[RIGHT VENTRICULAR ARRHYTMOGENIC CARDIOMYOPATHY ­ HAVE WE AVOIDED A FAMILY TRAGEDY BY APPLYING CONTEMPORARY DIAGNOSTIC AND TREATMENT APPROACH?].

Arrhytmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by fibrofatty replacement, dominantly in the right, but often also in the left ventricle. It is a significant cause of sudden death in children and adolescents. A thorough family history and contemporary diagnostic and treatment approach are prerequisites for the prevention of the sudden death syndrome. The diagnosis is more often established in adults than in children. Patients: We present a family with four members affected and diagnosed with ARVC already in childhood/adolescence. The average age of symptom presentation was 12 years (10­14 years). The importance of family tree isemphasized and contemporary diagnostic and treatment methods, with the aim of sudden death prevention, are described. Conclusions: Family history is essential for the early ARVC diagnosis. There is a need for revision of current diagnostic criteria in pediatric population. In the future progression of fibrous tissue proportion in relation to age and the stage of the disease should be taken in account. Furthermore, the repolarisation abnormality is inappropriate as a criterion in children less than 14 years old, so in that age group less of present diagnostic criteria can be applied. A combination of modern implantable cardioverter defibrillator and radiofrequency ablation assures an excellent life quality in our patients. However, the longterm prognosis for our patients, because of a progressive course of the disease, remains uncertain.

Endoglin (CD 105) as a potential prognostic factor in neuroblastoma.

BACKGROUND: Endoglin (CD105) is a cytokine that modulates angiogenesis by regulating different cellular functions, including endothelial proliferation, differentiation, migration and formation of microvessels. CD105 is expressed strongly in the tumor vasculature, and intratumoral microvessel density (IMVD), as determined by the use of antibodies to CD105, it has been found to be an important prognostic indicator for outcome in various malignances. This study aims to determine if the clinical outcome of children with neuroblastoma is correlated with IMVD, as determined by CD105 staining and other prognostic factors. PROCEDURE: Tumor tissue specimens from 38 patients with peripheral neuroblastic tumors who underwent surgical resection or biopsy of their primary tumor without any preoperative therapy were retrospectively reviewed. IMVD was identified immunohistochemically using monoclonal antibodies against CD105. Prognostic factors, such as the MYCN oncogene, disease stage, histopathology and age, were correlated with outcome. RESULTS: Among 38 examined specimens, the median IMVD value was 23.2 (15.1-28.4). The IMVD identified by CD105 was significantly higher in patients with unfavorable histology, metastatic disease, MYCN amplification and COG high risk group. ROC analysis was used to find significant IMVD level regarding EFS. The cut-off >18 was selected according to the greatest sensitivity (100%) and specificity (68.42%). The multivariate Cox proportional hazards analysis demonstrated that MYCN amplification and IMVD were significant prognostic factors in predicting EFS (hazard ratio for MYCN amplification: 3.61; 95% CI: 1.20-10.90; P = 0.023 and for IMVD: 1.05; 95% CI: 1.00-1.09; P = 0.037). CONCLUSION: IMVD determined by CD105 appeared to be an independent prognostic factor for neuroblastoma.

Amyloidosis of the aortic root in a patient with polyarteritis nodosa.

Amyloidosis results from the deposition of insoluble fibrillar proteins in various tissues. Cardiac symptoms, when present, are usually related to congestive heart failure or arrhythmias. Amyloid involvement of the aortic root is exceedingly rare. We describe a case of aortic root amyloidosis in a patient with a long-standing history ofpolyarteritis nodosa.

[Testicular capillary hemangioma, report a twelve year patient]. / Kapilarni hemangiom testisa, prikaz dvanaestogodisnjeg bolesnika.

Capillary hemangiomas of the testis are extremly rare tumors. We reported a case of intratesticular hemangioma, unusually localisation of this vascular benign neoplasm. The patient was 12 year old boy, with hydrocele and a palpabile testicular mass. Scrotal sonography revealed varicocele and hydrocele in the left scrotal sac. There was a solid hypoechogenic zone 5 mm in diameter in the left testis. Tumor markers like serum level of beta human chorionic gonadotropin and alpha fetoprotein were normal. The patient underwent surgery, and intraoperativ frozen section showed a capillary hemangioma. The lesion was completly removed, but testis was preserved. Accordingly tu the literature, tumors of vascular origin are extremly rare. Capillary hemangiomas of the testis are similarity to malignant testicular solid tumors during physical examination, ultrasound examination and MR imaging. Before operation, it's hardly differentiate tumors of testis, but intraoperativ frozen section cuold be helpfull to differentiate a hemangioma from other testicular mass. Hemangioma is benign, but lesion must be complete removed to avoid recurence. In cases capillarx hemangimas, tumor enucleation with preservation tissue of the testis is possible if intraoperative frozen section examination can be performed.

Primary malignant fibrous histiocytoma of the heart with skeletal muscles metastases.

Malignant fibrous histiocytoma is an extremely rare primary malignant tumor of the heart. It is usually diagnosed when it is locally aggressive or has already metastasized. The prognosis is poor with an average survival time of one year. We report a case of recurrent left atrial malignant fibrous histiocytoma initially misdiagnosed as myxoma. The patient underwent repeated surgical resections followed by chemotherapy. Despite adjuvant chemotherapy, 18 months after initial diagnosis, definitive tumor relapse in left atrium was diagnosed. This is the 48th case of primary cardiac fibrous malignant histiocytoma reported in the literature.

Primary cardiac lymphoma presenting as atrial flutter and total heart block.

Primary cardiac lymphoma is extremely rare. We present the case of a 70-year-old man with primary cardiac lymphoma involving interatrial septum, presenting as atrial flutter and total heart block. The diagnosis was obtained by echocardiography-guided transvenous endocardial biopsy which revealed diffuse large B-cell non-Hodgkin's lymphoma, CD 20+. After six courses of immunochemotherapy the patient achieved complete remission. After 2 months he developed a series of epileptic attacks. Intracerebral lymphoma extension was diagnosed. Two cycles of high-dose methotrexate and cranial irradiation were applied, resulting in a second complete remission.

[Primary pigmented nodular adrenocortical disease as cause of Cushing's syndrome associated with Carney complex]. / Primarna pigmentna nodularna adrenokortikalna bolest kao uzrok Cushingova sindroma u sklopu Carneyeva kompleksa.

We report a 11-year-old girl and two 14-year-old boys with Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). In these patients, hypercortisolism is a consequence of autonomous cortisol secretion from adrenal glands and is ACTH-independent. Besides PPNAD, the girl had lentigines, spotty pigmentation on her bucal mucosa and lips and she also had schwannoma. One of the reported boys had prolactinoma. Considering this, those two patients fulfill the criteria for Carney complex which is a type of multiple endocrine neoplasia syndromes inherited in an autosomal dominant trait. The other boy had PPNAD but no other obvious signs of Carney complex were noticed. Family study didn't reveal any clinical or laboratory signs of Carney complex in our patients' first relatives. All of our patients underwent bilateral adrenalectomy (in one of the boys laparoscopic surgery was performed). Glucocorticoid and mineralocorticoid substitution has been started. Adrenal glands were macroscopically normal but pathohistological analysis confirmed the diagnosis of PPNAD.

[Severe respiratory distress due to ileal duplication cyst in the newborn]. / Teska dispneja uzrokovana cisticnom duplikaturom ileuma u novorodenceta.

Differential diagnosis of neonatal respiratory distress includes pulmonary and systemic disorders and anatomic problems compromising respiratory system. We report on a 2770-g female born to a 29-year-old gravida 3, para 2 woman after 34 weeks of gestation. Antenatal ultrasound performed in week 8 and 21 was normal. The infant was delivered by cesarean section after amniotic membranes had been ruptured for less than 12 hours due to signs of fetal distress. The Apgar score was 3 and 3 at 1 and 5 minutes, respectively. The infant was intubated and resuscitated, and transferred immediately to the neonatal intensive care unit. She had an extremely protuberant and cyanotic abdomen. Dilated cutaneous collateral vessels were apparent in the periumbilical region. Abdominal sonography showed cystic multiloculated tumorous mass filled with dense, flocculent content at the level of hepatic portal. The tumorous mass occupied the majority of the abdomen with caudal extension toward the pelvis and dorsally toward the spine. The liver was displaced high under the diaphragm with the left liver lobe in the left hemiabdomen. On x-ray the lung were collapsed due to a large abdominal mass in the right hemiabdomen that displaced the right diaphragm and intestines contralaterally. She soon developed bilateral pneumothoraces. Drainage and continuous suction were started. The infant failed to improve despite all attempts and died. On autopsy, an extremely large, mobile, multichambered, solitary cyst was found. It was attached to the mesenteric side of the ileum by its own thin peduncular stalk and had no communication with the remainder of the gut. It occupied the majority of the abdomen. Histologic section revealed a well-developed smooth muscle wall and inner mucosa of small bowel type. Respiratory distress is a common problem in premature infants. The majority of cases are due to pulmonary disorders (e. g., hyaline membrane disease, meconium aspiration syndrome, pneumonia), hypothermia, metabolic acidosis, anemia, and congenital heart disease. Anatomic problems including space occupying lesions are less common. Duplications of the alimentary tract in infants and children are rare congenital anomalies. Although symptoms can occur at any age, they usually present during the first year. In our patient, intraabdominal mass caused severe respiratory distress and respiratory failure in the first hours of postnatal life. This had been seen before only as a complication of intrathoracic lesions extending into the abdominal cavity. Pathology revealed spherical intestinal duplication that was completely separated from the alimentary tract. Embryologically, it was a localized duplication. Respiratory distress in our patient was refractory to all means of mechanical ventilation. Poor lung compliance was the consequence of prenatal lung hypoplasia and inadequate postnatal lung expansion due to the duplication cyst space occupying character and its compressive effect. Prenatal diagnosis was the child's only chance for survival but it was not made. Duplications of the alimentary tract can present a diagnostic challenge even in the first hours of life. They should be included in the differential diagnosis of severe respiratory distress, especially in premature infants in which timely prenatal diagnosis cannot be always made. We propose their inclusion among other space occupying lesions that might be the cause of severe respiratory distress even in the earliest neonatal period.

[Diagnostic value of myocardial biopsy in the diagnostic algorithm in cardiomyopathies in children]. / Dijagnosticka vrijednost biopsije miokarda u dijagramu dijagnostickog toka kardiomiopatija u djece.

The purpose of this work was to show the importance of myocardial bioptate analysis using different methods in the diagram of diagnostic flow in primary cardiomyopathies in children. According to the guidelines of the Task Force on Cardiomyopathies of the WHO/ISFC, we identified 121 children (50 f and 71 m) as having cardiomyopathy, giving an average occurrence for all cardiomyopathies of 38.81 for each 10,000 pts examined in our outpatient clinics for paediatric cardiology. The dilated cardiomyopathy (DCM) was identified in 52 pts (42.9%), hypertrophic cardiomyopathy (HCM) in 43 pts (35.5%) and restrictive cardiomyopathy (RCM) in 6 pts (4.8%). We placed 11 pts (9.0%) in the group of specific cardiomyopathies. In nine pts (7.4%), it was impossible to classify the cardiomyopathy. Most of those with DCM had been diagnosed prior to the age of 3 years (RR 1.9, 95% CI 1.4-2.47). There were no statistically significant differences in the incidences of DCM as compared to HCM (Z 0.923, p < 0.1779), but we encountered a significantly lower occurrence of RCM (Z 6.044, p < 0.001). The biopsy of endocardium and myocardium was done to confirm the etiology of primary cardiomyopathy in 22 pts, 12 m and 10 f, age 1 to 17 (average age 9.5y). The bioptates were analysed by light microscope (Dallas criteria) in all pts, 13 bioptates by direct immunofluorescence, 8 by immunohystochemical method (two hystochemically by the method of coloring with Kongo red, one by the microscopy in polarised light), 7 by electron microscope, and 5 by PCR method where DNA and RNA of cardiotrophic viruses was used. Out of 10 pts with DCM, in 4 myonecrosis as a consequence of acute myocarditis and in 6 signs of late inflammatory processes, as a consequence of chronic immunologic myocarditis, were found. In 4 of them rebiopsy proved complete healing. In 5 pts with HCM the diagnosis was confirmed hystologically. One bioptate was analysed by electron microscope to rule out mitochondriopathy. Out of 4 pts with RCM due to inflammation, in 3 pathohistological findings proved diagnosis and in one showed primary amyloidosis. In one patient pathohystological finding showed fibroelastosis. In one patient heart tumor (fibroma) has been found.