Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1, ATP6V0A4, and ATP6V1B1 genes have been described as the cause of the disease, transmitted as either an autosomal dominant or recessive trait. Particular clinical features, such as sensorineural hearing loss, have been mainly described in association with mutations in one gene instead of the others. Nevertheless, the diagnosis of distal renal tubular acidosis is essentially based on clinical and laboratory findings, and the series of patients described so far are usually represented by small cohorts. Therefore, a strict genotype-phenotype correlation is still lacking, and questions about whether clinical and laboratory data should direct the genetic analysis remain open. Here, we applied next-generation sequencing in 89 patients with a clinical diagnosis of distal renal tubular acidosis, analyzing the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and the clinical phenotype. A genetic cause was determined in 71.9% of cases. In our group of sporadic cases, clinical features, including sensorineural hearing loss, are not specific indicators of the causal underlying gene. Mutations in the ATP6V0A4 gene are quite as frequent as mutations in ATP6V1B1 in patients with recessive disease. Chronic kidney disease was frequent in patients with a long history of the disease. Thus, our results suggest that when distal renal tubular acidosis is suspected, complete genetic testing could be considered, irrespective of the clinical phenotype of the patient

OBJECTIVE The use of high-field intraoperative MRI has been largely studied for the treatment of intracranial tumors in adult patients. In this study, the authors investigated the safety, advantages, and limitations of high-field iMRI for cranial neurosurgical procedures in pediatric patients, with particular attention to craniopharyngiomas and gliomas. METHODS The authors performed 82 surgical procedures in patients under 16 years of age (range 0.8–15 years) over an 8-year period (2007–2014) using iMRI. The population was divided into 3 groups based on the condition treated: sellar region tumors (Group 1), gliomas (Group 2), and other pathological entities (Group 3). The patients' pre- and postoperative neurological status, the presence of residual tumor, the number of intraoperative scans, and complications were evaluated. RESULTS In Group 1, gross-total resection (GTR) was performed in 22 (88%) of the procedures and subtotal resection (STR) in 3 (12%). In Group 2, GTR, STR, and partial resection (PR) were performed, respectively, in 15 (56%), 7 (26%), and 5 (18%) of the procedures. In Group 3, GTR was performed in 28 (93%) and STR in 2 (7%) of the procedures. In cases of craniopharyngioma (Group 1) and glioma (Group 2) in which a complete removal was planned, iMRI allowed localization of residual lesions and attainment of the surgical goal through further resection, respectively, in 18% and 27% of the procedures. Moreover, in gliomas the resection could be extended from partial to subtotal in 50% of the cases. In 17% of the patients in Group 3, iMRI enabled the identification and further removal of tumor remnants. There was no intra- or postoperative complication related to the use of iMRI despite special technical difficulties in smaller children. CONCLUSIONS In this study, the use of iMRI in children proved to be safe. It was most effective in increasing the extent of tumor resection, especially in patients with low-grade gliomas and craniopharyngiomas. The most prominent disadvantage of high-field iMRI was the limitation with respect to operative positioning due to the configuration of the surgical table.

The current study of patients with large VSs has shown that the position of the facial nerve in relation to the tumor can be predicted reliably (in 91%) using DT imaging-based fiber tracking. These are preliminary results that need further verification in a larger series.

In summer 2013, an excess of paediatric cases of haemolytic uraemic syndrome (HUS) in a southern region of Italy prompted the investigation of a community-wide outbreak of Shiga toxin 2-producing Escherichia coli (STEC) O26:H11 infections. Case finding was based on testing patients with HUS or bloody diarrhoea for STEC infection by microbiological and serological methods. A case–control study was conducted to identify the source of the outbreak. STEC O26 infection was identified in 20 children (median age 17 months) with HUS, two of whom reported severe neurological sequelae. No cases in adults were detected. Molecular typing showed that two distinct STEC O26:H11 strains were involved. The case–control study showed an association between STEC O26 infection and consumption of dairy products from two local plants, but not with specific ready-to-eat products. E.coli O26:H11 strains lacking the stx genes were isolated from bulk milk and curd samples, but their PFGE profiles did not match those of the outbreak isolates. This outbreak supports the view that infections with Stx2-producing E. coli O26 in children have a high probability of progressing to HUS and represent an emerging public health problem in Europe.

Complete microsurgical removal of VSs after failed radiosurgery is possible with an acceptable morbidity rate. The functional outcome, however, tends to be worse than in nontreated patients. Surgery after previous partial tumor removal and radiosurgery is most challenging and related to worse outcome.

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Background Thrombotic microangiopathy (TMA) is a clinical syndrome encompassing a large group of rare but severe disorders including thrombotic thrombocytopenic purpura (TTP) and both typical and atypical forms of hemolytic uremic syndrome (HUS). The key role of the complement system is well known in TTP and atypical HUS, but recent reports describe its involvement in the pathogenesis of HUS secondary to gastrointestinal infections due to Shiga toxin-producing Escherichia coli (STEC). Methods TMA mainly affects the kidney, but extra-renal complications are frequently described. The involvement of the central nervous system (CNS) represents often a life-threatening condition and it can result in serious long-term disability in HUS patients who overcome the acute phase of illness. In the present study, we retrospectively analyzed a pediatric cohort of a single tertiary pediatric hospital in Southern Italy, in which this complication occurred in 12/54 children (22% of cases), of whom five with severe neurological involvement had been successfully treated with eculizumab. Results The great clinical variability of brain injury in our cohort has led us to retrospectively build a Bneurological score^useful to assess the clinical severity of neurologic involvement. Subjects with higher neurologic score due to the most severe CNS involvement resulted in the group of patients early treated with eculizumab, obtaining a good clinical response (four out five patients). In conclusion, the early treatment with eculizumab in children with severe neurological involvement during STEC-HUS was associated with complete regression of both acute kidney injury (AKI) and neurological lesions observed at magnetic resonance imaging (MRI).

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