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.

[Successful treatment of second hepatoblastoma relapse--case report].

Introduction: The prognosis of hepatoblastoma has changed since effective adjuvant chemotherapy had been introduced in 1980's. There is a general agreement that complete resection is the cornerstone of treatment for children with hepapatoblastoma and the only way for eventual cure.

Case Report: We describe a boy with relapsed hepatoblastoma presenting with elevated -fetoprotein (AFP) and no visible tumor by ultrasound and computed tomography (CT).

[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.

[The Lesch-Nyhan syndrome].

Deficiency of hypoxanthine phosphoribosyltransferase (HPRT) has a broad spectrum of clinical manifestations, from the complete enzyme defect, the Lesch-Nyhan syndrome with severe neurological deficiency to the partial defect associated only with uric acid overproduction and its consequences. We present a 5-year old boy with Lesch-Nyhan syndrome. He came to our hospital because of abdominal pain, vomiting and gross haematuria.

Surgical treatment of cloacal anomalies.

From 1989-1998 14 patients were treated with cloacal anomalies: 5 typical cloacas (PC), 5 posterior cloacas, and 4 cloacal exstrophies (CE); 12 underwent surgery. Four typical cloacas were resolved with posterior sagittal anorectovagino-urethroplasty (PSARVUP), whereas in the 5th total urogenital mobilization (TUM) was used. Three PCs were managed with transanorectal TUM and 2 with anterior TUM without opening the anal canal and rectum (without a protective colostomy).

Surgical treatment of the Müllerian duct remnants.

Background: Persistent Müllerian duct tissue in male individuals may result in an enlarged prostatic utricle (utricular cysts and utricle) or a Müllerian duct cysts, either distinctively or synonymously. In intersex patients Müllerian duct remnants (MDR) are an usual occurrence. Surgical excision is the definitive treatment of symptomatic remnants, as well as during the reconstruction of intersexual genitalia.

True hermaphroditism: 10 years' experience.

True hermaphroditism (TH) is the rarest variant of intersex malformations. By definition, these patients have both ovarian and testicular tissue. Most present due to ambiguous genitalia and/or gynecomastia.

[Intestinal intussusception in children. Ultrasonic diagnosis].

The aim of the paper is to demonstrate a successful use of ultrasound in the diagnosis of intestinal intussusception in children. Ultrasound decreases the number of irrigographic examinations and reduces diagnostic exposure of children to X-rays. In the last three years 35 children, aged from 3 months to 15 years (average 2 years), had a suspected clinical diagnosis of intussusception.

[Ultrasound in the diagnosis of hypertrophic pyloric stenosis].

The paper deals with the advantages of ultrasound diagnosis of hypertrophic pyloric stenosis in newborns. Ultrasound decreases the number of radiological examinations of gastroduodenum and reduces diagnostic exposure of children to X-rays. In the last three years 107 children had manifested clinical signs of hypertrophic pyloric stenosis.

[Sodium excretion in children with lithogenic disorders].

Introduction: The causes of nephrolithisis are multifactorial and have not yet been enough investigated [1]. Hypercalciuria is the most common cause of metabolic nephrolithiasis [2-4]. Close relationship between urinary calcium and urinary sodium has been a subject of reported observations in the past, showing that high urinary sodium is associated with high urinary calcium [5-7].

[Renal tubular function in children with hypercalciuria].

Introduction: Renal stone disease is commonly due to hypercalciuria [1, 2], which may be assessed either from a 24-hour urinary collection or from the fasting first morning urine. Hypercalciuria during childhood has been defined by a 24-hour calcium excretion greater than 3.5 mg/kg per day and/or calcium to creatinine ratio greater than 0.

[Adrenal gland hemorrhage in neonates--radiologic aspects].

Introduction: The relatively large adrenal glands of the newborn are vulnerable to mechanical trauma during delivery. Great birth weight, difficult labor, perinatal hypoxia and prematurity are predisposing factors of adrenal haemorrhage. Minor adrenal haemorrhage may not cause symptoms.

[Ultrasonographic findings of upper urinary tract dilatation after the subureteral teflon injection (STING) anti-reflux procedure in children].

A review of ultrasonographic urotract controls was done in 487 children (390 female and 97 male) in whom subureteral Teflon paste had been endoscopically infected in order to avoid vesicoureteral reflux. Dilatation of the upper urinary tract was visualized in 91 of 732 ureters (12.43%).