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. He presented with acute liver and renal insufficiency in addition to skeletal dysplasia and neurodevelopmental retardation. The clinical suspicion of WRS was confirmed by molecular analysis of the EIF2AK3 gene. The patient was found to be a compound heterozygote with two different novel mutations (c.2776C>T, p.R902X and c.3038A>G, p.Y989C). The current patient is one of the longer survivors.

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. A total of 41 patients (F: 31) were registered. The median age and disease duration at baseline were 10.6 and 4.17 years, respectively, and their disease course was mainly polyarthritis (32/41). In respect to baseline, there was an impressive JADAS71 reduction posttreatment, most prominent after the first year. From year 1 to 5, more than 50 % of the patients achieved and retained CR and 66 % reached an ACRpedi 70, whereas after the 5th year, no patient was withdrawn due to an ACRpedi <30. JADAS71 at baseline was not associated with the subsequent CR achievement. However, JADAS71 1-year posttreatment had a significant association with the CR of the second posttreatment year, (p = 0.028, OR 0.79; 95 % CI 0.63-0.98) and a similar trend was observed for the following years. These findings emphasize the sustained impact of ETN in the achievement of CR. A low JADAS71 score 1-year posttreatment, may be associated with the maintenance of CR over the next treatment year.

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 +/- 2.4 years [range, 1-12 years]). Pubertal status was classified according to Tanner staging, whereas for height and weight assessment a standard stadiometer and weight scale were employed. All subjects underwent pelvic sonographic examination for the measurement of uterine length, volume, ratio of anteroposterior diameter at the fundus divided by the anteroposterior diameter at the cervix (fundal-cervical [F/C] ratio), and ovarian volume and morphology. RESULTS: A gradual increase with age was observed in all uterine and ovarian measurements. Cubic model analysis provided the best curve estimation for uterine length, uterine volume, and ovarian volume in relation to age. Uterine length, uterine volume, ovarian volume and F/C ratio were significantly correlated to both age and height. With respect to ovarian morphology, there was a gradual decrease in frequency of the homogeneous and the paucicystic appearances with increasing age. The macrocystic appearance was observed after the age of 6 years, and its frequency increased gradually with age. CONCLUSION: There is a continuous increase in size of internal female genitalia from early childhood until the onset of puberty. We have provided reference percentile charts of normal uterine length, uterine volume, and ovarian volume in girls aged 1-12 years.

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. These findings were consistent with acute total obstruction and urinoma formation and were subsequently confirmed by renography and MRI. Despite treatment efforts, a significant amount of left renal mass and function were lost over the following months. These unusual findings are new additions to the literature regarding potential false-positive interpretations of (123)I-MIBG scans.

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. The choice of therapy depends on many parameters, such as the size of the tumor, the age of the patient, and the relation with underlying organs. In most cases of asymptomatic hemophilic pseudotumor, conservative treatment with administration of missing factor as well as immobilization is recommended. The authors describe a 13-year-old boy with severe hemophilia A, who presented with a tibial pseudotumor a few months after an injury. He was conservatively treated for a long period, with daily administration of recombinant factor VIII. His clinical condition improved shortly after therapy induction, but radiological improvement has been moderate. Case history, imaging findings, and therapeutic options are discussed.

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. In 47 radiographs from 15 patients having attained their adult height, predicted final height was calculated according to each method. RESULTS: The mean bone ages determined by both the G&P and TW3 methods were lower than mean chronological age, although the differences were not statistically significant (10.04 +/- 3.69 years and 9.98 +/- 3.39 years vs. 10.78 +/- 3.96 years, respectively). Both methods had a tendency to over-estimate final height. Overall, the TW3 method seemed to be more accurate than the G&P method (mean absolute error 3.21 +/- 2.51 years vs. 3.99 +/- 2.99 years, respectively, P=0.048). CONCLUSIONS: The same method should be used when serial assessments are performed, as both methods provide similarly reliable, although not equivalent, results. The TW3 height prediction method seemed to be more accurate in patients with beta-thalassaemia major than the G&P method, albeit with a large confidence interval.

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. Ninety-seven refluxing kidney-ureter units (KUU) from 68 children were identified during the two cycles. In 18 children VUR was demonstrated in the first, and in 50 children only in the second, cycle. Discrepancy between the two cycles regarding the presence and/or grade of VUR was observed in 85 KUU from 63 of 275 children (23%). In 21 of these 63 children VUR was > or = grade III. In the presence of reflux in the first cycle, discordant findings in the second cycle were found in 11 of 23 KUU (48%) or in 13 of 18 children (72.2%). In the absence of VUR in the first cycle, the second cycle disclosed reflux in 50 of 257 children (19.5%). In conclusion, intermittent VUR occurred in up to 23% of children undergoing VCUG. In more than one-third of them VUR was of major degree. Cyclic VCUG can enhance the ability of the method to detect and grade reflux.