infants and children with incidence estimated at 1 per 50,000 live births. Congenital hyperinsulinism (CHI) is symptomatic mostly in early infancy and the neonatal period. Symptoms range from ones that are unspecific, such as poor feeding, lethargy, irritability, apnoea and hypothermia, to more serious symptoms, such as seizures and coma. During clinical examination, newborns present cardiomyopathy and hepatomegaly. The diagnosis of CHI is based on plasma glucose levels <54 mg/dL with detectable serum insulin and C-peptide, accompanied by suppressed or low serum ketone bodies and free fatty acids. The gold standard in determining the form of HH is fluorine-18-dihydroxyphenyloalanine PET ((18)F-DOPA PET). The first-line treatment of CHI is diazoxide, although patients with homozygous or compound heterozygous recessive mutations responsible for diffuse forms of CHI remain resistant to this therapy. The second-line drug is the somatostatin analogue octreotide. Other therapeutic options include lanreotide, glucagon, acarbose, sirolimus and everolimus. Surgery is required in cases unresponsive to pharmacological treatment. Focal lesionectomy or near-total pancreatectomy is performed in focal and diffuse forms of CHI, respectively. To prove how difficult the diagnosis and management of CHI is, we present a case of a patient admitted to our hospital.

[Current diagnostic criteria of PHACES syndrome]. / Aktualne kryteria rozpoznania zespolu PHACES.

The PHACES syndrome refers to coexistence of the Posterior fossa brain malformations, (Segmental Haemangiomas) of the face with (Arterial anomalie) and midline raphe defects (Sternal defects or Supraumbilical raphe). The diagnostic criteria have not been precisely established and are still discussed by the experts. The authors present current knowledge on PHACE syndrome and discuss suggested diagnostic criteria of PHACE syndrome.

Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in primary pigmented nodular adrenocortical disease--case presentation.

We present a 7-year-old girl with a 2-year history of decelerated growth rate and cushingoidal obesity, upon admission presenting with fixed hypertension. Cyclic hypercortisolemia with inhibited baseline and post-CRH stimulation ACTH level pointed to primary adrenal hypercortisolemia. Ultrasound, computed tomography (CT) and magnetic resonance imaging (MRI) showed normal adrenal glands. 131J-labeled cholesterol scintiscan showed a weak but slightly more expressed tracer uptake in the left adrenal gland. Cushing syndrome concomitant with isolated primary pigmented nodular adrenocortical disease (PPNAD) was diagnosed. After hypotensive pretreatment, a left adrenalectomy was performed, resulting in normalization of corticoadrenal function, blood pressure, Cushing features and growth rate. Histopathology confirmed PPNAD. In the course of infection, corticoadrenal function showed absence of adrenal reserve, and adrenal crisis. Hydrocortisone (HC) therapy, followed by HC supplementation was introduced. Four years later, a contralateral adrenalectomy was performed and total HC supplementation was introduced. Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in PPNAD are reviewed.

Pediatric Helicobacter pylori infection and circulating T-lymphocyte activation and differentiation.

BACKGROUND: In this study, H. pylori-infected and noninfected children with gastritis were compared to a control group with respect to circulating CD4(+) and CD8(+) T lymphocytes expressing activation and differentiation markers. Additionally, the lymphocyte phenotypes of children with gastritis were correlated with the gastric inflammation scores. MATERIALS AND METHODS: H. pylori infection status was assessed based on [¹³C]urea breath test, rapid urease test, and histology. Analysis of the lymphocyte surface molecule expression was carried out by triple-color flow cytometry. RESULTS: The group of H. pylori-infected children showed an elevated proportion of peripheral B cells with CD19(low) , along with a twofold increase in the percentage of memory (CD45RO(+)) CD4(+) and CD8(+) T-cell subsets (p < .05). Moreover, a positive correlation between the age and the percentage of these subsets was seen (r = .38, p = .04 and r = .56, p < .01, respectively). Children with gastritis but without infection had a slightly increased percentage of CD8(+) T cells and CD56(+) NK cells, CD3(high) T cells and CD45RO(high) CD4(+) T-cell subsets (p < .05). Both H. pylori-infected and noninfected children with gastritis were characterized by an increased percentage of memory/effector CD4(+) T cells, the presence of NK cells with CD56(high), memory T-cell subset with CD4(high), and naive, memory, memory/effector, and effector T-cell subsets with CD8(high) (p < .05). Gastric inflammation scores correlated positively with the percentage of CD4(+) T lymphocytes in H. pylori-infected children (r = .42, p = .03). In noninfected children, gastric inflammation scores correlated positively with the percentage of B cells (r = .45, p = .04). CONCLUSION: In H. pylori-negative children, gastritis was associated with an increased percentage of activated NK and T cells, and intermediate-differentiated peripheral blood CD4(+) T cells, which was more pronounced in H. pylori-positive children who also showed an increased B-cell response. However, increased inflammation was only associated with the elevation of CD4(+) T-cell percentage in H. pylori-positive children as well as B-cell percentage in H. pylori-negative children with gastritis.

Pancreaticopleural fistulas of different origin: Report of two cases and a review of literature.

BACKGROUND: Pancreaticopleural fistula (PPF), a form of internal pancreatic fistula, is a rare complication of acute or chronic pancreatitis or pancreatic trauma. CASE REPORT: We report two cases of PPF resulting in formation of pleural pancreatic pseudocysts. A 35-year-old male alcoholic patient with a history of recurrent episodes of acute pancreatitis was admitted due to a severe dyspnea. A CT scan showed a significant left pleural effusion with a total left lung atelectasis, compression of the mediastinum, and dislocation of the left diaphragm. A follow-up CT showed a fistula between the abdominal pancreatic pseudocyst and the left pleural cavity. The second case was a 13-year-old male patient, who was admitted for a splenic stump excision. Two weeks after the surgery the patient presented a massive pleural amylase-rich effusion. CT exam suggested a PPF, which was indirectly confirmed by a thoracoscopy. CONCLUSIONS: PPF should be considered in cases of massive pleural effusion and encapsulated pleural fluid collections in patients with a history of acute pancreatitis and surgery involving pancreas.

[Iatrogenic pleuropneumonia complicating central venous cannulation in a very low birth weight infant]. / Jatrogenna pleuropneumonia jako powilkanie cewnikowania zyl centralnych u noworodka.

BACKGROUND: Central venous cannulation is necessary for long-term parenteral nutrition in premature infants. Peripherally inserted long catheters are commonly used in these patients but even this relatively simple technique can end in serious complications. We present a case in which perforation of the vena cava and migration of the catheter to the intrapleural space resulted in multiple organ failure and death. CASE REPORT: A 700 g bw. infant, born at 28 weeks of gestation, was referred to our centre because of suspected bowel perforation. In the referring hospital, the infant had a central venous catheter inserted peripherally. The catheter migrated to the right intrapleural space, and parenteral formula was delivered over several hours to the right pleura, resulting in hydrothorax with serious compression of the lung and atelectasis. Emergency laparotomy did not reveal any pathology and a chest tube was inserted into the right pleura; the effusion fluid contained a large number fat particles. The child's condition worsened and he died 16 days after surgery because of multiple organ failure and sepsis. CONCLUSION: Accidental migrations of central venous catheters to the pleural space have been described by many authors. It can result in severe pneumonia, cardiac tamponade or sepsis and is often fatal. We conclude that central venous catheters in premature infants should be inserted under ultrasonography or fluoroscopy. Catheters should never be forced along vessels; their size ought to be adjusted to age, and a free outflow of blood should be obtained before they are used.

[Iatrogenic pleuropneumonia as a complication of nutritional treatment of preterm-delivery newborn]. / Jatrogenna pleuropneumonia jako powiklanie leczenia zywieniowego u noworodka urodzonego przedwczesnie.

Our study presents a case of pleuropneumonia caused by a leak of nutritional formula to pleural cavity, which was caused by perforation of the oesophagus. The child was born in 28 hbd with 1400 g birth weight and was fed with mother's milk by a nasogastric tube. From day 11 of life general state of the neonate worsened and on chest X-ray the contrast showed leaking into the right pleural cavity and the end of gastric tube was seen in the right lung area. With this diagnosis the child was admitted to the University Hospital in Bydgoszcz. The child was conservatively treated and in two contrast X-ray examinations there was no pathology of the oesophagus. CT of chest showed pleural empyema which was repeatedly punctured. On the 19th day of hospitalization thoracotomy with resection of interior pulmomery lobe was performed. From the 14th day after surgery, the child was again enterally fed and in good general state. He was discharged on the 51st day of hospitalization. This case should pay our attention to the fact that respiratory distress syndrome of preterm-delivery newborns may be caused by iatrogenic proceedings not only infections and lack of surfactant. Some complications can be accomplished with the nutrition treatment in every dimension.

Coagulation changes in a siamese twin in SIRS after death of the other twin: a case study.

BACKGROUND: Conjoined twins represent a rare case of embryonic failure. Siamese twins' final outcome is usually associated with poor prognosis due to complications, among which the inflammatory and septic disturbances are often present. CASE REPORT: The article describes Siamese twins of craniopagus type. One of the twins died of heart and aortic failure after 48 hours of life. The decision regarding surgical separation then became an emergency. At the same time laboratory results for the surviving twin I indicated steadily worsening coagulation functions and processes, which we believed were caused by the death of twin II, as well as by systemic inflammatory response syndrome (SIRS). CONCLUSIONS: Due to vascular conjunction between the twins' brains' circulatory systems the sequenced progress of coagulopathy was noticed in the surviving twin.

[Influence of the Pringle's maneuver time applied in children during hepatic tumors resections on the postoperative course of treatment]. / Wplyw czasu trwania manewru Pringle'a zastosowanego u dzieci podczas resekcji guzów watroby na przebieg pooperacyjny procesu leczniczego.

UNLABELLED: One of the ways of diminishing risk of massive blood loss during liver surgery is the temporal vascular exclusion of the liver/Pringle maneuver. Scanty publications on the problem of liver resections in children are based on very limited series of patients and did not define save periods of time of temporal vascular exclusion of the liver during operation in this group of patients. They also did not specify the effects arising from prolonged acute hepatocytes ischemia in children. The aim of the study was the assessment of the influence of length of time of Pringle maneuver on the liver cells function in the perioperative period and the assessment of its influence on the postoperative course of treatment. MATERIAL AND METHODS: Patients according to the duration of Pringle maneuver were divided into 2 groups. Group I consisted of 18 patients, in whom the duration of Pringle maneuver was below 32 minutes. Group II consisted of 17 patients, in whom the duration of Pringle maneuver was between 32 and 60 minutes. Selection of the periods of duration of Pringle maneuver was dictated by mean and mediana value of its lasting. In patients from both groups values of the level of AspAT, ALAT LDH and INR were assessed in postoperative day 1, 2 and 3 as well as time of mechanical ventilation, length of stay in ICU, and the duration of hospitalization. RESULTS: In group II of children operated with Pringle maneuver lasted between 32 and 60 minutes, statistically significant longer mean value of time of operation was indicated, as well as statistically significant higher mean value of biochemical parameters describing liver cells function, slow down dynamic of normalization of INR in the first 3 postoperative days and statistically significant higher mean value of length of time of hospitalization. CONCLUSIONS: Extension of time of Pringle maneuver in children from 30 to 60 minutes may be connected with transient postoperative biochemical dysfunction of hepatocytes characterized by slow down dynamic of normalization of the level of liver enzymes as well as may results in extension of time of hospitalization connected with necessity of normalization of transient postoperative biochemical dysfunction of hepatocytes.

Retrospective multi-institutional study on hemangiopericytoma in Polish children.

BACKGROUND: Pediatric hemangiopericytoma (HPC) is an extremely rare vascular tumor with little data available on its clinical course and management. METHODS: Fourteen children with HPC registered in Polish Pediatric Rare Tumors and Polish Pediatric Soft-tissue Sarcomas Studies between 1992 and 2002 are reported. RESULTS: Seven patients (F/M: 5/2, age 2-10 months) had infantile HPC, four of whom had primary tumors affecting superficial tissues of the trunk and upper limbs. No child had initial nodal or organ metastases. Primary excision (PE) was performed only in three patients with superficial lesions. They received no supplemental treatment. The remaining four children responded well to chemotherapy (CHT), entering complete remission after CHT alone (n= 2) or after delayed resection (n= 2). No relapses occurred and all patients were alive 48-146 months after treatment. Seven patients (F/M: 2/5, age 3.2-16.5 years) had adult-type HPC, five of whom had tumors localized in superficial tissues of the lower limbs or head/neck. All patients presented with locally advanced disease. PE was performed in five children (complete in four); all patients were alive at follow up of 40-127 months. Three patients died of recurrence after incomplete PE despite supplemental chemo- and radiotherapy. CONCLUSIONS: Complete surgical excision remains the mainstay of treatment for both HPC types. In unresectable adult-type HPC adjuvant chemo- and radiotherapy should be administered in macro- and microscopic tumor residues, but the prognosis is poor despite supplemental treatment. High chemo-responsiveness of infantile-type HPC produces a favorable outcome even in cases of unresectable, life-threatening tumors.

[Influence of Pringle maneuver used in children during hepatic tumors resections on fluid resuscitation and intraoperative blood loss]. / Wplyw manewru Pringle'a zastosowanego u dzieci podczas resekcji guzów watroby na terapie plynowa i sródoperacyjna utrate krwi.

UNLABELLED: Partial vascular exclusion (Pringle maneuver) is one of the methods diminishing risk of massive intraoperative blood loss. Effects of Pringle maneuver were deeply explored in adults due to big series of operated patients but experiences with Pringle maneuver in children are very limited. The aim of the study was to estimate usefulness of Pringle maneuver in the limitation of intraoperative blood loss and the amount of intraoperative fluid therapy necessary during liver resections in children. MATERIAL AND METHODS: The group of 70 children operated because of liver tumors during the period of 20 years were studied. Patients were divided into 2 subgroups. Group I consisted of 35 patients without Pringle maneuver during liver resection. Group II was consisted of 35 children operated with Pringle maneuver. In all patients intraoperative diuresis and hemodynamic parameters of blood circulation were monitored and the blood loss and fluid therapy were assessed. RESULTS: In group I operated on without Pringle maneuver statistically significant higher amount of blood transfusions were indicated and in group II statistically significant higher amount of colloids were indicated. CONCLUSIONS: The results achieved documented that introduction of Pringle maneuver during liver resection in children allow to achieve statistically significant limitation of blood loss during operation but hemodynamic disorders during partial vascular exclusion (Pringle maneuver) requires transfusion of higher amounts of volume colloid fluids.

[Skin biopsy in diagnosis of chronic graft-versus-host disease in patients after allogeneic haematopoietic stem cell transplantation: pathologist's point of view on quantitative scoring system]. / Biopsje skóry w diagnostyce choroby przeszczep-przeciwko-gospodarzowi u pacjentow po transplantacji allogenicznych komórek hematopoetycznych: spojrzenie patologa na klasyfikacje ilosciowa.

BACKGROUND: Pathology diagnosis of chronic graft-versus-host-disease (GVHD) after allogeneic haematopoietic stem cell transplantation (allo-HSCT) is an important issue in clinical follow-up, in spite of frequent difficulties in interpretation., related to dynamic changes occurring in the skin during the disease, as well as to sequelae of basic disease and immunosuppressive therapy. Recently presented Consensus NIH (National Health Institute, Bethesda, USA) of histopathologic (HP) analysis is still complex and intrinsically divergent, thus clinically difficult to implement. OBJECTIVE: Analysis of clinical value of histological evaluation results of skin biopsy in children after allo-HSCT and its correlation with clinical status. PATIENTS AND METHODS: Ten skin biopsies were taken from 7 patients (4 boys, 3 girls, age 3-15 years) after allo-HSCT (6 MFD, 1 MMUD) and analyzed after hematoxylin/eosine and immunohistochemical (CD3, CD45T, CD20) staining. Pathology analysis was based on commonly accepted criteria enabling simple and unambiguous interpretation. Results were compared with clinical data and indications for immunosuppressive therapy. RESULTS: It was found that reliable and coherent interpretation can be made when following parameters were taken into account: 1. in epithelium: the presence of apoptosis, archetypical changes and vacuolar degeneration in the basilar layer, presence of CD3/CD45 in the epidermis; 2. in the dermis: the extent of collagenization, presence of melanophages and lymphocyte infiltrations; 3. in the eccrine glands epithelium: eccrine glands atrophy and presence of lymphocytes. CONCLUSIONS: A new scoring system of skin biopsy analysis in patients with chronic GVHD based on the modified NIH Consensus was proposed. The preliminary clinical value of histological results was assessed. Skin biopsy evaluation based on limited qualitative and quantitative analysis of lymphocyte infiltrates together with studies on intensity of apoptosis, collagenization and archetypical changes is a valuable diagnostic method complementary to clinical records, enabling easier undertaking of therapeutic decisions.

[Primary carcinoma of the thyroid growing in thyroglossal duct cyst: presentation of two cases]. / Pierwotny rak tarczycy w obrebie torbieli przewodu tarczowo-jezykowego: opis dwóch przypadków.

Thyroglossal duct remnants (TGDR), most often cysts, are the most common type of developmental abnormalities of the thyroid gland. In about 1 to 2% of TGDR neoplastic transformation occurs. Papillary carcinoma of the thyroid may be encountered in over 90% of such cases. Two cases of primary papillary carcinoma of the thyroid in TGDR in young girls are presented. The diagnostic and therapeutic problems are shared, and up-to-date management guidelines in similar cases are discussed.

Total thyroidectomy and adjuvant radioiodine treatment independently decrease locoregional recurrence risk in childhood and adolescent differentiated thyroid cancer.

UNLABELLED: We sought to assess whether extensive surgical treatment, postsurgical radioiodine therapy, or both decrease the risk of locoregional recurrence (LR) after curative primary treatment in children and adolescents diagnosed with differentiated thyroid cancer (DTC) at age

[Diagnosis and treatment of thyroid cancer in children in the multicenter analysis in Poland for PPGGL]. / Diagnostyka i leczenie raka tarczycy u dzieci w Polscew analizie wieloosrodkowej dla PPGGL.

INTRODUCTION: Differentiated thyroid carcinoma (DTC) in children presents different biological behavior in comparison to adults. Authors presents preliminary results of multicenter analysis concerning incidence, diagnostics and treatment of DTC in children. MATERIAL AND METHODS: The study is a retrospective analysis of 107 pediatric patients from 14 academic centers based on the data from 2000 to 2005 obtained by questionnaire in hospitals involved in the treatment of DTC in children. RESULTS: Papillary thyroid cancer was diagnosed in 83 children, follicular thyroid cancer in 10 children and medullary thyroid cancer in 14 children. Incidence of DTC in children was estimated between 18 and 23 cases per year. The biggest group of patients consisted of children between 11 and 15 years of age, with girls to boys ratio 3.3 : 1. Clinically DTC in children presented most often as solitary thyroid nodule. Cervical lymphadenopathy was observed in 42% of patients. Intraoperative verification indicated metastatic nodes in 50% of children. Low stage DTC predominated (T1 in 36% and T2 in 26% of children). One step surgery was performed in 65% of children with DTC, two step surgery in 25% of patients. I131 therapy was undertaken in 80% of children. Lung metastases were indicated in post therapeutic studies in 14% of children with DTC. Prophylactic thyroidectomies were performed in 79% of children in the group of patients with MTC and RET gene mutations. CONCLUSIONS: The necessity of introduction of unified therapeutic standard in children with DTC in Poland is underlined.

[Completion total thyroidectomy in children with differentiated thyroid cancer]. / Radykalizacja leczenia operacyjnego zrósnicowanego raka tarczycy u dzieci.

INTRODUCTION: The optimal surgical treatment of children with differentiated thyroid cancer remains an important point of discussion. Especially the need for completion operation is questioned in young patients. Our objective was to examine the rate of residual neoplastic disease after non radical initial operation. MATERIAL AND METHODS: From the 235 children diagnosed with differentiated thyroid cancer, 131 (56%) needed completion operation due to incomplete primary surgery. Completion operation involved thyroid bed, lymph nodes or both respectively in 91 (39%), 13 (6%) and 27 (11%) cases. Risk factors responsible for residual disease were evaluated by means of logistic regression analysis. RESULTS: Residual disease was detected in 46 (35%) of reoperated children (25% in thyroid bed and 85% in lymph node of lateral neck compartment). Sex and age did not influence the risk of residual disease in thyroid bed or lymph nodes. Papillary type of cancer and multifocality increased risk of residual disease in thyroid bed respectively by the factor of 15 (95% CI: 2-125) and 2.3 (95% CI: 1.2-4.4). Infiltration of thyroid capsule did not correlate with the risk of residual disease. Lymph node metastases in primary operation increased risk of residual disease by the factor of 16 (95% CI: 1.2-245). Histopathology, multifocality of primary tumour or infiltration of lymph node capsule did not influence the risk of residual disease in lymph nodes of lateral neck compartment. CONCLUSIONS: In children with differentiated thyroid cancer residual disease is diagnosed in about 1/3 of non radically operated cases. This high incidence justifies completion operations. The risk of residual disease is significantly increased in papillary thyroid cancer, multifocal tumours and cases with lymph node metastases.

Abdominal wall repair using a biodegradable scaffold seeded with cells.

BACKGROUND/PURPOSE: The repair of large abdominal wall defects is still a challenge for pediatric surgeons. Synthetic materials, however, may lead to high complication rates. This study was aimed at applying tissue-engineering methods to abdominal wall repair. METHODS: 3T3 mouse fibroblasts were expanded in vitro. In the next step, a biodegradable material--polyglycolic acid (PGA)--was actively seeded with 10(7) cells/scm of PGA scaffold. Culture medium (Dulbecco's Modified Eagle's Medium with 10% fetal bovine serum) was changed every 6 hours after seeding cells on PGA fibers. Under general anaesthesia, C57BL/6J black mice underwent creation of a 2 x 3-cm abdominal wall defect (60%-70% of abdominal surface). The defect was repaired in the experimental group with the fibroblast-seeded PGA scaffold. In the first control group, the defect was covered with acellular PGA, and in the second control group, by skin closure. Animals were killed after 30 days to assess the histologic and gross findings. RESULTS: No abdominal hernia was found in animals repaired with cell-seeded and acellular scaffolds. All animals with skin closure died within 7 days. In every case, tissue-engineered construct was thicker then in controls. Histologic and gross examination revealed a good neovascularisation in tissue-engineered abdominal walls comparing to the acellular matrix. There was no intensive scar formation between abdominal wall and skin. CONCLUSIONS: Engineered soft tissue constructs can provide structural replacement of severe and large abdominal wall defects. Tissue engineering in the near future will possibly enter clinical practice.