Search Results (7)

Background: Chiari malformation is a condition involving caudal descent of the hindbrain which herniates the cerebellar tonsils through the foramen magnum. The purpose of this study was to quantify auditory deficits in an affected individual and to explore the hypothesis that cerebellar malformation specifically disrupts binaural processing. Methods: We present audiometric, electrophysiologic, imaging and auditory perceptual findings for a 17-year-old female with Chiari 1 malformation and for a cohort of 35 hearing- and age-matched controls. Results: The patient presented with auditory deficit consistent with cerebellar disorder—that is, an impaired ability to judge the duration of auditory stimuli. In addition, she showed evidence of abnormal binaural processing affecting her capacity to localise sound sources to optimise speech perception in background noise. The provision of a remote microphone listening device was successful in improving her perceptual ability to normal levels. Conclusions: Despite normal sound detection ability, this child with Chiari 1 malformation suffered functional hearing deficits severe enough to impact everyday listening/communication and educational progress. These limitations were ameliorated through auditory intervention. Full article

Chiari malformation type 1 (CM1) is a structural defect that involves the herniation of the cerebellar tonsils through the foramen magnum, causing mild to severe neurological symptoms. Little is known about the molecular and developmental mechanisms leading to its pathogenesis, prompting current efforts to elucidate genetic drivers. Inherited genetic disorders are reported in 2–3% of CM1 patients; however, CM1, including familial forms, is predominantly non-syndromic. Recent work has focused on identifying CM1-asscoiated variants through the study of both familial cases and de novo mutations using exome sequencing. This article aims to review the current understanding of the genetics of CM1. We discuss three broad classes of CM1 based on anatomy and link them with genetic lesions, including posterior fossa-linked, macrocephaly-linked, and connective tissue disorder-linked CM1. Although the genetics of CM1 are only beginning to be understood, we anticipate that additional studies with diverse patient populations, tissue types, and profiling technologies will reveal new insights in the coming years. Full article

Background: Chiari malformation is a rare congenital condition in which the cerebellar tonsils herniate through the foramen magnum, causing symptoms related to compression of the surrounding structures. Rehabilitation plays a key role in the pre- and post-operative management of the syndrome, as it can improve strength, range of motion, motor coordination, pain management, and performance of activities of daily living. Methods: This article presents the case of a 43-year-old woman with Chiari malformation 1B who underwent resection of the filum terminale. She presented as an outpatient at the University Hospital “G. Martino” in Messina, complaining of difficulty walking, balance problems, lumbar pain, and heaviness in the lower limbs. Following a multidisciplinary assessment, she underwent an 11-month rehabilitation protocol based on cognitive therapeutic exercise. Results: The patient achieved significant improvements in pain, mental confusion, and quality of life after treatment and at the 12-month follow-up. Conclusions: The results of this study highlight the significant benefits of cognitive therapeutic exercises in Chiari malformation, with improvements in several key areas, including quality of life, pain management, and ability to perform activities of daily living. Full article

Background: Chiari malformation type 1 (CM-1) involves the cerebellar tonsils’ descent below the foramen magnum. In Chiari malformation type 1.5 (CM-1.5), both the cerebellar tonsils and the brainstem are herniated. Common symptoms include headaches and cervical pain, often associated with conditions like syringomyelia and hydrocephalus. Surgical treatment is not performed in asymptomatic patients, while the presence of syringomyelia represents an indication for surgery. Methods: This study retrospectively examined pediatric patients with CM-1 and CM-1.5 at Giannina Gaslini Hospital from 2006 to 2020, analyzing demographics, radiological findings, surgical interventions, and outcomes. Results: Out of 211 patients who underwent surgery, 83.9% were diagnosed with CM-1 and 16.1% with CM-1.5. Headaches were prevalent (69%) and cerebellar signs were noted in 29% of patients. Syringomyelia and hydrocephalus were present in 28.4% and 8% of cases, respectively. Intraoperative ultrasonography guided interventions, with 59.8% requiring bony and ligamentous decompression, and 27.1% undergoing duraplasty. Conclusions: The surgical treatment of CM-1/CM-1.5 involves posterior cranial fossa decompression. Choosing between bony decompression alone and its combination with duraplasty has always been controversial in the pediatric population. If we consider as surgical endpoint the restoration of cerebrospinal fluid (CSF) flux, intraoperative ultrasound may be a real-time helpful tool in orienting the surgical strategy, yet refinement with quantitative measures is needed. Full article

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. Full article

Patients showing typical Chiari malformation type 1 (CM1) signs and symptoms frequently undergo cranial and cervical MRI. In some patients, MRI documents >5 mm of cerebellar tonsillar herniation (TH) and the diagnosis of CM1. Patients with 3–5 mm TH have “borderline” CM1. Patients with less than 3 mm of TH and an associated cervical syrinx are diagnosed with Chiari “zero” malformation (CM0). However, patients reporting CM1 symptoms are usually not diagnosed with CM if MRI shows less than 3–5 mm of TH and no syrinx. Recent MRI morphometric analysis of the posterior fossa and upper cervical spine detected anatomical abnormalities in and around the foramen magnum (FM) that explain these patients’ symptoms. The abnormalities include a reduced size of the posterior fossa, FM, and upper cervical spinal canal and extension of the cerebellar tonsils around the medulla rather than inferior to the foramen magnum, as in CM1. These morphometric findings lead some neurologists and neurosurgeons to diagnose CM0 in patients with typical CM1 signs and symptoms, with or without cervical syringes. This article reviews recent findings and controversies about CM0 diagnosis and updates current thinking about the clinical and radiological relationship between CM0, borderline CM1, and CM1. Full article

Chiari I malformation is characterized by the herniation of cerebellar tonsils below the foramen magnum. It is often accompanied by syringomyelia and neurosurgical management is still controversial. In fact, it is frequent that some symptomatic patients initially undergo bony decompression of the posterior fossa and need in a short time more invasive surgery with higher morbility (e.g., decompression of posterior fossa with dural plastic, with or without tonsillar coarctation) because of unsatisfactory results at MRI controls. This study proposes a machine learning approach (based on SVM classifier), applied to different morphometric indices estimated from sagittal MRI and some information on the patient (i.e., age and symptoms at diagnosis), to recognize patients with higher risk of syringomyelia and clinical deterioration. Our database includes 58 pediatric patients who underwent surgery treatment. A negative outcome at 1 year from the intervention was observed in 38% of them (accuracy of 62%). Our algorithm allows us to increase the accuracy to about 71%, showing it to be a valid support to neurosurgeons in refining the clinical picture. Full article