Prenatal diagnosis of non-typical Chiari malformation type I associated with de novo Nuclear Factor I A gene mutation: a case report.

BACKGROUND: Chiari malformation is one of the most common Central nervous system (CNS) abnormalities that can be detected in routine fetal scanning. Chiari malformation type I (CMI) is a congenital defect characterized by a displacement of the cerebellar tonsils through the foramen magnum. The etiology of CMI has not been well established and suggested having multifactorial contributions, especially genetic deletion. Clinical characteristics of this anomaly may express in different symptoms from neurological dysfunction and/or skeletal abnormalities in the later age, but it is rarely reported in pregnancy. CASE PRESENTATION: We present a case in which the Chiari malformation type I was diagnosed with comorbidities of facial anomalies (flatting forehead and micrognathia) and muscular-skeletal dysmorphologies (clenched hands and clubfeet) at the 24+6 weeks of gestation in a 29-year-old Vietnamese pregnant woman. The couple refused an amniocentesis, and the pregnancy was followed up every 4 weeks until a spontaneous delivery occurred at 38 weeks. The newborn had a severe asphyxia and seizures at birth required to have an emergency resuscitation at delivery. He is currently being treated in the intensive neonatal care unit. He carries the novel heterozygous NFIA gene mutation confirmed after birth. No further postnatal malformation detected. CONCLUSION: CMI may only represent with facial abnormalities and muscle-skeletal malformations at the early stage of pregnancy, which may also alert an adverse outcome. A novel heterozygous NFIA gene mutation identified after birth helps to confirm prenatal diagnosis of CMI and to provide an appropriate consultation.

[Clinical evaluation methods for craniovertebral junction abnormalities].

Craniovertebral junction malformation is a congenital malformation located in the foramen magnum and upper cervical spine, including bone and nerve malformation, resulting in motor and sensory disorders, cerebellar and lower cranial nerves, etc. The evaluation methods of clinical symptoms and efficacy of craniovertebral junction malformation are important for the surgical indications and effects, mainly including the evaluation of clinical symptoms and the quality of life. At present, the commonly used methods in clinical work and literature are the Japanese orthopaedic association scores, visual analogue scales, 36-item short-form health survey, etc. Most of these clinical evaluations are not aimed at craniovertebral junction diseases but focus on the description of a certain type of clinical symptoms. Chicago Chiari outcome scale and syringomyelia outcome scale of Xuanwu hospital are dedicated to Craniovertebral junction malformation, but more clinical studies are needed to prove their effectiveness. Based on the literature reports, this article reviewed the previous clinical evaluation methods of craniovertebral junction malformation and discusses their applications and limitations.

Non-invasive Intracranial Pressure Waveform Analysis in Chiari Malformation Type 1: A Pilot Trial.

OBJECTIVE: This pilot study aimed to investigate the role of Posterior Fossa Decompression (PFD) on the intracranial pressure (ICP) waveform in patients with Chiari Malformation type 1 (CM1). It also sought to explore the relationship between symptom improvement and ICP waveform behavior. METHODS: This exploratory cohort study evaluated adult patients diagnosed with CM1. The patients underwent PFD using a standard technique at our institution, which involved a 3 × 3 cm posterior craniectomy and excision of the posterior arch of C1. The ICP waveform was measured using an external strain-gauge device connected to a pin attached to the skull. Measurements were collected pre- and post-PFD, and the P2/P1 ratio was calculated pre- and postoperatively. RESULTS: The pilot study comprised 6 participants, 3 men and 3 women, with ages ranging from 39 to 68 years. The primary symptoms were cerebellar ataxia and typical headaches. The study found that most patients who showed clinical improvement, as judged by the Gestalt method, had a postoperative decrease in the P2/P1 ratio. However, 1 patient did not show an improvement in the P2/P1 ratio despite a good clinical outcome. CONCLUSIONS: This study suggests that the P2/P1 ratio may decrease after PFD. However, we highlight the need for further research with a larger sample size to confirm these preliminary results.

Chiari Type 1 Malformation: An Unusual Cause of Tinnitus.

Chiari Malformations are a group of conditions defined in 1891 with 5 degrees being described. These malformations present with several symptoms such as cervical protrusion and are associated with hydrocephalus. Also, they can also present with different clinical signs and symptoms, such as deafness and tinnitus. We present a case of a 45-year-old man with unilateral tinnitus evaluated in otolaryngology office. No other symptoms on otolaryngological physical exam were detected in the audiogram performed it was described a significant unilateral sensorineural hearing loss. During the study of this patient, Magnetic Resonance Imaging was requested, showing a type I Chiari malformation. The patient was then observed by Ophthalmology, Neurology, and Neurosurgery. No other neurological symptoms of malformation Chiari syndrome or cranial nerve abnormalities were presented at the respective exam. The surgical management of these pathologies takes into account an adequate CSF and venous blood flow - that was seen in this patient, therefore, there was no surgical indication for decompression. The patient maintains its follow-up in the otolaryngology, neurology, and neurosurgery office, and tinnitus was minimized after prosthetic adaptation was recommended to optimize the quality of life, which was achieved.

Chiari III malformation in a neonate.

Chiari malformation (CM) is a group of complex deformities of the posterior fossa and hindbrain, of which CMIII is the rarest. We report a term neonate, with an antenatal diagnosis of occipital encephalocele, who underwent resection of the encephalocele and ligation of vessels, with repair of a large scalp defect and dural reconstruction on day 4 of life. The parents of the child had been counselled for a guarded and poor prognosis on initial diagnosis. The child has had a good postoperative course without complications but suffers from cortical visual impairment and global developmental delay.

Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines for Patients With Chiari Malformation: Diagnosis.

BACKGROUND: Chiari I malformation (CIM) is characterized by descent of the cerebellar tonsils through the foramen magnum, potentially causing symptoms from compression or obstruction of the flow of cerebrospinal fluid. Diagnosis and treatment of CIM is varied, and guidelines produced through systematic review may be helpful for clinicians. OBJECTIVE: To perform a systematic review of the medical literature to answer specific questions on the diagnosis and treatment of CIM. METHODS: PubMed and Embase were queried between 1946 and January 23, 2021, using the search strategies provided in Appendix I of the full guidelines. RESULTS: The literature search yielded 567 abstracts, of which 151 were selected for full-text review, 109 were then rejected for not meeting the inclusion criteria or for being off-topic, and 42 were included in this systematic review. CONCLUSION: Three Grade C recommendations were made based on Level III evidence. The full guidelines can be seen online at https://www.cns.org/guidelines/browse-guidelines-detail/1-imaging .

Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines for Patients With Chiari Malformation: Symptoms.

BACKGROUND: Chiari I malformation (CIM) is characterized by descent of the cerebellar tonsils through the foramen magnum, potentially causing symptoms from compression or obstruction of the flow of cerebrospinal fluid. Diagnosis and treatment of CIM is varied, and guidelines produced through systematic review may be helpful for clinicians. OBJECTIVE: To perform a systematic review of the medical literature to answer specific questions on the diagnosis and treatment of CIM. METHODS: PubMed and Embase were queried between 1946 and January 23, 2021, using the search strategies provided in Appendix I of the full guidelines. RESULTS: The literature search yielded 430 abstracts, of which 79 were selected for full-text review, 44 were then rejected for not meeting the inclusion criteria or for being off-topic, and 35 were included in this systematic review. CONCLUSION: Four Grade C recommendations were made based on Class III evidence, and 1 question had insufficient evidence. The full guidelines can be seen online at https://www.cns.org/guidelines/browse-guidelines-detail/2-symptoms .

Acute presentation of Chiari malformation type I in adulthood with arm swelling, a case report and literature review.

INTRODUCTION: Chiari malformation type I (CM-I) with cervicothoracic syringomyelia can progress slowly this condition which is very common in clinical practice, particularly in children. CASE PRESENTATION: Patients typically present with chronic complaints, including headache, dizziness, and numbness, although are few reports in the literature describing pediatric patients who developed acute neurological deficits caused by CM-I. Here, we report an unusual presentation of this condition; the patient presented with sudden onset arm swelling with no precipitating factors that could explain the diagnosis. DISCUSSION: This is an illustrated case report and literature review. The patient's condition improved post-operatively; in terms of arm and hand swelling which resolved, but he still complained of persistent numbness on a follow-up visit.

Juvenile scoliosis as the first manifestation of syringomyelia associated with Chiari malformation type I.

BACKGROUND: Scoliosis is a spinal deformity that usually manifests as a structural curve determining a variable deformity of the trunk. According to some published series, 4 to 26% of scoliosis initially classified as idiopathic show neurological alterations when studied with nuclear magnetic resonance, such as syringomyelia and Chiari malformation, among the most frequent. Chiari malformations are characterized by descending herniation of the cerebellar tonsils, brainstem, and IV ventricle into the spinal canal. CASE REPORT: We present the case of a patient whose first symptomatic manifestation was early-onset scoliosis. The overlapping of some physical examination signs, such as postural lateralization and scoliosis, reinforced the active suspicion of neuroaxis alterations. CONCLUSIONS: Early childhood-onset scoliosis should raise a high degree of suspicion for association with neuro-spinal diseases. Although the frequency of Chiari malformation is low, its early approach could reduce the progression of associated comorbidities. An early detection could change the prognosis of the disease.

INTRODUCCIÓN: La escoliosis es una deformidad de la columna que usualmente se manifiesta como una curva estructural que determina una deformidad variable del tronco. Las malformaciones de Chiari se caracterizan por la herniación descendente de las amígdalas cerebelosas, tronco encefálico y IV ventrículo hacia el canal espinal. Según algunas series publicadas, del 4 al 26% de las escoliosis inicialmente catalogadas como idiopáticas muestran alteraciones neurológicas al ser estudiadas con resonancia magnética nuclear, como la siringomielia y malformación de Chiari, dentro de las más frecuentes. CASO CLÍNICO: Se presenta el caso de un paciente cuya primera manifestación sintomática fue escoliosis de comienzo temprano. El solapamiento de algunos signos del examen físico, como la lateralización de la postura y la escoliosis, reforzaron la sospecha activa de alteraciones del neuroeje. CONCLUSIONES: La escoliosis de inicio temprano en la infancia debe despertar un alto grado de sospecha de asociación con enfermedades neuro-espinales. Dentro de este contexto, aunque malformación Chiari es de baja frecuencia, su abordaje precoz permitiría disminuir la progresión de comorbilidades asociadas. La detección temprana podría cambiar el pronóstico de la enfermedad.

A Rare Case Report of Eight Syndrome Secondary to Syringomyelia Associated with Type I Chiari Malformation.

Eight syndrome is defined as the combination of a unilateral conjugate gaze palsy and ipsilateral seventh cranial nerve palsy. It may occur as a result of demyelinating, vascular, infectious, or compressive lesions of the brainstem localized to the caudal pontine tegmentum. A 43-year-old woman was admitted to our clinic with complaints of headache, inability to look to the left, and weakness on the left side of her face. The complaints had begun abruptly about a month before her admission. Suboccipital decompression surgery for type I Chiari malformation had been performed 10 years earlier. Neuro-ophthalmological examination revealed left-sided horizontal gaze palsy and anisocoria. Cranial and cervical magnetic resonance images revealed cerebellar tonsillar herniation and syringomyelia, the latter of which was considered to be the cause of eight syndrome. No interventions were performed, and periodic follow-up was advised on neurosurgical consultation. Left gaze palsy and facial palsy recovered almost completely in three months, while the anisocoria persisted. Syringomyelia should be considered among the causes of horizontal gaze palsy plus ipsilateral seventh nerve palsy, termed as eight syndrome. Clinical suspicion and appropriate radiological examination can aid in the diagnosis.

Encephalitis Associated With SARS-CoV-2 Infection in a Child With Chiari Malformation Type I.

BACKGROUND/AIM: There is increasing evidence that patients infected with SARS-CoV-2 develop neurological manifestations such as encephalitis. The purpose of this article was to present a case of viral encephalitis associated with SARS-CoV-2 in a 14-year-old child with Chiari malformation type I. CASE REPORT: The patient manifested frontal headache, nausea, vomiting, skin pallor, right side Babinski sign and was diagnosed with Chiari malformation type I. He was admitted with generalized seizures and suspected encephalitis. Brain inflammation and viral RNA in the cerebrospinal fluid suggested SARS-CoV-2 encephalitis. These findings indicate that the SARS-CoV-2 test in CSF of patients with neurological manifestations, confusion, and fever during the COVID-19 pandemic should be carried out even when there is no evidence of respiratory infection. To our knowledge, this presentation of encephalitis associated with COVID-19 has not yet been reported in a patient with a congenital syndrome such as Chiari malformation type I. CONCLUSION: Further clinical data are needed to determine the complications of encephalitis due to SARS-CoV-2 in patients with Chiari malformation type I to standardize diagnosis and treatment.

Sociodemographics of Chiari I Malformation.

Socioeconomic and demographic factors affect the care of patients with Chiari I malformations. This article describes the current cost of surgical treatment of Chiari I malformations and highlights how careful patient selection, treatment selection, postoperative protocols, and varying payment models may serve as cost-reducing measures. In addition, the article highlights racial disparities resulting in delayed diagnosis and greater disease progression in non-white patients, as well as the relative parity in the workup and treatment of Chiari I malformation based on insurance status. These findings illustrate the need for greater access to neurosurgical care and greater outreach to community physicians by the neurosurgical community.

Idiopathic Intracranial Hypertension and Vascular Anomalies in Chiari I Malformation.

Mounting evidence has suggested a relationship between Chiari I malformation and idiopathic intracranial hypertension, with some studies implicating anomalies of the cerebral venous system in the development of these conditions. However, precise mechanisms explaining these associations are not well described. There is a clear need to clarify the interplay between these conditions to guide further study in this area. In tandem with these efforts, it is necessary to review proper diagnosis and management to improve outcomes in patients suffering from these diseases.

Clinical Manifestations of Chiari I Malformation.

Chiari 1 malformation (CM1) includes a spectrum of clinical manifestations. These signs and symptoms result from compression at the cervicomedullary junction and alteration in cerebrospinal fluid dynamics thus affecting several structures above, at, and below the cervicomedullary junction. Differences in presentation exist among different age groups and high clinical suspicion should be present in younger children. Additionally, CM1 can be associated with other diagnoses and can have unusual acute presentations that should be recognized to ensure excellent outcomes..

Chiari I Malformation and Sleep-Disordered Breathing.

Sleep-disordered breathing (SDB) is a frequent symptomatic feature of pediatric Chiari I, reported in at least 24% of patients presenting to neurosurgeons. Here the epidemiology, natural history, pathophysiology, and diagnosis of SDB in Chiari I is reviewed. Diagnosis requires polysomnography, which should be pursued in young or symptomatic patients or those with prominent imaging findings. Review of case series of surgical decompression suggest that surgical decompression can improve SDB in selected patients.

Orthostatic Intolerance and Chiari I Malformation.

Individuals with Chiari malformation can present with symptoms of fatigue, lightheadedness, and syncope-the cardinal features of orthostatic intolerance. Similar orthostatic symptoms can complicate the clinical course following Chiari decompression. The presence of orthostatic intolerance in patients with Chiari malformation is not surprising given the location of the major circulatory control centers and their pathways in the brainstem. This article reviews the normal physiologic response to upright posture and the common forms of orthostatic intolerance encountered in clinical practice. The authors describe the relationship between orthostatic intolerance and Chiari malformation and provide suggestions regarding the evaluation and management of these disorders.