Chiari malformation type 1 (CMI) usually presents with cervical pain and suboccipital headache, among other symptoms. Patients with CMI describe symptoms that are clearly correlated with CMI for an average of 3.1 years before diagnosis. We present a case of a patient with bilateral papilledema and CMI but with no long-standing CMI symptoms. She was initially diagnosed with a concussion but developed unremitting intense occipital headaches 4 days later which prompted an evaluation for an alternative diagnosis. Treatment of this case was ventriculoperitoneal shunting, which may serve as an alternative to posterior fossa decompression under certain circumstances.
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http://dx.doi.org/10.4103/ajns.AJNS_33_19 | DOI Listing |
Prenat Diagn
January 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Objective: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.
Methods: A 32-year-old G4P2011 patient was referred at 18w5d gestation for suspected fetal encephalocele. Serial imaging, including ultrasound and MRI, was performed to evaluate fetal anomalies.
Prenat Diagn
January 2025
Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.
Objective: To apply a network medicine-based approach to analyze the phenome of the prenatal fetal MRI and biometric findings in the Chiari II malformation (CM II) to detect specific patterns and co-occurrences.
Method: A single-center retrospective review of fetal MRI scans obtained in fetuses with CM II was performed. Co-occurrence analysis was utilized to generate a phenotypic comorbidity matrix and visualized by Gephi software.
Calcif Tissue Int
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFNeurosurg Focus
January 2025
18Department of Neurosurgery, Washington University School of Medicine, St. Louis, Missouri.
Objective: Patients with a history of surgery for single-suture craniosynostosis (SSC) as an infant often wish to participate in sports later in childhood. However, there are no established guidelines from neurosurgeons and craniofacial surgeons to guide parents in which sports their child should or should not participate. Therefore, this study aimed to evaluate the attitudes and practice patterns of experienced neurosurgeons and craniofacial surgeons regarding the counseling of caregivers of these patients about sports participation.
View Article and Find Full Text PDFWorld Neurosurg
December 2024
Department of Plastic Surgery, Beilun Branch of the First Affiliated Hospital, College of Medicine, Zhejiang University, Ningbo, Zhejiang, China; Department of Surgical Oncology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China. Electronic address:
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