X-linked hypophosphatemic rickets: case report.

Introduction: X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene.

Case Outline: A 2.

Pseudoachondroplasia: a case report.

Introduction: Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity and early onset osteoarthrosis. We present the girl with the early expressed and severe PSACH born to clinically and radiographically unaffected parents.

Indications and results of renal biopsy in children: a 10-year review from a single center in Serbia.

Background: This study was conducted to retrospectively investigate the indications for renal biopsy in native kidneys and to analyze pathological findings in the last 10 years in a single tertiary pediatric hospital in Serbia.

Methods: All patients who underwent renal biopsy at our hospital between 2001 and 2010 were included in the present study. Renal biopsy was performed under fluoroscopy with a biopsy gun.

Minimally invasive inguinal technique for the management of duplex ureteric anomaly.

Objective: To present outcomes of a minimally invasive inguinal technique for the separation of the distal part of ureters in duplex systems and for the extravesical ureteroneocystostomy of only the pathologically involved ureter.

Materials And Methods: From November 2001 to February 2007, we performed extravesical reimplantation of only the involved ureter in 21 duplex systems, of which 14 were refluxing (megaureters) and seven had obstruction of the ureterovesical junction. The mean (range) age of the patients was 39 (17-59) months.

[Treatment of psoas haematoma in a patient with haemophilia and inhibitors].

Introduction: Particular problem in treating haemophiliacs with serious muscle bleeding such as iliopsoas haematoma, are patients with inhibitor.

Case Outline: Our study describes three episodes of psoas haematoma in a patient with haemophilia and inhibitor successfully treated with recombinant activated factor VII (rFVIIa).

Conclusion: Based on our experience, initiating therapy within two hours in our patient, contributed to successful treatment, although small cumulative doses of rFVIIa were used.

[Gigantic ovarian and suprarenal cysts ten years after enucleation of unilateral retinoblastoma].

Introduction: Retinoblastoma (RB) is the most common eye tumour in children and is curable. Patients with hereditary RB have increased risk of developing additional tumours, predominantly sarcomas. The published results on the treatment of bilateral RB have shown that 10-15% of patients develop second primary tumours (SPT).

[Clinical characteristics and survival of children with hepatoblastoma--single centre experience].

Introduction: Hepatoblastoma is the most frequent malignant liver tumour of childhood and it accounts for 1% of all paediatric cancers. The outcome is significantly improved by introducing intensive chemotherapy regimens followed by complete surgical tumour resection. The long-term survival is 75-95% at present.

Ruptured intramural intestinal hematoma in an adolescent patient with severe hemophilia A.

We report on a 17-year-old patient with severe hemophilia A without inhibitors who developed abdominal bleeding after an episode of severe cough. Abdominal ultrasound showed intramural intestinal hematoma as well as large amount of peritoneal fluid appearing as blood and right hematocele. Abdominal CT revealed markedly thickened intestinal wall in sigmoidal region.

Myeloid sarcoma presenting with bilateral proptosis and kidney infiltration.

The authors describe a male infant with a history of transient pancytopenia who developed progressive bilateral proptosis associated with diffuse infiltration of the kidney and normal bone marrow. The histopathological examination of the kidney revealed diffuse infiltration of cells of myeloid origin with monocytic differentiation. Although orbital involvement by myeloid sarcoma, with or without concurrent acute myeloid leukemia, is well known, there are distinctive features in this patient that are not reported in the literature, namely bilateral proptosis and simultaneous presence of bilateral kidney infiltration, which enabled diagnosis.

[Renal transplantation again at the University Children's Hospital of Belgrade].

After a 15-year break, pediatric renal transplantation restarted again at the University Children's Hospital of Belgrade. Owing to this, best relationship between the number of new patients with terminal renal failure and those with functioning graft has been recently achieved, and mortality of children with terminal renal failure has been decreased to zero. The aim of this paper was to show the recent results achieved in pediatric renal transplantation at the University Children's Hospital in Belgrade.

[Conservative treatment of hypertrophic pyloric stenosis in children].

Introduction: Hypertrophy of the pylorus causing obstruction of the gastric outlet, or infantile hypertrophic pyloric stenosis (IHPS), is the most common indication for abdominal surgery in infancy. The incidence of the condition is 3-4 per 1000 live births, and male infants are affected more often than females, in 4:1 ratio. Vomiting, as the first symptom, most often occurs between the third and fourth week after birth, rarely after second month, but there have been few reports of vomiting as late as 5 months.

[Surgical management of developmental lung anomalies].

Prenatal diagnosis allows for insight into the evaluation of fetal lung anomalies. Serial ultrasonographic studies of fetuses helped in evaluation and definition of the natural course of these lesions as well as necessity for fetal therapy. It has been found that the overall prognosis depends on the size of the lung mass and the secondary derangement of normal lung tissue and cardiovascular system.