Chiari Malformation Research Articles

Coexistence of Neurodevelopmental Disorders (ASD, ADHD) and Neurological Malformations: A Case Study

Introduction: The association of neurodevelopmental disorders and neurological malformations in children is a complex and relatively under-documented phenomenon. Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) can coexist with structural anomalies such as Chiari malformation type 1 (CM-I) and primitive empty sella syndrome (primary ESS). This co-occurrence raises important questions about pathophysiological mechanisms, diagnostic challenges, and therapeutic approaches. We propose to explore this issue through this clinical case. Case Report: We report here the case of a 6-year-old boy, followed in child psychiatry since the age of 3 for ASD. The child presents with language disorder, lack of pointing and gaze fixation, hyperactivity, agitation crises, and sleep disturbances. Brain imaging revealed CM-I and primary ESS. Discussion: Several hypotheses regarding the links between neurological malformations and neurodevelopmental disorders are discussed in the light of the literature, explaining the role of the cerebellum, associated structures, and cerebral hemispheres in the pathophysiology of neurodevelopmental disorders such as ADHD and ASD. Conclusion: The coexistence of neurological malformations, notably CM-I and primary ESS, and neurodevelopmental disorders such as ASD and ADHD is still under-documented in the literature. Further studies are necessary for a better understanding of these links, which could shed light on the etiopathogenesis of these complex cases, to ensure better management of these children and improve their quality of life.

Giant encephalocele in newborns: prenatal diagnosis, management and outcome.

A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes. Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III. These seven cases were included in the study, and their medical records were reviewed retrospectively to assess clinical, radiological, surgical, and postoperative follow-up data. Seven newborns with giant occipital encephalocele and Chiari malformation type III were treated at our institution, including five females and two males. All cases were diagnosed prenatally via ultrasound, and none of the mothers had taken folic acid regularly. Six infants underwent surgical resection with duroplasty within 48 h, achieving good outcomes. The seventh infant, with respiratory difficulties, hypotonia, and large ventricular septal defect(VSD), was unfit for surgery and passed away at two weeks. Long-term follow-up up to 24 months showed all surviving infants met developmental milestones, though mild delays in walking, speech, and unsteady gait were noted. Giant encephalocele with Chiari malformation is a rare condition that requires a multidisciplinary approach for effective management. Unlike smaller encephaloceles, giant ones may have a better prognosis due to the large volume of cerebrospinal fluid (CSF) in the herniated sac, which helps prevent further neural tissue herniation. Prenatal diagnosis is essential, and folic acid supplementation should be encouraged. Early surgical intervention is crucial for optimal outcomes.

Incidence of idiopathic syrinx in pediatric patients diagnosed with VACTERL association.

While the association of a syrinx with a tethered spinal cord in the context of VACTERL (vertebral defects [V], imperforate anus or anal atresia [A], cardiac malformations [C], tracheoesophageal defects [T] with or without esophageal atresia [E], renal anomalies [R], and limb defects [L]) association is known, the incidence of idiopathic syrinxes among these patients has not previously been reported. The authors aimed to characterize the incidence of syrinxes and the pattern of congenital anomalies in pediatric patients with VACTERL association, with a specific focus on the presence of idiopathic syrinxes in this population. An institutional database was retrospectively queried for all pediatric patients with VACTERL association. Patients were assessed for the presence of a syrinx. Those with no accompanying lesion to which the syrinx could be ascribed were designated idiopathic. Descriptive statistics and qualitative analyses characterized the clinical presentation and outcomes of this population. The authors retrospectively identified 186 patients between 1993 and 2023 with VACTERL association. Of these 186 patients, 141 (75.8%) had a tethered spinal cord and 44 (23.7%) had a syrinx. Most syrinxes could be ascribed to the presence of a tethered spinal cord and/or Chiari malformation; however, 4 (9.1%) of the 44 appeared idiopathic, suggesting the incidence of idiopathic syrinxes in this patient population may be as high as 2.2% (4/186). Most patients remained asymptomatic aside from a single patient who presented with mild gait dysfunction that resolved over time. All syrinxes were managed conservatively, and all but one decreased or remained stable in size on follow-up imaging. Although limited, current estimates suggest the general incidence of an idiopathic syrinx is between 5.6 and 8.4 per 100,000 people; these findings in a pediatric cohort with VACTERL association suggest an incidence of 2200 per 100,000 (i.e., 2.2%). Thus, an idiopathic syrinx may be 200-400 times as prevalent in the pediatric VACTERL population.

A Literature Review on Arnold-Chiari Disease in Children (Evaluation of Surgical Approach and Post-Surgical Management)

Arnold-Chiari (AC) disease in children is a complex congenital condition requiring multidisciplinary management. Surgical intervention is often necessary to correct affected anatomy and alleviate symptoms, yet post-surgical management is also crucial. This literature review aims to investigate surgical approaches and post-surgical management of AC in children, as well as identify remaining knowledge gaps. Literature search was systematically conducted through PubMed using relevant keywords. Inclusion criteria encompassed studies within the past 15 years pertaining to pediatric neurosurgery and Chiari. The literature review identified 6 relevant studies highlighting the importance of intraoperative electrophysiological monitoring, comparison of outcomes between posterior decompression with and without duraplasty, correlation of CSF flow with surgical outcomes, post-operative pain management, and indications for syringosubarachnoid shunt placement. Surgical intervention for AC in children is a critical step, yet meticulous post-surgical management is required. Studies highlight knowledge gaps regarding long-term effects of intraoperative monitoring techniques, outcome comparisons between surgical procedures, the relationship between CSF flow and surgical outcomes, and post-operative pain management. Cross-disciplinary collaboration and emphasis on a holistic approach are necessary to enhance understanding and care of AC in children.

Sports after single-suture synostosis surgery: a survey of Synostosis Research Group members.

Patients with a history of surgery for single-suture craniosynostosis (SSC) as an infant often wish to participate in sports later in childhood. However, there are no established guidelines from neurosurgeons and craniofacial surgeons to guide parents in which sports their child should or should not participate. Therefore, this study aimed to evaluate the attitudes and practice patterns of experienced neurosurgeons and craniofacial surgeons regarding the counseling of caregivers of these patients about sports participation. A survey was administered to neurosurgeons and craniofacial plastic surgeons of the Synostosis Research Group (SynRG), a group of 9 North American institutions, to identify attitudes toward sports participation in patients with past SSC surgery. Survey responses were collected anonymously in REDCap. Questions regarding specific sports participation recommendations for patients who underwent surgery as an infant for SSC with ideal healing and for those who required a delayed cranioplasty were answered. Questions pertained to patients with nonsyndromic SSC without associated Chiari malformation, syrinx, or other intracranial/intraspinal anomalies. Overall, 20 surgeons were invited to participate in the survey, with 18 (90%) (9 neurosurgeons and 9 craniofacial plastic surgeons) fully completing it. Only 1 (5.6%) surgeon counseled against any sports participation for patients with ideal healing. If cranioplasty was required, 39%-50% of surgeons counseled against some participation (most commonly restricting football/rugby, boxing, ice hockey, lacrosse, and wrestling), depending on the extent of the cranioplasty. Overall, more plastic surgeons (56%-67%) counseled against sports participation (including lower-contact sports such as baseball/softball, basketball, gymnastics, and soccer) than neurosurgeons (22%-33%) in patients who required cranioplasty. SynRG surgeons generally did not counsel against sports participation (including contact sports) for children with a history of SSC surgery as an infant who had ideal healing. In patients requiring cranioplasty, 39%-50% of surgeons recommended against high-contact sports participation.

How Necessary is Duraplasty in the Treatment of Chiari Malformation?

How Necessary is Duraplasty in the Treatment of Chiari Malformation?

Posterior Vault Distraction Osteogenesis for Craniosynostosis-Surgical Outcomes Over 12 Years.

Posterior vault distraction osteogenesis (PVDO) allows significant increase in intracranial volume but is associated with complications including cerebrospinal fluid (CSF) leaks, infection and device failure. The authors outline their outcomes over 12 years and the impact of PVDO on pre-existing Chiari malformation type 1 (CM). Retrospective review of all PVDOs in our unit over a period of 12 years from 2011 to 2023. Results: 51 patients. The mean age of surgery 9 months. The mean length of follow-up 72 months. 82% no complications, 12% dural tear with 2% CSF leak; 4% infection, 2% device failure, 10% blood transfusion. CM in 20% of patients-all are multisuture with 90% lambdoid synostosis involvement. CM is unchanged in the majority of patients post-PVDO. PVDO safe and effective with no re-do posterior vault expansions over 12 years. CM does not tend to resolve after PVDO and high-risk groups include multisuture and Crouzons.

Endoscopic third ventriculostomy with or without choroid plexus cauterization for preventing shunt dependence in pediatric hydrocephalus: preliminary results of a prospective clinical case series in a lower-middle-income country (Egypt).

Pediatric hydrocephalus imposes a significant clinical and financial burden in developing countries. Traditional treatment by ventricular shunting in this setting suffers a high rate of shunt infection and malfunction. This study aims at assessing the efficacy and safety of endoscopic third ventriculostomy (ETV), either alone or combined with choroid plexus cauterization (CPC), for preventing shunt dependence in pediatric hydrocephalus within a healthcare setting of a tertiary hospital in Egypt. A prospective clinical case series included patients aged 16years or younger with clinical manifestations of hydrocephalus requiring CSF diversion. Cases with active infection or brain imaging showing prohibitive anatomical distortion or multiloculated hydrocephalus were excluded. Failed ETV + / - CPC cases were categorized into early (< 3months) and late (> 3months) failure groups, each with specific management strategies. A total of 40 patients were admitted to Ain Shams University Hospital between March 2022 and August 2023 and underwent ETV/CPC (n = 32) for those younger than 2years and ETV alone (n = 8) for patients > 2years old, using a flexible neuroendoscope. Aqueductal stenosis was the most common etiology, observed in 13 patients (32.5%), followed by Chiari type 2 in 11 patients (27.5%), and post-infectious causes in 6 patients (15%). The median age of the patients was 5.05months (mean 22months; range 0.23-169.27months). The median preoperative ETV success score (ETVSS) was 50. Overall, 25 patients (62.5%) achieved successful outcomes following either ETV alone or ETV/CPC procedures, with no procedure-related morbidity or mortality. Fifteen patients (37.5%) experienced ETV failure, of whom 6 underwent ETV redo procedures. Across the entire cohort, 28 patients (70%) remained shunt-free, with a mean follow-up of 12months. The addition of CPC to ETV (for patients < 2years) using the flexible scope demonstrates effectiveness in decreasing the necessity for shunt placement in younger patients with a likelihood of ETV failure. Moreover, being a safe procedure, it supports a sustainable and cost-effective approach to hydrocephalus treatment.

Postmarketing Safety Surveillance of Topiramate: A Signal Detection and Analysis Study Based on the FDA Adverse Event Reporting System Database.

This study aims to investigate the occurrence of adverse events associated with topiramate by analyzing data from the FDA Adverse Event Reporting System. The goal is to provide a basis for the safe clinical use of topiramate. Adverse event data from the FDA Adverse Event Reporting System, from its inception through the first quarter of 2024, were extracted. Signal detection was conducted using three methods: the reporting odds ratio, the medicines and healthcare products regulatory agency method, and the Bayesian confidence propagation neural network. Adverse events were statistically analyzed according to the preferred term and system organ class classifications from the Medical Dictionary for Regulatory Activities version 27.0. Positive signals were then compared against the drug label and the Important Medical Event list. A total of 12,168 adverse event reports involving topiramate as the primary suspect were analyzed, resulting in the extraction of 244 positive signals across 15 system organ classes. Among these, 21 signals were identified as serious adverse reactions not included in the drug label, encompassing 5 system organ classes. Notable signals included hypospadias, spina bifida, abortion spontaneous, renal tubular dysfunction, uveitis, retinal detachment, and choroidal effusion. Additionally, signals such as osmotic demyelination syndrome and Arnold-Chiari malformation were identified as requiring further monitoring. This study identified several unexpected and serious adverse reaction signals that align with previously reported cases. These findings underscore the need for ongoing study, focused attention, and vigilant monitoring during the clinical use of topiramate.

Anaesthetic management of infant with occipital encephalocele associated with Arnold Chiari III malformation - A Case Report

Abstract Children with occipital meningoencephalocele associated with Arnold–Chiari III malformation present unique challenges to anesthesiologists. Meningoencephalocele is a congenital anomaly wherein meninges, brain, and cerebrospinal fluid (CSF) are herniated through defect in the skull. Challenges to anesthesiologists include difficult airway, latex allergy, bleeding, CSF loss, and autonomic disturbances. Here, we report a late case of a 9-month-old male child with occipital encephalocele associated with Arnold–Chiari III malformation. The child underwent surgical correction under general anesthesia without any adverse event. The anticipated difficult airway was secured with prior planning and teamwork. Multidisciplinary care and careful planning are essential to safeguard the perioperative outcomes for patients with meningoencephalocele wherein difficult airway, blood loss, autonomic dysfunction, and perioperative hypothermia are major concerns.

Craniolacuna, cribriform skull associated with myelomeningocele and chiari type II malformation: A case report.

Cranial lacuna is a low density radiological image of the cranial vault giving the appearance of beaten copper, the rarefaction zones which are several, producing radiologically a "soap bubble" or "honeycomb" effect. due either to an absence of the internal and external tables or to the absence of a single table or to localized demineralization. They are either physiological or pathological. They are associated with neurological malformations especially hydrocephalus, myelomeningocele and chiari type II malformations. We report the case of a newborn aged one day, admitted for the management of myelomeningocele associated with a chiari type II malformation and a lacunar skull diagnosed postnatally. The newborn is a male, 39 weeks pregnancy, cesarean section. Weight 3500 g, Apgar: 7/10, 8/10. Mother: G6/P5. His clinical examination reveals good skin-mucosal coloration, eupnea, slight axial hypotonia, normal cardiopulmonary auscultation, permeable choanae and esophagus, cranial perimeter at 33 cm, ruptured spina bifida. The skull X-ray reveals a beaten copper appearance of the skull with marked convolutions. The normal chest X-ray. The Abdomino-Pelvic ultrasound finds bilateral uretero-hydronephrosis more marked on the left, with distended bladder and signs of neurogenic bladder. The normal echocardiogram. The brain CT scan reveals a type 2 Chiari malformation, absence of hydrocephalus, The negative infectious assessment, The correct renal assessment, The newborn received neurosurgical management of spina bifida, with a reserved neurological prognosis. This condition is associated with neurological malformations that can have a poor prognosis. Prognosis is reserved in the event of an association with a myelomeningocele because it is dominated by the risk of infection and the dark neurological outcome. The lacunar images resolve spontaneously after 4 to 6 months.

Neuraxial biomechanics, fluid dynamics, and myodural regulation: rethinking management of hypermobility and CNS disorders

Individuals with joint hypermobility and the Ehlers-Danlos Syndromes (EDS) are disproportionately affected by neuraxial dysfunction and Central Nervous System (CNS) disorders: such as Spontaneous Intracranial Hypotension (SIH) due to spinal cerebrospinal fluid (CSF) leaks, Upper Cervical Instability (UCI; including craniocervical or atlantoaxial instability (CCI/AAI)), Occult Tethered Cord Syndrome (TCS), Chiari Malformation (CM) and Idiopathic Intracranial Hypertension (IIH). The neuraxis comprises the parts of the nervous system (brain, nerves, spinal cord) along the craniospinal axis of the body. Neuraxial tissue includes all tissue structures that comprise, support, sheath, and connect along the neuraxis and peripheral nerves. Altered mechanical loading or vascular supply of neural structures can adversely impact neural health and conductivity, with local and remote effects on inflammation, venous congestion, and muscle control. With EDS characterized by altered structure of the connective tissues found throughout the body including the neural system, altered mechanical properties of the central nervous system (CNS) and its surrounding tissue structures are important considerations in the development and diagnostics of these CNS disorders, as well as response to therapeutic interventions. Experts have identified a need for neuraxial curriculum in medical education and hypermobility-adapted treatment approaches in pain management, neurosurgery, anesthesiology, hematology, gastrointestinal surgery, dermatology, cardiology, dentistry, gastroenterology, allergy/immunology, physical therapy, primary care, radiology and emergency medicine. This paper reviews the interactions between neuraxial biomechanics and pathology related to CNS disorders seen commonly with EDS. First, we provide a concise synthesis of the literature on neuraxial kinematics and fluid dynamics. We then discuss the interplay of these biomechanics and their involvement in clinically-relevant diagnoses and overlapping symptom presentations, modeling physiological reasoning to highlight knowledge gaps, support clinical decision-making, improve multidisciplinary management of hypermobility-associated complexity, and add weight to the call for medical education reform.

A patient with a PTPN11 gene variant complicated with Chiari I malformation and syringomyelia and a review of literatures.

According to previous literature reports, PTPN11 gene variants account for approximately 50% of Noonan syndrome (NS) cases and 85% of Leopard syndrome (LS) cases. Several patients who were diagnosed with NS or LS complicated with Chiari I malformation (CIM) and/or syringomyelia have been reported to have a PTPN11 variant. However, it is not always clear whether the association between CIM and/or syringomyelia and PTPN11 variants is real or random. We try to explain this phenomenon by reporting a clinical case and making a mini-review. We retrospectively described a clinical case in detail and made a genetic test on the proband and her family members using whole-exome sequencing. And made a review of the related literatures. The patient was manifesting progressive abnormal gait and muscle weakness for more than 2 years before she was admitted to our hospital at the age of 5 years and 2 months. On examination, she looked frail and slender. She had short stature, mild intellectual disability, decreased muscle strength in the left limb, thinner left limb, left hollow foot and foot drop, weakened left knee and Achilles tendon reflexes and a positive left Babinski sign. She looked timid and had very little expressive language. MRI of the brain and spine revealed CIM and syringomyelia with hydrops. Cardiac ultrasonography revealed an ostium secundum defect. ECG examination showed no abnormalities. She received a spinal cavity subarachnoid shunt; the symptoms were relieved to some extent, and the cavity in the lumbar vertebrae was significantly reduced after the surgery. Genetic testing found a variant, c. 922A>G (p. Asn308Asp) in the PTPN11 gene. Both parents were wild-type at this locus. A literature review found that 31 patients with NS or LS were complicated with CIM, syringomyelia or both. Together with our patient, a total of six patients in this group had the PTPN11 gene variant. Among them, four were complicated with both CIM and syringomyelia, and two were complicated with CIM only. We report another case with a PTPN11 variant that was complicated with both CIM and syringomyelia. It suggests that CIM and syringomyelia may be clinical manifestations of PTPN11 variation-related diseases. This phenomenon may be underrated due to limitations of genetic diagnostic methods in the past. We strongly suggest routine craniocerebral and spinal MRI scans and genetic testing for patients suspected of having NS or LS.

Spinal cord-spinal canal disproportion following treatment for syringomyelia associated with Chiari malformation type I: illustrative case.

Chiari malformation type I (CM-I) is a common pediatric neurosurgical condition that is often associated with syringomyelia (SM) and spine deformity. The association of these three conditions is well recognized, but the pathophysiology linking them has yet to be fully elucidated. This case report describes the unusual course of a 13-year-old male with CM-I, a large holocord syrinx, and progressive scoliosis who developed an angiography-negative subarachnoid hemorrhage (SAH) 4 months after successful posterior fossa decompression with duraplasty (PFDD). Notably, his cervical spinal canal diameter was increased relative to normative data. After presenting with SAH, he was treated with a course of lumbar cerebrospinal fluid drainage, which relieved his symptoms, and he had no further incidents. His syrinx responded to PFDD with a dramatic decrease in spinal cord diameter, in contradistinction to his dilated bony spinal canal. He is presently 4 years out from his SAH and doing well clinically. This report describes the first case of nonaneurysmal SAH following PFDD for CM-I and SM and explores a possible link between SM and bony spinal canal diameter. https://thejns.org/doi/10.3171/CASE24272.

The Impact of Intraoperative CT-Based Navigation in Congenital Craniovertebral Junction Anomalies: New Concepts of Treatment.

Congenital craniovertebral junction anomalies (CCVJAs) encompass a diverse range of conditions characterized by distorted anatomy and significant variation in the pathways of neurovascular structures. This study aims to assess the safety and feasibility of tailoring posterior fixation for CCVJAs through intraoperative CT-based navigation. An in-depth retrospective analysis was conducted on eight patients diagnosed with CCVJAs (excluding Arnold-Chiari malformation). These patients underwent posterior fixation/arthrodesis facilitated by intraoperative CT-based navigation. The analysis included an examination of the fixation strategies, complication rates, length of stay, post-operative complications, and success of arthrodesis. Additionally, a comprehensive literature review was undertaken to contextualize and compare our findings. Patients undergoing CVJ posterior fixation with intraoperative CT-based navigation exhibited a flawless record, devoid of complications related to the damage to neurovascular structures, as well as any instances of screw misposition, pullout, or breakage (0 out of 36 total screws). Furthermore, the entire cohort demonstrated a 100% arthrodesis rate. None of the patients required treatment with an occipital plate. The incorporation of intraoperative CT-based navigation proves to be an invaluable asset in executing CVJ posterior fixation within the context of CCVJAs. This technology facilitates the customization of posterior constructs, a crucial adaptation required to navigate the anatomical challenges posed by these anomalies. The secure placement of screws into the occipital condyles, made possible by navigation, has proven highly effective in achieving CVJ fixation, obviating the need for an occipital plate. This technological leap represents a significant advancement, enhancing the safety, precision, and overall outcomes for patients undergoing this surgical procedure, while concurrently reducing the necessity for more invasive and morbid interventions.

Correlation of anterior CSF space in the cervical spine with Chicago Chiari Outcome Scale score in adult females.

Craniocervical junction morphology has been associated with Chiari malformation type I (CMI) symptom severity; however, little is known about its deterministic effect on surgical outcomes in patients across age and sex differences. The goal of the present study was to assess the effects of age and sex on surgical outcomes in CMI. In the present study, the authors examined MRI-based morphometric data from 115 individuals diagnosed with CMI (54 adults including 39 women and 15 men, and 61 children including 24 girls and 37 boys) and correlated them with Chicago Chiari Outcome Scale (CCOS) scores obtained 1 year after posterior fossa decompression. The authors assessed 7 craniocervical junction morphology-related measures that have been associated with CMI symptom severity: McRae line length, clivus length, Wackenheim angle, anterior and posterior CSF spaces, clivo-supraoccipital angle, and tonsillar position. In the pediatric cohort, none of the morphometric measures correlated with CCOS score, but both anterior and posterior CSF spaces did in adults. To further study sex and age effects, the authors used age group (children vs adults) and sex (female vs male) as independent variables and ran 3 separate ANOVA tests using CCOS score, anterior CSF space, and posterior CSF space as dependent variables, respectively. Both CCOS and anterior CSF space analyses resulted in significant interactions. Specifically, women showed lower CCOS scores and smaller anterior CSF spaces than girls, boys, or men. These results provide evidence that joint age and sex differences moderate the surgical outcome of CMI patients. In females, smaller anterior CSF space was associated with lower CCOS score.

Incidence of Subdural Hygroma on Routine Early Postoperative Imaging Following Foramen Magnum Decompression for Chiari Malformation Type 1 in 156 Patients

To determine the incidence of subdural hygroma(SDH) on routine early post-operative imaging following foramen magnum decompression(FMD) with dural opening in patients with Chiari 1 malformation (CM1). Clinical and radiological data of 156 consecutive patients with CM1 who underwent FMD (2006-2023) were retrospectively analysed. Computed tomography (CT) scans done on the 7th postoperative day or earlier were reviewed for the presence of SDH (infra-and supratentorial) and ventriculomegaly. There were 96 (61.5%) males. The median age was 29.1 years. 64/156 (41 %) patients had SDH on postoperative CT done at median interval of 7 days (IQR, 5.8-7 days) after surgery. 22/64 (34.4%) patients were symptomatic for SDH, the main symptoms being holocranial headache (n=16), CSF leak (n=5) and acute respiratory distress (n=3). There was significant association between development of ventriculomegaly or worsening of preexisting ventriculomegaly and presence of SDH (p=0.004). The associated ventriculomegaly, present in 7/22 patients with symptomatic SDH, was managed with external ventricular drainage (EVD)(n=2), ventriculoperitoneal shunt (n=3) or widening of FMD and EVD (1)/ventriculo peritoneal shunt (1) (n=2). Two patients with SDH and ventriculomegaly died and 2 were moribund at 3 months after surgery. At median follow up of 12 months, the other 18 patients with symptomatic SDH had symptom resolution. SDH is a common finding in the early post-operative scans of patients undergoing FMD and dural opening for CM1. While nearly two-thirds of these patients are asymptomatic, SDH with ventriculomegaly can be associated with mortality and significant morbidity and may require emergency treatment.

Radiometric and Morphologic Analysis of Arnold Chiari Type-I Malformation and Idiopathic Syringomyelia: A Case Series from Pakistan.

Chiari I Malformation-associated syringomyelia (CM) and idiopathic syringomyelia (IS) are often confused together. They require different diagnostic approach and treatment modalities; it is important to distinguish between the two. We aimed to evaluate the radiological and morphologic characteristics of CM and IS in adult and pediatric patients in Pakistani population. Our retrospective case series was conducted at the Department of Radiology, Punjab Institute of Neurosciences assessing the operated cases of CM and IS cases from January 2022 to December 2023. Preoperative morphologic and radiological data was collected for adult and pediatric patients. Out of 16 patients, 75% were adults and four were children. Twelve patients were male. The mean age of adult patients at presentation was 30.50 ± 9.20 years. There were nine cases of Chiari I Malformation and seven cases of idiopathic syringomyelia. Craniocervical junction (CCJ) was the most common site of syrinx formation in adults (41.66%) in both Chiari I and IS groups. The mean size of syrinx in adults in IS was 7.842 ± 1.93 and in CM was 4.740 ± 0.45. Mean size of syrinx in children was 4.84 ± 0.48 mm. Moniliform shape was the most common form of syrinx in patients in both CM and IS groups. In the Pakistani population, this study focuses on the radiological characteristics of idiopathic syringomyelia (IS) and Chiari I Malformation (CM), both of which commonly exhibit a moniliform syrinx. The craniocervical junction was frequently involved in CM, but IS exhibited a wider, bigger syrinx. Accurate diagnosis as well as treatment depend on imaging.

Chiari Malformation Type I and Syringomyelia: Outcomes of Arachnoid-Preserving Surgical Technique.

BACKGROUND Chiari malformation type 1 occurs when the cerebellar tonsils are pushed into the spinal canal, which can result in syringomyelia. This retrospective study from a single center evaluated outcomes in 89 patients with Chiari malformation type-I (CM-I) and syringomyelia treated with an arachnoid-preserving technique between 2016 and 2023. MATERIAL AND METHODS A retrospective analysis was conducted at a tertiary referral center, involving 88 adult patients and 1 adolescent patient aged 14 to 61 years, with diagnosis by MRI and treated for CM-I with syringomyelia between 2016 and 2023, using the arachnoid-preserving technique. Patients' demographics, clinical presentations, radiological findings, surgical details, and postoperative outcomes were analyzed. Primary outcomes were postoperative complications, while secondary outcomes included neurological improvement (measured by the visual analog scale) and patient satisfaction. RESULTS The study included 89 patients, with 69 female (77.5%) and 20 male (22.5%) patients. A significant reduction in syrinx size was observed in 83.3% of patients, with complete resolution in 16.7%. Mean surgery duration was 90 min, and average hospitalization duration was 2.75 days. All patients experienced significant improvements in neurological symptoms, such as headache, neck pain, numbness, and weakness. High levels of patient satisfaction were reported, with 100% of patients satisfied with their surgical outcomes. The incidence of complications, such as cerebrospinal fluid leakage and arachnoiditis, was notably lower than those by traditional methods. CONCLUSIONS The linear, arachnoid-preserving suboccipital decompression technique offers a safe, effective, and rapid alternative for managing CM-I with syringomyelia, demonstrating a notable reduction in postoperative complications and significant improvements in neurological outcomes.

Using Artificial Intelligence to Identify Three Presenting Phenotypes of Chiari Type-1 Malformation and Syringomyelia

BACKGROUND AND OBJECTIVES: Chiari type-1 malformation (CM1) and syringomyelia (SM) are common related pediatric neurosurgical conditions with heterogeneous clinical and radiological presentations that offer challenges related to diagnosis and management. Artificial intelligence (AI) techniques have been used in other fields of medicine to identify different phenotypic clusters that guide clinical care. In this study, we use a novel, combined data-driven and clinician input feature selection process and AI clustering to differentiate presenting phenotypes of CM1 + SM. METHODS: A total of 1340 patients with CM1 + SM in the Park Reeves Syringomyelia Research Consortium registry were split a priori into internal and external cohorts by site of enrollment. The internal cohort was used for feature selection and clustering. Features with high Laplacian scores were identified from preselected groups of clinically relevant variables. An expert clinician survey further identified features for inclusion that were not selected by the data-driven process. RESULTS: The feature selection process identified 33 features (28 from the data-driven process and 5 from the clinician survey) from an initial pool of 582 variables that were incorporated into the final model. A K-modes clustering algorithm was used to identify an optimum of 3 clusters in the internal cohort. An identical process was performed independently in the external cohort with similar results. Cluster 1 was defined by older CM1 diagnosis age, small syringes, lower tonsil position, more headaches, and fewer other comorbidities. Cluster 2 was defined by younger CM1 diagnosis age, more bulbar symptoms and hydrocephalus, small syringes, more congenital medical issues, and more previous neurosurgical procedures. Cluster 3 was defined by largest syringes, highest prevalence of spine deformity, fewer headaches, less tonsillar ectopia, and more motor deficits. CONCLUSION: This is the first study that uses an AI clustering algorithm combining a data-driven feature selection process with clinical expertise to identify different presenting phenotypes of CM1 + SM.