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This article, titled "Diagnostic insights and clinical outcomes of fetal urinary extravasation," presents a retrospective cohort study on cases of prenatal-diagnosed fetal urinary extravasation. The study identified seven cases out of approximately 1750 targeted scans for kidney and urinary tract anomalies, with a gender split of three males and four females. The cases had diverse pre- and postnatal clinical manifestations and outcomes, with some requiring surgical interventions and others being effectively managed conservatively. The article emphasizes the importance of prenatal diagnosis in revealing the underlying etiology and improving parental counseling regarding postnatal surgical intervention and renal outcome. [Extracted from the article]

Background: Congenital bilateral absence of the vas deferens (CBAVD) is presumed to occur prenatally and is present in over 99% of adult males with cystic fibrosis (CF). Aims: To describe [...]

The aim of this study was to report catheter malposition during voiding cystourethrography. Eight hundred forty-three voiding cystourethrography (265 males and 578 females, aged 1 week to 12 years, mean age 2 years) were performed during a period of 4 years. The conventional standard procedure was applied. In 3 cases with passed history of urinary tract infection the catheter entered directly into the ureter. In all these cases the uretero-vesical reflux was present on the same side where the catheter entered. It appears that insertion of a catheter into the ureter is possible only in the presence of an anomaly or pathology at the vesicoureteric junction. [ABSTRACT FROM AUTHOR]

CAPN3 encodes calpain-3, a calcium-activated skeletal muscle-specific protease. Pathogenic variants in CAPN3 are associated with autosomal recessive and autosomal dominant limb-girdle muscular dystrophy (LGMDR1/LGMD2A and LGMDD4, respectively). Patients present with weakness of the pelvic and shoulder girdle and elevated creatine kinase levels. Here, we report in detail on three children and one adult from four unrelated Israeli families of Iraqi Jewish descent with features of LGMDR1, who were found to harbor the same homozygous missense variant in CAPN3 , p.Gln123Lys. All subjects manifested lower limb weakness with onset in the first or second decades of life; the three children presented with toe walking and significantly elevated creatine kinase levels (6,000-21,000U/L). The variant affects an evolutionarily conserved amino acid in a conserved domain of the protein common to the calpain super family. We conclude that the p.Gln123Lys variant in CAPN3 is associated with autosomal recessive limb-girdle muscular dystrophy with a recognizable clinical phenotype. Furthermore, this variant likely represents a founder mutation in individuals of Iraqi Jewish ancestry. These findings can help guide workup for individuals presenting with suggestive features and should be considered in relevant population screening. [ABSTRACT FROM AUTHOR]

Aim: To characterise tumours that involve the neural foramina in children, including prevalence, demographics, and imaging features.Material and Methods: This retrospective single-centre study comprised 36 boys and 34 girls who presented with spinal or paraspinal lesions involving the neural foramina. Two certified radiologists reviewed the imaging features, including the level of spinal involvement, the number of involved foramina, foraminal widening, tumour epicentre, and cord compression. Medical charts were reviewed for patients' demographics and tumour pathology. Tumours were classified as benign or malignant, and neuroblastomas were further classified as low or intermediate risk versus high risk.Results: Thirty-three (47%) of the patients had neuroblastic tumours. Fourteen (20%) of the patients had sarcomas (mainly Ewing sarcoma). Other less common aetiologies included neurofibromas, germ cell tumours, Langerhans cell histiocytosis and haemangiomas. Neuroblastic tumours were particularly common in the thoraco-lumbar region, and considerably less prevalent in the sacral and cervical regions. Additional features, such as foraminal widening, the number of foramina involved, and cord compression, did not help discriminate between neuroblastic and non-neuroblastic tumours. Most tumours (80%) were malignant. Most benign tumours (>50%) were associated with a genetic predisposition syndrome.Conclusion: In evaluating neoplasms that involve the neural foramina in children, neuroblastic tumours are most common. Nevertheless, other aetiologies should be considered, mainly sarcomas. Most lesions in children are malignant. When encountering a benign mass, genetic counselling should be considered. [ABSTRACT FROM AUTHOR]

Background: Cloacal malformation represents the rarest and most complex congenital anorectal malformation in females and is characterized by the convergence of urinary, gynecological, and intestinal systems within a single common channel. Three-dimensional computed tomography reconstruction (3D CT cloacagram) has emerged as a valuable method for anatomical assessment and preoperative planning., Objectives: To evaluate our experience with 3D CT cloacagram and assess its results., Methods: This retrospective case series included all patients with cloacal malformation who underwent preoperative 3D CT cloacagram at a single institution during 2019-2023. Collected data included patient characteristics, timing of the 3D CT cloacagram, results of the 3D CT cloacagram, comparison with endoscopic results, surgical procedures, and postoperative outcome., Results: Six patients with cloacal malformation were included in this study, including two with posterior cloaca. The median common channel length on 3D CT cloacagram was 24.5 mm (range 9-48 mm) and the median urethral length was 15.5 mm (range 13-24 mm). The surgical approach involved a combined abdominoperineal approach in three patients and posterior sagittal anorectal vaginal urethral plasty in one patient. Two patients were awaiting surgical reconstruction at the time of publication., Conclusions: Our implementation of 3D cloacagram has facilitated precise measurements of both the urethra and common channel lengths, two key factors in formulating surgical strategies for cloacal reconstruction. Moreover, this technique has markedly improved our capacity for surgical planning contributing to colorectal, gynecological, and urological perspectives.

Background: The prevalence of obesity among children and adolescents is rising and poses a major health concern. Bariatric surgery is well established in adults and has become an option for adolescents. Thiamine (B1) deficiency is common following bariatric surgery in adults. It may present as Beri-Beri, Wernicke encephalopathy, or Korsakoff psychosis., Objective: Our aim was to describe the clinical features, diagnosis, and treatment of adolescents who presented with B1 deficiency after bariatric surgery at one center, and to summarize the data from the literature., Patients: Three adolescents with morbid obesity (two boys and one girl, aged 15.5 to- 17-years-old), presented at Schneider Children's Medical Center of Israel with progressive lower limb pain and weakness 2-3 month following a bariatric procedure (sleeve gastrectomy or narrowing of a bariatric band). The girl also had upper limb involvement and cerebellar signs. All three were non-compliant with micronutrient supplementation. After admission, they received intravenous B1 and oral multivitamin supplementation, and their symptoms improved considerably., Conclusions: Micronutrient supplementation following bariatric surgery is crucial to prevent deficiencies. In adolescents, compliance with micronutrient supplementation should be assessed before and after such surgery. Thiamine deficiency may cause polyneuropathy, among other symptoms. Treatment reduces the severity of neurological complications., (© 2024 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.)

Purpose: The purpose of this study is to describe a case series of infants with isolated congenital sixth nerve palsy (ICSNP) and suggest a management algorithm based on our experience and a review of the literature., Methods: A retrospective cohort design was used. The clinical database of a single tertiary medical center was reviewed to identify all patients diagnosed with ICSNP from January 2020 to November 2022. Data were collected as follows: demographic parameters, age at initial presentation, presenting symptoms and signs, findings on ophthalmic and neurologic examinations, findings on follow-up, and outcome., Results: Six patients were included. All were born at term. The average gestational weight was 3675.7 ± 262.7 g. Three mothers had gestational diabetes. Five deliveries necessitated labor induction either by oxytocin (n = 4) or by membrane stripping followed by oxytocin (n = 1). One had also gone a forceps assisted delivery. Symptoms were noticed in all newborns by their parents within the first week of life. Ophthalmological and neurological examinations were otherwise unremarkable apart of one patient with a head turn to the side of the involved eye. Four patients underwent brain imaging that were unremarkable. All abduction deficits resolved by 1 to 3 months of age. Follow up examinations were unremarkable (mean follow up 14.3 ± 5.0 months, range 4-23)., Conclusions: This case series, together with previous reports, support ICSNP's benign nature. We suggest an initial basic work-up that solely includes ophthalmological and neurological examinations which will be elaborated in case of any additional pathologic findings or if ICSNP does not fully resolve by 3 months., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction: Correct diagnosis of acute appendicitis may sometimes be challenging. The Negative appendectomy rate (NAR) has declined in the recent years in Europe and USA, in part due to better diagnostic imaging tools. The aim of this study was to examine the rates of negative appendectomy in our institution, investigate trends in its incidence, and identify possible predicting factors., Methods: A retrospective cohort study, including all patients younger than 18 years of age who underwent an appendectomy between 2007 and 2021 in a single tertiary medical center. Data regarding patient's demographics, laboratory and imaging results, pathological results and clinical outcome were collected., Results: Between 2007 and 2021, a total of 3937 pediatric patients underwent appendectomy due to a working diagnosis of acute appendicitis. Overall, 143 patients (3.6%) had normal appendix on pathological examination. However, in the last 5 years, the rate of normal appendix was 1.9%, together with an increased rate of pre-operative imaging (from 40% to nearly 100%)., Conclusion: Low NAR under 2% is an achievable benchmark in the era of accessible pre-operative imaging. In unequivocal cases, a secondary survey that includes repeated physical examination, blood work and imaging is recommended and may result in near-zero rates of NAR., (© 2023 Royal Australasian College of Surgeons.)

Background: The Lémann Index [LI] and the recently updated LI are tools for measuring structural bowel damage in adults with Crohn's disease [CD] but have not been evaluated in children. We aimed to validate the updated LI in the prospective multicentre ImageKids study of paediatric CD., Methods: We included children with CD undergoing magnetic resonance enterography [MRE], pelvic magnetic resonance imaging [MRI] and ileocolonoscopy. Half were followed for 18 months, when MRE was repeated. Serum was collected for fibrosis-related proteomic markers. The LI was calculated by central readers from the MRE, ileocolonoscopy, physical examination and surgical data. Reliability and construct validity were assessed at baseline, while responsiveness and test-retest reliability were explored longitudinally., Results: In total, 240 children were included (mean age, 14.2 ± 2.5 years; median disease duration, 2.2 years [interquartile range, IQR 0.25-4.42]; median baseline LI, 4.23 [IQR 2.0-8.8]). The updated LI had excellent inter-observer reliability (interclass correlation coefficient [ICC] = 0.94, 95% confidence interval [CI] 0.92-0.95) but poor, although statistically significant, correlation with radiologist and gastroenterologist global assessments of damage and with serum proteomic levels of fibrotic markers [rho = 0.15-0.30, most p < 0.05]. The updated LI had low discriminative validity for detecting damage (area under the receiver operating characteristic curve [AUC-ROC] 0.69, 95% CI 0.62-0.75). In 116 repeated MREs, responsiveness was suboptimal for differentiating improved from unchanged disease [AUC-ROC 0.58, 95% CI 0.45-0.71]. Test-retest reliability was high among stable patients [ICC = 0.84, 95% CI 0.72-0.91]., Conclusion: Overall, the updated LI had insufficient psychometric performance for recommending its use in children. An age-specific index may be needed for children with shorter disease duration than typical adult cohorts., (© The Author(s) 2023. Published by Oxford University Press on behalf of European Crohn’s and Colitis Organisation. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Pediatric stroke is considered an infrequent complication of COVID-19. Focal cerebral arteriopathy (FCA) is one of the most common causes of arterial ischemic stroke in a previously healthy child. The present report describes a toddler with FCA most likely induced by SARS-CoV-2 infection who showed significant clinical improvement that may be related to injection of intra-arterial nimodipine. To our knowledge, this is the first reported use of nimodipine in this setting., Competing Interests: Declaration of competing interest All authors have agreed to this final version of the paper being submitted to the journal and that all contributed equally or give details on the differences of contribution and that there are no conflicts or interest or details if there are conflicts of interest., (© 2022 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Objectives: Severe acute respiratory syndrome coronavirus 2, the novel coronavirus responsible for coronavirus disease (COVID-19), has been a major cause of morbidity and mortality worldwide. Gastrointestinal and hepatic manifestations during acute disease have been reported extensively in the literature. Post-COVID-19 cholangiopathy has been increasingly reported in adults. In children, data are sparse. Our aim was to describe pediatric patients who recovered from COVID-19 and later presented with liver injury., Methods: This is a retrospective case series study of pediatric patients with post-COVID-19 liver manifestations. We collected data on demographics, medical history, clinical presentation, laboratory results, imaging, histology, treatment, and outcome., Results: We report 5 pediatric patients who recovered from COVID-19 and later presented with liver injury. Two types of clinical presentation were distinguishable. Two infants aged 3 and 5 months, previously healthy, presented with acute liver failure that rapidly progressed to liver transplantation. Their liver explant showed massive necrosis with cholangiolar proliferation and lymphocytic infiltrate. Three children, 2 aged 8 years and 1 aged 13 years, presented with hepatitis with cholestasis. Two children had a liver biopsy significant for lymphocytic portal and parenchyma inflammation, along with bile duct proliferations. All 3 were started on steroid treatment; liver enzymes improved, and they were weaned successfully from treatment. For all 5 patients, extensive etiology workup for infectious and metabolic etiologies was negative., Conclusions: We report 2 distinct patterns of potentially long COVID-19 liver manifestations in children with common clinical, radiological, and histopathological characteristics after a thorough workup excluded other known etiologies., Competing Interests: The authors report no conflicts of interest., (Copyright © 2022 by European Society for European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)

Background: As part of the prospective multicenter ImageKids study, we aimed to develop and validate the pediatric MRI-based perianal Crohn disease (PEMPAC) index., Methods: Children with Crohn disease with any clinical perianal findings underwent pelvic magnetic resonance imaging at 21 sites globally. The site radiologist and 2 central radiologists provided a radiologist global assessment (RGA) on a 100 mm visual analog scale and scored the items selected by a Delphi group of 35 international radiologists and a review of the literature. Two weighted multivariable statistical models were constructed against the RGA., Results: Eighty children underwent 95 pelvic magnetic resonance imaging scans; 64 were used for derivation and 31 for validation. The following items were included: fistula number, location, length and T2 hyperintensity; abscesses; rectal wall involvement; and fistula branching. The last 2 items had negative beta scores and thus were excluded in a contending basic model. In the validation cohort, the full and the basic models had the same strong correlation with the RGA (r = 0.75; P < 0.01) and with the adult Van Assche index (VAI; r = 0.93 and 0.92; P < 0.001). The correlation of the VAI with the RGA was similar (r = 0.77; P < 0.01). The 2 models and the VAI had a similar ability to differentiate remission from active disease (area under the receiver operating characteristic curve, 0.91-0.94). The PEMPAC index had good responsiveness to change (area under the receiver operating characteristic curve, 0.89; 95% confidence interval, 0.69-1.00)., Conclusions: Using a blended judgmental and mathematical approach, we developed and validated an index for quantifying the severity of perianal disease in children with CD. The adult VAI may also be used with confidence in children., (© 2021 Crohn’s & Colitis Foundation. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Background and Purpose: The fornix-fimbria complex is mainly involved in emotions and memory. In brain MR imaging studies of young children, we have occasionally noted DWI hyperintensity in this region. The significance of this finding remains unclear. This study evaluated the DWI signal in the fornix-fimbria complex of children 0-2 years of age, including the frequency of signal hyperintensity and clinical context., Materials and Methods: Brain MR imaging of 714 children 0-2 years of age (mean, 11 months), performed between September 2018 and May 2021, was reviewed and evaluated for DWI signal changes in the fornix-fimbria. All children with available MR imaging studies including DWI were included. Children with poor image quality, poor visualization of the fornix-fimbria region, and missing medical data were excluded. Additional imaging findings were also evaluated. Demographic data were retrieved from the medical files. We compared the ADC values of the fimbria and fornix between children with and without signal changes. The unpaired 2-tailed Student t test and χ 2 test were used for statistical analysis., Results: DWI signal hyperintensity of the Fornix-fimbria complex was noted in 53 (7.4%) children (mean age, 10 months). Their mean ADC values were significantly lower than those of the children with normal DWI findings ( P  < .05). About half of the children had otherwise normal MR imaging findings. When detected, the most common abnormality was parenchymal volume loss (15%). The most common indication for imaging was seizures (26.5%)., Conclusions: DWI hyperintensity in the fornix-fimbria complex was detected in 7.4% of children 0-2 years of age. The etiology is not entirely clear, possibly reflecting a transient phenomenon., (© 2022 by American Journal of Neuroradiology.)

Pediatric patients are commonly referred to imaging following abnormal ophthalmological examinations. Common indications include papilledema, altered vision, strabismus, nystagmus, anisocoria, proptosis, coloboma, and leukocoria. Magnetic resonance imaging (MRI) of the brain and orbits (with or without contrast material administration) is typically the imaging modality of choice. However, a cranial CT scan is sometimes initially performed, particularly when MRI is not readily available. Familiarity with the various ophthalmological conditions may assist the radiologist in formulating differential diagnoses and proper MRI protocols afterward. Although MRI of the brain and orbits usually suffices, further refinements are sometimes warranted to enable suitable assessment and accurate diagnosis. For example, the assessment of children with sudden onset anisocoria associated with Horner syndrome will require imaging of the entire oculosympathetic pathway, including the brain, orbits, neck, and chest. Dedicated orbital scans should cover the area between the hard palate and approximately 1 cm above the orbits in the axial plane and extend from the lens to the midpons in the coronal plane. Fat-suppressed T2-weighted fast spin echo sequences should enable proper assessment of the globes, optic nerves, and perioptic subarachnoid spaces. Contrast material should be given judiciously, ideally according to clinical circumstances and precontrast scans. In this review, we discuss the major indications for imaging following abnormal ophthalmological examinations., (© 2021 American Society of Neuroimaging.)

Objectives: To examine correlations of the modified Bosniak categories assigned by radiologists to histological results and inter-rater reliability, focusing on intermediate-risk lesions., Materials and Methods: The data of pediatric patients who underwent surgery for intermediate-risk complex renal cyst at a tertiary medical center in 2006-2019 were collected retrospectively. Four pediatric radiologists from 2 different medical centers reviewed the available imaging scans, and assigned each to one of the four modified Bosniak classification categories. Binary cohorts of the Bosniak categories (I-II vs III-IV) were compared to the histological results. Diagnostic accuracy (benign- vs intermediate-risk lesion) was calculated for each radiologist and for each imaging modality. Krippendorff's α test was used to measure inter-rater reliability., Results: The cohort included seven children, each with 1 complex cyst that was rated as intermediate-risk on pathological study. The median age was 1.5 years (IQR 1, 11.9). A correct classification was made in 41/56 imaging readings (sensitivity 73.2%). Applying Krippendorff's test to the binary Bosniak cohorts yielded poor inter-rater agreement (α = 0.08)., Conclusion: Implementation of the modified Bosniak classification in children caused a disconcerting underestimation of intermediate risk. There was a low inter-rater consistency for the categories intended to guide decisions regarding surgery or conservative management. The findings suggest that clinicians should be cautious using the modified Bosniak system for children., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Objective: To assess the association between pediatric Idiopathic intracranial hypertension (IIH) and olfactory performance., Methods: A cross-sectional comparative study was conducted including 17 patients under 18 years diagnosed with IIH at a tertiary hospital and 17 healthy age- and sex-matched subjects. All participants underwent the semi-objective chemosensory Sniffin' Sticks test for evaluation of odor threshold (OT), indicative of peripheral olfactory function, and odor identification (OI), reflecting higher cognitive olfactory processing. Scores were compared and referred to the updated normative values. Demographic, clinical, and neuroimaging data were collected from the medical files. The patients with IIH were reassessed for olfactory function and clinical state at the subsequent follow-up, under treatment., Results: Compared to controls, the IIH group had a significantly lower mean OT score (6.41 ± 3.43 vs 10.21 ± 2.79, p = 0.001) and higher rate of OT score below the 10th percentile for age and sex according to the normative values (47.1% vs 0%, p = 0.001). There was no significant between-group difference in mean OI scores (9.82 ± 1.63, vs 10.59 ± 1.84, p = 0.290). OT scores were not associated with sex, age, body mass index, neuroimaging abnormalities, or lumbar puncture opening pressure. At the follow-up assessment, the OT scores were improved (9.36 ± 4.17 vs 6.7 ± 3.32, p = 0.027) whereas the OI scores were unchanged (9.88 ± 2.5 vs 9.69 ± 1.58, p = 0.432)., Conclusions: As reported in adults, children and adolescents with IIH appear to have a selective reversible deficit in olfactory detection threshold, which may imply a reduction in peripheral olfactory perceptual ability. Future studies should examine the predictive value of olfactory function for IIH., Competing Interests: Declaration of competing interest None., (Copyright © 2020. Published by Elsevier Ltd.)

Acute transverse myelitis is a rare and disabling disorder. Data on the imaging features in children are sparse. The aim of this study was to describe the clinical and magnetic resonance imaging findings characteristic of pediatric idiopathic acute transverse myelitis and to identify those with prognostic value. The database of a tertiary pediatric medical center was retrospectively reviewed for patients aged less than 18 years who were diagnosed in 2002-2017 with acute transverse myelitis that was not associated with recurrence of a demyelinating autoimmune event. Data were collected on clinical, laboratory, and imaging findings and outcome. A total of 23 children (11 male, 12 female) met the study criteria. Mean age at disease onset was 10 years, and mean duration of follow-up was 6 years 10 months. Spinal cord and brain magnetic resonance imaging scans were performed on admission or shortly thereafter. The most common finding was cross-sectional involvement, in 16 patients (70%). The mean number of involved spinal segments was 8. The most frequently involved region was the thoracic spine, in 17 patients (74%). Clinical factors predicting good prognosis were cerebrospinal fluid pleocytosis, absence of tetraparesis, and prolonged time to nadir. In conclusion, most children with acute transverse myelitis appear to have a good outcome. Prompt diagnosis and treatment are important. Further research is needed in a larger sample to evaluate the predictive value of imaging features.

Introduction: Cystic diseases of the lung are a rare spectrum of anomalies, commonly diagnosed prenatally. We present a case of a newborn twin, born at 29 weeks gestational. The infant was diagnosed with respiratory distress syndrome shortly after birth, treated with surfactant by the INSURE method (intubation, surfactant administration, extubation) and required only short-term non-invasive ventilation. On the 40th day of life an extensive single lung cystic disease was identified after respiratory deterioration occurred. The diagnostic approach is presented. The differential diagnosis of neonatal cystic lung disease includes congenital and acquired diseases. The most common cystic lesions presenting in the neonatal period include congenital pulmonary airway malformation (CPAM), pulmonary sequestration, bronchogenic cysts, congenital lobar emphysema and acquired lung damage resulting in cyst formation including pulmonary interstitial emphysema, damage secondary to infection disease. Follow-up showed gradual resolution of the cystic disease, supporting an acquired lung disease. The cystic lung disease may be due to barotrauma from non-invasive ventilation, unequal surfactant distribution, genetic susceptibility to the relatively mild barotrauma associated with non-invasive ventilation or a combination of these factors. The case report demonstrates that procedures considered "safe" such as non-invasive ventilation and surfactant administration may result in extensive lung damage.

In the base excision repair pathway, MYH/MUTYH DNA glycosylase prevents mutations by removing adenine mispaired with 8-oxoG, a frequent oxidative lesion. MYH glycosylase activity is enhanced by Rad9-Rad1-Hus1 (9-1-1) checkpoint clamp and SIRT6 histone/protein deacetylase. Here, we show that MYH, SIRT6, and 9-1-1 are recruited to confined oxidatively damaged regions on telomeres in mammalian cells. Using different knockout cells, we show that SIRT6 responds to damaged telomeres very early, and then recruits MYH and Hus1 following oxidative stress. However, the recruitment of Hus1 to damaged telomeres is partially dependent on SIRT6. The catalytic activities of SIRT6 are not important for SIRT6 response but are essential for MYH recruitment to damaged telomeres. Compared to wild-type MYH, the recruitment of hMYH V315A mutant (defective in both SIRT6 and Hus1 interactions), but not hMYH Q324H mutant (defective in Hus1 interaction only), to damaged telomeres is severely reduced. The formation of MYH/SIRT6/9-1-1 complex is of biological significance as interrupting their interactions can increase cell's sensitivity to H 2 O 2 and/or elevate cellular 8-oxoG levels after H 2 O 2 treatment. Our results establish that SIRT6 acts as an early sensor of BER enzymes and both SIRT6 and 9-1-1 serve critical roles in DNA repair to maintain telomere integrity.

Mucormycosis has emerged as an increasingly important cause of morbidity and mortality in immunocompromised patients, but contemporary data in children are lacking. We conducted a nationwide multicentre study to investigate the characteristics of mucormycosis in children with haematological malignancies. The cohort included 39 children with mucormycosis: 25 of 1136 children (incidence 2·2%) with acute leukaemias prospectively enrolled in a centralized clinical registry in 2004-2017, and an additional 14 children with haematological malignancies identified by retrospective search of the databases of seven paediatric haematology centres. Ninety-two percent of mucormycosis cases occurred in patients with acute leukaemias. Mucormycosis was significantly associated with high-risk acute lymphoblastic leukaemia (OR 3·75; 95% CI 1·51-9·37; P = 0·004) and with increasing age (OR 3·58; 95% CI 1·24-9·77; P = 0·01). Fifteen patients (38%) died of mucormycosis. Rhinocerebral pattern was independently associated with improved 12-week survival (OR 9·43; 95% CI 1·47-60·66; P = 0·02) and relapsed underlying malignancy was associated with increased 12-week mortality (OR 6·42; 95% CI, 1·01-40·94; P = 0·05). In patients receiving frontline therapy for their malignancy (n = 24), one-year cumulative mucormycosis-related mortality was 21 ± 8% and five-year overall survival was 70 ± 8%. This largest paediatric population-based study of mucormycosis demonstrates that children receiving frontline therapy for their haematological malignancy are often salvageable., (© 2019 British Society for Haematology and John Wiley & Sons Ltd.)