Chiari Malformation Research Articles

Patient and caregiver perceptions of Chiari malformation: a qualitative analysis of online discussion boards.

Patients and their caregivers utilize online discussion board forums as a means to seek and exchange information about their or a loved one's condition. It is important for providers to be aware of such concerns and experiences. The goal of this study was to identify the primary concerns expressed on these discussion boards regarding Chiari malformation type I (CM) and to help guide clinicians in understanding patient challenges in the treatment of CM. The authors performed thematic analysis of anonymous online discussion board posts as identified through internet search engines. They then adopted a previously developed grounded theory method that utilizes a three-tiered coding and grouping process of posts based on commonly discovered content themes. Analysis of 400 discussion board posts identified four distinct themes raised by CM patients and their caregivers: the path to diagnosis, symptoms experienced, surgical intervention, and high emotional burden. Although each individual experience was unique, the path toward a CM diagnosis was expressed as a journey involving multiple physicians, alternative diagnoses, and feelings of dismissal from providers. The most common reported symptoms included dizziness, headaches, neck and back pain, sensory issues, weakness and paresthesias of the extremities, speech issues, and general fatigue. Additionally, there was an overall sense of uncertainty from patients seeking advice regarding surgical intervention, with users expressing diverse sentiments that included both positive and negative outcomes regarding surgical treatment. Lastly, a wide range of emotions was expressed related to a CM diagnosis, including concern, worry, anxiety, depression, stress, fear, and frustration. CM is a frequent imaging diagnosis identified in patients presenting with a wide range of symptoms, and as a result this leads to a diverse set of patient experiences. Analysis of CM patient and caregiver discussion boards revealed key themes that clinicians may address when counseling for CM.

Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.

Rauch-Steindl syndrome (RAUST) is a very rare genetic syndrome caused by a pathogenic variant in NSD2 on chromosome 4p16.3. Although NSD2 was previously thought to be the major gene in Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome of chromosome 4p16.3 deletion, RAUST has been found to present different facial and clinical features from WHS. In this study, we report the details of two newly diagnosed individuals with RAUST in order to better understand the molecular and clinical features of RAUST. Whole-genome sequencing was performed on two individuals with psychomotor delay and growth failure. Detailed clinical evaluation of growth parameters, craniofacial features, electroencephalogram (EEG), magnetic resonance imaging of the brain, and developmental assessment were performed. Both individuals had de novo truncating variants in NSD2. One had a novel variant (c.2470C>T, p.Arg824*), and the other had a recurrent variant (c.4028del, p.Pro1343Glnfs*49). Both exhibited characteristic RAUST facial features, growth failure, and mild psychomotor delay. A novel finding of RAUST was seen in individual 2, a Chiari malformation type 1, and both showed delayed bone age. They lacked common WHS features such as congenital heart defects, cleft lip/palate, and seizures (EEG with abnormal findings). We present a novel variant and clinical presentations of RAUST, expand the molecular and clinical diversity of RAUST, and improve our understanding of this rare syndrome, which is distinct from WHS. Further researches are needed on more RAUST cases and on functional analysis of NSD2.

Evaluation of in patients with sleep related breathing disorders Arnold-Chiari Malformation type 1, before and after surgical treatment

Evaluation of in patients with sleep related breathing disorders Arnold-Chiari Malformation type 1, before and after surgical treatment

A Rare Case of Cornelia De Lange Syndrome

An 8-year-old female child was referred to our Cleft and Craniofacial centre, Department of Plastic & Reconstructive Surgery, Saveetha Medical College & Hospital, after being diagnosed with cleft palate and hyper nasal speech. She is the first child born from a non- consanguineous marriage with a birth weight of 2.6 kg. Following her, a girl and a boy were born and exhibited no apparent abnormalities. Both parents maintain a normal status, and there is no history of deformities in their family lineage. The patient underwent a typical vaginal delivery and was born at full term. At the time of birth, the child was differentially diagnosed with a neurogenic tumour in the occipital region of the skull. The child was not treated for the growth in the occiput. Patient had growth retardation, global developmental delays and features of facial dysmorphism like microcephaly, bushy and uni eyebrow, long eyelashes, low set ears, small nose, concave nasal bridge, and hirsutism. The child was subjected to an MRI brain scan in our unit and it suggested a hyperechoic lesion in the midline at C3, C4 level with an impression of Arnold Chiari malformation. Clinically, on palpation of the lesion, it approximately measured 4x3 cm, soft in consistency and the lesion hardened while coughing or sneezing and regressed back to normalcy within a few minutes. USG abdomen was done and a well-defined hypoechoic dumbbell shaped bilobed solid lesion with smooth margins with no significant vascularity was noted in the gastrohepatic region. Echocardiogram was done and it ruled out cardiac anomalies like patent ductus arteriosus or coarctation of aorta. Inspection of the oral cavity was done to diagnose the cleft of the secondary palate. (Fig. 1) Based on all features in examination and investigation, a diagnosis of Cornelia de Lange syndrome was made. The surgery was planned after a routine blood workup. The child was advised for CECT of abdomen to confirm the USG findings of abdominal anomalies, however, the report suggested cystic lymphangioma. (Fig. 2) Fitness for palatoplasty surgery was obtained from paediatrician, paediatric surgeon, neurosurgeon, cardiologist and anaesthesiologist. Under antibiotic cover, the child was operated under general anaesthesia for palatoplasty by Sommerlad’s technique. (Fig. 3 & 4) The post-operative period was uneventful.

Clinical Relevance of Painful Congenital Early-onset Scoliosis: A Magnetic Resonance Image-based Study.

Back pain, as a clinical marker in scoliosis, has been associated with underlying pathology for many years, warranting further magnetic resonance imaging (MRI). Failures of segmentation, mixed defects, female gender, rib anomalies, congenital thoracic anomalies, and neurocutaneous markers are known risk factors for abnormal MRI pathology findings in patients with congenital early-onset scoliosis (Congenital-EOS). Yet, back pain has not been evaluated as a risk factor for underlying MRI pathology in patients with Congenital-EOS. This study aimed to assess back pain as a risk factor for underlying pathology in Congenital-EOS using MRI as a diagnostic tool. A retrospective database review from the Pediatric Spine Study Group (PSSG) of all patients with Congenital-EOS who reported a back pain complaint, and underwent a spinal MRI study before surgical intervention was performed. Patients were divided into those with an underlying MRI pathology and those without. Demographics were compared between groups. From a total of 2355 patients with Congenital-EOS registered in PSSG, 107 patients reported a back pain complaint, with only 42 patients fulfilling the inclusion criteria (being evaluated with an MRI study). Overall group mean age was 8.1±4.5 years, with 25 of the 42 patients (60%) being females. Twenty-four of 42 patients (57%) had a comorbidity reported such as cardiac problems, musculoskeletal complaints, neurological deficits/myelopathy, gastrointestinal symptoms, developmental delay, respiratory problems, craniofacial abnormalities, and chromosomal conditions. An underlying MRI pathology was found in 21 of 42 patients with Congenital-EOS (50%) with back pain. The underlying MRI pathologies found were tethered spinal cord, spinal canal stenosis, syringomyelia, Arnold-Chiari malformation, and arachnoid cyst. Abnormal MRI findings are common in patients with Congenital-EOS who report back pain. Gender, age, major coronal curve angle, thoracic or lumbar predominance deformity, and comorbidities type or amount were not associated with abnormal MRI findings. Level II-Prognostic study.

Pulsatile microvascular cerebral blood flow waveforms change with intracranial compliance and age.

Diffuse correlation spectroscopy (DCS) is an optical method to measure relative changes in cerebral blood flow (rCBF) in the microvasculature. Each heartbeat generates a pulsatile signal with distinct morphological features that we hypothesized to be related to intracranial compliance (ICC). We aim to study how three features of the pulsatile rCBF waveforms: the augmentation index (AIx), the pulsatility index, and the area under the curve, change with respect to ICC. We describe ICC as a combination of vascular compliance and extravascular compliance. Since patients with Chiari malformations (CM) () have been shown to have altered extravascular compliance, we compare the morphology of rCBF waveforms in CM patients with age-matched healthy control (). AIx measured in the supine position was significantly less in patients with CM compared to healthy controls (). Since physiologic aging also leads to changes in vessel stiffness and intravascular compliance, we evaluate how the rCBF waveform changes with respect to age and find that the AIx feature was strongly correlated with age (, , and , ). These results suggest that the AIx measured in the cerebral microvasculature using DCS may be correlated to changes in ICC.

Morphological and ultrastructural investigation of the posterior atlanto-occipital membrane: Comparing children with Chiari malformation type I and controls.

The fibrous posterior atlanto-occipital membrane (PAOM) at the craniocervical junction is typically removed during decompression surgery for Chiari malformation type I (CM-I); however, its importance and ultrastructural architecture have not been investigated in children. We hypothesized that there are structural differences in the PAOM of patients with CM-I and those without. In this prospective study, blinded pathological analysis was performed on PAOM specimens from children who had surgery for CM-I and children who had surgery for posterior fossa tumors (controls). Clinical and radiographic data were collected. Statistical analysis included comparisons between the CM-I and control cohorts and correlations with imaging measures. A total of 35 children (mean age at surgery 10.7 years; 94.3% white) with viable specimens for evaluation were enrolled: 24 with CM-I and 11 controls. There were no statistical demographic differences between the two cohorts. Four children had a family history of CM-I and five had a syndromic condition. The cohorts had similar measurements of tonsillar descent, syringomyelia, basion to C2, and condylar-to-C2 vertical axis (all p>0.05). The clival-axial angle was lower in patients with CM-I (138.1 vs. 149.3 degrees, p = 0.016). Morphologically, the PAOM demonstrated statistically higher proportions of disorganized architecture in patients with CM-I (75.0% vs. 36.4%, p = 0.012). There were no differences in PAOM fat, elastin, or collagen percentages overall and no differences in imaging or ultrastructural findings between male and female patients. Posterior fossa volume was lower in children with CM-I (163,234 mm3 vs. 218,305 mm3, p<0.001), a difference that persisted after normalizing for patient height (129.9 vs. 160.9, p = 0.028). In patients with CM-I, the PAOM demonstrates disorganized architecture compared with that of control patients. This likely represents an anatomic adaptation in the presence of CM-I rather than a pathologic contribution.

Retroflexed dens in paediatric Chiari 1 patients and implications: Single centre retrospective study.

Chiari 1 malformation and hind brain hernia can be associated with skull base and craniocervical anomalies. One of the more recently associated anomalies is a retroverted or retroflexed odontoid process or dens. We conducted a retrospective study of our operated symptomatic and conservatively managed asymptomatic Chiari cohort to assess the impact of dens retroflexion on rate of revision or cerebrospinal fluid diversion following primary foramen magnum decompression (FMD). We undertook a retrospective study of all foramen magnum decompression (FMD) cases for Chiari type 1 malformation performed over a 15-year period in a single tertiary paediatric neurosurgical unit. For comparison, non-operated asymptomatic Chiari cases were considered as reference cohort.Information gathered included: demographics, age, sex, length of cerebellar tonsils below McRae's line, pB-C2 distance (a line drawn perpendicular to one drawn between the basion and the posterior aspect of the C2 body), angle of retroflexion (angle formed between a line drawn through the odontoid synchondrosis and its intersection with a line drawn from the tip of the odontoid process) and angle of retroversion (angle formed between the line drawn from the base of C2 and its intersection with a line drawn from the tip of the odontoid process). Grade of retroflexion was measured using pre-operative mid-sagittal MR images and classified as grade 0 (> 90°), grade 1 (85°-89°); grade 2 (80°-84°) and grade 3 (< 80°). The rates for redo surgery or need for cerebrospinal fluid (CSF) diversion were obtained from clinical records and compared in the operated and non-operated groups. One hundred twenty-six Chiari 1 patients were included in this study with adequate imaging. Sixty-five patients were in the non-operated asymptomatic cohort with 61 patients in the operated symptomatic cohort.Mean age of non-operated cohort was 10.2years with M:F ratio (30:35). Mean cerebellar tonsillar length below McRae's line was 10.3mm. 7.7% of this cohort had associated syrinx. Mean angles of retroversion and retroflexion were 76 and 78°, respectively. Retroflexion grades included (9.2% grade 1, 35% grade 2 and 52.3% grade 3). pB-C2 distance was 6.8mm. Mean age of operated cohort was 11.3years, with M:F ratio (21:40). Mean cerebellar tonsillar length below McRae's line was 15mm. 45.9% of this cohort had associated syrinx. Mean angles of retroversion and retroflexion were 73 and 74.5°, respectively. Retroflexion grades included (4.9% grade 1, 16.5% grade 2 and 78.6% grade 3). pB-C2 distance was 6.9mm. No association was identified between retroflexion grade and rate of revision or CSF diversion following primary foramen magnum decompression. The operated Chiari 1 cohort had more retroflexed dens, longer tonsils and associated syrinx compared to the non-operated asymptomatic cohort.

Optic neuropathy in craniosynostosis.

Craniosynostosis (CS) or the premature fusion of one or more cranial sutures in utero, or during the first years of life, can present in isolation or as a multisystem clinical disorder with a particular impact on visual function. Among ophthalmic complications, optic neuropathy is a significant cause of irreversible vision loss in these patients. Children with CS are at higher risk of developing elevated intracranial pressure which can lead to papilledema and, ultimately, optic atrophy. In addition, sometimes associated obstructive sleep apnea, abnormalities in central nervous system venous development, and Chiari malformation may contribute to optic neuropathy. Ophthalmologists have an important role in managing a number of coexistent ophthalmologic complications such as strabismus, anisometropia, amblyopia, ptosis, and exposure keratopathy in addition to maintaining surveillance for early signs of optic neuropathy; they play a critical consultative role contributing to the decision for primary or repeat decompressive surgery. In this article, we aim to review the etiology, diagnostic approach, and management of optic neuropathies in patients with craniosynostosis.

Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion

Craniocervical instability (CCI) is increasingly recognized in hereditary disorders of connective tissue and in some patients following suboccipital decompression for Chiari malformation (CMI) or low-lying cerebellar tonsils (LLCT). CCI is characterized by severe headache and neck pain, cervical medullary syndrome, lower cranial nerve deficits, myelopathy, and radiological metrics, for which occipital cervical fusion (OCF) has been advocated. We conducted a retrospective analysis of patients with CCI and Ehlers-Danlos syndrome (EDS) to determine whether the surgical outcomes supported the criteria by which patients were selected for OCF. Fifty-three consecutive subjects diagnosed with EDS, who presented with severe head and neck pain, lower cranial nerve deficits, cervical medullary syndrome, myelopathy, and radiologic findings of CCI, underwent open reduction, stabilization, and OCF. Thirty-two of these patients underwent suboccipital decompression for obstruction of cerebral spinal fluid flow. Questionnaire data and clinical findings were abstracted by a research nurse. Follow-up questionnaires were administered at 5–28 months (mean 15.1). The study group demonstrated significant improvement in headache and neck pain (p < 0.001), decreased use of pain medication (p < 0.0001), and improved Karnofsky Performance Status score (p < 0.001). Statistically significant improvement was also demonstrated for nausea, syncope (p < 0.001), speech difficulties, concentration, vertigo, dizziness, numbness, arm weakness, and fatigue (p = 0.001). The mental fatigue score and orthostatic grading score were improved (p < 0.01). There was no difference in pain improvement between patients with CMI/LLCT and those without. This outcomes analysis of patients with disabling CCI in the setting of EDS demonstrated significant benefits of OCF. The results support the reasonableness of the selection criteria for OCF. We advocate for a multi-center, prospective clinical trial of OCF in this population.

Analysis of the Cranial Aperture of the Optic Canal in Patients with Chiari Type-I Malformation.

To examine the morphological properties of the cranial aperture of the optic canal (CAOC) in patients with a Chiari type-I malformation (CIM). Radiological images of 40 patients with CIM (24 females/16 males, mean age: 20.75 ± 14.98 years) and 40 normal individuals (24 females/16 males, mean age: 23.13 ± 18.89 years) were included in the study to assess the anatomical features of CAOC. The CAOC width (p=0.137), CAOC height (p=0.243), distance between the CAOC and the midsagittal line (p=0.982), and angle of the optic canal in the sagittal plane (Ang-in-SP) (p=0.598) were similar in patients with CIM and in the controls. The distances between the CAOC and the anterior (Dis-to-AB) and lateral (Dis-to-LB) boundaries of the anterior skull base were smaller in patients with CIM than in the controls (p < 0.01). However, the angle of the optic canal in the axial plane (Ang-in-AP) was greater in patients with CIM than in the controls. Four different aperture shapes were identified in the CIM group (teardrop, n=42 [52.40%]; triangular, n=17 [21.30%]; oval, n=9 [11.30%]; and round, n=12 [15%]) and in the control group (teardrop, n=36 [45%]; triangular, n=14 [17.50%]; oval, n=10 [12.50%]; and round, n=20 [25%]). A greater Ang-in-AP and shorter Dis-to-LB and Dis-to-AB were found in patients with CIM than in the healthy controls. The distance measurements demonstrate that patients with CIM have a shorter and narrower anterior fossa than normal individuals.

Clinical analysis of atlanto-occipital decompression in the management of chiari malformation with multi-segmental syringomyelia.

Chiari malformation type I with syringomyelia (CM-I-S) is a very common disease in neurosurgery. There are also various surgical methods. But it is controversial. There are few reports about children, especially the treatment of multi-segmental beaded syringomyelia. The purpose of this study was to explore the clinical effects of atlanto-occipital decompression (AOD) in the management of Chiari malformation type I (CM-I) with multi-segmental beaded syringomyelia (MSBS) in pediatric patients. This retrospective study were pediatric patients with CM-I combined with MSBS who were treated in our hospital from January 2015 to December 2023. The patients who received the AOD treatment were screened according to inclusion and exclusion criteria. Outcomes were assessed by comparison of pre- and postoperative clinical, Chicago Chiari Outcome Scale (CCOS), the diameter and volume of the syringomyelia, morphological parameters of posterior cranial fossa (cervical spinal cord angle of medulla oblongata, CSC-MO) and complications in the enrolled children. This study ultimately included 21 eligible pediatric patients with CM-I and MSBS. All the patients successfully completed the operation, which consists of atlanto-occipital decompression, partial resection of the posterior arch of the atlas, electrocoagulation of the cerebellar tonsil, pseudomembrane resection of the central canal orifice (latch) of the spinal cord, and artificial dura mater expansion repair. No death, no relapses, no serious neurological dysfunction and other complications. At the last follow-up, the clinical symptoms of all patients basically disappeared. The results of magnetic resonance imaging (MRI) showed that the average preoperative cerebellar tonsillar hernia was 12.4 ± 4.6 mm, and the postoperative were all above the foramen magnum. The average preoperative syringomyelia volume was 11.7 ± 3.7 cm2, and the syringomyelia disappeared or significantly shrunk after operation, with the volume unable to be accurately measured. The median preoperative CSC-MO was 132.5°, and the median postoperative CSC-MO was 150°, with a significant difference. The median preoperative pain and non-pain score of CCOS was 4 and 3 respectively. The symptoms disappeared after operation, and the score was 4. Only 5 children had cerebrospinal fluid leakage. The AOD is safe and effective in CM-I with MSBS in pediatric patients. Pseudomembrane resection of the central canal orifice (latch) of the spinal cord is crucial for the treatment of syringomyelia.

Evaluation and Treatment of Patients with Small Posterior Cranial Fossa and Chiari Malformation, Types 0 and 1.

The diagnosis of Chiari I malformation is straightforward in patients with typical signs and symptoms of Chiari I malformation and magnetic resonance imaging (MRI) confirming ≥5 mm of cerebellar tonsillar ectopia, with or without a syrinx. However, in many cases, Chiari I malformation is discovered incidentally on MRI to evaluate global headache, cervical radiculopathy, or other conditions. In those cases, the clinician must consider if cerebellar tonsillar ectopia is related to the presenting symptoms. Surgical decompression of the cerebellar tonsils and foramen magnum in patients with symptomatic Chiari I malformation effectively relieves suboccipital headache, reduces syrinx distension, and arrests syringomyelia progression. Neurosurgeons must avoid operative treatments decompressing incidental tonsillar ectopia, not causing symptoms. Such procedures unnecessarily place patients at risk of operative complications and tissue injuries related to surgical exploration. This chapter reviews the typical signs and symptoms of Chiari I malformation and its variant, Chiari 0 malformation, which has <5 mm of cerebellar tonsillar ectopia and is often associated with syringomyelia. Chiari I and Chiari 0 malformations are associated with incomplete occipital bone development, reduced volume and height of the posterior fossa, tonsillar ectopia, and compression of the neural elements and cerebrospinal fluid (CSF) pathways at the foramen magnum. Linear, angular, cross-sectional area, and volume measurements of the posterior fossa, craniocervical junction, and upper cervical spine identify morphometric abnormalities in Chiari I and Chiari 0 malformation patients. Chiari 0 patients respond like Chiari I patients to foramen magnum decompression and should not be excluded from surgical treatment because their tonsillar ectopia is <5 mm. The authors recommend the adoption of diagnostic criteria for Chiari 0 malformation without syringomyelia. This chapter provides updated information and guidance to the physicians managing Chiari I and Chiari 0 malformation patients and neuroscientists interested in Chiari malformations.

Disfagia orofaríngea na malformação de Chiari tipo I: série de casos clínicos

ABSTRACT Type I Chiari malformation (MCI) is a generally congenital condition of herniation of the cerebellar tonsils below the foramen magnum, which can lead to compression of structures close to the posterior cranial fossa or obstruction of the flow of ventral cerebrospinal fluid. Type I, although rare, is the most commonly found in the population. This study aimed to report the findings of video endoscopy of swallowing, speech assessment, level of oral intake, nutritional risk and therapeutic planning in three cases of Type I Chiari malformation. Data were collected regarding the assessment of mobility and strength of tongue, Maximum Phonation Time (MPT), cough efficiency and the Eichner Index. The level of oral intake and pharyngeal signs of dysphagia were analyzed in four food consistencies, according to the International Dysphagia Diet Standardization Initiative (IDDSI) classification, using swallowing video endoscopy. For analysis and classification of pharyngeal residues, the Yale Pharyngeal Residue Severity Rating Scale (YPRSRS) was used, while the Malnutrition Screening Tool (MST) was used to track nutritional risk. Reduced tongue mobility and strength and reduced MPT were observed, while pharyngeal signs varied between cases, with the presence of incomplete glottic closure, posterior oral escape, multiple swallows, pharyngeal residues and laryngeal penetration.

Опросник клинической симптоматики мальформации Киари: перспективы применения у взрослых пациентов в Республике Татарстан

The clinical symptoms of Chiari malformation type 1 (CM1) are formed as a result of a combination of traction, compression, and occlusive processes in patients with a small volume of the posterior cranial fossa and dislocation of the cerebellar tonsils and are characterized by a wide variety combined with low specificity. This complicates the clinical diagnosis of this pathology, assessment of its severity and dynamics. Currently, the only clinical symptoms questionnaire designed specifically for patients with СM1 is the Chiari Symptom Profile (CSP), created by D.M. Muller and J.J. Oro and tested on an English-speaking cohort of adult patients. The Republic of Tatarstan is one of the regions of the Russian Federation with an increased incidence of СM1 and СM1-associated syringomyelia, which determines the relevance of studying the clinical symptoms of СM1 and searching for methods of early clinical diagnosis of this pathology. The purpose of this work was to determine the prospects of using the CSP questionnaire in adult CM-patients with Chiari malformation in the Republic of Tatarstan. As a result of the standard procedure of translation, adaptation and approbation, versions of the questionnaire were created in the Russian and Tatar languages. Validation showed their reliability and discriminant validity.

Anaesthetic Challenges and Perioperative Management of Arnold Chiari Malformation Type 1: A Case Report

Arnold Chiari Malformation (ACM) is a group of deformities of the cranium and hindbrain, where there is herniation of cerebellar tonsils through the foramen magnum. Based on the morphology and degree of anatomic defects, Chiari malformations are categorised as type 1, 2, and 3, usually through imaging. While type 2 and 3 are more prevalent and occur in younger age groups, being present from birth, type 1 Chiari is the least severe and is more frequently found in adults. Numerous deformities, including spinal deformity, encephalocele, hydrocephalus, syrinx, and elevated intracranial pressure, are associated with it. Additionally, there are autonomic disturbances associated with it as well. As a result of all these factors, anaesthesiologists face significant challenges. Hereby, the authors present a case report of 52-year-old male patient of ACM type 1 associated with bony deformity at the craniovertebral junction and syrinx, who underwent cervical decompression with C1-C2 fixation. This patient had a tingling sensation and numbness in the left upper limb, with power in the left upper limb being 1/5 and progressive gait abnormalities. Additionally, the present patient had his right upper limb amputated below the elbow joint after a road traffic accident 10 years ago, which imposed more challenges regarding intravenous access. A well-thought-out, multidisciplinary approach is needed for its management. The management of adequate intraoperative anaesthesia in such cases will have an impact on the recovery after surgery of patients with ACM type 1.

Small pituitary volume and central nervous system anomalies in Fanconi Anemia.

Fanconi anemia (FA) is a genomic instability disorder associated with congenital abnormalities, including short stature and the presence of central nervous system anomalies, especially in the hypothalamic-pituitary area. Thus, differences in pituitary size could associate with the short stature observed in these patients. Our aim was to evaluate whether central nervous system abnormalities and pituitary gland volume correlate with height and hormone deficiencies in these patients. In this cross-sectional exploratory study 21 patients diagnosed with FA between 2017 and 2022 in a Spanish Reference Center were investigated. Magnetic resonance imaging (MRI) was performed and pituitary volume calculated and corelated with height and other endocrine parameters. The percentage of abnormalities in our series was 81%, with a small pituitary (pituitary volume less than 1 SD) being the most frequent, followed by Chiari malformation type 1. The median value of pituitary volume was -1.03 SD (IQR: -1.56, -0.36). Short stature was found in 66.7% [CI95% 43-85.4]. Total volume (mm3) increases significantly with age and in pubertal stages. There were no differences between volume SD and pubertal stage, or the presence of endocrine deficiencies. No correlations were found between pituitary volume and the presence of short stature. The intraclass correlation index (ICC) average for volume was 0.85 [CI95% 0.61-0.94] indicating a good-to-excellent correlation of measurements. Central nervous system anomalies are part of the FA phenotype, the most frequent after pituitary hypoplasia being posterior fossa abnormalities, which may have clinical repercussions in the patient. It is therefore necessary to identify those who could be candidates for neurosurgical intervention. The size of the pituitary gland is smaller in these patients, but this does not seem to be related to hormone deficiency and short stature or exposure to a low dose of total body irradiation.

Does Cerebrospinal Fluid Flow Imaging Aid Decision Making for Surgical Decompression in Chiari Malformation Type 1: Comparison of Symptoms Using Modified Rankin Scores

Does Cerebrospinal Fluid Flow Imaging Aid Decision Making for Surgical Decompression in Chiari Malformation Type 1: Comparison of Symptoms Using Modified Rankin Scores

Median Nerve Somatosensory Evoked Potentials in Patients with Chiari Malformation

Median Nerve Somatosensory Evoked Potentials in Patients with Chiari Malformation

Complication Avoidance in Chiari Malformation Surgery.

Posterior fossa decompression for symptomatic Chiari malformation is an effective and frequently performed procedure, but it does carry risks of significant complications including cerebrospinal fluid leak and craniocervical instability. Patients sometimes do not improve or worsen after decompression, which may discourage neurosurgeons from performing Chiari decompression surgery. In this chapter, management strategies and surgical approaches are discussed that minimize the risks of complications and maximize favorable outcomes in Chiari malformation surgery.