The Chiari I Malformation
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The Chiari Malformations *
J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.72.suppl_2.ii38 on 1 June 2002. Downloaded from THE CHIARI MALFORMATIONS Donald M Hadley ii38* J Neurol Neurosurg Psychiatry 2002;72(Suppl II):ii38–ii40 r Hans Chiari1 first described three hindbrain disorders associated with hydrocephalus in 1891. They have neither an anatomical nor embryological correlation with each other, but Dthey all involve the cerebellum and spinal cord and are thought to belong to the group of abnormalities that result from failure of normal dorsal induction. These include neural tube defects, cephaloceles, and spinal dysraphic abnormalities. Symptoms range from headache, sensory changes, vertigo, limb weakness, ataxia and imbalance to hearing loss. Only those with a type I Chiari malformation may be born grossly normal. The abnormalities are best shown on midline sagittal T1 weighted magnetic resonance imaging (MRI),2 but suspicious features on routine axial computed tomographic brain scans (an abnormal IVth ventricle, a “full” foramen magnum, and absent cisterna magna) should be recognised and followed up with MRI. c CHIARI I This is the mildest of the hindbrain malformations and is characterised by displacement of deformed cerebellar tonsils more than 5 mm caudally through the foramen magnum.3 The brain- stem and IVth ventricle retain a relatively normal position although the IVth ventricle may be small copyright. and slightly distorted (fig 1). A number of subgroups have been defined. c In the first group, intrauterine hydrocephalus causes tonsillar herniation. Once myelinated the tonsils retain this pointed configuration and ectopic position. Patients tend to present in child- hood with hydrocephalus and usually with syringomyelia. -
Chiari Malformation by Ryan W Y Lee MD (Dr
Chiari malformation By Ryan W Y Lee MD (Dr. Lee of Shriners Hospitals for Children in Honolulu and the John A Burns School of Medicine at the University of Hawaii has no relevant financial relationships to disclose.) Originally released August 8, 1994; last updated March 9, 2017; expires March 9, 2020 Introduction This article includes discussion of Chiari malformation, Arnold-Chiari deformity, and Arnold-Chiari malformation. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations. Overview Chiari malformation describes a group of structural defects of the cerebellum, characterized by brain tissue protruding into the spinal canal. Chiari malformations are often associated with myelomeningocele, hydrocephalus, syringomyelia, and tethered cord syndrome. Although studies of etiology are few, an increasing number of specific genetic syndromes are found to be associated with Chiari malformations. Management primarily targets supportive care and neurosurgical intervention when necessary. Renewed effort to address current deficits in Chiari research involves work groups targeted at pathophysiology, symptoms and diagnosis, engineering and imaging analysis, treatment, pediatric issues, and related conditions. In this article, the author discusses the many aspects of diagnosis and management of Chiari malformation. Key points • Chiari malformation describes a group of structural defects of the cerebellum, characterized by brain tissue protruding into the spinal canal. • Chiari malformations are often associated -
Pushing the Limits of Prenatal Ultrasound: a Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3Q Duplication
reproductive medicine Case Report Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication Olivier Leroij 1, Lennart Van der Veeken 2,*, Bettina Blaumeiser 3 and Katrien Janssens 3 1 Faculty of Medicine, University of Antwerp, 2610 Wilrijk, Belgium; [email protected] 2 Department of Obstetrics and Gynaecology, University Hospital Antwerp, 2650 Edegem, Belgium 3 Department of Medical Genetics, University Hospital and University of Antwerp, 2650 Edegem, Belgium; [email protected] (B.B.); [email protected] (K.J.) * Correspondence: [email protected] Abstract: We present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a dorsal dermal sinus. Genetic analysis found a mosaic 3q23q27 duplication in the form of a marker chromosome. This case emphasizes that meticulous prenatal ultrasound examination has the potential to diagnose even closed subtypes of neural tube defects. Furthermore, with cerebral anomalies suggesting a spina bifida, other imaging techniques together with genetic tests and measurement of alpha-fetoprotein in the amniotic fluid should be performed. Citation: Leroij, O.; Van der Veeken, Keywords: dorsal dermal sinus; Arnold–Chiari anomaly; 3q23q27 duplication; mosaic; marker chro- L.; Blaumeiser, B.; Janssens, K. mosome Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q 1. -
Chiari Malformation and Hydrocephalus Masking Neurocysticercosis Sharad Rajpal1, Colson Tomberlin2, Andrew Bauer1, Robert C
Case Report Author's Personal Copy Chiari Malformation and Hydrocephalus Masking Neurocysticercosis Sharad Rajpal1, Colson Tomberlin2, Andrew Bauer1, Robert C. Forsythe3, Sigita Burneikiene1,4 Key words - BACKGROUND: Various diagnostic characteristics associated with neuro- - Chiari malformation cysticercosis have been well studied; however, their potential to be implicated - Hydrocephalus - Neurocysticercosis in other differential diagnoses has not been well demonstrated. - Subarachnoid cysts - CASE DESCRIPTION: We report the case of a 55-year-old Hispanic man who Abbreviations and Acronyms underwent a Chiari decompression surgery, which was complicated with hy- CP: Cerebellopontine drocephalus. Despite a ventriculoperitoneal shunt placement, he continued to MRI: Magnetic resonance imaging have headaches and was soon found to have several skull base subarachnoid VP: Ventriculoperitoneal lesions, which were later diagnosed as the sequelae of an active neuro- From the 1Boulder Neurosurgical Associates, 2University of cysticercosis infection. Colorado Boulder, 3Bouder Valley Pathology, and 4Justin Parker Neurological Institute, Boulder, Colorado, USA - CONCLUSION: This case report highlights the importance of overlapping To whom correspondence should be addressed: symptoms between diseases in a short temporal context. Sharad Rajpal, M.D. [E-mail: [email protected]] Citation: World Neurosurg. (2018) 114:68-71. https://doi.org/10.1016/j.wneu.2018.03.010 duraplasty. He had an uneventful hospital After approximately 8 months, the pa- Journal homepage: www.WORLDNEUROSURGERY.org course and was discharged home after 3 tient was seen in the emergency depart- days. The patient did well for several ment again for a fever, headache, balance Available online: www.sciencedirect.com months but then presented with recurrent problems, and myalgias. MRI of the brain 1878-8750/$ - see front matter ª 2018 Elsevier Inc. -
Chiari Type II Malformation: Past, Present, and Future
Neurosurg Focus 16 (2):Article 5, 2004, Click here to return to Table of Contents Chiari Type II malformation: past, present, and future KEVIN L. STEVENSON, M.D. Children’s Healthcare of Atlanta, Atlanta, Georgia Object. The Chiari Type II malformation (CM II) is a unique hindbrain herniation found only in patients with myelomeningocele and is the leading cause of death in these individuals younger than 2 years of age. Several theories exist as to its embryological evolution and recently new theories are emerging as to its treatment and possible preven- tion. A thorough understanding of the embryology, anatomy, symptomatology, and surgical treatment is necessary to care optimally for children with myelomeningocele and prevent significant morbidity and mortality. Methods. A review of the literature was used to summarize the clinically pertinent features of the CM II, with par- ticular attention to pitfalls in diagnosis and surgical treatment. Conclusions. Any child with CM II can present as a neurosurgical emergency. Expeditious and knowledgeable eval- uation and prompt surgical decompression of the hindbrain can prevent serious morbidity and mortality in the patient with myelomeningocele, especially those younger than 2 years old. Symptomatic CM II in the older child often pre- sents with more subtle findings but rarely in acute crisis. Understanding of CM II continues to change as innovative techniques are applied to this challenging patient population. KEY WORDS • Chiari Type II malformation • myelomeningocele • pediatric The CM II is uniquely associated with myelomeningo- four distinct forms of the malformation, including the cele and is found only in this population. Originally de- Type II malformation that he found exclusively in patients scribed by Hans Chiari in 1891, symptomatic CM II ac- with myelomeningocele. -
12 Neurological Anomalies
BIOL 6505 − INTRODUCTION TO FETAL MEDICINE 12. NEUROLOGICAL ANOMALIES Petra Klinge, M.D. TOPICS • Myelodysplasia - Open vs. Closed neural tube defects • Hydrocephalus Congenital vs. Acquired I. MYELOMENINGOCELE (MMC)/OPEN NEURAL TUBE DEFECT • Single most common congenital defect of the central nervous system • 4.5/10,000 live births • 1500 cases/year despite dietary folate supplementation (50% reduction) • $200,000,000 health care dollars/year A. MMC - Embryogenesis • Initial closure of neural tube - day 21-23 • Cranial neuropore closure - day 23-25 • Caudal neuropore closure - day 25-27 • Spinal occlusion and initial ventricular expansion - day 25-32 • Secondary Neurulation - Caudal cell mass, Cavitation/retrogressive differentiation - day 27-54 B. Unified Mechanism D.G. McLone, M.D., Ph.D. • Open neural tube defect and leak of CSF into amniotic fluid - AFP positive • Loss of IV ventricular dilatation and expansion of rhombencephalon/posterior fossa • Small posterior fossa and creation of Chiari II malformation (Arnold Chiari malformation) C. MMC • Open neural tube defect - exposed neural placode • Chiari II malformation - Tectal beak, descent of IV ventricle, vermis herniation, medullary kink • Hydrocephalus, 85% require VPS D. MMC - Surgical Principals • Closure of open defect/MMC - 24-72 hours, minimizing risk of meningitis • CSF shunt/diversion for control of hydrocephalus, 80-90% cases 1 BIOL 6505 Spinal Dysraphism and Hydrocephalus: Neurosurgery in the Neonate (Continuation of Surgical Principals) • Chiari II decompression for stridor, airway obstruction, vocal cord paresis (less than 20%) E. Closure of MMC • Start IV antibiotics after birth • Cover neural placode with moist telfa and plastic wrap (saran). Keep moist • Avoid pressure to back. No peeking! • Family discussion with true objective • Planned, elective surgical procedure F. -
Spina Bifida and Chiari Malformation
In partnership with Primary Children’s Hospital Spina bifida and Chiari malformation Normal Chiari malformation Cerebellum Foramen Cerebellar magnum tonsils Spinal cord Brainstem What is Chiari malformation? A Chiari malformation can cause: In Chiari (kee-ARE-ee) malformation, the brainstem • The brainstem, spinal cord, and cerebellum to stop and cerebellum are pushed down because there is working properly less space in the brain. Because the normal flow of • Cerebrospinal fluid (CSF) to stop flowing, which fluid is blocked, it builds up and increases pressure means less protection for the brain and spine on the brain. • Hydrocephalus (a buildup of CSF in the brain) There are four types of Chiari malformation. While type I is most common, type II is often associated How do I know if my child has with spina bifida. Chiari malformation? What happens when my child has If your child shows some or all of the following Chiari malformation? symptoms, have them checked for Chiari malformation: In a normal skull, the cerebellum (which controls balance) sits just above the spine. When the space for • Headaches the cerebellum is too small, part of the cerebellum • Difficulty breathing squeezes down the foramen magnum, a hole beneath • Not breathing (apnea) the skull. Part of the brainstem, which contains many nerves for the head, eyes, and neck, is pushed down • High-pitched noisy breathing (stridor) as well. • Problems swallowing or feeding (in babies) 1 • Arms that are weak and numb Chiari malformation symptoms are different at different ages. This table will give you the most common signs of Chairi malformation. Infants Poor feeding, not breathing (apnea), or arm weakness 10 years and younger High-pitched noisy breathing (stridor) Older than 10 Arm weakness, trouble breathing, and sometimes high pitched noisy breathing (stridor). -
Cerebrospinal Fluid Leakage and Chiari I
n e u r o l o g i a i n e u r o c h i r u r g i a p o l s k a 5 1 ( 2 0 1 7 ) 4 2 7 – 4 3 1 Available online at www.sciencedirect.com ScienceDirect journal homepage: http://www.elsevier.com/locate/pjnns Case report Cerebrospinal fluid leakage and Chiari I malformation with Gorham's disease of the skull base: A case report Hiroaki Nagashima *, Katsu Mizukawa, Masaaki Taniguchi, Yusuke Yamamoto, Eiji Kohmura Department of Neurosurgery, Kobe University Graduate School of Medicine, 7-5-2, Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan a r t i c l e i n f o a b s t r a c t Article history: Background: Gorham's syndrome is a rare bone disorder characterized by massive osteolysis Received 16 September 2016 of unknown etiology. There are no reports of comorbidity involving cerebrospinal fluid (CSF) Accepted 30 June 2017 leakage and Chiari I malformation with Gorham's syndrome. Here, we report an unusual Available online 13 July 2017 case of an acute presyrinx state complicated by bacterial meningitis due to CSF leakage and Chiari I malformation associated with Gorham's disease of the skull base. Keywords: Case presentation: A 25-year-old woman with Chiari I malformation associated with Gor- ham's syndrome presented with aggressive paresthesia following bacterial meningitis. Axial Gorham's syndrome Meningitis magnetic resonance imaging (MRI) and computed tomography (CT) cisternography revealed CSF leakage in the right petrous apex. A presyrinx state was diagnosed based on the clinical Cerebrospinal fluid leakage symptoms and MRI findings. -
Argued April 23, 2002 Decided August 7, 2002 )
UNITED STATES COURT OF APPEALS FOR VETERANS CLAIMS N O . 00-669 M ICHELLE C. JONES, APPELLANT, V. A NTHONY J. PRINCIPI, SECRETARY OF VETERANS AFFAIRS, APPELLEE. On Appeal from the Board of Veterans' Appeals (Argued April 23, 2002 Decided August 7, 2002 ) Michael P. Horan, of Washington, D.C., for the appellant. Kathy A. Banfield, with whom Tim S. McClain, General Counsel; R. Randall Campbell, Acting Assistant General Counsel; and Darryl A. Joe, Acting Deputy Assistant General Counsel, all of Washington, D.C., were on the pleadings, for the appellee. Before FARLEY, HOLDAWAY, and STEINBERG, Judges. STEINBERG, Judge: The appellant, the daughter of a Vietnam veteran, appeals through counsel a March 15, 2000, decision of the Board of Veterans' Appeals (Board or BVA) that denied entitlement to her, as a child of a Vietnam veteran, for a Department of Veterans Affairs (VA) monetary allowance for a disability resulting from spina bifida. Record (R.) at 6. The appellant filed a brief and a reply brief, and the Secretary filed a brief. Oral argument was held on April 23, 2002. On April 25, 2002, the Court ordered supplemental briefing from the parties. In response to the Court's order, the Secretary filed a supplemental record on appeal (ROA) and a supplemental memorandum of law, and the appellant filed a reply to the Secretary's supplemental memorandum. The Court has jurisdiction over the case under 38 U.S.C. §§ 7252(a) and 7266(a). For the reasons set forth below, the Court will vacate the Board decision on appeal and remand the matter for readjudication. -
Chiari Malformations May 2011:Layout 1
A fact sheet for patients and carers Chiari malformations This fact sheet provides information on Chiari malformations. It focuses on Chiari malformations in adults. Our fact sheets are designed as general introductions to each subject and are intended to be concise. Sources of further support and more detailed information are listed in the Useful Contacts section. Each person is affected differently by Chiari malformations and you should speak with your doctor or specialist for individual advice. What is a Chiari malformation? A Chiari malformation is when part of the cerebellum, or part of the cerebellum and part of the brainstem, has descended below the foramen magnum (an opening at the base of the skull). The cerebellum is the lowermost part of the brain, responsible for controlling balance and co-ordinating movement. The brainstem is the part of the brain that extends into the spinal cord. Usually the cerebellum and parts of the brainstem are located in a space within the skull above the foramen magnum. If this space is abnormally small, the cerebellum and brainstem can be pushed down towards the top of the spine. This can cause pressure at the base of the brain and block the flow of cerebrospinal fluid (CSF) to and from the brain. Chiari malformations are named after Hans Chiari, the pathologist who first described them. Chiari malformations are sometimes referred to as Arnold-Chiari malformations (this name usually refers specifically to Type II Chiari malformations; see below). Another term sometimes used is hindbrain hernia. Cerebrospinal fluid (CSF) is a clear, colourless fluid that surrounds the brain and spine. -
Management of Chiari Malformation in Pregnancy and Delivery
Management of Chiari Malformation in Pregnancy and Delivery Mary Angela O’Neal, M.D. Janet Waters, MD, MBA Director of the Women’s Neurology Program Division Chief, Women’s Neurology Director of the Neurosciences clinic Associate Professor, University of Pittsburgh, Medical Center Pittsburgh, Pennsylvania Assistant Professor, Department of Neurology, Harvard Medical School Chiari Type I Downward displacement of the cerebellar tonsils below the foramen magnum of more than 5 mm May be associated with syringomyelia Images provided courtesy of Dr. Sanjay Prabhu; Staff Pediatric Neuroradiologist; Boston Children’s Hospital Chiari Type II Downward displacement of the cerebellar vermis and tonsils Kink in the medulla Hydrocephalus Syringomyelia Spinal myelomeningocele Chiari Type III Downward displacement of the cerebellum and brainstem Cervical or occipital encephalocele Spina bifida Chiari I Incidence Symptoms Labor concerns Ropper AH, Samuels, MA, Klein, JP. Developmental diseases of the nervous system. In Sydor AM, Davis KJ ed. Adams and Victor’s Principles of Neurology. 10th ed. New York, NY: McGraw Hill; 2014:1015-1017 Hullander, RM, Bogard TP, Leivers, D, Moran D, Dewan, DM. Chiari I malformation presenting as recurrent spinal headache. Anesth Analg. 1992;75:1025-6. Methods EMRs were used to identify all women who delivered at Magee Women’s Hospital & Brigham and Women’s Hospital between 1/2010 – 12/2015 with Chiari I malformation based on neuroimaging Excluded women who had undergone surgical decompression prior to delivery Retrospective chart review: demographics, neurologic history, radiology reports, choice of mode of delivery, anesthetic method and outcome were recorded Waters JFR, O’Neal MA, et al. Management of Anesthesia and Delivery in Women With Chiari I Malformations. -
Chiari Malfunctions in Childhood
Article NIMHANS Journal Chiari Malfunctions in Childhood Volume: 02 Issue: 01 January 1984 Page: 49-52 Sunil K Pandya, - Department of Neurosurgery, King Edward Memorial Hospital, Parel, Bombay-400 012 India Abstract The eponym should read 'Chiari malformations'. The causes of these malformations are obscure. Perhaps different mechanisms operate in each of the four types. Whilst hydrocephalus and spina bifida are the common features, acute respiratory distress or autonomic disturbances may be the only presenting signs. Air studies and angiography were hitherto the mainstay of diagnosis. Some patients do well with CSF shunting but most need decompression of the medullospinal junction. Key words - Chiari malformation, Hydrocephalus, Spina bifida A question of priority Chiari, with his detailed descriptions of these malformations in 1881 and 1885 surely deserves to have. them named after him to the exclusion of Arnold who merely described one case of the second type in 1894 [1]. Causation Opinions differ as to their causation. Hydrodynamic factors are championed by W James Gardner since 1950 [2], [3]. He holds the primary dialation of the lateral ventricles, downward displacement of the tentorium and marked reduction in the volume of the posterior fossa as factors responsible for downward displacement of cerebellum and medulla. He thus turned upside down Russell and Donald's contention [4] that the primary lesion was obstruction to the reflux of cerebrospinal fluid into the cranial cavity due to plugging of the foramen magnum by the Chiari malformation. Penfield and Coburn [5] suggested a downward pull by the tethered cord in the lumbosacral region as the causal factor.