DOCSLIB.ORG

Case Report Chiari III Malformation with Hypertelorism And

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Case Report Chiari III Malformation with Hypertelorism And [Downloaded free from http://www.pediatricneurosciences.com on Sunday, May 6, 2018, IP: 109.252.99.223] Case Report Chiari III malformation with hypertelorism and microcephaly in a neonate: Case report and a review of the literature Kapil Garg, Nitin Malik, Awadhesh K. Jaiswal, Sanjay Behari Department of Neurosurgery, Sanjay Gandhi Postgraduate institute of Medical Sciences, Lucknow - 226 014, India Address for Correspondence: Sanjay Behari, Additional Professor, Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow - 226014, India. E-mail: [email protected] ABSTRACT Chiari III malformation is an extremely rare anomaly characterized by low occipital and high cervical encephalocele with herniation of posterior fossa contents, that is, the cerebellum and/or the brainstem, occipital lobe, and fourth ventricle. We report the case of Chairi III malformation in a neonate with associated hypertelorism and microcephaly, discuss the etipopathogenetic and radiological features, and review the pertinent literature. The neonate, a two-day-old child, with Chairi-III malformation had a large low occipital and cervical osseous defect with nearly a nonexistent posterior fossa due to the herniation of the cerebellum and a part of the occipital lobe into the large encephalocele sac. The patient also had associated microcephaly and hypertelorism without hydrocephalus. The existence of significant, viable neural tissue within the encephalocele sac precluded any surgical intervention. In our patient, it is proposed that during early embryogenesis, incomplete distension of the telencephalic and the rhombencephalic ventricles resulted in Chiari III malformation (based upon unifying theory of embryogenesis of McLone and Knepper) with a large encephalocele containing major portions of cerebellum and occipital lobe, and left the chondrocranium without an adequate inductive force of the underlying neural mass. The skull was, therefore, microcephalic and the posterior fossa virtually nonexistent. Hypertelorism also resulted from failure of eyes to completely rotate forward during fetal life owing to the presence of this large posterior encephalocele and the absence of neural cues for the chondrocranial expansion. To the best of the authors’ knowledge, the association of Chairi-III malformation with microcephaly and hypertelorism has not been previously reported. KKeyey wwords:ords: Chiari III malformation, craniovertebral junction anomalies, hypertelorism, microcephaly Introduction of our knowledge, 30 cases of Chiari III malformations have been reported till date with their age ranging from newborn [2-19] Chiari III malformation is the rarest of the three classes to 16 years. We report the case of Chairi-III malformation of hindbrain anomalies described by Chiari in 1891[1] in a neonate with associated hypertelorism and microcephaly, and is associated with an occipital and/or upper cervical discuss the etipopathogenetic and radiological features, and review the pertinent literature. encephalocele that may contain occipital, cerebellar, brainstem, or upper cervical neural tissue.[2-6] Other associated anomalies may include hydrocephalus, tectal beaking, Case Report medullary kinking, a small posterior fossa, low-lying transverse sinuses, heart-shaped incisura, hypoplastic tentorial cerebelli, This two-day-old male child (weight 2.3 kg) was a full-term fenestrated falx cerebelli, concave clivus and petrous bone, normal delivery, born of nonconsanguineous parents. He had syringomyelia, and corpus callosal dysgenesis.[3,7-10] To the best microcephaly with small, lax and open anterior and posterior fontanelles. The coexisting large occipital and upper cervical encephalocele was 6 X 4 cm in size, fluctuant, nontender, Online full text at nonpulsatile, and only partially transilluminant. The skin http://www.pediatricneurosciences.com over the swelling was normal [Figure 1A and B]. He also had 2008 / Jul-Dec / Volume 3 / J Pediatr Neurosci / 169 [Downloaded free from http://www.pediatricneurosciences.com on Sunday, May 6, 2018, IP: 109.252.99.223] Garg et al.: Chiari III malformation with microcephaly and hypertelorism hypertelorism with the canthal index (i.e. the percentage ratio producing cortical heterotopias, gyral anomalies, and callosal of inner canthal distance to the outer canthal distance which dysgenesis) and the rhombencephalon (influencing cerebellar is normally 38 in male and 38.5 in female patients)[20] of 42 and brainstem development), respectively. The growth and [Figure 1A]. He was, however, taking feeds adequately, had a development of the chondocranium are normally dependent good respiratory effort, and was moving limbs spontaneously upon cues provided by expansion of the underlying neural and symmetrically. The tone in the limbs and reflexes were mass (the developing brain and ventricular system) during normal. There was no nystagmus, retrocollis, or postural early embryogenesis.[21,22] In our patient, the embryological abnormality. There was neither any history of any medicinal dynamics that resulted in Chiari III malformation and the intake (including iron and folic acid supplementation) nor consequent displacement of the contents of the posterior fossa any evidence of any maternal infection during pregnancy. contents into the encephalocele sac, also led to incomplete His magnetic resonance imaging (MRI) revealed an occipital distension of the telencephalic and the rhombencephalic and cervical (the dysraphic defect reaching till lower cervical ventricles and left the chondrocranium without an adequate vertebral bodies) encephalocele with herniation of a major inductive force. The skull was, therefore, microcephalic and portion of the occipital and cerebellar contents into it. There the posterior fossa virtually nonexistent. Due to the wide was no associated hydrocephalus or syringohydromyelia opening of the encephalocele sac, the neural tissue was not [Figure 2A-C]. In view of the grave prognosis, the parents impacted and the CSF flow through the foramen of Luschka refused intervention and have opted to wait until further and Magendi was not impaired. Thus, hydrocephalus did assessment regarding his social and language milestones is not develop.[21] possible. Hypertelorism is a rare abnormality characterized by an Discussion increased interorbital distance.[23] During embryonic development, the eyes initially separate from the diencephalon Our patient represents one of the youngest reported cases, as diverticulae and migrate to the lateral portion of the head. being only two-days old.[2-20] He had several unique features. As the face matures, the eyes rotate forward, reducing the The encephalocele contents included a large part of the orbital angle from 180 degrees to 71 degrees by birth and [20,23,24] occipital lobe and cerebellum and therefore, also the torcular to 68 degrees by maturity. Hypertelorism may result region with confluence of the venous sinuses. The posterior from either failure of the forward migration or from its fossa was virtually nonexistent and the cerebellovermian obstruction by congenital malformation such as an anterior [24] region, the midbrain, and parts of the occipital lobes had encephalocele. In our patient, the herniation of the herniated through an osseous defect of the inferior occipital occipital lobe and the contents of the posterior fossa into the bone and posterior elements of nearly the entire cervical large posterior encephalocele sac probably resulted in a failure spine and were below the basion–opisthion line. The of the forward migration of the eyes to normal position. The consequent microcephaly validates the unifying theory of canthal index[20] was abnormally high in our patient. Normally, embryogenesis for Chiari-II and -III formation.[21,22] According a vertical line from the pupils falls over the outer aspect of to this theory, an open neural placode allows cerebrospinal the lips; and, that from the medial canthus touches the alar fluid (CSF) to escape from the central canal of the caudal base of the nose.[23] In our patient, both these vertical lines neural tube. The interference with adequate enlargement were falling far lateral to the above mentioned anatomical of the telencephalic and rhombencephalic ventricles causes landmarks confirming hypertelorism. less support for the telencephalic hemisphere (resulting in disorganized migration of neurons from the ventricular zone, Chiari III malformation usually has a dismal prognosis with Figure 2: (A) T1; (B) T2 weighted sagittal MRI showing an occipital and cervical (the dysraphic defect reaching till lower cervical vertebral bodies) encephalocele with herniation of a major portion of the occipital and cerebellar contents into it. There was no associated hydrocephalus or Figure 1: (A) Patient’s frontal photograph showing hypertelorism; (B) syringohydromyelia; (C) T1 weighted axial MRI showing the large bony Patient’s lateral photograph showing the large occipital encephalocele with defect with the herniation of the viable occipital and cerebellar tissue into the microcephaly. The skin over the swelling is intact encephalocele sac 170 / J Pediatr Neurosci / Volume 3 / Jul-Dec / 2008 [Downloaded free from http://www.pediatricneurosciences.com on Sunday, May 6, 2018, IP: 109.252.99.223] Garg et al.: Chiari III malformation with microcephaly and hypertelorism most reports stating an early death and severe disability.[6,13] literature. Childs Nerv Syst 2001;17:373-5. Raimondi, however, has stated that
Load more

Recommended publications
  • 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.
    [Show full text]
  • 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
    [Show full text]
  • 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.
    [Show full text]
  • 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.
    [Show full text]
  • CONGENITAL ABNORMALITIES of the CENTRAL NERVOUS SYSTEM Christopher Verity, Helen Firth, Charles Ffrench-Constant *I3
    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.74.suppl_1.i3 on 1 March 2003. Downloaded from CONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM Christopher Verity, Helen Firth, Charles ffrench-Constant *i3 J Neurol Neurosurg Psychiatry 2003;74(Suppl I):i3–i8 dvances in genetics and molecular biology have led to a better understanding of the control of central nervous system (CNS) development. It is possible to classify CNS abnormalities Aaccording to the developmental stages at which they occur, as is shown below. The careful assessment of patients with these abnormalities is important in order to provide an accurate prog- nosis and genetic counselling. c NORMAL DEVELOPMENT OF THE CNS Before we review the various abnormalities that can affect the CNS, a brief overview of the normal development of the CNS is appropriate. c Induction—After development of the three cell layers of the early embryo (ectoderm, mesoderm, and endoderm), the underlying mesoderm (the “inducer”) sends signals to a region of the ecto- derm (the “induced tissue”), instructing it to develop into neural tissue. c Neural tube formation—The neural ectoderm folds to form a tube, which runs for most of the length of the embryo. c Regionalisation and specification—Specification of different regions and individual cells within the neural tube occurs in both the rostral/caudal and dorsal/ventral axis. The three basic regions of copyright. the CNS (forebrain, midbrain, and hindbrain) develop at the rostral end of the tube, with the spinal cord more caudally. Within the developing spinal cord specification of the different popu- lations of neural precursors (neural crest, sensory neurones, interneurones, glial cells, and motor neurones) is observed in progressively more ventral locations.
    [Show full text]
  • 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.
    [Show full text]
  • 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.
    [Show full text]
  • Classification of Congenital Abnormalities of the CNS
    315 Classification of Congenital Abnormalities of the CNS M. S. van der Knaap1 A classification of congenital cerebral, cerebellar, and spinal malformations is pre­ J . Valk2 sented with a view to its practical application in neuroradiology. The classification is based on the MR appearance of the morphologic abnormalities, arranged according to the embryologic time the derangement occurred. The normal embryology of the brain is briefly reviewed, and comments are made to explain the classification. MR images illustrating each subset of abnormalities are presented. During the last few years, MR imaging has proved to be a diagnostic tool of major importance in children with congenital malformations of the eNS [1]. The excellent gray fwhite-matter differentiation and multi planar imaging capabilities of MR allow a systematic analysis of the condition of the brain in infants and children. This is of interest for estimating prognosis and for genetic counseling. A classification is needed to serve as a guide to the great diversity of morphologic abnormalities and to make the acquired data useful. Such a system facilitates encoding, storage, and computer processing of data. We present a practical classification of congenital cerebral , cerebellar, and spinal malformations. Our classification is based on the morphologic abnormalities shown by MR and on the time at which the derangement of neural development occurred. A classification based on etiology is not as valuable because the various presumed causes rarely lead to a specific pattern of malformations. The abnor­ malities reflect the time the noxious agent interfered with neural development, rather than the nature of the noxious agent. The vulnerability of the various structures to adverse agents is greatest during the period of most active growth and development.
    [Show full text]
  • 16P11.2 Deletion and Duplication: Characterizing Neurologic Phenotypes in a Large Clinically Ascertained Cohort Kyle J
    ORIGINAL ARTICLE 16p11.2 Deletion and Duplication: Characterizing Neurologic Phenotypes in a Large Clinically Ascertained Cohort Kyle J. Steinman,1* Sarah J. Spence,2 Melissa B. Ramocki,3 Monica B. Proud,4 Sudha K. Kessler,5 Elysa J. Marco,6 LeeAnne Green Snyder,7 Debra D’Angelo,8 Qixuan Chen,8 Wendy K. Chung,9 and Elliott H. Sherr,6 on behalf of the Simons VIP Consortium 1University of Washington and Seattle Children’s Research Institute, Seattle, Washington 2Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts 3University Otolaryngology, Providence, Rhode Island 4Baylor College of Medicine, Houston, Texas 5Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania 6University of California, San Francisco, San Francisco, California 7Clinical Research Associates, New York, New York 8Mailman School of Public Health, Columbia University, New York, New York 9Columbia University Medical Center, New York, New York Manuscript Received: 12 August 2015; Manuscript Accepted: 13 June 2016 Chromosome 16p11.2 deletions and duplications are among the most frequent genetic etiologies of autism spectrum How to Cite this Article: disorder (ASD) and other neurodevelopmental disorders, Steinman KJ, Spence SJ, Ramocki MB, but detailed descriptions of their neurologic phenotypes Proud MB, Kessler SK, Marco EJ, Green have not yet been completed. We utilized standardized ex- Snyder LA, D’Angelo D, Chen Q, Chung amination and history methods to characterize a neurologic WK, Sherr EH, on behalf of the Simons phenotype in 136 carriers of 16p11.2 deletion and 110 carriers VIP Consortium. 2016. 16p11.2 Deletion of 16p11.2 duplication—the largest cohort to date of uni- and Duplication: Characterizing neurologic formly and comprehensively characterized individuals with phenotypes in a large clinically ascertained the same 16p copy number variants (CNVs).
    [Show full text]
  • 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).
    [Show full text]
  • 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.
    [Show full text]
  • 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.
    [Show full text]