Arnold chiari malformation

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...

Chiari malformation 1 (CM1) is defined as a herniation of encephalon matter through the base of the skull. The amount of herniation is cited as greater than 3 mm or 5 mm, depending on the source of literature. We report a rare case of a 55-year-old male initially presenting with bilateral papilledema and monocular right lower quadrantanopia, found to have CM1. An MRI confirmed 4.87 mm herniation of the cerebellar tonsils at the foramen magnum, and he was diagnosed with CM1. He was later found to have a normal opening pressure on lumbar puncture at 10 cm H2 O...

This study was conducted to investigate the clinical and anatomical importance of the relevant region from the perspective of surgical approaches by determining the morphometric analysis of the craniocervical junction and foramen magnum (FM) region and determining their distances from important anatomical points. This research was carried out with 59 skulls found at the Anatomy Laboratories of Erciyes and Ankara Medipol University. Metric measurements of FM and condyle, FM shape, condyle-fossa relationship, and pharyngeal tubercle (PT) were made in mm-based dry bone samples of unknown age and sex...

PURPOSE: Neural tube defects (NTDs) are one of the most common congenital anomalies and a cause of chronic disability. The study was done to study outcomes of neural tube defects admitted at a tertiary level neonatal intensive care unit (NICU) from 2018 to 2022, a period of 4 years that also coincided with the COVID pandemic. The secondary outcome was to study the clinical presentation, associated anomalies and epidemiological features. METHODS: It was a retrospective observational study; data of infants was obtained from medical records and analysis was done...

PURPOSE: To investigate height of the corpus callosum (CC) in order to describe the corpus callosum anomalies in fetuses with meningomyelocele (MMC) and compare these findings with the corpus callosum of healthy fetuses. METHODS: In this study, fetal MRI examinations were performed on 44 fetal MMC malformation cases. As the control group, 34 fetal MRI examinations, which were anatomically normal, were evaluated retrospectively. In the study group, lateral ventricle diameter, the level and diameter of the MMC defect, and CC height were measured...

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STUDY DESIGN: Retrospective review of Kids' Inpatient Database (KID). PURPOSE: Identify the risks and complications associated with surgery in adolescents diagnosed with Chiari and scoliosis. OVERVIEW OF LITERATURE: Scoliosis is frequently associated with Chiari malformation (CM). More specifically, reports have been made about this association with CM type I in the absence of syrinx status. METHODS: The KID was used to identify all pediatric inpatients with CM and scoliosis...

Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 ( YY1) gene. Individuals with this syndrome present with multiple congenital anomalies, as well as a delay in development and intellectual disability. Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha Stimulating ( GNAS ) gene, which was identified by whole-exome sequencing. Our patient suffered from a large open spinal dysraphism which was treated surgically immediately after birth...

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...

OBJECTIVE: The Chiari malformations present heterogeneous entities, raising many questions regarding their natural history, pathophysiology, treatment options and prognosis. Bibliometric analyses have emerged as a method to assess the impact of articles in current clinical practice. METHODS: The most cited articles were identified via Scopus library by using the keywords "Chiari", "Arnold-Chiari" and "Chiari malformation". The 100 most cited articles were then assembled and analyzed in detail...

A 2-day-old male black calf presented with neurological symptoms, including opisthotonus. It was unable to stand due to hindquarter paresis. At 5 days old, the calf was able to stand, but exhibited a crossed forelimb gait. Computed tomography and magnetic resonance imaging revealed the expansion of the sutures between the squamous-lateral part of the occipital bone and between the occipital-temporal bone, cerebellar tonsillar herniation, posterior displacement of the brainstem, and cervical syringomyelia at 12 days old...

BACKGROUND: Chiari malformation type 1 (CM-1) diagnosis is based on measurement of the cerebellar tonsils on cranial or cervical spine MRI. However. imaging parameters of cranial and cervical spine MRIs could differ because spine MRIs have greater resolution. METHODS: We conducted a retrospective chart review of 161 patients of a single neurosurgeon for Adult CM-I consultation between February 2006 and March 2019. Patients were selected based on receiving both cranial and cervical spine MRIs within a month of each other to determine tonsillar ectopia length for CM-1...

A 6-year-old girl with persistent headaches and the visual problem was diagnosed as a delayed onset cranial pansynostosis with concurrent type 1.5 Arnold-Chiari malformation. She underwent multi-sutural reconstructive surgery and followed. The headache was greatly decreased and tonsillar-brain stem herniation and syrinx were resolved.

OBJECTIVE: There are two separate theories regarding the genesis of os odontoideum: congenital and post-traumatic. Trauma documentation in the past has been the presence of a normal odontoid process at the time of initial childhood injury and subsequent development of the os odontoideum. True MR documentation of craniocervical injury in early childhood and subsequent os odontoideum formation has been very rare. METHODS: An 18-month-old sustained craniocervical ligamentous injury documented on MRI with transient neurological deficit...

Arnold-Chiari malformation is a very uncommon array of deformities in the posterior part of the cranium and hindbrain caused due to abnormal extension of the posterior brain into the spinal canal. Chiari malformation is further divided into subtypes 1, 2, and 3. The latter two are more common in pediatric forms and present at birth. The severity of symptoms depends upon the extent of herniation of the hindbrain due to herniation of the cerebellum through the foramen of the cranium. Also, there have been instances of absence of cerebellum...

Previously reported cases of acute acquired comitant esotropia (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 A or V pattern esotropia, nystagmus, or abnormal ocular and neurological indications (e.g., headache, cerebellar imbalance, weakness, nystagmus, papilloedema, clumsiness, and poor motor coordination)...

Cochlear implantation (CI) can be safely performed in patients with syndromic hearing loss. Here we present a case of CI in a child with Klippel-Feil syndrome with various skeletal, extraskeletal, cochleovestibular and Arnold-Chiari malformations. Multidisciplinary approach and good preoperative imaging play a key role in planning for surgery.

Background Chiropractors often use manual thrust cervical spinal manipulative therapy (thrust-cSMT) to treat musculoskeletal neck conditions. We hypothesized <50% of surveyed Asia-Pacific chiropractors would report using thrust-cSMT given potential contraindications, and secondarily explored predictors of thrust-cSMT use. Materials and methods We designed, validated, achieved sufficient reliability, and disseminated a survey to explore thrust-cSMT use. The survey queried chiropractors' characteristics (e...

Mosaic variegated aneuploidy syndrome 2 (MVA2) (MIM# 614114) is a rare autosomal recessive condition caused by biallelic loss of function variants in the CEP57 gene. MVA2 is characterized by a variable phenotype ranging from poor growth to facial dysmorphism, short stature and congenital heart defects. Only eleven families and five pathogenic variants of MVA2 have been described so far. Intragenic duplication of 11 nucleotides (c.915_925dup11) in homozygous or compound heterozygous state is the commonest genetic aberration (10/13)...

A variety of factors could contribute to facial oedema during a prone neurosurgical procedure. For optimal surgical exposure, suboccipital cranial surgeries frequently necessitate extreme neck flexion. Extreme neck flexion in the prone position can impair venous drainage of the facial and oropharyngeal structures, leading to life-threatening oedema, so a two-fingerbreadth space between the chin and the sternum is critical. We present a case of massive facial oedema with submandibular swelling in a patient who underwent foramen magnum decompression in the prone position for Arnold Chiari malformation...