MRI Insights in Chiari Malformation Type 1 and Variations With Hydrosyringomyelia.

Chiari malformation (CM) type 1 is a complex neurological disorder characterized by the displacement of the cerebellar tonsils into the upper spinal canal. Hydrosyringomyelia (HSM), which frequently coexists with this condition, presents diagnostic and treatment problems due to its broad spectrum of symptoms. There are various forms of CMs, with CM type 1 (CM1) being the most common type. Magnetic resonance imaging (MRI) is the best imaging technique to properly identify and diagnose CM1 and HSM. Important imaging findings include downward displacement of the cerebellar tonsils across the foramen magnum, the appearance of the syrinx in the spinal cord, and the alteration of the flow dynamics of the cerebrospinal fluid. This study was conducted at Datta Meghe Medical College, Nagpur, and Government Medical College & Super Speciality Hospital, Nagpur, India. It focuses on the diagnostic use of MRI in CM1 and its variations associated with HSM. Individuals who are asymptomatic may not need any treatment; however, those who are symptomatic or have HSM may require surgical decompression and restoration of the flow. We discuss the findings of MRI of six cases of CM1 and its variants with HSM and search for possible underlying causes. We conclude that magnetic resonance imaging is an imaging modality for the identification and evaluation of CM1 in cases of HSM.

The Role of Neurophysiology in Managing Patients with Chiari Malformations.

Chiari malformation type 1 (CM1) includes various congenital anomalies that share ectopia of the cerebellar tonsils lower than the foramen magnum, in some cases associated with syringomyelia or hydrocephalus. CM1 can cause dysfunction of the brainstem, spinal cord, and cranial nerves. This functional alteration of the nervous system can be detected by various modalities of neurophysiological tests, such as brainstem auditory evoked potentials, somatosensory evoked potentials, motor evoked potentials, electromyography and nerve conduction studies of the cranial nerves and spinal roots, as well as brainstem reflexes. The main goal of this study is to review the findings of multimodal neurophysiological examinations in published studies of patients with CM1 and their indication in the diagnosis, treatment, and follow-up of these patients, as well as their utility in intraoperative monitoring.

Onset of Chiari type 1 malformation: insights from a small series of intrauterine MR imaging cases.

PURPOSE: Morphometric studies on idiopathic Chiari malformation type 1 (CM1) pathogenesis have been mainly based on post-natal neuroimaging. Prenatal clues related to CM1 development are lacking. We present pre- and post-natal imaging time course in idiopathic CM1 and assess fetal skull and brain biometry to establish if clues about CM1 development are present at fetal age. METHODS: Multicenter databases were screened to retrieve intrauterine magnetic resonance (iuMR) of children presenting CM1 features at post-natal scan. Syndromes interfering with skull-brain growth were excluded. Twenty-two morphometric parameters were measured at fetal (average 24.4 weeks; range 21 to 32) and post-natal (average 15.4 months; range 1 to 45) age; matched controls were included. RESULTS: Among 7000 iuMR cases, post-natal scans were available for 925, with postnatal CM1 features reported in seven. None of the fetuses presented CM1 features. Tonsillar descent was clear at a later post-natal scan in all seven cases. Six fetal parameters resulted to be statistically different between CM1 and controls: basal angle (p = 0.006), clivo-supraoccipital angle (p = 0.044), clivus' length (p = 0.043), posterior cranial fossa (PCF) width (p = 0.009), PCF height (p = 0.045), and PCFw/BPDb (p = 0.013). Postnatally, only the clivus' length was significant between CM1 cases and controls. CONCLUSION: Pre- and post-natal CM1 cases did not share striking common features, making qualitative prenatal assessment not predictive; however, our preliminary results support the view that some of the pathogenetic basis of CM1 may be embedded to some extent already in intrauterine life.

Can GH Therapy Worsen a Clinically Silent Chiari Malformation? A Case Report and Systematic Literature Review.

BACKGROUND: The link between the effects of recombinant human growth hormone (rhGH) therapy in patients with growth hormone deficiency (GHD) and Chiari malformation type I (CM-1) is controversial. SUMMARY: We report the case of a patient with an unusual association of GHD due to ectopic posterior pituitary and CM-1. Our patient developed a headache and worsening of CM-1 after the initiation of rhGH therapy. Following an atlo-occipital decompression surgery, the patient was able to resume therapy with a marked growth improvement. Based on this observation, we provide a systematic review of the current literature about these two pathologies. KEY MESSAGES: A careful follow-up of all patients with CM-1 treated with GH is mandatory, paying particular attention to the appearance of any neurological signs and symptoms.

A different perspective on the dilemma of durotomy or duraplasty in Chiari type 1 malformation surgery.

PURPOSE: Symptomatic Chiari type 1 malformation (CIM) patients may elect to be treated; however, choosing the optimum surgical method remains problematic: posterior fossa decompression with duraplasty (PFDD) or without duraplasty (PFD). Many studies have compared these surgical methods from several perspectives. We looked at soft tissue density (STD) at the foramen magnum to add another perspective to the comparison of PFD with PFDD. MATERIALS AND METHODS: Eighty-six patients who underwent surgery in our clinic were included in the study. We examined preoperative and postoperative MR images taken in the 1st year. We obtained the foramen magnum area (FMA) and soft tissue at the level of the foramen magnum. The STD within the foramen magnum was calculated as the percentage ratio of soft tissue area (STA) to FMA. Anteroposterior diameters of the syrinx cavities in sagittal T2 sections were measured preoperatively and at 1-year postoperatively. Measurements were double-blind and were performed by the neurosurgeon and by the neuroradiologist. RESULTS: There was no statistically significant difference between the postoperative FMA increases, STA changes, STD changes in patients who underwent PFD and PFDD. In this study, there was no statistically significant difference between PFD and PFDD in terms of syrinx changes. CONCLUSIONS: The medium-term anatomical outcome following craniovertebral decompression for CIM, is no different whether performed PFD or PFDD.

Elliptical shadow on the cervical spinal cord.

Chiari type 1 deformation can show progressive degenerative neurological presentation in the elderly.

Ayme gripp syndrome in an Indian patient.

Ayme Gripp syndrome (OMIM#601088) is a multisystem disorder caused by heterozygous variation in the MAF (OMIM*177075). The typical phenotype comprises a tetralogy of congenital cataract, sensory neural hearing loss, a characteristic facial appearance along with neurodevelopment abnormalities. Exact prevalence estimates are unknown. Only 21 individuals representing 19 families have been reported in the literature till date. To the best of our knowledge, this is the first detailed case report of a boy with Ayme Gripp syndrome from our country. Although he had multiple typical features of the syndrome along with a known pathogenic variation in the MAF, cataract was not observed in him at the age of seven years.

Mosaic Turner syndrome with improved Chiari type 1 malformation after growth hormone therapy: A case report.

We described a three-year-old girl whose Chiari type 1 malformation associated with mosaic Turner syndrome disappeared after GH therapy. She was diagnosed with mosaic Turner syndrome at the age of 1 yr and 7 mo by a chromosomal analysis (G-band) for short stature and was treated with GH. Sagittal T1-weighted magnetic resonance imaging (MRI) performed before the start of GH demonstrated herniation of the cerebellar tonsils 7 mm below the foramen magnum into the cervical spinal cord. After the initiation of GH therapy, the growth in height was favorable and improved from 70.6 cm (-3.5 SD) to 92 cm (-1.5 SD) in 2 yr. An MRI examination 19 mo later showed the disappearance of Chiari type 1 malformation. GH therapy either exacerbates or ameliorates Chiari type 1 malformations associated with GH deficiency (GHD). Since Turner syndrome uses more GH than GHD, careful follow-up is required if the disease is associated with Chiari type 1 malformation.

Appropriate surgical procedures for Chiari type 1 malformation and associated syrinx based on radiological characteristics of the craniovertebral junction.

Several surgical procedures can be applied for syrinx associated with Chiari type 1 malformation; however, it remains controversial as to which approach is the most effective. Here, we evaluated the indications and limitations of foramen magnum decompression (FMD) with or without dural plasty. Forty patients with Chiari type 1 malformation were surgically treated and followed up for > 12 months. Thirty-two patients (80.0%) underwent FMD with removal of only the outer dura mater layer, while eight patients underwent FMD with dural plasty. We evaluated surgery-related complications and preoperative radiological findings affecting syrinx shrinkage rates. Post-surgery, the mean syrinx shrinkage rates were 0.32 ± 0.44 in the outer layer-removal group and 0.72 ± 0.27 in the dural plasty group (P = 0.012). Surgery-related complications were less frequent, but reoperation was more frequent, in the outer layer-removal group. The extent of tonsillar descent significantly affected syrinx shrinkage in FMD with outer layer removal (P = 0.042). The outcomes of both approaches in patients with tonsillar descent < 10.0 mm were similar. The dura mater in the posterior fossa was thin, necessitating dural plasty with FMD, while the spinal dura was sufficiently thick for removal of the outer layer in the Chiari patients. These histological differences corresponded with the inferior margin of the cerebellar tonsil. Recognizing the appropriate surgical indication for achieving good post-procedural outcomes is necessary for reducing complications and improving outcomes of FMD for Chiari type 1 malformations.

Results of the surgical treatment in children with Chiari malformation type I.

PURPOSE: Our study aimed to evaluate the quality of life of the patients operated due to Chiari malformation type 1 (CM-1) in the Department of Pediatric Neurosurgery, Medical University of Silesia in Katowice. METHODS: We performed a retrospective analysis of 11 patients diagnosed with CM-1 who were treated in our center in the years 2007 to 2016. There were 6 female and 5 male individuals. Short-term evaluation of the outcome was based on comparison of the presenting symptoms and radiological images before and after the surgical treatment. Long-term follow-up was carried out using survey questionnaires based on the Chicago Chiari Outcome Scale (CCOS) devised originally by Aliaga et al. RESULTS: Patients, based on their CCOS score were divided into three groups marked as "improved," "unchanged," and "worse," depending on a range of CCOS score: 13-16, 9-12, 4-8, respectively. The outcome of patients was as follows: 6 patients (55%) were evaluated as improved, and 5 (45%) as unchanged. No patient was classified as worse after surgery. Significant negative Spearman's correlation was found between the CCOS score and patients' age at the time of surgery (R = - 0.85, p = 0.0009). CONCLUSIONS: The decision of whether to operate pediatric patients with CM-1 should be considered very carefully. In our department, the main indication for surgery was the occurrence of clinical symptoms. Our study revealed that in the symptomatic patients, surgery improves their quality of life measured with CCOS.

Familial Chiari Type 1: A Molecular Karyotyping Study in a Turkish Family and Review of the Literature.

BACKGROUND: The etiology of Chiari I malformation (CMI) has not been fully elucidated. Therefore, we performed a genetic study of a Turkish family in which 3 sisters had a diagnosis of CMI with or without syringomyelia. METHODS: In a family with 7 children, 4 daughters complained of occipital headaches. In 2 of these daughters, CMI had been diagnosed during their 30s, and CMI plus syrinx had been diagnosed in the other daughter in her 40s. Cranial magnetic resonance imaging of the fourth daughter who had developed headaches during her 30s showed normal findings. Because the other siblings in the family were asymptomatic, radiological examinations were not performed. The family had a history of distant consanguineous marriage between parents. Additionally, the father had died, and the mother was asymptomatic, with radiologically normal findings. Array comparative genome hybridization studies were performed for 12 persons from 3 generations of this family. RESULTS: None of the 12 cases examined harbored copy number variations. CONCLUSIONS: This family with 3 sisters having CMI suggested a possible autosomal recessive single-gene etiology. Cases of familial CMI are unusual but important to study because they could reveal the specific genes involved in posterior fossa/foramen magnum structure and function and provide insights into the cause of sporadic cases.

Current management of pediatric chiari type 1 malformations.

OBJECTIVES: Pediatric Chiari Type 1 Malformations (CM1) are commonly referred for neurosurgical opinion. The ideal management in children regarding surgical and radiographic decision making is not clearly delineated. PATIENTS AND METHODS: We retrospectively reviewed our cohort of patients age 18 years and younger referred to a single neurosurgeon for CM1. Baseline MRIs of the spine were obtained. Non-operative patients had repeat imaging at 6-12 months. Patients who underwent an operation (decompression with/without duraplasty) had repeat imaging at 6 months. RESULTS: One hundred and thirty-two patients with mean age of 10 years met inclusion criteria. All patients had post-operative symptomatic improvement. We identified 26 patients with syrinx, 8 with scoliosis, 3 with hydrocephalus, and one had tethered cord. The average tonsillar descent was 8.1 mm in the non-operative group and 11.9 mm in the operative group. Ninety-five patients were managed conservatively (72%). Thirty-seven were offered surgery (28%), and 33 patients underwent intervention; 21 with duraplasty (64%) and 12 without (36%). CONCLUSIONS: Pediatric patients with CM1 require both clinical and radiographic follow-up. Duraplasty may be performed if decompression fails to relieve symptomatology, but is not always needed. CM1 continues to present a challenge in surgical decision making. Adhering to a treatment paradigm may help alleviate difficult decision-making.

Minimally-invasive approach to posterior fossa decompression: Initial experience in Adult Chiari Type 1 Malformation patients.

We report our initial experience using Minimally-Invasive Surgery (MIS) technique for Posterior Fossa Decompression (PFD) in Adult Chiari 1 Malformation (C1M) patients. Five subjects who were treated with MIS PFD at our center and followed up over a 5-year period. Another nine subjects who were treated with Open PFD and follow up over the same period were used for comparison. This study suggests that there are little differences in efficacy and safety between MIS and Open PFD. Larger series and prospective randomized trials comparing the two methods would provide higher-quality evidence and clarify the role of either technique in the treatment of C1M.

Chiari type 1 malformation associated with central sleep apnea after high dose growth hormone (GH) therapy in a 12-year-old boy: A case report.

We describe the case of a short-statured 12-yr-old boy who developed a Chiari type 1 malformation associated with central sleep apnea after administration of high-dose GH therapy, which he had been receiving since the age of 10 yr and 4 mo. He responded well to GH therapy, and his height increased by 18.8 cm in 2 yr. At 12 yr and 4 mo of age, his mother reported that he had developed sleep apnea during the previous year and it had worsened over a month prior to presentation at our hospital. Otolaryngological examination did not reveal tonsillar or adenoidal hypertrophy. Polysomnography demonstrated severe central sleep apnea with an apnea-hypopnea index of 46.5/h. Sagittal T1-weighted magnetic resonance imaging (MRI) demonstrated herniation of the cerebellar tonsils 15 mm below the foramen magnum into the cervical spinal cord. Continuous positive airway pressure therapy initiated prior to performing neurosurgery was ineffective. Following uncomplicated foramen magnum decompression, his breathing pattern during sleep returned to normal. Sagittal MRI examination should be considered in patients who develop sleep apnea during/following administration of GH therapy.

Chiari type I malformation of infants and toddlers.

OBJECTIVES: Chiari I malformation has been a well-recognized clinical entity; however, its occurrence among infants and toddlers is unusual. Their clinical presentations may be different from other age groups due to their lack of effective verbal communication. The authors analyze their personal series of patients focusing on symptomatology and MRI characteristics. Treatment methods, results, and outcome are analyzed in order to identify appropriate surgical management among infants and toddlers with Chiari I malformation. METHODS: The authors retrospectively reviewed 16 patients who were diagnosed and surgically treated between 2007 and 2014 during the first 3 years of life with minimum follow-up of 3 years. We focused on the presenting symptoms, magnetic resonance imaging findings, and surgical techniques used for posterior fossa decompression (PFD) and their postoperative outcome. RESULTS: Twelve patients (75%) presented with signs of headaches such as irritability, inconsolable crying, head grabbing, and/or arching back. Ten patients (62.5%) presented with oropharyngeal and/or respiratory symptoms such as emesis, choking, gagging, snoring, sleep apnea, breathing pause, and/or vocal cord palsy. Only one patient had segmental cervical hydromyelia. At the first surgery, ten patients had PFD with dural scoring (Type 1 procedure), while six others had PFD with duraplasty (Type 2 procedure) with thermal reduction of the cerebellar tonsils in four. Following the first operation, all initially had varying degrees of symptomatic improvement; however, seven patients subsequently had symptomatic recurrence. Persistent crowding at the PFD site on the postoperative imaging indicated greater risk of recurrences in both Type 1 procedure and Type 2 procedure groups. Of seven patients who needed a second operation, fivewere after Type 1 procedure and the two were after Type 2 procedure. The difference of recurrence rates between these two groups is not significant. CSF-related complications occurred in 4 out of 11 patients who had Type 2 procedure (one after primary decompression and three after the second decompression for recurrence). CONCLUSION: Young patients lacking effective verbal communication often present their Chiari I malformation differently from olderage groups. Behavioral changes indicative of headaches/irritability and oropharyngeal/respiratory symptoms are the primary presenting symptoms. The recurrence rate tends to be higher among the patients after Type 1 procedure (particularly those younger than 18 months) than after Type 2 procedure. We observed that duraplasty at primary or at redo PFD provides for better decompression and long-term outcome. However, one should keep it in mind that there is risk of CSF-related complications following duraplasty, particularly higher tendency after redo PFD.

Adult Chiari Type 1 Malformation with Holocord Syringomyelia Associated with Sagittal Synostosis.

Craniosynostosis associated with Chiari malformation (CM) is usually found in infants with an underdeveloped posterior fossa. We here present a case of adult craniosynostosis, CM, and symptomatic syringomyelia caused by the protrusion of the posterior rim of the foramen magnum without a tight posterior fossa. A 22-year-old woman with an abnormal head shape and forearm hypesthesia was given a diagnosis of sagittal suture synostosis with CM and syringomyelia caused by foramen magnum stenosis. She underwent foramen magnum decompression with a C1 laminectomy without cranial vault expansion or duraplasty. Her symptoms and radiographical findings improved after surgery. In cases of non-operative craniosynostosis with CM, clinicians should be alert to late-onset syringomyelia and choose surgical strategies according to the pathophysiology.

Traumatic Transient Herniation Concomitant with Tonsillar Hemorrhagic Contusion in a Child.

Downward displacement of cerebellar tonsils more than 5 mm below the foramen magnum is named as Chiari type I malformation and named benign tonsillar ectopia if herniation is less than 3 mm. It does not just depend on congenital causes. There are also some reasons for acquired Chiari Type 1 and benign tonsillar ectopia/herniation. Trauma is one of them. Trauma may increase tonsillar ectopia or may be the cause of new-onset Chiari type 1. The relationship between the tonsil contusion and its position is unclear. We present a case of pediatric age group with tonsillar herniation with a hemorrhagic contusion. Only 1 case has been presented so far in the literature. A case with unilateral tonsil contusion has not been presented to date. We will discuss the possible reasons for taking the place of the tonsils to the above level of the foramen magnum in the follow-up period, by looking at the literature.

Chiari Type 1 Malformation-induced Intracranial Hypertension with Diffuse Brain Edema Treated with Foramen Magnum Decompression: A Case Report.

Chiari type 1 malformation (CM1) rarely causes papilloedema, which is indicative of high intracranial pressure with or without ventricular dilatation. Furthermore, concomitant brain parenchymal abnormalities have not been reported to date. In this paper, the authors report on a young woman of CM1-induced intracranial hypertension (ICH) with diffuse brain edema with a focus on venous sinus assessment, and discuss the surgical strategy. A 24-year-old woman presented to Nagoya University Hospital complaining of 4-year history of severe occipital headache and blurry vision with slowly progressive worsening. Head and whole spine MRI showed a CM1 with diffuse white matter hyperintensities (WMH) on T2-weighted imaging and narrowed brain sulci without hydrocephalus. Lumbar puncture revealed extremely high opening pressure. Detailed blood examination and other radiographical imaging studies denied the presence of tumor, collagen disease, encephalitis and other entities. Head magnetic resonance venography and angiography demonstrated severe transverse sinus stenosis on both sides. Foramen magnum decompression was performed to alleviate the ICH by restoration of cerebrospinal fluid (CSF) stagnation at the foramen magnum with successful outcome. The patient completely recovered from preoperative symptoms immediately after surgery. The diffuse WMH and narrowing brain sulci have been resolving. The most feasible explanation for this complicated pathophysiology was ICH induced by CM1 led to transverse sinus collapse, resulting in diffuse WMH as a result of venous hypertension. This case report is the first illustration of successful surgical treatment of CM1 with diffuse brain edema with a focus on venous sinus assessment.

Closing the dura: dural hitching versus surgicel and tisseel overlay graft in craniocervicaldecompression for Chiari 1 malformation.

BACKGROUND: This study compares dural hitching to surgicel and tisseel overlay graft following craniocervical decompression and C1 laminectomy with simple durotomy for Chiari I malformation. Outcome measures were syrinx decompression, headache resolution and complication rates. METHODS: A retrospective analysis of case notes was conducted. Patients who had undergone craniocervical decompression (CCD) were grouped by method of dural closure. Outcomes compared were rates of syrinx decompression, headache resolution, and post-operative complications. Statistical analysis was conducted using SPSS v20. RESULTS: We identified 32 adult patients for inclusion in this study. 53.1% (n = 17) had asyrinx, and 78.1% (n = 25) had a pre-operative headache. All were treated with suboccipital craniectomy, C1 laminectomy (with or without C2 laminectomy), and durotomy. The dura was either left open by dural hitching (n = 23) or closed with surgicel and tisseel overlay graft (n = 9). We found a statistically significant association between the method of dural closure and the rate of syrinx resolution. Resolution occurred in 91.7% (n = 11) of the hitching group, compared to 20.0% (n = 1) of the overlay graft group: Χ2(1) = 5.6, p = .018. There were no statistically significant differences between the two groups in the rates of headache resolution or other complications. CONCLUSIONS: In patients with symptomatic Chiari I malformation and associated syringomyelia, syrinx resolution is more likely if the dura is hitched open rather than closed bysurgicel and tisseel overlay graft after durotomy.