The corpus callosum (CC) is central to neurodevelopment, and morphometric abnormalities are linked to atypical development. This study aimed to establish age-dependent and age-independent MRI-based cutoffs defining normative CC morphology in children aged 1–6 years, distinguishing typically developing children from those with cerebral palsy (CP). This retrospective analysis included 116 children (58 with CP, 58 age-matched controls) who underwent brain MRI. Seven CC parameters were measured: thickness of the genu, body, splenium, and isthmus, plus overall CC area and fronto-occipital length (FOL). Receiver Operating Characteristic (ROC) analyses identified optimal age-dependent and age-independent cutoffs. The two groups were well matched for age (3.45 ± 1.55 vs. 3.36 ± 1.43 years; P = 0.736) and sex (46.6
Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders characterized by early-onset seizures, developmental impairment, and heterogeneous neurological features. We retrospectively analyzed 37 children meeting strict DEE criteria from the Iranian Neurodegenerative and Leukodystrophy Registry (2016-2024), focusing on movement disorders and white matter (WM) abnormalities. Seizure onset occurred within the first year in 81% (30/37). Movement disorders were observed in 24.3% (9/37), including dystonia, myoclonus, ataxia, chorea, tremor, and oculomotor apraxia, with patterns observed across different genetic etiologies. WM abnormalities were present in 43.2% (16/37), predominantly demyelinating, with gene-associated imaging patterns observed in metabolic/lysosomal genes (CLN6, MFSD8, ITPA) and in variants involving TNK2, SLC13A5, and PIGU. Pathogenic or likely pathogenic variants were identified in 78.4% (29/37), including 18 novel variants across 23 genes, with predominance of loss-of-function variants (72.4%). Within the limitations of this cohort, recognition of combined movement and WM features may support improved diagnostic evaluation and prioritization of genetic testing, particularly in settings with variable EEG findings. These observations warrant validation in larger cohorts to further clarify genotype-phenotype relationships in DEEs.
Peroxisomal disorders comprise a heterogeneous group of inherited metabolic diseases including peroxisome biogenesis disorders (PBDs), single-enzyme defects, and peroxisomal dynamics disorders. Data from Middle Eastern populations remain limited despite high regional consanguinity rates. We aimed to characterize the clinical, genetic, and neuroimaging spectrum of peroxisomal disorders in a multicenter Iranian cohort. We performed a retrospective multicenter study of genetically confirmed pediatric peroxisomal disorders diagnosed between 2016 and 2023 across five referral centers. Clinical, neuroimaging, and molecular data were systematically reviewed. Patients were classified as PBDs or non-PBD peroxisomal disorders, while non-classical peroxisome-associated phenotypes were analyzed separately. A pragmatic retrospective severity index was applied to assess disease burden. Forty-two patients from 42 families with peroxisomal gene-associated disorders were identified, including 40 patients in the primary analysis cohort. PBDs accounted for 33 patients and non-PBD peroxisomal disorders for seven. PEX1 was the most frequently affected gene. Novel variants accounted for 67
Stem cell therapies have shown promise in cerebral palsy (CP). However, their effects on brain metabolites, measured by proton magnetic resonance spectroscopy (1HMRS), remain unexplored. In this randomized clinical trial, we evaluated 1HMRS measures (N-acetyl aspartate [NAA], choline [Cho], creatine [Cr], myo-inositol [mI], NAA/Cho, and NAA/Cr) within periventricular white matter (PVWM) in children with CP at baseline and 12 months after a single intrathecal injection of umbilical cord-mesenchymal stem cells (UC-MSCs:20 × 106) or umbilical cord blood-mononuclear cells (UCB-MNCs:5 × 106/kg). Generalized Estimating Equations (GEEs) were employed to assess treatment efficacy, the adjusted effects of sex, CP type, and gestational age (GA) on post-treatment findings, and the association between metabolites and gross motor function measure (GMFM-66). Seventy-three participants were included: UCB-MNC (n = 27), UC-MSC (n = 26), and sham (n = 20). Primary analyses indicated no significant time*treatment interaction effects for any of the metabolites. In exploratory analyses, a significant CP type*treatment interaction was found for the post-intervention NAA/Cho (UC-MSC vs. sham; P-value = 0.02). Significant GA status*treatment interactions were also observed for post-intervention Cho (UC-MSC vs. sham; P-value = 0.009) and post-intervention mI (UCB-MNC vs. sham; P-value = 0.03). Additionally, longitudinal increases in NAA/Cr and NAA/Cho were positively associated with GMFM-66 improvement during the follow-up in UCB-MNC and UC-MSC groups, respectively, whereas Cho*time interaction was linked to smaller functional gains in the UCB-MNC group over time. Neither UC-MSC nor UCB-MNC had a significant overall effect on measured metabolite concentrations/ratios within the PVWM at 12 months following a single injection. Exploratory findings should be interpreted cautiously.Trial registration: The trial was registered in both the Iranian Registry of Clinical Trials (IRCT201706176907N13; registered on 12/07/2017) and ClinicalTrials.gov (NCT03795974; registered on 08/01/2019).
Introduction Neurological manifestations are rare in hyperlipidemia; however, extreme hypertriglyceridemia may cause "milky" blood and cerebrospinal fluid (CSF) and may compromise the central nervous system. We report an infant with familial hyperlipidemia who presented with seizures and unusual neuroimaging findings, including fat deposition in the cerebral vasculature and intracranial xanthomas. Case description A 2-month-old boy, previously healthy, presented with fever, followed by a focal seizure. His parents are consanguineous. His perinatal history and early development are unremarkable. Physical examination revealed no abnormal findings. During phlebotomy, the blood appeared lipemic with a distinctive 'salmon-colored' hue. Laboratory work-up revealed severe hypertriglyceridemia with normal pancreatic enzymes; other metabolic, hematologic, and infectious evaluations were unremarkable. Non-contrast brain CT and MRI showed fat within the dural venous sinuses and cortical veins, along with two extra-axial, fat-containing intracranial lesions in the left parietal and right frontal regions. The patient was treated with anticonvulsant medications, antiplatelet therapy, and a specialized low-fat formula, resulting in significant improvement in lipid levels and clinical stabilization. Discussion In severe hypertriglyceridemia causing visible lipemia of blood, blood viscosity increases and perfusion in the microcirculation can be impaired. Hyperviscosity and the toxic effect of lipid particles on the endothelium may lead to vascular injury in the brain. Accumulation of lipid in intracranial blood vessels can extravasate through the injured blood-brain barrier to CSF and brain parenchyma. Intracranial xanthoma, parenchymal hemorrhage and infarction are considered as the complications. Conclusions In infants presenting with seizures or stroke-like signs alongside lipemic blood, clinicians should consider hyperlipidemia-induced neurovascular injury. Neuroimaging signs such as fat-density vessels or lesions should prompt an evaluation for dyslipidemia.
ABSTRACT Background RASGRP1 deficiency is a rare inborn error of immunity characterized by immunodeficiency, autoimmunity, and lymphoproliferation. Results We report a 5‐year‐old male with novel homozygous splice‐donor mutations in RASGRP1(c.1720+1G>A and c.1720+2T>C) who presented with severe vasculopathy (ischemic stroke and thrombosis), secondary antiphospholipid syndrome, and fatal refractory autoimmune hemolytic anemia. Conclusion A review of 14 previously reported cases (plus current case) confirms that while infections (100%) and lymphoproliferation (87%) are common, vascular autoimmunity is an emerging life‐threatening phenotype. Hematopoietic stem cell transplantation remains the only curative therapy, as conservative management carries high mortality. Early genetic diagnosis is essential for optimal management. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission
Brucellosis is the most prevalent bacterial zoonosis worldwide. While neurobrucellosis occurs in 5–7
BACKGROUND:Bartter syndrome (BS) is a salt-losing renal tubulopathy classically characterised by hypokalaemic metabolic alkalosis and hyperreninaemic hyperaldosteronism. METHODS:We investigated the genetic cause of a Bartter-like phenotype in an adolescent patient with progressive nephrocalcinosis, hypercalciuria, polyuria, metabolic alkalosis, hypokalaemia, significantly elevated urine chloride, failure to thrive, and a salt-losing tubulopathy. Additionally, the patient presented with hypergammaglobulinaemia, abnormal cerebral white matter signal changes, skin autoinflammation, and mild intellectual disability. RESULTS:No pathogenic variants were detected in known BS-related genes, and all recessive BS genes were outside regions of homozygosity (ROH) in this patient from a consanguineous family. Instead, exome sequencing and homozygosity mapping identified a homozygous splicing variant, c.2702-2A>G, in the epidermal growth factor receptor (EGFR) gene within an ~28 Mb ROH on chromosome 7p. RNA-Seq and RT-PCR analysis of the patient's RNA confirmed the pathogenicity of this variant, demonstrating aberrant splicing resulting in an in-frame retention of 27 nucleotides from intron 22 of EGFR. Immunofluorescence analysis of the proband's skin revealed a reduced EGFR protein level, rather than a complete absence, supporting a hypomorphic effect and likely explaining compatibility with survival into adolescence. Whereas previously reported EGFR variants have been associated with severe neonatal epithelial inflammation, bowel disease, and early mortality, our findings demonstrate that a hypomorphic variant can be compatible with survival into the second decade of life. CONCLUSION:These findings support an association between a syndromic Bartter-like salt-losing tubulopathy with epithelial autoinflammation and a homozygous splice-altering EGFR pathogenic variant, thereby expanding the phenotypic spectrum of EGFR-associated disorders.
Objective: This study aimed to assess the safety and efficacy of tissue Plasminogen Activator (tPA) in patients with COVID-19-induced severe Acute Respiratory Distress Syndrome (ARDS). Methods: The intervention group consisted of eligible patients with severe ARDS due to COVID-19 admitted to the Intensive Care Unit (ICU) of a university hospital. We selected the control group from admitted patients treated in the same ICU within the same period. The intervention group received intravenous tPA as 10 mg stat, 40 mg over the first 2 hours, and 25-50 mg over the next 10 hours, followed by a therapeutic dose of enoxaparin. The control group only received the therapeutic dose of enoxaparin. The main outcomes were the rise of SpO2 within 24 hours of tPA administration, critical bleeding during tPA administration, 28-day in-hospital mortality following admission to the ICU, and length of stay in the ICU. Results: We analyzed two sets of 15 patients in the intervention (mean age: 45 years, 69% male) and the control (mean age: 50 years, 50% male) groups. There was rapid relief of dyspnea and SpO2 rising within 24 hours in seven cases (45%) only in the intervention group with no significant organ-threatening bleeding. Death was observed in 5 of the tPA-treated patients (33.3%) versus 10 (66.7%) of the controls [adjusted OR (95%CI): 0.17 (0.03, 0.98), P value =0.068]. Conclusion: The administration of intravenous tPA as 10mg stat, 40 mg during 2 hours, and 50mg during the next 10 hours is safe, can cause a rapid relief of dyspnea, and be lifesaving
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare, nonhereditary, nonprogressive congenital neurocutaneous syndrome with underlying ectodermal dysgenesis. The classic triad of this syndrome is central nervous system (CNS), ocular, and cutaneous involvement as unilateral lipomatous lesions of the scalp, neck, and face with ipsilateral brain anomalies and ipsilateral ocular choristoma. Herein, this study reports a case of a 2-year-old boy presented with status epilepticus for the first time. Intraspinal lipoma, arachnoid cyst, cerebral hemiatrophy, asymmetric hydrocephaly, choristoma, and corneal clouding were noted. This case fulfilled Moog's clinical criteria for diagnosis of Haberland syndrome. Additionally, this study introduces linear and whorled nevoid hypermelanosis and cerebral periventricular white matter hyperintensity as novel manifestations of this syndrome.
A critical clinical consideration, in addition to other common risk factors predisposing individuals to idiopathic intracranial hypertension (IIH), involves the potential co-occurrence of increased intracranial pressure and elevated cerebrospinal fluid protein levels in the presence of underlying malignancies. Primary diffuse leptomeningeal melanomatosis, an exceptionally rare condition with few reported cases in the pediatric population, illustrates this scenario. Timely decision-making based on clinical suspicion to perform a biopsy and involving a skilled pathologist for accurate reporting are essential steps toward achieving a definitive diagnosis.
COVID-19 has emerged as a global pandemic affecting individuals of all ages. The disease can lead to severe complications and even death, particularly due to pulmonary involvement. Contrary to popular belief, children can also experience significant complications from COVID-19. To date, there have been limited studies focusing on pulmonary manifestations in pediatric patients with COVID-19. This study aims to investigate the imaging patterns (CT scans) in children diagnosed with COVID-19 in Iran. This retrospective study analyzed data from hospitalized children with COVID-19 in Tehran from March 2020 to September 2020. Information collected included demographic details (sex and age), previous medical history, clinical manifestations, vital signs at admission, laboratory findings, and imaging results, including CT scan and chest x-ray. 252 patients were included, with a mean age of 71.2 ± 59.42 months; 58.3% were male. Fever was the most prevalent symptom, occurring in 67.4% of cases. The most common underlying condition was oncological disorders, present in 85% of patients. Notably, 52% required admission to the ICU, and 1.8% needed intubation. CT scans revealed that the most frequent lung involvement patterns were mixed patterns and consolidation, with bilateral involvement being the most common. The mean CT score was calculated at 3 ± 4. Abnormal CT findings were associated with a poorer prognosis, and correlations were observed between specific CT findings and clinical manifestations. Chest CT manifestations offer valuable insights for assessing pediatric patients with COVID-19, especially in severe cases and those with pre-existing health conditions. Integrating clinical evaluations with radiological scoring systems facilitates early identification of disease severity.
The scoring system in high-resolution computed tomography (HRCT) is used to express the total abnormalities in multiple slices of a single CT. Bhalla scoring was described in 1991. In this study, we investigate the relationship between Bhalla score derived from HRCT and pulmonary function test in children with cystic fibrosis (CF). This study was a cross-sectional analysis of children referred to the CF outpatient clinic at Children’s Medical Center Hospital from September 2017 to September 2018. The data evaluated included Bhalla score, spirometry, and throat or sputum culture. The following correlations versus Bhalla score derived from HRCT were found: FEV1 (r = 0.630, p < 0.001), FVC(r = 0.462, p < 0.001), FEF25-75
Background: Dextrocardia is an intrinsic cardiac malposition where the base-apex axis is oriented toward the right side. Diagnosing these abnormalities is crucial for the appropriate treatment of associated anomalies. Advances in CT angiography techniques have enabled a comprehensive study of cardiovascular structures. Objectives: This study aims to identify the association of cardiac anomalies in various types of dextrocardia. Methods: Patients with a confirmed diagnosis of dextrocardia who underwent contrast-enhanced cardiac CT angiography were included in the study. All patients had previously undergone echocardiography with equivocal findings. The type of dextrocardia (based on the Arcilla and Gasul classification), along with septal, atrial, ventricular, aortic, pulmonary artery and vein, systemic veins, and non-cardiac anomalies, were evaluated. Results: Thirty-five cases of dextrocardia (18 males and 17 females) were included in this study, with a mean patient age of 24 months. Among these, 23 cases were classified as type 3, 8 as type 1, and 4 as type 2. The most common anomalies across all types were septal defects, with ventricular septal defects being the most prevalent in type 1, while atrioventricular septal defects (AVSD) were the most common in types 2 and 3. In type 3, left transposition of the great arteries (L-TGA), right isomerism, and AVSD were significantly more frequent, occurring concurrently in 65.2% of patients. Additionally, more than 50% of the cases had a concomitant pulmonary artery anomaly. Conclusions: A correlation may exist between the occurrence of AVSD, L-TGA, right isomerism, and pulmonary artery anomalies in type 3 dextrocardia.
Background: It is crucial to determine the normal Portal Vein Diameter (PVD) in different populations, and ages since changes in the size of the vein are used as an index in the diagnosis of some diseases. Therefore, it is important to determine its normal size. In this regard, the present study aimed to investigate the PVD and Peak Systolic Velocity (PSV) in healthy Iranian children. Methods: The present descriptive-analytical study examined 250 healthy Iranian children who visited the Imaging Center of the Children Medical Center of Excellence. The PVD and PSV were examined by a radiologist using a Doppler ultrasound. Children were classified intofive age groups: under one month, 1 month to 2 years, 2 to 6 years, 6 to 10 years, and 10 to 18 years, and the above-mentioned indices were measured and compared in them. Statistical analysis was conducted using SPSS 26 employing the Results: In children under one month, one month to 2 years, 2-6 years, 6-10 years, and 10-18 years of age, the mean values of PVD were 4.08, 5.64, 6.14, 7.50, and 8.32 mm, and the mean PSV values were 19.26, 22.20, 21.68, 22.86, and 21.48, respectively. The mean PVD and PSV increased with increasing age; however, no statistically significant difference was found between the mean values of the indices Conclusions: The PVD and PSV in healthy Iranian children were relatively similar to their non-Iranian counterparts, and the mean values increased with age. Additionally, no significant difference was found between the mean values of PVD and PSV in boys and girls based on gender.
Introduction: Pseudo-TORCH syndrome, named as such due to the mimicry of intrauterine TORCH infections in the absence of infection, is a neurological disorder presenting primarily with congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, and severe developmental delay, which can be attributed to variants in the OCLN gene. MCC2 deficiency, a neurometabolic disorder due to impairments in the catabolism of Leucine, with highly variable clinical presentations in addition to landmark metabolic features is put down to variants in MCCC2 gene. Case Presentation: Known as independent conditions, the intriguing presence of dual manifestations in a 3.5-year-old boy was investigated in the study. The patient was referred to our Myelin Disorders Clinic due to congenital microcephaly, developmental regression, and medication-resistant epilepsy. WES was performed on patient’s samples for variant detection and subsequent confirmation. Bioinformatics analysis was performed for prioritization and validation according to the standard criteria. The resultant findings were consequently confirmed in the proband and his parents by Sanger sequencing. WES revealed the presence of two concurrent variants in OCLN and MCCC2 on the same chromosome, chromosome 5, both in homozygous state in the proband. Both variants are classified as pathogenic according to ACMG classification system having been previously reported in the literature. Conclusion: The two variants observed in our patient, a homozygous missense change and a homozygous deletion interestingly occurring on the same chromosome, lead us to think that either these two conditions may be totally independent of each other, having co-occurred by chance, or there may be an underlying association between the two variants, rendering their co-occurrence as a haplotype more possible.
Abstract Background Transforaminal endoscopic lumbar diskectomy (TELD) is considered an effective treatment for lumbar disk herniation (LDH). There is a paucity of studies comparing in detail the costs and long-term clinical outcomes of TELD and open microdiskectomy (MD), especially in developing countries. Thus, we sought to provide a multidimensional insight into this matter by comparing the direct costs and long-term outcomes of TELD with those of MD. Methods The electronic health records of 434 patients with LDH who underwent either TELD or MD were collected from February 2011 to October 2014. Within a 7-year follow-up period, 412 patients, comprising 203 patients treated with TELD and 209 patients treated with MD, were fully evaluated. Patient characteristics, operative time, intraoperative blood loss (IBL), postoperative hospital stay, time to return to work (RTW), perioperative complications, and direct costs were collected. Clinical outcomes were assessed using the Visual Analog Scale (VAS), Oswestry Disability Index (ODI), and modified MacNab criteria. Results The postoperative ODI and VAS scores improved significantly in both groups ( p < 0.001). In accordance with the modified MacNab criteria, the rate of excellent and good outcomes was 88.67 and 88.03% in the TELD and MD groups, respectively. There were no significant differences between the groups in the clinical outcomes and perioperative complications. However, IBL, hospital stay, and RTW were significantly reduced in the TELD group ( p < 0.05). Twenty-one cases in the TELD group and nine in the MD group underwent reoperation due to recurrence ( p < 0.05). Total inpatient cost per patient was $1,596 in the TELD group and $1,990 in the MD group ( p < 0.05). Conclusion TELD for the treatment of symptomatic LDH could be an affordable strategy, providing certain advantages of minimally invasive procedures such as shorter hospital stay and earlier recovery along with comparable clinical outcomes to the conventional surgical method.
BACKGROUND:Differentiating ulcerative colitis-associated "backwash" ileitis (BWI) from Crohn's terminal ileitis (CTI) is a diagnostic challenge and highly affects patient's management. This study aimed to investigate magnetic resonance enterography (MRE) features including ileocecal valve patency index (ICPI) in patients with BWI and CTI and distinguish these entities based on MRE findings.METHODS:After obtaining institutional review board approval, we reviewed 1654 MREs; 60 patients with pathologically proven BWI (n = 30) and CTI (n = 30) were enrolled. Two radiologists who were blinded to the clinical diagnosis analyzed MREs. We evaluated bowel wall thickness and enhancement pattern, ileocecal valve (ICV) diameter, and lip thickness. Ileocecal valve patency index-T and ICPI-C were calculated to normalize the ICV diameter with respect to terminal ileum (TI) and cecum, respectively. An additional group of non-BWI-UC patients (n = 30) was also included to validate indices.RESULTS:Circumferential mural thickening (90% vs 1%, P < .001) and inner-wall enhancement (P < .001) of TI were more frequent in BWI patients than CTI. Serosal irregularity (53% vs 13%, P = .002), higher mural thickness (5mm vs 3mm, P < .001), and asymmetric hyperenhancement (P < .001) of TI were more prevalent in CTI than BWI. Ileocecal valve patency and lip atrophy were significantly higher in BWI than CTI and non-BWI-UC groups (both P < .001). Ileocecal valve patency indices-C and ICPI-T indices were able to accurately distinguish BWI from CTI (area under the ROC curve [AUC], 0.864 and 0.847 for ICPI-T and ICPI-C, respectively) and non-BWI-UC (AUC, 0.777 and 0.791 for ICPI-T and ICPI-C, respectively). Ileocecal valve patency indices-T ≥31.5% were 100% specific to distinguish BWI from CTI, but sensitivity was 63%.CONCLUSIONS:Magnetic resonance enterography features of ICV and TI can accurately differentiate BWI from CTI. Two practical indices introduced in this study showed high specificity to distinguish BWI from CTI.
Background: NARS2 encodes mitochondrial Asparaginyl-tRNA Synthetase 2, which catalyzes the aminoacylation of tRNA-Asn in the mitochondria. To date, 24 variants have been reported in NARS2 gene in 35 patients. The phenotypic variability of NARS2-associated disorder is broad, ranging from neurodevelopmental disorders to hearing loss. In this study, we report some novel imaging findings in an Iranian patient suffering from epileptic encephalopathy, caused by a previously reported variant, c.500A > G; p.(His167Arg), in NARS2. Methods: The spectrum of clinical manifestations of two Iranian patients was investigated and genetic analysis was performed by Whole-exome sequencing (WES). Additionally, we also reviewed the literature and summarized the phenotypes of previously reported patients with variants in the NARS2 gene. Results: Here, we present the phenotypic and genetic features of 2 unrelated Iranian infants presented with neurodevelopmental delay, seizures, hearing impairment, feeding problems, elevated serum lactate levels in addition to subdural hematoma and cerebral parenchymal hemorrhage in the brain magnetic resonance imaging (MRI) of one of the patients. Genetic analysis revealed a biallelic missense variant in NARS2: c.500A > G; p.(His167Arg). We described the subdural hematoma and cerebral parenchymal hemorrhage of the brain for the first time. Conclusions: Our study provides new clinical findings, subdural hematoma, and parenchymal hemorrhage, in NARS2-related disorders. Our findings along with previous studies provide more evidence of the clinical presentation of the disease caused by pathogenic variants in NARS2. Expanding the clinical spectrum increases the diagnostic rate of molecular testing and improves the quality of counseling for at-risk couples.
Background: There is anecdotal evidence regarding the simultaneous occurrence of vesicoureteral reflux (VUR) and gastroe-sophageal reflux disease (GERD), which indicates the probability of pathophysiological commonality.Objectives: In the present study, we evaluated the concurrence of VUR and GERD in children candidates for the voiding cys-tourethrogram (VCUG) study.Methods: This cross-sectional study was conducted on 62 children between 1 and 14 years old referred to a tertiary referral teaching hospital for VCUG in 2019 -2020. All subjects underwent ultrasound to assess GERD and VCUG to rule out VUR.Results: According to the ultrasound assessment, 14.5% of subjects were diagnosed with GERD: 8.3% in males and 18.4% in females. VUR was detected in 48.4% of children (50.0% in males and 47.4% in females) using VCUG. Overall, seven (23.3%) had concomitant VUR and GERD: 4.2% in boys and 15.8% in girls, indicating no difference between the two genders (P = 0.125). The prevalence of concurrent GERD and VUR was also independent of age. In the two groups with and without VUR, the prevalence of GERD was 23.3% and 6.2%, respectively, indicating a relative risk of 2 (95% confidence interval [CI]: 1.32 -3.02, P = 0.001).Conclusions: Regarding the relationship between GERD and VUR, despite the deletion of physiologic GER cases, the pathophysio-logical overlap between the two phenomena could be considered.