Chiari type I malformation (CMI) is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache, vertigo, syncope and hepatic steatosis. We hypothesize that these symptoms are primarily a consequence of Chiari type I malformation.
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http://dx.doi.org/10.4081/pr.2010.e8 | DOI Listing |
Am J Transl Res
December 2024
Department of Orthopaedics, Beilun District People's Hospital, Beilun Branch of The First Affiliated Hospital, Zhejiang University Ningbo, Zhejiang, China.
The pathogenesis of type I Chiari malformation (CIM) is complex and remains unclear. The theory of posterior cranial fossa incompatibility has gained widespread acceptance in recent years. In the patients with CIM combined with syringomyelia, scoliosis is a common occurrence, with severe cases often leading to complications that necessitate surgical intervention.
View Article and Find Full Text PDFMed Sci Monit
January 2025
Department of Neurosurgery, Istanbul Training and Research Hospital, Istanbul, Turkey.
BACKGROUND Chiari malformation type 1 occurs when the cerebellar tonsils are pushed into the spinal canal, which can result in syringomyelia. This retrospective study from a single center evaluated outcomes in 89 patients with Chiari malformation type-I (CM-I) and syringomyelia treated with an arachnoid-preserving technique between 2016 and 2023. MATERIAL AND METHODS A retrospective analysis was conducted at a tertiary referral center, involving 88 adult patients and 1 adolescent patient aged 14 to 61 years, with diagnosis by MRI and treated for CM-I with syringomyelia between 2016 and 2023, using the arachnoid-preserving technique.
View Article and Find Full Text PDFChilds Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
Pol J Radiol
November 2024
Department of Radiology, Istanbul Medeniyet University, Istanbul, Turkey.
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.
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