The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility.

INTRODUCTION: Canavan disease (CD) is a rare autosomal recessive neurodegenerative disorder caused by a deficiency of aspartoacylase A, an enzyme that degrades N-acetylaspartate (NAA). The disease is characterized by progressive white matter degeneration, leading to intellectual disability, seizures, and death. This retrospective study aims to describe the full spectrum of magnetic resonance imaging (MRI) findings in a large case series of CD patients. MATERIALS AND METHODS: MRI findings in 18 patients with confirmed CD were investigated, and the full spectrum of brain abnormalities was compared with the existing literature to provide new insights regarding the brain MRI findings in these patients. All the cases were proven based on genetic study or NAA evaluation in urine or brain. RESULTS: Imaging analysis showed involvement of the deep and subcortical white matter as well as the globus pallidus in all cases, with sparing of the putamen, caudate, and claustrum. The study provides updates on the imaging characteristics of CD and validates some underreported findings such as the involvement of the lateral thalamus with sparing of the pulvinar, involvement of the internal capsules and corpus callosum, and cystic formation during disease progression. CONCLUSION: To our knowledge, this is one of the largest case series of patients with CD which includes a detailed description of the brain MRI findings. The study confirmed many of the previously reported MRI findings but also identified abnormalities that were previously rarely or not described. We speculate that areas of ongoing myelination are particularly vulnerable to changes in CD.

Rare central nervous system manifestation of granulomatosis with polyangiitis in a 12-year-old child: A case report.

To share a unique case of granulomatosis with polyangiitis (GPA) identified in a child with CNS involvement, specifically PRES (posterior reversible encephalopathy syndrome). Discuss this uncommon manifestation's clinical characteristics, diagnostic process, and treatment. We are currently discussing a 12-year-old female patient who presented with a chronic cough, shortness of breath, and a new-onset fever. Upon further examination, the patient was diagnosed with GPA, confirmed through positive cytoplasmic antineutrophil cytoplasmic antibodies (C-ANCA), a renal biopsy, and multiple lung cavitary lesions. During her hospitalization, the patient also experienced neurological symptoms, including a severe headache, blurred vision, loss of consciousness, and an abnormal neurological exam, which led to brain MR imaging. The imaging revealed evidence of small vessel vasculitis with confluent T2 hyper signal intensity of gray-white matter junctions in both parietooccipital and frontal lobes containing hemorrhagic components, suggesting Posterior reversible encephalopathy syndrome. This case of Wegener's granulomatosis is noteworthy due to its occurrence in a pediatric patient with CNS involvement, specifically (posterior reversible encephalopathy syndrome). This event highlights the importance of recognizing that autoimmune disorders can present infrequently in young patients. Diagnosing Wegener's granulomatosis can be challenging, particularly when the CNS is affected. However, when appropriate treatment is initiated promptly, favorable outcomes can be achieved, as evidenced by the patient's improved condition with the prednisolone, captopril, and Rituximab treatment plan. Further research is necessary to understand better the underlying pathophysiology and optimal management of CNS involvement in GPA, particularly in the pediatric population.

Botox injection in treatment of sialorrhea in children with cerebral palsy.

BACKGROUND: The occurrence of sialorrhea (drooling) in children with cerebral palsy is one of the important complications of this disease, which is associated with the impaired quality of life of patients and also the dissatisfaction of their parents. Botox injection in the salivary glands is one of the treatment methods that has recently received special attention in these patients, but there are still many challenges regarding its effectiveness and safety. We aimed to test the effectiveness and safety of botulinum toxin type A in reducing sialorrhea in children with cerebral palsy. METHODS: This semi-experimental before-after study was performed on 12 children who suffering from sialorrhea. The ethics code of this project is IR.MUI.MED.REC.1400.774 and the clinical trial registry code is IRCT20220516054868N1 (https://www.irct.ir/trial/64393). In each of the parotid and submandibular glands, an amount of 0.5 U/kg of botulinum toxin type A was injected by ultrasound guidance under general anesthesia. Before and 6 months after the intervention, the severity and frequency of drooling were tested by Drooling Frequency and Severity Scale. RESULTS: We found a decreasing trend in the severity and frequency scores for drooling within one month; however, after that time, until the end of the 24th week, we saw an increasing trend in the intensity and frequency of this complication. Only two-thirds of parents were satisfied with the therapeutic protocol. Side effects related to botox injection were revealed in 25.0% mostly as dysphagia. CONCLUSION: Botox injection in salivary glands is not a definitive and stable treatment in the treatment of sialorrhea in children with cerebral palsy.

Is CKD Screening Program Necessary in Developing Countries?

INTRODUCTION: The prevalence of congenital anomaly of kidney and urinary tract (CAKUT) and related chronic kidney disease (CKD) may be increased in countries with higher rate of consanguineous marriage. Therefore, we evaluated the prevalence of CKD by biochemical and kidney ultrasound measurements in the firstgrade pupils. METHODS: This cross -sectional study was carried on children aged 6 to 7 years. Urine analysis, serum creatinine, urine microalbumin to creatinine ratio and kidney ultrasound have been evaluated for participants. RESULTS: 653 children were recruited to the study. Stage 1 and stage 2 systolic hypertension have been found in 6.5 and 1%, respectively. The percentage of stage 1 and stage 2 diastolic hypertension were 1.3 and 0.3%, respectively. Both weight Z-score and waist Z-score had positive correlation with systolic and diastolic blood pressure. Microalbuminuria (in 2.5%) did not have any correlation with the following factors: hypertension, body mass index, microscopic hematuria, glomerular filtration rate, kidney sonographic abnormalities or kidney parenchymal thickness and family history of kidney transplantation. GFR less than 90 mL/ min /1.73 m2 has been detected in 1.8% of the students. Only 1.7% had urine RBC more than 5 in each high-power field (hpf). Approximately 1.5% had anatomical abnormality of kidney and urinary tract (hydronephrosis or hydroureter). CONCLUSION: Considering the higher prevalence of elevated blood pressure and microalbuminuria in Iranian children, a CKD screening program based on evaluating microalbuminuria and blood pressure measurement is needed. However, irrespective of high prevalence of consanguineous marriage in Iran, using kidney ultrasound as a screening tool has not been recommended.  DOI: 10.52547/ijkd.7306.

Diagnostic Accuracy of Multiple MRI Parameters in Dealing with Incidental Thyroid Nodules.

Background: Different MRI parameters have been studied for evaluating thyroid nodules. Diffusion-weighted imaging (DWI) and T2 imaging sequences with considerable efficacy in evaluating soft tissue tumors merit further assessment for thyroid nodule investigation. Method: We evaluated incidental thyroid nodules (ITNs) reported on head and neck MRI studies. The T2 signal intensity (SI), T2 signal intensity ratio (SIR), Z value, and apparent diffusion coefficient (ADC) values of the thyroid nodule were obtained for every patient. The patients were referred to the radiology department for the thyroid nodule ultrasound study. Finally, 33 participants (37 thyroid nodules) who were scheduled for fine needle aspiration and cytology (FNAC) were enrolled. Regarding the FNAC results, the nodules were divided into malignant and benign groups. The two groups' MRI parameters were compared using a two samples independent t test, and the cutoff values were estimated by analyzing the receiver operating characteristics plot. Results: The T2 signal intensities, SIR, Z values, and ADC values were significantly higher in the benign group than malignant. The cutoff points of 230 (AUC = 0.759), 3.38 (AUC = 0.754), 37 (AUC = 0.759), and 1.73 (AUC = .690) were obtained for T2 values, SIR, Z values, and ADC values, respectively. Conclusion: T2, SIR, Z, and ADC values are reliable for discriminating benign from malignant ITNs. However, further studies with a larger sample size are needed to provide more accurate mean values, identify outliers, and reduce confounding factors and bias.