Diagnostic accuracy of multimodal noninvasive follow-up for pediatric ulcerative colitis: A single-center prospective study.

OBJECTIVES: Ulcerative colitis (UC) is a chronic inflammatory bowel disease (IBD) often requiring endoscopic evaluations, which can be uncomfortable and costly, especially for children. This study aimed to evaluate the diagnostic accuracy of a noninvasive approach combining fecal calprotectin (FCP), colonic ultrasonography (US), and colon capsule endoscopy (CCE) compared with standard ileocolonoscopy in pediatric UC. METHODS: UC children were enrolled and underwent FCP and US on Day 0, followed by CCE on Day 1 and ileocolonoscopy on Day 2. All procedures were performed by operators who were blinded to the patient's clinical history and all test results. The accuracy for disease activity and extension of each technique and their combination was assessed and compared. Tolerability and safety were also evaluated. RESULTS: Thirty-two patients were enrolled (15 males, mean age 13.2 ± 3.2 years). CCE showed a sensitivity of 95% and specificity of 100% in detecting colonic inflammation, with positive predictive value (PPV) and negative predictive value (NPV) of 100% and 92%, respectively. US demonstrated a sensitivity of 85% and specificity of 92%, with PPV and NPV of 94% and 79%. The combination of FCP, US, and CCE achieved 95% sensitivity and 100% specificity, with PPV of 100% and NPV of 92%. The noninvasive approach was better tolerated than colonoscopy (p < 0.05), and no serious adverse events were reported. CONCLUSION: The noninvasive approach combining fecal calprotectin (FCP), ultrasonography, and colon capsule endoscopy demonstrated high diagnostic accuracy and better tolerability compared with standard ileocolonoscopy in pediatric ulcerative colitis follow-up. Further multicenter studies are needed to confirm these findings and evaluate the reproducibility of this noninvasive approach.

Hyperinflammatory syndrome in a paediatric patient with a recent diagnosis of HIV/AIDS infection: hemophagocytic lymphohistiocytosis or immune reconstitution syndrome?

INTRODUCTION: Haemophagocytic lymphohistiocytosis is a rare and life-threatening condition caused by uncontrolled immune activation leading to excessive inflammation and tissue destruction. It could either be due to a primary genetic defect or be triggered by secondary causes such as infections, autoimmune diseases, rheumatological diseases or post-transplant immunosuppression. We here report the case of a 4-year-old child with a recent AIDS diagnosis who developed a severe systemic inflammation. CASE REPORT: We here report the case of a 4-year-old child with a recent AIDS diagnosis who was admitted to the ER with acute respiratory failure due to Pneumocystis jiroveci infection and Aspergillosis; the following microbiological assessment also showed a CMV, HSV, EBV and HHV-7 coinfection. On the 51st day after she'd started antiretroviral therapy, 39th after she'd followed a course of Bactrim and Caspofungin for PJI and Ambisome for pulmonary Aspergillosis, she started presenting fever, unresponsive to broad-spectrum antibiotic therapy. She also presented worsening of her clinical conditions, with evidence at the laboratory assessments of progressive raise in inflammatory indexes, coagulopathy, trilinear cytopenia and hyperferritinemia. To perform the differential diagnosis between IRIS and HLH, HLA-DR on T cells was studied, turning out negative for IRIS. Therefore, in the suspicion of HLH, a bone marrow aspirate and biopsy were performed with evidence of trilinear cytopenia, prevalence of T-cells and macrophages with signs of phagocytosis. She was started on high-dose steroids and Anakinra for a total of 29 days, resulting in prompt apyrexia and progressive improvement of her clinical conditions and laboratory results. CONCLUSION: To the best of our knowledge there is poor literature available about the differential diagnosis of HLH and IRIS, therefore medical management in the concurrence of these two conditions needs to be further investigated, especially in a setting where immunological testing is not quickly available. The clinical differences between these pathologies are blurred and the bone marrow biopsy within marker for IRIS helped us to distinguish these two entities.

Maintenance Therapy With the Lowest Effective Dose of Oral Viscous Budesonide in Children With Eosinophilic Esophagitis.

Eosinophilic esophagitis (EoE) is an immune-mediated condition characterized by symptoms of esophageal dysfunction and an eosinophilic inflammation of the esophagus.1 Swallowed topical steroids represent one of the possible strategies for inducing and maintaining remission in EoE.2 To date, a validated maintenance strategy has yet to be defined, especially in children. The available evidence suggests decreasing the dose after a successful induction therapy.3 No study has reported the efficacy of a continuous progressive dose reduction; thus, it is unknown if all patients need to use the same dosages and for how long.4,5.

Nasopharyngeal tubes in pediatric anesthesia: Is the flow-dependent pressure drop across the tube suitable for calculating oropharyngeal pressure?

BACKGROUND: Nasopharyngeal tubes are useful in pediatric anesthesia for insufflating oxygen and anesthetics. During nasopharyngeal tube-anesthesia, gas insufflation provides some positive oropharyngeal pressure that differs from the proximal airway pressure owing to the flow-dependent pressure drop across the nasopharyngeal tube (ΔPNPT ). AIMS: This study aimed to investigate whether ΔPNPT could be used for calculating oropharyngeal pressure during nasopharyngeal tube-assisted anesthesia. METHODS: In a physical model of nasopharyngeal tube-anesthesia, using Rohrer's equation, we calculated ΔPNPT for three nasopharyngeal tubes (3.5, 4.0, and 5.0 mm inner diameter) under oxygen and several sevoflurane in oxygen combinations in two ventilatory scenarios (continuous positive airway pressure and intermittent positive pressure ventilation). We then calculated oropharyngeal pressure as proximal airway pressure minus ΔPNPT . Calculated and measured oropharyngeal pressure couples of values were compared with the root mean square deviation to assess accuracy. We also investigated whether oropharyngeal pressure accuracy depends on the nasopharyngeal tube diameter, flow rate, gas composition, and leak size. Using ΔPNPT charts, we tested whether ΔPNPT calculation was feasible in clinical practice. RESULTS: When we tested small-diameter nasopharyngeal tubes at high-flow or high-peak inspiratory pressure, proximal airway pressure measurements markedly overestimated oropharyngeal pressure. Comparing measured and calculated maximum and minimum oropharyngeal pressure couples yielded root mean square deviations less than 0.5 cmH2 O regardless of ventilatory modality, nasopharyngeal tube diameter, flow rate, gas composition, and leak size. CONCLUSION: During nasopharyngeal tube-assisted anesthesia, proximal airway pressure readings on the anesthetic monitoring machine overestimate oropharyngeal pressure especially for smaller-diameter nasopharyngeal tubes and higher flow, and to a lesser extent for large leaks. Given the importance of calculating oropharyngeal pressure in guiding nasopharyngeal tube ventilation in clinical practice, we propose an accurate calculation using Rohrer's equation method, or approximating oropharyngeal pressure from flow and pressure readings on the anesthetic machine using the ΔPNPT charts.

Floating Bone Phenomenon in Pierre Robin Sequence.

After a failed mandibular osteodistraction, the wrong positioned mandible of a few patients with Pierre Robin sequence returned in the most functional position and regained a proper symmetry, without external intervention. The study aims to explain this self-adjustment and introduce the floating bone phenomenon.The inclusion criteria were severe micrognathia, Fast and Early Mandibular Distraction Osteogenesis protocol, postoperative mandibular wrong positioning, presurgery, immediate postsurgery, and long-term computed tomography scan. Five patients were included. The considered parameters were the distance between mandibular dental centerline and midsagittal facial axis, the rotation of the mandibular body, the magnitude of elongation, and the lowering of the mandibular body.Three patients went from a decentralization >4 mm in the activation phase to a normalization of the said value in the follow-up. In the same period, the interincisal point of 2 patients moved respectively from 0.5 mm on the left and 0.8 mm on the right to 1.2 mm and 1.6 mm on the right, respectively. The rotation of the mandibular body was meanly 25.6° among all patients. The mean value of the distraction was 14.1 mm. A difference of about 4.4 mm between the left and the right side was measured. The lowering of the mandible varied between 2.8 and 12.6 mm.All patients improved their symmetry. Four of them improved in all the measured parameters, while 1 patient presented a worsening in the decentralization of the interincisal point.The floating bone phenomenon could break new grounds in the management of patients with Pierre Robin sequence.

A Treat to Target Strategy Using Panenteric Capsule Endoscopy in Pediatric Patients With Crohn's Disease.

BACKGROUND & AIMS: Pan-enteric capsule endoscopy (PCE) is effective for assessment of small intestinal and colonic Crohn's disease (CD) in pediatric patients. We aimed to determine whether PCE can be used to monitor mucosal healing and deep remission, in a treat to target strategy for pediatric patients with CD. METHODS: We performed a prospective study of 48 children with a diagnosis of CD at a tertiary care pediatric gastroenterology unit; 46 patients were included in the final analysis. Biomarker, imaging, and PCE analyses were performed at baseline and after 24 and 52 weeks. Small bowel and colonic mucosal healing were defined by Lewis scores <135 and simple endoscopic score for CD ≤1, respectively. Clinical remission was defined as defined as a pediatric CD activity index score <10 and biomarker-based remission based on normal levels of biomarkers; deep remission was defined as a combination of clinical remission, biomarker-based remission, and mucosal healing. Treatments were adjusted based on findings from PCE (imaging was considered only for patients with negative findings from PCE). Therapies were introduced, optimized, switched, or combined at the discretion of treating clinicians. The primary outcome was the ability of PCE to assess mucosal healing and deep remission at 3 timepoints and to guide a treat to target strategy. RESULTS: PCE detected inflammation in 34 patients (71%) at baseline, 22 patients (46%) at week 24, and 18 patients (39%) at week 52 (P for comparison among timepoints <.05). Findings from PCE led to a change in therapy for 34 patients (71%) at baseline and 11 patients (23%) at 24 weeks, whereas only 2 patients with negative results from PCE (4%) changed therapies based on findings from imaging. When the treat to target strategy was applied, proportions of patients with mucosal healing and deep remission increased from 21% at baseline, to 54% at week 24, to 58% at week 52 (P for comparison among timepoints <.05); 2 patients (4%) did not respond to treatment. CONCLUSION: In a prospective study of 48 children with CD, we found a treat to target strategy, based on findings from PCE, to significantly increase the proportions of patients with mucosal healing and deep remission. CLINICAL TRIAL: gov no: NCT03161886.

A 12-Week Maintenance Therapy with a New Prepared Viscous Budesonide in Pediatric Eosinophilic Esophagitis.

BACKGROUND: A new prepared oral viscous budesonide (PVB) has been effective in inducing clinical and histological remission in pediatric eosinophilic esophagitis (EoE). AIMS: To evaluate the efficacy of a 12-week maintenance therapy on clinical, endoscopic, and histological remission using half of the dose used in the induction therapy. METHODS: We prospectively enrolled pediatric patients with active EoE. After 12 weeks of induction therapy with PVB (< 150 cm: 2 mg/day; ≥ 150 cm: 4 mg/day) patients received a maintenance dose of half of the dose used in the induction therapy (1 mg or 2 mg) for another 12 weeks. A 12-week follow-up was then performed in all patients after the end of therapy. Endoscopy was performed at weeks 0, 12, 24, and 36. Symptoms, endoscopy, and histology scores were also calculated. Serum cortisol was evaluated during the treatment period. RESULTS: We enrolled 20 children (15 males; median age 10 years; range 4-17). After the 12-week induction therapy 18 patients (90%) were in remission, with a significant decrease in the median peak of eosinophil count/HPF as well as a marked reduction in clinical, endoscopic, and histological scores (p < 0.01). At the end of the maintenance therapy (week 24), 17 patients (85%) were still in remission, while there were only 9 at week 36 (45%). No significant changes in cortisol levels were observed during the study period. CONCLUSIONS: The 12-week maintenance treatment with the half the dose of PVB was effective in sustaining remission at week 24; however, no reduction in the rate of relapse after suspension of treatment occurred.

Bevacizumab-containing regimen in relapsed/progressed brain tumors: a single-institution experience.

AIM: The aim of the study is to assess tumor response, treatment-related toxicities, progression-free survival (PFS), and overall survival (OS) in patients with relapsed/refractory brain tumors treated with bevacizumab-containing regimen. METHODS: Patients that had received I and II line treatments with or without megatherapy were included. Doses and schedule were as follows: bevacizumab (BVZ) 10 mg/kg i.v. with irinotecan (IRI) 150 mg/m2 i.v. every 2 weeks ± temozolamide (TMZ) 200 mg/m2 p.o. daily for 5 days every 4 weeks. TMZ was omitted in heavily pretreated cases. RESULTS: Between 2013 and 2018, 12 patients (3F/9M), median age 161 months (range 66-348), affected with medulloblastoma (n 7), or low-grade glioma (n 2), or high-grade glioma (n 3), received BVZ/IRI association (median courses 20, range 4-67); 3 of them continued single-agent BVZ (median courses 23, range 8-39). TMZ (median courses 8, range 2-26) was administered in eight patients and then stopped in three of them because of myelotoxicity or lack of compliance. Treatment was well tolerated. After 3 months, two complete responses, two partial responses, seven stable diseases, and one progressive disease were observed. Nine cases experienced an improvement in neurological symptoms. Median time to progression was 11 months (95% confidence interval, 4-18 months). Six-month and 2-year PFS were 75% and 42%, respectively. The OS is 33%; interestingly, two cases (one medulloblastoma and one high-grade glioma) are progression-free off-therapy since 30 and 48 months, respectively. CONCLUSIONS: BVZ/IRI association ± TMZ showed encouraging therapeutic activity and low toxicity in this series of relapsed/refractory brain tumors.

Acute bronchiolitis: Influence of viral co-infection in infants hospitalized over 12 consecutive epidemic seasons.

Bronchiolitis is the first lower respiratory tract viral infection manifesting in infants younger than 12 months of age. Our aim was to evaluate clinical and serological differences in infants with bronchiolitis from a single or from multiple viruses. Our secondary aim was to investigate differences in recurrent wheezing episodes after 12-24-36 months of follow-up. We reviewed the clinical records for 486 full-term infants hospitalized for bronchiolitis with at least one virus detected in the nasopharyngeal aspirate. In 431 (88.7%) patients one virus was detected and in 55 (11.3%) infants more than one virus was found. No differences were observed in the length of hospitalization, clinical severity score, O2 supplementation or admission to the intensive care unit. Single virus was associated with higher serum C-reactive protein (C-RP) than infants with multiple viruses and higher blood neutrophil counts. Respiratory syncytial virus (RSV) was the most frequently detected virus. RSV alone was associated with higher C-RP (P = 0.007), compared to RSV coinfection. Infants with human rhinovirus (hRV) alone had higher white blood cell counts, higher blood neutrophils, and higher serum C-RP levels than hRV co-infection (P = 0.029, P = 0.008, P = 0.008). RSV + hRV, the most frequent co-infection, was associated with lower neutrophil count and lower C-RP levels (P = 0.008, P = 0.016) and less fever (P = 0.012), when comparing RSV versus hRV versus RSV + hRV. No differences were found in the frequency of recurrent wheezing between single versus multiple viruses after bronchiolitis. Our findings suggest that in infants with bronchiolitis multiple viral co-infections can occur, without influence in the clinical severity of the disease. Infants with co-infection seems to mount a lower inflammatory response.

Intentional tracheoesophageal fistula cannulation for gastric decompression in type C esophageal atresia.

We describe a nonsurgical technique for managing gastric distention in infants with type C esophageal atresia, involving intubating the trachea with an umbilical catheter and entering the stomach through the fistula as soon as a flexible bronchoscope found its wide-open orifice. This technique might have a special role when gastric distention precedes other commonly used preventive measures.

A New Formulation of Oral Viscous Budesonide in Treating Paediatric Eosinophilic Oesophagitis: A Pilot Study.

OBJECTIVES: Oral viscous budesonide is a recent therapeutic option for eosinophilic oesophagitis (EoE) compared with dietary restriction and inhaled steroids. This single-centre, open-label, not blinded study aims to evaluate the efficacy and safety of a new, preprepared oral viscous budesonide suspension (PVB) in children and adolescents with EoE. METHODS: We treated 36 children with PVB (29 boys; median age 12 years) with EoE diagnosed according to European Society for Paediatric Gastroenterology Hepatology and Nutrition guidelines. Patients <150 and >150 cm height received 2 and 4 mg PVB daily, respectively, for 12 weeks. Upper gastrointestinal endoscopy was performed at baseline, after 12 weeks of therapy and 24 weeks after the end of therapy. Baseline and post-treatment scores were calculated for symptoms, endoscopy, and histology. Serum cortisol was performed at baseline, 12, and 36 weeks. RESULTS: At the end of PVB trial, endoscopy showed macroscopic remission in 32 patients (88.9%), whereas at histology median pre- and post-treatment peak eosinophil count/high power field (HPF) markedly decreased from 42.2 (range: 15-100) to 2.9 (range: 0-30); moreover, mean symptom and histology scores impressively improved compared with baseline (P < 0.01). At 24 weeks after the end of PVB therapy, endoscopy showed oesophageal relapse in 21 patients (58.3%), whereas 15 (41.7%) were still in remission. Seven children (19.4%) with positive multichannel intraluminal impedance-pH were treated also with proton pump inhibitors. No significant difference between pre-/post-treatment morning cortisol levels occurred. CONCLUSIONS: The new PVB suspension presented in the present study is effective and safe for treating children with proven EoE. Larger placebo-controlled clinical trials would provide more information about dosing, efficacy, and long-term safety of this formulation, specifically designed for the oesophagus.

Respiratory syncytial virus bronchiolitis, weather conditions and air pollution in an Italian urban area: An observational study.

BACKGROUND: In this study we sought to evaluate the association between viral bronchiolitis, weather conditions, and air pollution in an urban area in Italy. METHODS: We included infants hospitalized for acute bronchiolitis from 2004 to 2014. All infants underwent a nasal washing for virus detection. A regional agency network collected meteorological data (mean temperature, relative humidity and wind velocity) and the following air pollutants: sulfur dioxide, nitrogen oxide, carbon monoxide, ozone, benzene and suspended particulate matter measuring less than 10µm (PM10) and less than 2.5µm (PM2.5) in aerodynamic diameter. We obtained mean weekly concentration data for the day of admission, from the urban background monitoring sites nearest to each child's home address. Overdispersed Poisson regression model was fitted and adjusted for seasonality of the respiratory syncytial virus (RSV) infection, to evaluate the impact of individual characteristics and environmental factors on the probability of a being positive RSV. RESULTS: Of the 723 nasal washings from the infants enrolled, 266 (68%) contained RSV, 63 (16.1%) rhinovirus, 26 (6.6%) human bocavirus, 20 (5.1%) human metapneumovirus, and 16 (2.2%) other viruses. The number of RSV-positive infants correlated negatively with temperature (p < 0.001), and positively with relative humidity (p < 0.001). Air pollutant concentrations differed significantly during the peak RSV months and the other months. Benzene concentration was independently associated with RSV incidence (p = 0.0124). CONCLUSIONS: Seasonal weather conditions and concentration of air pollutants seem to influence RSV-related bronchiolitis epidemics in an Italian urban area.

Sudden benzodiazepine-induced resolution of post-operative pediatric cerebellar mutism syndrome: a clinical-SPECT study.

Post-operative pediatric cerebellar mutism syndrome (PPCMS) is a clinical syndrome arising from cerebellar injury and characterized by absence of speech and other possible symptoms and signs. Rare reports described some benefit after administration of dopamine agonist therapy, but no treatment has proven efficacy. In this paper, we report on the dramatic, sudden resolution of PPCMS induced by midazolam administration in a boy who underwent posterior fossa surgery for choroid plexus papilloma of the fourth ventricle. In addition to clinical improvement, post-midazolam single-photon emission computed tomography also demonstrated amelioration of brain perfusion.

Colon capsule endoscopy compared with other modalities in the evaluation of pediatric Crohn's disease of the small bowel and colon.

BACKGROUND AND AIMS: Data on colon capsule endoscopy (CCE) in evaluating the small bowel and colon concurrently are rare. This study aimed to evaluate the accuracy of CCE in assessing disease activity of the small bowel and colon in pediatric Crohn's disease (CD) by comparison with magnetic resonance enterography (MRE), small-intestine contrast US (SICUS), and ileocolonoscopy. METHODS: We prospectively enrolled 40 consecutive patients (22 male, 18 female, mean age 13.1 ± 3.1 years) with CD of the small bowel and colon. All underwent SICUS, MRE, CCE, and ileocolonoscopy sequentially over 5 days. All investigators were blinded to patient history and test results. Patients were classified as active or inactive for the small bowel and the colon according to specific criteria for each tool (simple endoscopic score for CD, Lewis score, US and magnetic resonance parameters of activity). For colon mucosa evaluation, ileocolonoscopy was the comparator. For the small bowel, a consensus panel was convened. RESULTS: Sensitivity of CCE to detect colon inflammation was 89%, and specificity was 100%. The positive predictive value (PPV) and negative predictive value (NPV) of CCE for colon inflammation were 100% and 91%, respectively. In the small bowel, CCE showed 90% sensitivity, 94% specificity, with PPV and NPV of 95% and 90%, respectively. Accuracy parameters for SICUS (sensitivity 90%, specificity 83%) and MRE (sensitivity 85%, specificity 89%) were lower than those for CCE. No serious adverse events related to the CCE procedure or preparation were reported. CONCLUSIONS: CCE is of great usefulness in evaluating both small bowel and colon mucosa in pediatric CD. This single, noninvasive tool makes it possible to evaluate the small-bowel and the colon concurrently with high diagnostic accuracy. Future multicenter studies need to define the role of CCE in the routine management of pediatric patients with CD. ( CLINICAL TRIAL REGISTRATION NUMBER: NCT02199626.).

The role of vancomycin in addition with colistin and meropenem against colistin-sensitive multidrug resistant Acinetobacter baumannii causing severe infections in a Paediatric Intensive Care Unit.

BACKGROUND: Acinetobacter baumannii has been associated with high morbidity and mortality rates, even in pediatric patients. Therapeutic options are limited, especially when the strain is multidrug resistant. METHODS: Clinical and microbiological analyses of 4 cases of systemic infections caused by multi drug resistant A. baumannii treated with colistin/vancomycin combination at a Pediatric Intensive Care Unit were performed in order to explore the potential synergistic activity of colistin plus vancomycin. All the patients were treated with colistin, meropenem and vancomycin. RESULTS: Four severe infections due to MDR A. baumannii were observed. All patients treated with colistin/vancomycin combination had a positive outcome with no infection relapses. Most importantly, no significant adverse events related to the simultaneous administration of COL plus VAN were observed. In our in-vitro experiments, the synergistic effect of the combination COL plus VAN showed an early bactericidal activity even at VAN concentration of 16 mg/L, which reflects the serum trough concentrations obtained in patients. DISCUSSION: An antimicrobial strategy based on the activity of colistin plus vancomycin was in-vitro and in-vivo effective in life-threatening infections caused by multidrug-resistant A. baumannii in a Pediatric Intensive Care Unit, in the absence of adverse effects. Colistin plus vancomycin were highly synergic and bactericidal against carbapenem-resistant, colistin sensitive A. baumannii whereas the addition of meropenem did not enhance the in-vitro activity of colistin plus vancomycin. CONCLUSIONS: Our results confirm existing data on the potential synergistic activity of a therapeutic strategy including colistin plus vancomycin and provide important new clinical information for its potential use as a therapeutic option against MDR A. baumannii infections, especially in the pediatric population.

Proven Epstein-Barr encephalitis with negative EBV-DNA load in cerebrospinal fluid after allogeneic hematopoietic stem cell transplantation in a child with acute lymphoblastic leukemia.

We report a case of EBV encephalitis in a seven-yr-old child with Ph+ ALL. Two months after an allogeneic HSCT from his HLA mismatched mother, the patient showed an altered sensorium, generalized seizures, and a left hemiparesis. Brain MRI demonstrated multiple lesions highly suggestive for viral encephalitis. Blood and CSF PCR analyses were negative for the most common viruses involved in immunocompromised patients including EBV. A cerebral biopsy was performed, which showed intense gliosis and perivascular lymphocytic cuffing. PCR analysis performed on brain tissue was positive only for the EBV genome, while extensive investigations for other viral infections were negative. The patient's neurological symptoms rapidly worsened and he died two months later. This case report suggests that in patients presenting neurological and radiological signs of encephalitis after an HSCT, an EBV involvement should be considered, even in the absence of CSF and blood PCR virus detection.

Severe early onset ethylmalonic encephalopathy with West syndrome.

Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1 gene, a mitochondrial sulfur dioxygenase. Neurologic signs and symptoms include progressively delayed development, hypotonia, seizures, and abnormal movements. We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. This is the first case described in literature with an early pure epileptic onset, presenting with West syndrome.

The use of piezosurgery in cranial surgery in children.

Piezosurgery is an alternative surgical technique, now widely tested, that uses ultrasounds for bone cutting. This device uses ultrasounds to section hard tissues without harming surrounding soft tissues. The authors analyzed their experience in craniomaxillofacial procedures with piezosurgery. A comparison between operation timing and complication rates between piezosurgery and traditional cutting instruments has been performed. A total of 27 patients were examined (15 females and 12 males; average age, of 5.5 months) affected by craniosynostosis. The aim of this study was to analyze the advantages and disadvantages of piezosurgery in pediatric craniofacial procedures. Piezoelectric device in this study has shown being a valid instrument for bone cutting in accurate procedures, because it allows performing a more precise and safer cutting, without the risk of harming surrounding tissues.