Spontaneous intracranial hypotension (SIH) is classified as a decrease in cerebrospinal fluid (CSF) pressure secondary to a CSF leakage and consequent descent of the brain into the foramen magnum. Diagnosing SIH can be difficult due to its overlapping findings with Arnold-Chiari type 1 Malformation (CM1) where the cerebellar tonsils herniate into the foramen magnum. The similarity of both conditions calls for a more reliable imaging technique to localize the CSF leak which could narrow the differential diagnosis and aid in choosing the correct treatment. Here, we present a case of a 28-year-old female, ten weeks post-partum with symptoms similar to SIH. MRI of the brain was remarkable for tonsillar herniation below the foramen magnum. Literature was reviewed for additional neuroradiology techniques that would aid in narrowing our differential diagnosis. Interestingly, computed tomography-, digital subtraction-, and magnetic resonance myelography with intrathecal gadolinium are the preferred techniques for diagnosis of high flow and low flow CSF leaks, respectively. These modalities further aid in choosing the correct treatment while avoiding complications. Literature suggests that treatment for CM1 involves posterior fossa decompression, whereas the mainstay of treatment for SIH involves an epidural blood patch (EBP). Thus, our patient was treated with an EBP and recovered without complication.
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http://dx.doi.org/10.7759/cureus.1034 | DOI Listing |
Sleep Breath
January 2025
McGovern Medical School University of Texas Health, Houston, TX, USA.
Purpose: Children with achondroplasia (ACH) are at risk for sudden death in infancy due to sleep disordered breathing (SDB) and foramen magnum stenosis (FMS). Sleep studies and neuroimaging are performed in infants with ACH, but interpretation of infant studies is challenging. We sought to describe baseline data on polysomnography (PSG) indices in infants with achondroplasia as well as effects of age and surgery on these parameters.
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View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Delaware, 1600 Rockland Road, Wilmington, DE, 19803, USA.
Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia are rhizomelia, macrocephaly, midface hypoplasia, and typical cognition. Potential medical complications include foramen magnum stenosis, hydrocephalus, middle ear dysfunction, obstructive and central sleep apnea, spinal stenosis and genu varum.
View Article and Find Full Text PDFAnimals (Basel)
December 2024
Centro de Estudos de Ciência Animal (CECA), Instituto de Ciências, Tecnologias e Agroambiente da Universidade do Porto (ICETA), Rua D. Manuel II, Apartado 55142, 4051-401 Porto, Portugal.
The aim of this preliminary study was to morphologically and dimensionally characterize the cat's olfactory bulb in the sagittal plane and to establish potential relationships with the cranial conformation, based on the study of in vivo MRI images. Midsagittal and transverse T2-weighted images of the head of 40 cats subjected to MRI were selected. For each animal, the skull index was calculated to classify the cranial conformation.
View Article and Find Full Text PDFCalcif 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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