Cardiac Rhabdoid Tumor-A Rare Foe-Case Report and Literature Review.

Intracardiac masses are unusual findings in infants, and most of them are benign. Nevertheless, they may be associated with a significant degree of hemodynamic instability and/or arrhythmias. Malignant tumors of the heart rarely occur in children. Rhabdoid tumors are aggressive tumors with a dismal prognosis even when diagnosed early. Although rhabdomyomas are common cardiac tumors in infants, they are mostly benign. The most common sites of involvement are the kidneys and central nervous system, but soft tissues, lungs, and ovaries may also be affected. The diagnosis can be challenging, particularly in sites where they do not usually occur. In the present paper, we report the case of a 2-year-old boy diagnosed with cardiac rhabdoid tumor highlighting the importance of molecular studies and recent genetic discoveries with the purpose of improving the management of such cases. The aim of this educational case report and literature review is to raise awareness of cardiac masses in children and to point out diagnostic hints toward a cardiac tumor on various imaging modalities. Given the rarity of all tumors involving the heart and the lack of symptom specificity, a high degree of suspicion is needed to arrive at the correct diagnosis.

Endocardial fibroelastosis and dilated cardiomyopathy - the past and future of the interface between histology and genetics.

Endocardial fibroelastosis (EFE) signifies the pathological process by which collagen and elastin are focally or diffuse deposited in the endocardium of the left ventricle. The new layer causes left ventricular dysfunction sometimes with fulminant progression to heart failure. EFE is a major component in many congenital heart abnormalities but can also occur in the absence of heart malformations, either as a primary process or in response to cardiac injury. The endothelial-mesenchymal transition (EndMT) abnormalities seem to be main pathogenic factor in fibroelastosis development. The "gold standard" for diagnosis of primary EFE (pEFE) is the histological examination. Additionally, genetic studies may help to establish the natural course of the disease and to communicate prophylactic measures to family members of the affected child. Moreover, in the newborn, EFE takes the form of dilated cardiomyopathy (DCM) with unfavorable evolution. The proper management should be established considering negative prognostic factors, involving early transplantation, drug therapy and long-term follow-up.

Immunoproliferative small intestinal disease versus colonic monoblastic sarcoma in a 2-year-old boy.

The authors present a case of colonic monoblastic sarcoma, previously treated for other digestive abnormalities (malabsorbtion, Hirschprung's disease). Important similitudes with immunoproliferative small intestinal disease (IPSID) lymphoma were demonstrated for this patient (male, 2-year-old). His main admission complaints were failure to thrive, recurrent episodes of enterocolitis and malabsorbtion syndrome. Some particularities of this case are the young age and the extremely rapid development of the malignant disease in a patient with no previous signs of acute non-lymphoblastic leukemia. The initial diagnosis was of malabsorbtion syndrome, based on the clinical exam at presentation, and then the patient was thought to have a form of Hirschprung's disease, due to a functional intestinal disorder (slow transit). After the necropsy, pathologists diagnosed an immunoproliferative small intestinal disease, and four years later, they performed a more appropriate pathological exam, which explained better clinical symptoms associated to this complex case.

Update in pediatric primary brain tumors - from histology to genetically defined tumors.

In childhood and in adolescence, primary tumors of the central nervous system (CNS) are the second most common malignancy after leukemia. The most common entities are gliomas, craniopharyngiomas and embryonal tumors, including primitive neuroectodermal tumors of the CNS, such as medulloblastoma. Proper management of malignancies requires a histological diagnosis, especially in childhood, since diagnostic errors have a significant negative influence on the treatment and subsequently on the patient's care. Experimental research conducted in the last years regarding the genomic and epigenetic landscape of pediatric brain tumors has provided considerable help in understanding their pathogenesis. New mutations and new signaling pathways have been associated with pediatric neoplasia, according to recent studies. Current therapeutic protocols recommend triple therapy, consisting in the surgical resection of the tumor, radiotherapy and chemotherapy. However, the success of the therapy depends on the precociousness of establishing the diagnosis and initiating the treatment, age of the child, type of surgery (total∕partial), result of the histological examination, chemotherapy protocols and type of radiotherapy. Although immunotherapy and gene therapy continue to be a challenge, extensive studies are needed in order to confirm their promising role in the management of pediatric brain tumors.

Mesenteric panniculitis, a rare cause of acute surgical abdomen in children. Case report and literature review.

Mesenteric panniculitis appears as a less known benign condition due to its infrequency and not fully elucidated etiology; currently, less than 20 cases in children have been reported. It is characterized by a fibrotic and inflammatory transformation of the mesentery fat of the small intestine and, less commonly, of the colon. The 8-year-old patient whose case we report presented in our Service complaining of acute digestive symptoms. A causality relation with the small yet frequent injuries the child suffered at the abdominal level during his sports practice may be hypothesized, although this correlation cannot be proven. Laboratory test values are usually within the normal range in such patients, yet the inflammatory values are sometimes high, just as in our case. The imagistic diagnostic workup detected a solid mass at the level of the hepatic colic flexure, with a non-homogenous structure, with fine contrast uptake in the walls; perilesional fatty infiltration with "misty mesentery" appearance; infracentimetric adenopathies located in the mesentery root. The tumor was surgically excised and intestinal anastomosis was performed. Achieving the final pathological diagnosis of mesenteric panniculitis was a difficult task, as it required several differential diagnoses, by ruling out a local vasculitis process and an idiopathic inflammatory Crohn's-like disease. The patient's post-operative evolution was positive. The follow-up examinations at one month, six months, one year and two years showed a good general condition, a good nutrition state and clinical-paraclinical test results within normal values. A significant association of mesenteric panniculitis to other malignancies, as well as a predisposition of these patients to the subsequent occurrence of neoplasms has been noted in adults. As these findings have not yet been proven in children, due to the small number of cases and the absence of prospective studies, long-term monitoring is an absolute must.

A histopathological diagnosis of mesenteric cystic lymphangioma, clinically misdiagnosed as simple mesenteric cyst - case report.

Abdominal cystic lymphangiomas are relatively rare congenital malformations, predominantly found in the pediatric age group. They are usually found in the head and neck of affected children. Lymphangioma of the small-bowel mesentery is rare, having been reported for less than 1% of all lymphangiomas. The gross and histopathological findings may resemble benign multicystic mesothelioma and lymphangiomyoma. The immunohistochemical study for factor VIII-related antigen, D2-40, calretinin and human melanoma black-45 (HMB-45) is essential for diagnosis. Factor VIII-related antigen and D2-40 are positive in lymphangioma but negative in benign multicystic mesothelioma. HMB-45 shows positivity in the smooth-muscle cells around the lymphatic spaces of the lymphangiomyoma. This report describes a case of a large mesenteric lymphatic cyst identified in the neonatal period. Early diagnosis was possible due to the prenatal imagistic methods. Fetal ultrasound identified in the 17th week of gestational life an abdominal tumor that increased with fetal growth. The anatomopathological differential diagnosis and modalities of treatment are also discussed.

Longer survival of a patient with glioblastoma resected with 5-aminolevulinic acid (5-ALA)-guided surgery and foreign body reaction to polyglycolic acid (PGA) suture.

In recent years, there is a growing evidence that using 5-aminolevulinic acid (5-ALA)-guided resection of a cerebral glioblastoma, associated with chemoradiotherapy determine a prolonged survival of these patients, even though this period do not exceed 15 months. 5-ALA is a natural biochemical precursor of heme that is metabolized to fluorescent porphyrins, particularly protoporphyrin IX (PPIX) and no foreign reaction were noted until now. However, foreign body reaction developing in neurosurgery is documented in a few number of cases to suture material, surgical hemostatic material, or surgical glove starch, but up to now we could not find any article about granulomatous inflammation to polyglycolic acid (PGA) suture after brain tumor resection. Here we present a case of a delayed foreign body granuloma to PGA suture diagnosed after 10 months following fluorescence-guided surgery with 5-ALA for resection of a cerebral glioblastoma that was difficult to diagnosis both clinically and on magnetic resonance imaging (MRI). Moreover, the survival time was longer. We correlate the appearance of foreign body granuloma with the patient's persistent pre- and postoperative lymphocytosis. We also suggest that the chronic inflammation inhibited the proliferation of any tumoral cells which could remain in the tumor bed because we did not noticed on serial MRI scans a rapidly tumor growth during the first 10 months after the initial surgery as we have expected to be for a glioblastoma.

Esomeprazole in the treatment of patients with heartburn and other upper gastrointestinal symptoms, referred to primary care -- results of the in-practice evaluation program in Romania.

BACKGROUND AND AIM: The real-life clinical setting has been known to provide, sometimes, results different from controlled study outcomes. IPEP (InPractice Evaluation Program) was designed to evaluate the efficacy of esomeprazole in providing symptom relief in patients with reflux disease who present to primary care physicians for heartburn and symptoms that are poorly controlled by other drugs, thus testing the efficacy of the drug in day-to-day practice. METHODS: 119 primary care physicians and 22 internal medicine specialists, widely distributed geographically, participated in the program. The frequency and severity of three symptoms (heartburn, acid regurgitation and upper abdominal pain) were assessed before and at the end of one month treatment with esomeprazole 40 mg once daily. RESULTS: Follow-up data from 747 patients enrolled in IPEP was available to evaluate the efficacy of the intervention. Over 80% of the enrolled patients reported a decrease in the frequency of symptoms to less than one episode per week for all the three major symptoms (heartburn, acid regurgitation and upper abdominal pain). Regarding the severity of symptoms, 50-60% of the patients reported total relief, while 30-40% reported persistence of symptoms, but admitted them to be milder and with lower frequency. At the end of treatment, no patient reported severe or extremely severe symptoms. CONCLUSIONS: The results of this routine clinical practice program are consistent with data reported in controlled trials indicating the efficacy of esomeprazole even in patients with upper gastrointestinal symptoms "refractory" to treatments prescribed by primary care practitioners.

Heterotopic Gastric Mucosa in the Distal Part of Esophagus in a Teenager: Case Report.

Heterotopic gastric mucosa (HGM) of the esophagus is a congenital anomaly consisting of ectopic gastric mucosa. It may be connected with disorders of the upper gastrointestinal tract, exacerbated by Helicobacter pylori. The diagnosis of HGM is confirmed via endoscopy with biopsy. Histopathology provides the definitive diagnosis by demonstrating gastric mucosa adjacent to normal esophageal mucosa. HGM located in the distal esophagus needs differentiation from Barrett's esophagus. Barrett's esophagus is a well-known premalignant injury for adenocarcinoma of the esophagus. Malignant progression of HGM occurs in a stepwise pattern, following the metaplasia-dysplasia-adenocarcinoma sequence.We present a rare case of a teenage girl with HGM located in the distal esophagus, associated with chronic gastritis and biliary duodenogastric reflux. Endoscopy combined with biopsies is a mandatory method in clinical evaluation of metaplastic and nonmetaplastic changes within HGM of the esophagus.

Borderline ovarian cyst treated by laparoscopic surgery: clinical case report and literature review.

Borderline ovarian serous tumors are a rare distinct category of epithelial ovarian tumors, distinguished from both benign and invasive ovarian tumors. As borderline ovarian cysts are only a small part of the gynecological conditions of children, the therapeutic approach to this special type of tumor has not been standardized yet. Despite the technological breakthroughs that we have witnessed lately, the positive diagnosis of ovarian tumors is possible only by surgery and histopathological examination, and laparoscopic surgery has become the golden standard in the management of this condition. The aim of this case report is to demonstrate a very good long-term evolution after minimal invasive treatment and minimal damage to the reproductive apparatus in children with borderline ovarian tumors. The case reported in this paper is that of a 17-year-old adolescent with borderline serous papilliferous cystadenoma diagnosed by ultrasound and computed tomography (CT) scanning, whose CA-125 biomarker had normal values. As the purpose was to preserve the patient's reproductive function, we chose to remove and excise the cyst by laparoscopic surgery, without removing the ovaries. The patient's subsequent evolution was positive and at 19-year-old, she gave natural birth to a healthy baby girl. Nevertheless, as relapses are possible after many years, the patient's long-term monitoring is necessary.

Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome.

Primary ciliary dyskinesia (PCD) is associated with abnormalities in the structure of a function of motile cilia, causing impairment of muco-ciliary clearence, with bacterial overinfection of the upper and lower respiratory tract (chronic oto-sino-pulmonary disease), heterotaxia (situs abnormalities), with/without congenital heart disease, abnormal sperm motility with male infertility, higher frequency of ectopic pregnancy and female subfertility. The presence of recurrent respiratory tract infections in the pediatric age requires differentiation between primary immunodeficiency, diseases with abnormal mucus (e.g., cystic fibrosis) and abnormal ciliary diseases. This case was hospitalized for recurrent respiratory tract infections and total situs inversus at the age of five years, which has enabled the diagnosis of Kartagener syndrome. The PCD confirmation was performed by electron microscopy examination of nasal mucosa cells through which were confirmed dynein arms abnormalities. The diagnosis and early treatment of childhood PCD allows a positive development and a good prognosis, thus improving the quality of life.

Ectopic jejunal pancreas and congenital duodenal stenosis in a newborn patient: an unusual association.

Congenital duodenal stenosis is one of the most common causes of neonatal obstruction, which is frequently associated with annular pancreas and Down syndrome. Ectopic pancreas is defined as an abnormally situated pancreatic mass that lacks contact with normal pancreas. Although the association between duodenal stenosis and annular pancreas is very common, the presence of an ectopic island of pancreas in such cases is very rare. We present a case of unusual association of duodenal stenosis, jejunal ectopic pancreas in a neonate with Down syndrome.

Basal cell carcinomas in elderly patients treated by cryotherapy.

Basal cell carcinoma is a malignant skin tumor with high incidence in our country, especially in rural areas, on sun-exposed skin (particularly on the face) in elderly patients. We present three cases of basal cell carcinoma with good results with cryotherapy. This report aims to outline and to prove that in some difficult situations, a simple, inexpensive, easy-to-perform procedure with no contraindications and with minimal side effects (erythema, mild pain) can be applied and resolve such cases.

Childhood rhabdomyosarcoma. Anatomo-clinical and therapeutic study on 25 cases. Surgical implications.

UNLABELLED: Rhabdomyosarcomas (RMS) are the most frequent soft tissue sarcomas of childhood. Despite advances in knowledge about biological pathways of tumorigenesis, risk stratification and multimodal treatment, the immediate and long-term prognosis of these lesions in many countries with limited resources is still poor. PATIENTS AND METHODS: Twenty-five histologically confirmed pediatric RMS were recorded during the period of study. Demography, clinical presentation, diagnostic means, pretreatment staging and post-surgical grouping, histological type, therapy and outcome were evaluated. RESULTS: The mean age was 6.7 years; the group included 12 boys and 13 girls. Twelve lesions were localized in the genitourinary tract, eight in the trunk and extremities, two cases each in head and neck and retroperitoneum and one case in biliary tract. Primary surgical attempt was performed in 15 patients but only in nine of them underwent complete resection (three with free margins) other six cases achieving removal with residual disease. In 10 cases, solely biopsy was possible. Twenty-four patients received chemotherapy but only four cases performed radiation therapy. Overall survival rate was only 36% (nine cases). CONCLUSIONS: As mean feature children from our series had late presentation with locally extended (bulky and node positive) lesions and unfavorable sites. Improved multimodal management of RMS in recent years will probably lead to better survival curves in an increasing number of cases and an outstanding outcome in children with locally advanced disease.

Indications and limitations of histopathological skin investigation of Henoch-Schönlein purpura in children.

UNLABELLED: Henoch-Schönlein purpura, the most common primary vasculitis of the child, may cause, in some cases with atypical clinical picture, diagnostic difficulties with a significant prognosis impact, especially when occasionally "silent" renal symptoms coexist. The purpose of our study is, on one hand, to determine the histopathological investigation needs of Henoch-Schönlein purpura in children with atypical cutaneous manifestations or incomplete forms of illness and, on the other hand, to point out the correlation between the cutaneous histopathological aspects and other clinical and biological manifestations. RESULTS: Optical microscopy revealed signs of leukocytoclastic vasculitis in 11 of the 22 cases with ulcerative necrotic purpura and atypical clinical picture. Immunohistochemical examination proved that these were associated with IgA deposits on the vascular wall, sometimes accompanied by C3, fibrin, IgM and CD3. The severity of the skin manifestations was directly correlated with the severity of digestive and/or renal symptoms. CONCLUSIONS: Skin biopsy is indicated only in the atypical or incomplete forms of disease to support positive diagnosis by immunohistochemical evidence of the vascular IgA deposits. The severity and persistence of the ulceronecrotic purpuric rash seems to be directly related rather to the severity of the other clinical manifestations (digestive or renal) than to the generalized extensively purpuric appearance.

Vascular endothelial growth factor (VEGF) expression in the lung in toxic septic shock.

INTRODUCTION: The need for reasoning with medical evidence the different types of shock, especially when there are medical and legal implications, has determined the search of biological markers of the shock. In the case of toxic septic shock, the most important markers to be used are: the cytokines, the tumor necrosis factor-alpha (TNF-alpha) and interleukin 6 (IL-6), procalcitonin, lactoferin and the vascular endothelial growth factor (VEGF). VEGF has an essential role in angiogenesis and vascular permeability. MATERIALS AND METHODS: In our study group, we included 30 cases of different types of shock in which we studied the VEGF expression in the lungs. We added also 10 fragments of lung as control group. According to the etiology, the 30 cases of shock were: 15 with a toxic septic shock and 15 with a hemorrhagic shock. In all these cases we used the classical Hematoxylin and Eosin staining method and the immunohistochemical reactions for VEGF-A. Statistical analysis was performed using SPSS 13.0. RESULTS: The VEGF expression was decreased in all the cases of toxic septic shock, in the endothelium and also in the alveolar epithelium, compared to a high level of expression in other cases of shock and in the control lung. CONCLUSIONS: These data allow us to appreciate that VEGF has a different expression in different types of shock and in the normal lung. We observed a statistically significant difference between VEGF expression in toxic septic shock and hemorrhagic shock (p=0.000001). There is a similarity of VEGF expression between hemorrhagic shock and the control lungs (p=0.00001). An obviously low VEGF expression in the toxic septic shock represents a useful biological marker in the forensic medical cases.

[Henoch-Schonlein nephritis: diagnosis and prognosis problems in childhood]. / Nefrita Henoch-Schonlein: probleme de diagnostic si prognostic la copil.

UNLABELLED: Henoch-Schonlein purpura (HSP) is the most common vasculitis in childhood and is characterized by sistemic leukocytoclastic angiitis, mainly affecting small vessels of the skin, joints, gastro-intestinal tract and kidneys. Renal involvement is the most important cause of morbidity and mortality in patients with HSP. The aim of this study was to evaluate renal involvement in children with HPS and the prognoses of short- and long-term outcome of patients diagnosed with HS nephritis. MATERIAL AND METHOD: We conducted a retrospective study based on observation files of hospitalized children with Henoch-Schonlein purpura admitted in the Nephrology Department" Sf. Maria" Hospital, during 20 years. RESULTS: The results showed that the prognosis of Henoch-Schonlein nephritis is relatively good and long-time morbidity is predominantly associated with initial presentation and renal involvement.

[Children's Langerhans cell histiocytosis, diagnostic problems]. / Probleme de diagnostic în histiocitoza langerhans la copil.

Langerhans cell histiocytosis is a group of idiopathic disorders characterized by the proliferation of cells of the mononuclear phagocyte system and the dendritic cell system. From the clinical point of view there are 3 forms of histiocytosis encountered in child pathology: acute, disseminated called Abt-Letterer-Siwe (it usually affects children under 2 years of age), eosinophilic granuloma and the intermediate clinical form called Hand-Schuller-Christian disease. We present the case of a premature born child that had, even from the day she was born, a rash disseminated on the entire surface of the body associated with enlarged lymph nodes, hepatosplenomegaly and thrombocytopenia. The diagnosis of Langerhans cell Histiocytosis is difficult to establish and this case is an example that confirms it. Therefore, we present the difficulties in diagnosing this case and its particular evolution.

Treatment with Cyclophosphamide for steroid-resistant nephrotic syndrome in children.

The management of patients with steroid-resistant nephrotic syndrome remains difficult. We repport our experience with Cyclophosphamide therapy, in an attempt to compare the results between an oral protocol and two i.v. protocols. The complete and sustained general remission rate was 43.1%, which confirms the efficacy of the treatment, especially for children with minimal change nephrotic syndrome. For the i.v. administration we recommend only 6 month of therapy, due to severe side-effects in longer courses.