16P11.2 Deletion and Duplication: Characterizing Neurologic Phenotypes in a Large Clinically Ascertained Cohort Kyle J
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Optic Nerve Hypoplasia Plus: a New Way of Looking at Septo-Optic Dysplasia
Optic Nerve Hypoplasia Plus: A New Way of Looking at Septo-Optic Dysplasia Item Type text; Electronic Thesis Authors Mohan, Prithvi Mrinalini Publisher The University of Arizona. Rights Copyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author. Download date 29/09/2021 22:50:06 Item License http://rightsstatements.org/vocab/InC/1.0/ Link to Item http://hdl.handle.net/10150/625105 OPTIC NERVE HYPOPLASIA PLUS: A NEW WAY OF LOOKING AT SEPTO-OPTIC DYSPLASIA By PRITHVI MRINALINI MOHAN ____________________ A Thesis Submitted to The Honors College In Partial Fulfillment of the Bachelors degree With Honors in Physiology THE UNIVERSITY OF ARIZONA M A Y 2 0 1 7 Approved by: ____________________________ Dr. Vinodh Narayanan Center for Rare Childhood Disorders Abstract Septo-optic dysplasia (SOD) is a rare congenital disorder that affects 1/10,000 live births. At its core, SOD is a disorder resulting from improper embryological development of mid-line brain structures. To date, there is no comprehensive understanding of the etiology of SOD. Currently, SOD is diagnosed based on the presence of at least two of the following three factors: (i) optic nerve hypoplasia (ii) improper pituitary gland development and endocrine dysfunction and (iii) mid-line brain defects, including agenesis of the septum pellucidum and/or corpus callosum. A literature review of existing research on the disorder was conducted. The medical history and genetic data of 6 patients diagnosed with SOD were reviewed to find damaging variants. -
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. -
Polymicrogyria (PMG) ‘Many–Small–Folds’
Polymicrogyria Dr Andrew Fry Clinical Senior Lecturer in Medical Genetics Institute of Medical Genetics, Cardiff [email protected] Polymicrogyria (PMG) ‘Many–small–folds’ • PMG is heterogeneous – in aetiology and phenotype • A disorder of post-migrational cortical organisation. PMG often appears thick on MRI with blurring of the grey-white matter boundary Normal PMG On MRI PMG looks thick but the cortex is actually thin – with folded, fused gyri Courtesy of Dr Jeff Golden, Pen State Unv, Philadelphia PMG is often confused with pachygyria (lissencephaly) Thick cortex (10 – 20mm) Axial MRI 4 cortical layers Lissencephaly Polymicrogyria Cerebrum Classical lissencephaly is due Many small gyri – often to under-migration. fused together. Axial MRI image at 7T showing morphological aspects of PMG. Guerrini & Dobyns Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 2014 Jul; 13(7): 710–726. PMG - aetiology Pregnancy history • Intrauterine hypoxic/ischemic brain injury (e.g. death of twin) • Intrauterine infection (e.g. CMV, Zika virus) TORCH, CMV PCR, [+deafness & cerebral calcification] CT scan • Metabolic (e.g. Zellweger syndrome, glycine encephalopathy) VLCFA, metabolic Ix • Genetic: Family history Familial recurrence (XL, AD, AR) Chromosomal abnormalities (e.g. 1p36 del, 22q11.2 del) Syndromic (e.g. Aicardi syndrome, Kabuki syndrome) Examin - Monogenic (e.g. TUBB2B, TUBA1A, GPR56) Array ation CGH Gene test/Panel/WES/WGS A cohort of 121 PMG patients Aim: To explore the natural history of PMG and identify new genes. Recruited: • 99 unrelated patients • 22 patients from 10 families 87% White British, 53% male ~92% sporadic cases (NB. ascertainment bias) Sporadic PMG • Array CGH, single gene and gene panel testing - then a subset (n=57) had trio-WES. -
Reportable BD Tables Apr2019.Pdf
April 2019 Georgia Department of Public Health | Division of Health Protection | Maternal and Child Health Epidemiology Unit Reportable Birth Defects with ICD-10-CM Codes Reportable Birth Defects in Georgia with ICD-10-CM Diagnosis Codes Table D.1 Brain Malformations and Neural Tube Defects ICD-10-CM Diagnosis Codes Birth Defect ICD-10-CM 1. Brain Malformations and Neural Tube Defects Q00-Q05, Q07 Anencephaly Q00.0 Craniorachischisis Q00.1 Iniencephaly Q00.2 Frontal encephalocele Q01.0 Nasofrontal encephalocele Q01.1 Occipital encephalocele Q01.2 Encephalocele of other sites Q01.8 Encephalocele, unspecified Q01.9 Microcephaly Q02 Malformations of aqueduct of Sylvius Q03.0 Atresia of foramina of Magendie and Luschka (including Dandy-Walker) Q03.1 Other congenital hydrocephalus (including obstructive hydrocephaly) Q03.8 Congenital hydrocephalus, unspecified Q03.9 Congenital malformations of corpus callosum Q04.0 Arhinencephaly Q04.1 Holoprosencephaly Q04.2 Other reduction deformities of brain Q04.3 Septo-optic dysplasia of brain Q04.4 Congenital cerebral cyst (porencephaly, schizencephaly) Q04.6 Other specified congenital malformations of brain (including ventriculomegaly) Q04.8 Congenital malformation of brain, unspecified Q04.9 Cervical spina bifida with hydrocephalus Q05.0 Thoracic spina bifida with hydrocephalus Q05.1 Lumbar spina bifida with hydrocephalus Q05.2 Sacral spina bifida with hydrocephalus Q05.3 Unspecified spina bifida with hydrocephalus Q05.4 Cervical spina bifida without hydrocephalus Q05.5 Thoracic spina bifida without -
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. -
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. -
MR Imaging of N Euronal Migration Anomaly
대 한 방 사 선 의 학 회 지 1991; 27(3) : 323~328 Journal of Korean Radiological Society. May. 1991 MR Imaging of N euronal Migration Anomaly Hyun Sook Hong, M.D., Eun Wan Choi, M.D., Dae Ho Kim, M.D., Moo Chan Chung, M.D., Kuy Hyang Kwon, M.D., Ki Jung Kim, M.D. Department o[ RadíoJogy. Col1ege o[ Medícine. Soonchunhyang University patients ranged in age from 5 months to 42 years with Introduction a mean of 16 years. The mean age was skewed by 2 patients with schizencephaly who were 35 and 42 Abnormalities of neuronal migration Sl re years old. characterized by anectopic location of neurons in the MR was performed with a 0:2T permanent type cerebral cortex (1-9). This broad group of anomalies (Hidachi PRP 20). Slice thickness was 5mm with a includes agyria. pachygyria. schizencephaly. 2.5mm interslice gap or 7.5mm thickness. Spin echo unilateral megalencephaly. and gray matter axial images were obtained. including Tl weighted hcterotopia. Patients with this anomaly present images (TIWI) with a repetition time (TR) of clinically with a variety of symptoms which are pro 400-500ms and echo time (TE) of 25-40ms. in portional to the extent of the brain involved. These termediate images of TR/TE 2000/38. and T2 abnormalities have been characterized pathologically weighted images (T2Wl) with a TR/TE of 2000/110. in vivo by sonography and CT scan (2. 3. 10-14. Occasionally. sagittal and coronal images were ob 15-21). tained. Gd-DTPA enhanced Tl WI were 려 so obtain MR appears to be an imaging technique of choice ed in 6 patients. -
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. -
Extensive Arachnoid Ossification with Associated Syringomyelia Presenting As Thoracic Myelopathy Case Report and Review of the Literature
Neurosurg Focus 6 (5):Article 9, 1999 Extensive arachnoid ossification with associated syringomyelia presenting as thoracic myelopathy Case report and review of the literature Konstantin V. Slavin, M.D., Randall R. Nixon, M.D., Ph.D., Gary M. Nesbit, M.D., and Kim J. Burchiel, M.D., F.A.C.S. Departments of Neurological Surgery, Pathology, and Radiology, Oregon Health Sciences University, Portland, Oregon The authors present the case of a patient in whom progressive thoracic myelopathy was caused by the extensive ossification of the arachnoid membrane and associated intramedullary syrinx. Based on their findings and the results of a literature search, they describe a pathological basis of this rare condition, discuss its incidence and symptomatology, and suggest a simple classification of various types of the arachnoid ossification. They also discuss magnetic resonance imaging features of arachnoid ossification and associated spinal cord changes. Emphasis is placed on the particular value of plain computerized tomography, which is highly sensitive for detecting intraspinal calcifications and ossifications, in the diagnostic evaluation of patients whose clinical picture indicates progressive myelopathy. Key Words * arachnoiditis * ossification * myelopathy * syringomyelia * thoracic spine Of the various causes of spinal cord compression, calcification and ossification of the arachnoid membrane are relatively rare. It appears that there are three distinct types of calcification, of which two carry some clinical significance due to the production of symptoms. The first type, with microscopic calcifications, is frequently encountered in asymptomatic patients during spine surgeries and in autopsy series of the general population. The second type involves formation of large isolated calcified and ossified plaques within, and adjacent to, the arachnoid membrane. -
Electrophysiologic Abnormalities in a Patient with Syringomyelia Referred
DO I:10.4274/tnd.04372 Turk J Neurol 2018;24:186-187 Letter to the Editor / Editöre Mektup Electrophysiologic Abnormalities in a Patient with Syringomyelia Referred for Asymmetrical Lower Limb Atrophy Asimetrik Alt Ekstremite Atrofisi ile Başvuran Bir Siringomiyeli Olgusunda Elektrofizyolojik Bozukluklar Onur Akan1, Mehmet Barış Baslo2 1Istanbul Okmeydani Training and Research Hospital, Clinic of Neurology, Istanbul, Turkey 2Istanbul University Istanbul Faculty of Medicine, Department of Neurology, Istanbul, Turkey Keywords: Syringomyelia, electrophysiology, limb atrophy Anahtar Kelimeler: Siringomiyeli, elektrofizyoloji, ekstremite atrofisi Dear Editor, fascia lata, extensor digitorum longus, and extensor digitorum Hydromyelia was first described by Olliver d’Angers as cystic brevis muscles. There was no pathologic spontaneous activity. dilatation of the central spinal cord (1). Chiari described the Electrophysiologic findings were considered as asymmetric hydromyelic cavity, which was related with or not related with the multiradicular involvement affecting the dorsal root ganglion at enlarged central channel, as “syringohydromyelia” (1). Conventional the lumbosacral level. Lumbosacral magnetic resonance imaging nerve conduction studies and needle electromyography (EMG) is showed syringohydromyelia reaching an anterior-posterior very important in evaluating patients with syringomyelia but the diameter of 2-3 mm and a split cord abnormality in the distal findings may not be specific (2). We report a patient presenting spinal cord at the level of L1 vertebra and spina bifida occulta at with asymmetric lower extremity atrophy who was diagnosed as the level of L4-L5 and L5-S1 (Figure 1A, 1B). The asymmetric having a spinal cord abnormality. sensory-motor involvement, pyramidal signs, and lumbosacral A 18-year-old male was admitted with asymmetric lower skin lesion were thought to be caused by the multiradicular extremity atrophy and foot deformity. -
MR of Postoperative Syringomyelia
319 MR of Postoperative Syringomyelia 1 Anthony J. Barkovich ,2 Twenty-seven MR scans of 20 patients surgically treated for syringomyelia were John L. Sherman2,3,4 reviewed. Thirteen patients had syringomyelia associated with the Chiari I malformation, 2 Charles M. Citrin ,3,4 four cases were posttraumatic, and three were idiopathic. The operations performed 1 included syringosubarachnoid and syringoperitoneal shunts, myelotomies, and foramen Franz J. Wippold 11 ,2 magnum decompressions. Three of the foramen magnum decompressions had associ ated posterior fossa duroplasties, two had fourth-ventricle-to-subarachnoid shunts, and two had plugging at the obex. On 20 scans of patients in whom the syrinx cavity had been shunted, the shunt catheter was seen in 15 (75%). When adequately treated by shunting, syringes are completely collapsed and show no flow void. Nine patients were treated by foramen magnum decompression; all were well seen by MR. Three of these patients had a poor clinical result; these were the only patients in whom CSF was not seen between the foramen magnum and the neural structures of the posterior fossa on any images. The proposed mechanisms of syrinx formation and extension are discussed and related to the surgical procedures used to treat syringomyelia. Syringomyelia is a disorder of the spinal cord characterized by the presence of fluid-filled cavities within the cord substance. When the cavity is a dilated central canal of the spinal cord, the term hydromyelia has been applied , reserving the term syringomyelia for cavities in the cord extending lateral to or independent of the central canal [1]. The term syringohydromyelia reflects this difficulty in classification [2].