Profound Biotinidase Deficiency as a Treatable Cause of Pediatric Diffuse Leukoencephalopathy and Diffusion Restriction [0.03%]
Soumya Jyoti Raha,Arushi Gahlot Saini,Savita Verma Attri et al.
Soumya Jyoti Raha et al.
BackgroundBiotinidase deficiency (BTD) is a rare, autosomal-recessive neurometabolic disorder due to biallelic pathogenic variants in the BTD gene. Diffuse leukoencephalopathy with diffusion restriction on neuroimaging is a rare but reversi...
Efficacy of Solifenacin Combined with Biofeedback in Children with Neurogenic Detrusor Overactivity Caused by Primary Tethered Cord Syndrome [0.03%]
Dan Liu,Hui Zhang
Dan Liu
PurposeNeurogenic detrusor overactivity (NDO) can lead to elevated bladder pressure and pose significant risks to the upper urinary tract. This study aimed to evaluate the efficacy of combining solifenacin with biofeedback in treating pedia...
The Role of Neuroimaging in Diagnosing Pediatric Headaches: Insights From a Large Cohort Study [0.03%]
Canan Üstün,Elif Perihan Öncel,Deniz Menderes et al.
Canan Üstün et al.
ObjectiveThis study evaluates neuroimaging findings in pediatric headache patients and identifies clinical predictors for imaging necessity.MethodsA retrospective analysis was performed on 1008 children aged 3-17 years presenting with heada...
Maria Tozzo Pesco,Jun Xie,Eleonora Silvana D&#x;Ambrosio
Maria Tozzo Pesco
Alexander disease (ALEXD; MIM 203450) is a rare leukodystrophy caused by dominant mutations in the GFAP (Glial Fibrillary Acidic Protein) gene, which encodes a key structural protein of astrocytes. First described in 1949, ALEXD is now reco...
Eylul Aydin,Aybike S Bulut,Berkay Yildiz et al.
Eylul Aydin et al.
Periodic reanalysis of genomic data plays a pivotal role in refining variant interpretation and resolving previously undiagnosed cases, particularly in the context of rare diseases. We report a female patient presenting with global developm...
Zahraa Nima,Amalie Berring-Uldum,Nanette Mol Debes
Zahraa Nima
BackgroundHeadache is the most common neurologic symptom among children and adolescents, with a point prevalence of 58%. Headache disorders, particularly migraine, are considered one of the most disabling conditions in childhood. Headaches ...
Thalamic Responsive Neurostimulation After Anatomic Hemispherectomy With Direct Targeting [0.03%]
直接定位下丘脑反应性神经刺激仪在解剖学半球切除术后的应用
Amanda N Stanton,Mallory Dacus,Dario J Englot et al.
Amanda N Stanton et al.
Nearly one-third of patients with epilepsy are unable to achieve adequate seizure control with medication alone. Responsive neurostimulation (RNS) of thalamic nuclei is a relatively new option for the treatment of drug-resistant epilepsy (D...
MECP2-Associated Rett Syndrome Without Developmental Regression-A Case Series [0.03%]
与发育退化无关的雷特氏综合征相关MECP2异常的一组病例
Alexandra Morgan,Alice Pham,Sydni Beeley et al.
Alexandra Morgan et al.
Clinical phenotype expansion of neurodevelopmental disorders is increasingly important. With accessibility and diagnostic ability of genetic testing expanding, new clinical criteria will continue to be elucidated. Here we describe a case se...
A Wolf in Metabolic Clothing: Familial HLH Mimicking a Neurometabolic Disorder [0.03%]
狼穿上代谢的外衣：家族性噬血细胞综合征伪装成神经代谢性疾病
Shubham Raj,Sanjhi Paliwal,Aniket Chhapariya et al.
Shubham Raj et al.
Mahesh Kamate,Gayatri Pawar,Virupaxi Hattiholi
Mahesh Kamate
BackgroundMumps is a highly neurotropic virus causing a wide variety of neurologic complications. Post-/para-infectious basal ganglia encephalitis is one of its rare complications, with higher morbidity compared with other complications.Cas...