Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome.

Wolcott-Rallison syndrome (WRS) is a very rare genetic disorder, which is transmitted by autosomal recessive inheritance and results from mutations in the gene encoding the eukaryotic initiation factor 2-α kinase-3 (EIF2AK3). The cardinal features of the syndrome include early-onset insulin-dependent diabetes mellitus, multiple epiphyseal dysplasia, and growth retardation. We present the case of a 13-year-old Greek boy with a known history of infancy-onset diabetes mellitus and was found to have WRS at the age of 4 years.

Achievement of clinical remission in patients with juvenile idiopathic arthritis under a 2-10-year Etanercept exposure.

The objective of this retrospective study was to record the achievement of clinical remission (CR) in juvenile idiopathic arthritis patients under a 2-10 years' administration of Etanercept (ETN) and to detect any variables associated with CR. Patients previously resistant to conventional regimens were enrolled. The annual impact of ETN was assessed by: (a) the American College of Rheumatology pediatric criteria (ACRpedi), (b) the pre- and posttreatment disease activity score (juvenile arthritis disease activity score [JADAS71]), and (c) Wallace's criteria for CR.

Percutaneous ultrasound-guided renal biopsy in children: a single centre experience.

Background And Aim: The contribution of renal biopsy is of major importance in many renal diseases in children. In our study we aimed to evaluate retrospectively the indications, safety, efficacy and the spectrum of histopathological findings of percutaneous ultrasound-guided renal (PRB) biopsy during a 7 year period as well as to analyze specific groups of renal patients.

Patients And Methods: A total of 84 renal biopsies were performed in 81 children.

Safety and efficacy of adalimumab treatment in Greek children with juvenile idiopathic arthritis.

Objectives: To evaluate the safety and efficacy of adalimumab (AD) administration in patients with juvenile idiopathic arthritis (JIA).

Methods: Twenty-six patients were enrolled from January 2004 to January 2008 in this prospective observational study. Inclusion criteria were either unresponsiveness to disease-modifying anti-rheumatic drugs (DMARDs; n = 17) or to other anti-tumour necrosis factor (anti-TNF) agents (n = 9) or development of uveitis under other anti-TNFs (n = 2 of the 9).

A patient with Lemierre syndrome.

Lemierre syndrome, also known as postanginal sepsis, is a severe complication of an acute oropharyngeal infection that results in septic thrombophlebitis of the ipsilateral internal jugular vein with subsequent septicemia, often complicated by metastatic infections (Syed et al., Laryngoscope 117:1605-1610, 2007). We present the case of a previously healthy 12-year-old boy with Lemierre syndrome, caused by streptococci (Abiotrophia defectiva), complicating a subcutaneous neck abscess.

Evaluation of pelvic ultrasonography in the diagnosis and differentiation of various forms of sexual precocity in girls.

Objectives: This study was conducted to assess the role of pelvic ultrasound variables in discriminating between normal girls and girls with different forms of sexual precocity, and to establish reliable cut-off limits of pelvic ultrasound measurements for differentiating between these conditions.

Methods: Eighty-eight girls with different forms of sexual precocity (23 with premature thelarche, 15 with premature pubarche and 50 with central precocious puberty) were enrolled. All diagnoses were based on clinical examination with confirmation using the gonadotropin-releasing hormone-stimulation test.

Sonographic assessment of uterine and ovarian development in normal girls aged 1 to 12 years.

Purpose: To provide normal references of sonographic uterine and ovarian size in girls aged 1-12 years.

Method: Ninety-nine girls were enrolled in the study (mean age +/- SD, 6.9 +/- 2.

Tibial pseudotumor in a child with hemophilia.

Hemophilic pseudotumor is an uncommon complication seen in approximately 1-2% of patients with severe hemophilia. Hemophilic pseudotumors are distinguished into two subdivisions based on location, proximal or distal. Plain x-rays and CT are useful in diagnosis, but MR imaging is the diagnostic test of choice because of its sensitivity to the various blood products.

Bone age estimation and prediction of final height in patients with beta-thalassaemia major: a comparison between the two most common methods.

Background: Thalassaemic patients are in need of frequent assessment of bone age because of growth failure and pubertal disorders.

Objective: To compare the "rapid" Greulich and Pyle (G&P) method with the third edition of the Tanner and Whitehouse (TW3) method for determining skeletal maturity and predicting final height in thalassaemic patients.

Materials And Methods: A total of 191 radiographs from 58 patients (28 male, 30 female) were retrospectively evaluated by two investigators, one for each method.

123I-Metaiodobenzylguanidine accumulation in a urinoma and cortex of an obstructed kidney after surgical resection of an abdominal neuroblastoma.

Surgical ureteric injury is rare and often unsuspected for a long time. We present a child in whom an abdominal neuroblastoma was completely excised, but during surgery the left ureter was transected and anastomosed. One month later, during postoperative disease staging, abnormal (123)I-MIBG accumulation was observed in the left renal cortex and the left side of the abdomen.

Postoperative chylous ascites in a neonate treated successfully with octreotide: bile sludge and cholestasis.

We report a case of postoperative chylous ascites after surgical repair of congenital diaphragmatic hernia (CDH) in a full-term neonate. Treatment with subcutaneously administered octreotide resulted in rapid resolution of chylous effusion. Octreotide treatment had transient side effects, with bile sludge and cholestasis.

Cyclic voiding cystourethrography: is vesicoureteral reflux missed with standard voiding cystourethrography?

Vesicoureteral reflux (VUR) may occur intermittently and cyclic voiding cystourethrography (VCUG) can enhance the ability of the method to detect reflux. We undertook this prospective study to assess how often VUR may occur intermittently during VCUG and to evaluate the reliability of the method by performing cyclic VCUG. Two hundred seventy-five children younger than 2 years underwent two cycles of VCUG.

Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B).

Sanfillippo B syndrome (mucopolysaccharidosis (MPS) III, type B) is characterized by mild expression of the characteristic 'Hurler' phenotype and a severe central nervous system involvement. We report three patients with Sanfilippo B syndrome, referred to our clinic because of peculiar facies, delay in language development and behavioral problems, at the ages of 4, 3 and 5 years, respectively. At presentation they manifested clinical features of MPS, severe developmental retardation, radiological features of dysostosis mutiplex, as well as neurophysiological findings suggestive of carpal tunnel syndrome and sensorineural hearing impairment.

Incidence of ceftriaxone-associated gallbladder pseudolithiasis.

We prospectively evaluated the incidence of gallbladder pseudolithiasis in children treated with high doses of ceftriaxone for a variety of serious infections. We also monitored the time interval needed for this phenomenon to develop and resolve completely after initiation and cessation of treatment, respectively. Included in this study are 44 children treated with ceftriaxone 100 mg/kg/d divided into 2 equal intravenous doses and followed by serial abdominal sonography.

Conservative treatment of hemangiomas in infancy and childhood with interferon-alpha 2a.

Hemangioma is the most common tumor of infancy. Most hemangiomas proliferate for 8 to 18 months and then slowly regress over the next 5 to 8 years. So far, steroids have been the established means of treatment, but there have been some reports of the use of interferon-alpha 2a (IFN-A2a) in such tumors.

Late postoperative results in males treated for testicular torsion during childhood.

Successful preservation of a testis that has undergone torsion is directly related to the duration and degree of torsion. From 1979 to 1991, 75 cases of testicular torsion were treated. Eleven orchiectomies were performed; operative detorsion was done in the other 64 cases, with concurrent orchiopexy of both testicles.