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Neurologic Clinics May 2022Chiari Malformation Type I (CMI) is a congenital malformation diagnosed by MRI findings of at least 5 mm of cerebellar ectopy below the foramen magnum. CM1 is... (Review)
Review
Chiari Malformation Type I (CMI) is a congenital malformation diagnosed by MRI findings of at least 5 mm of cerebellar ectopy below the foramen magnum. CM1 is frequently associated with syringomyelia. Herein, we discuss the history of CMI and syringomyelia, including early pathological and surgical studies. We also describe recent investigations into the pathogenesis and pathophysiology of CMI and their practical implications on management and surgical intervention. We also highlight the recent development of the Common Data Elements for CMI, providing a framework for ongoing investigations. Finally, we discuss current controversies of surgical management in CMI.
Topics: Arnold-Chiari Malformation; Foramen Magnum; Humans; Magnetic Resonance Imaging; Syringomyelia
PubMed: 35465876
DOI: 10.1016/j.ncl.2021.11.007 -
Neurology India 2021Hydrocephalus is the most important co-morbidity in myelomeningocele from a neurosurgical perspective. Historically, 75-80% of patients with myelomeningocele have... (Review)
Review
Hydrocephalus is the most important co-morbidity in myelomeningocele from a neurosurgical perspective. Historically, 75-80% of patients with myelomeningocele have required treatment with a shunt but recent advances including intra-uterine myelomeningocele closure and ETV-CPC are reducing this burden. The expression of hydrocephalus differs between patients and across the life span. Hydrocephalus impacts the clinical expression of other important co-morbidities including the Chiari II malformation and tethered spinal cord. Shunt failure is often the key stress to prompt symptomatic worsening of these other conditions. Shunt failure may occur with minimal ventricular change on CT or MRI in Spina Bifida patients. Waiting for radiographic changes in symptomatic SB patients with shunts may result in hydrocephalus related fatalities. It is hypothesized but not proven that shunt failure may contribute to respiratory insufficiency and be a risk factor for sudden death in adult patients with spina bifida. Excellence in hydrocephalus management in MMC is essential for proper care, good outcomes, and quality of life for patients and families.
Topics: Adult; Arnold-Chiari Malformation; Humans; Hydrocephalus; Meningomyelocele; Quality of Life; Spinal Dysraphism
PubMed: 35102990
DOI: 10.4103/0028-3886.332247 -
Nature Reviews. Nephrology Jul 2019X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb...
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults. The characteristics and severity of XLH vary between patients. Because of its rarity, the diagnosis and specific treatment of XLH are frequently delayed, which has a detrimental effect on patient outcomes. In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association with hypophosphataemia and renal phosphate wasting in the absence of vitamin D or calcium deficiency. Whenever possible, the diagnosis should be confirmed by molecular genetic analysis or measurement of levels of fibroblast growth factor 23 (FGF23) before treatment. Owing to the multisystemic nature of the disease, patients should be seen regularly by multidisciplinary teams organized by a metabolic bone disease expert. In this article, we summarize the current evidence and provide recommendations on features of the disease, including new treatment modalities, to improve knowledge and provide guidance for diagnosis and multidisciplinary care.
Topics: Algorithms; Antibodies, Monoclonal; Antibodies, Monoclonal, Humanized; Arnold-Chiari Malformation; Biomarkers; Bone Density Conservation Agents; Bone and Bones; Continuity of Patient Care; Craniosynostoses; Delphi Technique; Dental Care; Familial Hypophosphatemic Rickets; Fibroblast Growth Factor-23; Growth Hormone; Hearing Loss; Humans; Immunologic Factors; Life Style; Mutation; Orthopedic Procedures; PHEX Phosphate Regulating Neutral Endopeptidase; Phosphates; Physical Therapy Modalities; Radiography; Vitamin D
PubMed: 31068690
DOI: 10.1038/s41581-019-0152-5 -
Neurology India Mar 2024
Topics: Humans; Arnold-Chiari Malformation
PubMed: 38817188
DOI: 10.4103/neurol-india.Neurol-India-D-24-00173 -
Neurosurgery Clinics of North America Jan 2023Anatomic MRI, MRI flow studies, and intraoperative ultrasonography demonstrate that the Chiari I malformation obstructs CSF pathways at the foramen magnum and prevents... (Review)
Review
Anatomic MRI, MRI flow studies, and intraoperative ultrasonography demonstrate that the Chiari I malformation obstructs CSF pathways at the foramen magnum and prevents normal CSF movement through the foramen magnum. Impaired CSF displacement across the foramen magnum during the cardiac cycle increases pulsatile hindbrain motion, pressure transmission to the spinal subarachnoid space, and the amplitude of CSF subarachnoid pressure waves driving CSF into the spinal cord. Central canal septations in adults prevent syrinx formation by CSF directly transmitting its pressure wave from the fourth ventricle to the central canal.
Topics: Adult; Humans; Syringomyelia; Hydrodynamics; Arnold-Chiari Malformation; Subarachnoid Space; Cerebrospinal Fluid Pressure
PubMed: 36424067
DOI: 10.1016/j.nec.2022.08.007 -
Journal of Clinical Medicine Jul 2023Chiari malformations are a group of craniovertebral junction anomalies characterized by the herniation of cerebellar tonsils below the foramen magnum, often accompanied... (Review)
Review
Chiari malformations are a group of craniovertebral junction anomalies characterized by the herniation of cerebellar tonsils below the foramen magnum, often accompanied by brainstem descent. The existing classification systems for Chiari malformations have expanded from the original four categories to nine, leading to debates about the need for a more descriptive and etiopathogenic terminology. This review aims to examine the various classification approaches employed and proposes a simplified scheme to differentiate between different types of tonsillar herniations. Furthermore, it explores the most appropriate terminology for acquired herniation of cerebellar tonsils and other secondary Chiari-like malformations. Recent advances in magnetic resonance imaging (MRI) have revealed a higher prevalence and incidence of Chiari malformation Type 1 (CM1) and identified similar cerebellar herniations in individuals unrelated to the classic phenotypes described by Chiari. As we reassess the existing classifications, it becomes crucial to establish a terminology that accurately reflects the diverse presentations and underlying causes of these conditions. This paper contributes to the ongoing discussion by offering insights into the evolving understanding of Chiari malformations and proposing a simplified classification and terminology system to enhance diagnosis and management.
PubMed: 37510741
DOI: 10.3390/jcm12144626 -
Graefe's Archive For Clinical and... Dec 2023Acute acquired comitant esotropia (AACE) is an uncommon subtype of esotropia characterized by sudden and usually late onset of a relatively large angle of comitant... (Review)
Review
BACKGROUND
Acute acquired comitant esotropia (AACE) is an uncommon subtype of esotropia characterized by sudden and usually late onset of a relatively large angle of comitant esotropia with diplopia in older children and adults.
METHODS
A literature survey regarding neurological pathologies in AACE was conducted using databases (PubMed, MEDLINE, EMBASE, BioMed Central, the Cochrane Library, and Web of Science) in order to collect data for a narrative review of published reports and available literature.
RESULTS
The results of the literature survey were analyzed to provide an overview of the current knowledge of neurological pathologies in AACE. The results revealed that AACE with unclear etiologies can occur in many cases in both children and adults. Functional etiological factors for AACE were found to be due to many reasons, such as functional accommodative spasm, the excessive near work use of mobile phones/smartphones, and other digital screens. In addition, AACE was found to be associated with neurological disorders, such as astrocytoma of the corpus callosum, medulloblastoma, tumors of the brain stem or cerebellum, Arnold-Chiari malformation, cerebellar astrocytoma, Chiari 1 malformation, idiopathic intracranial hypertension, pontine glioma, cerebellar ataxia, thalamic lesions, myasthenia gravis, certain types of seizures, and hydrocephalus.
CONCLUSIONS
Previously reported cases of AACE with unknown etiologies have been reported in both children and adults. However, AACE can be associated with neurological disorders that require neuroimaging probes. The author recommends that clinicians should perform comprehensive neurological assessments to rule out neurological pathologies in AACE, especially in the presence of nystagmus or abnormal ocular and neurological indications (e.g., headache, cerebellar imbalance, weakness, nystagmus, papilloedema, clumsiness, and poor motor coordination).
Topics: Child; Adult; Humans; Esotropia; Arnold-Chiari Malformation; Astrocytoma; Headache; Eye; Acute Disease; Retrospective Studies
PubMed: 37145335
DOI: 10.1007/s00417-023-06092-3