Anencephalic Fetus with Craniospinal Rachischisis - Case Report
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M ONITOR a Semi-Annual Data and Research Update Texas Department of Health, Bureau of Epidemiology
Texas Birth Defects M ONITOR A Semi-Annual Data and Research Update Texas Department of Health, Bureau of Epidemiology VOLUME 10, NUMBER 1, June 2004 FROM THE DIRECTOR The web site also has a useful glossary linked to risk factor summaries for a number of birth defects. INTERACTIVE WEB PAGE ALLOWS EASY RESEARCH SYMPOSIUM ACCESS TO TEXAS BIRTH DEFECTS DATA Birth defects data were recently highlighted at the Texas In partnership with Texas Department of Health's Center for Birth Defects Research Symposium on April 9 in San Anto- Health Statistics, birth defects data are now available on the nio. The following speakers provided insight into the causes Texas Health Data web site. Visitors to the site (http://soup- of birth defects: fin.tdh.state.tx.us/) will be able to query data from the Texas Birth Defects Registry. Linking Birth Defects and the Environment, with Prelimi- nary Findings from an Air Pollution Study in Texas (Peter The Registry uses active surveillance to collect information Langlois, Ph.D., TBDMD and Suzanne Gilboa, M.H.S., U.S. about infants and fetuses with birth defects, born to women Environmental Protection Agency) residing in Texas. Data are presented for 49 defect catego- ries, plus a category for “infants and fetuses with any moni- Neural Tube Defects: Multiple Risk Factors Among the tored birth defect” beginning with deliveries in 1999, when Texas-Mexico Border Population (Lucina Suarez, Ph.D., the Texas Birth Defects Registry became statewide. Texas Department of Health) The Embryonic Consequences of Abnormal -
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. -
CASE REPORT Congenital Posterior Atlas Defect Associated with Anterior
Acta Orthop. Belg., 2007, 73, 282-285 CASE REPORT Congenital posterior atlas defect associated with anterior rachischisis and early cervical degenerative disc disease : A case study and review of the literature Dritan PASKU, Pavlos KATONIS, Apostolos KARANTANAS, Alexander HADJIPAVLOU From the University of Crete Heraklion, Greece A rare case of a wide congenital atlas defect is report- diagnosed posterior atlas defect coexisting with an ed. A 25 year-old woman was admitted after com- anterior rachischisis, presenting with radicular arm plaints of radicular pain in the right arm. pain resistant to conservative therapy. In addition, a Radiographs incidentally revealed aplasia of the pos- review of the literature is presented with emphasis terior arch of the atlas together with anterior rachis- on the possibility of the association between the chisis. A review of the literature is presented and a atlas defect and early disc degeneration. possible association with early disc degeneration is discussed. CASE REPORT Keywords : spine ; congenital disorders ; computed tomography ; MR imaging ; disc degeneration. A 25 year-old woman presented with neck pain radiating to the right arm over the last 5 days. She also reported intermittent neck and arm pain for the INTRODUCTION past 4 years. The patient had consulted in our hos- pital for an episode of cervical pain one year previ- Malformations of the atlas are relatively rare and ously without arm pain but was discharged from exhibit a wide range including aplasia, hypoplasia the emergency department without any radiological and various arch clefts (2, 15). The reported inci- examination. Her symptoms deteriorated with neck dence in a large study of 1,613 autopsies with flexion, with pain referred to the upper thoracic regard to presence of congenital aplasia is 4% for the posterior arch and 0.1% for the anterior arch (5- 8). -
Autosomal Recessive Klippel-Feil Syndrome
J Med Genet: first published as 10.1136/jmg.19.2.130 on 1 April 1982. Downloaded from Journal ofMedical Genetics, 1982, 19, 130-134 Autosomal recessive Klippel-Feil syndrome ELIAS OLIVEIRA DA SILVA From the Departamento de Biologia Geral, SecCdo de Genetica, Universidade Federal de Pernambuco, and Instituto Materno-Infantil de Pernambuco (IMIP), Recife, Brazil SUMMARY An inbred kindred with 12 cases of Klippel-Feil syndrome (seven females and five males) is reported. Inheritance is undoubtedly autosomal recessive. The main characteristic of the syndrome is fusion of cervical vertebrae. In 1912, Klippel and Feill reported the first clinical Methods details and necropsy findings of a syndrome char- acterised by the triad short or absent neck, severe A total of 59 members of the family, including all limitation of head movement, and low posterior living affected persons (11), were clinically examined hairline. An Egyptian mummy (from 500 BC) is the and radiological studies were performed in eight oldest subject in whom Klippel-Feil syndrome has patients. The other three refused to submit to been seen.2 Another interesting observation is the x-ray examination. The patients ranged in age from similarity between the figure of an old man depicted 9 to 59 years. by the English painter William Blake (1757-1827) The genealogical data was collected with the co- and the appearance of persons with Klippel-Feil operation of people in four generations and, in case syndrome.3 The incidence of the syndrome is of doubtful information, it was checked with estimated at about 1 in 42 000 births.4 Some authors different members of the family. -
Cleidocranial Dysplasia with Spina Bifida: Case Report [I] Displasia Cleido-Craniana Com Espinha Bífida: Relato De Caso
ISSN 1807-5274 Rev. Clín. Pesq. Odontol., Curitiba, v. 6, n. 2, p. 179-184, maio/ago. 2010 Licenciado sob uma Licença Creative Commons [T] CleidoCranial dysplasia with spina bifida: case report [I] Displasia cleido-craniana com espinha bífida: relato de caso [A] Mubeen Khan[a], rai puja[b] [a] Professor and head of Department of Oral Medicine and Radiology Government Dental College and Research Institute, Bangalore - India. [b] Postgraduate student, Department of Oral Medicine and Radiology, Government Dental College and Research Institute, Bangalore - India, e-mail: [email protected] [R] abstract oBJeCtiVe: To present and discuss a case of a rare disease in a 35 year old otherwise healthy male Indian in origin reported to the Department of Oral Medicine and Radiology of the Dental College and Research Institute, Bangalore, India. disCUssion: The cleidocranial dysplasia is a rare disease which can occur either spontaneously (40%) or by an autosomal dominant inheritance. The dentists are, most of the times, the first professionals who patients look for to solve their problem, since there is a delay in the eruption and /or absence of permanent teeth. In the present case multiple missing teeth was the reason for patient’s visit to odontologist. ConClUsion: An early diagnosis allows proper orientation for the treatment, offering a better life quality for the patient. [P] Keywords: Cleidocranial dysplasia. Aplastic clavicles. Delayed eruption. Supernumerary teeth. Spina bifida. [B] Resumo OBJETIVO: Apresentar e discutir um caso de doença rara em paciente masculino, de 35 anos de idade, sadio, de modo geral, de origem indiana, que foi encaminhado ao Departamento de Medicina Bucal e Radiologia da Escola de Odontologia e Instituto de Pesquisa, Bangalore, Índia. -
Anencephalic Fetus with Craniospinal Rachischisis – Case Report
Case Study International Journal of Research - GRANTHAALAYAH ISSN (Online): 2350-0530 May 2021 9(5), 24–29 ISSN (Print): 2394-3629 ANENCEPHALIC FETUS WITH CRANIOSPINAL RACHISCHISIS – CASE REPORT 1 Ayse KONAC 1Gelisim University Health Sciences, Istanbul, Turkey ABSTRACT Anencephaly, in which a substantial part of the brain, skull, or scalp is miss- ing, is a lethal neural tube defect (NTD) that occurs during the fourth week of pregnancy after failed cranial neuropore closure. One in every 1,000 births is anencephalic, and newborns with this NTD are not viable or treatable. Associ- ated with anencephaly is rachischisis, or severe incomplete neural tube closure and exposure of the spinal cord. Ultrasonography can quickly diagnose anen- cephaly. Like other NTDs, nutritional and environmental factors both play a role in the development of anencephaly. Here, we report and discuss an unusual case of a 12-week gestation anencephalic fetus with craniospinal rachischisis and its embryological roots. In our case, except from the low socio-economic life of the patient, the Received 18 April 2021 absence of a predisposing factor that could cause such an anomaly, the abor- Accepted 4 May 2021 tion being in the irst trimester and the occurrence in the irst pregnancy of the Published 31 May 2021 patient as a result of 5-year infertility made us think that pathology examination Corresponding Author of the abortus material is important in complet or incomplete abortions. Ayse KONAC, ayse.konac1@gmail. com DOI 10.29121/ Keywords: Anencephaly, Neural Tube Defect, Rachischisis, İncomplet Abortion, granthaalayah.v9.i5.2021.3899 First Trimester Funding: This research received no speciic grant from any funding agency in the public, commercial, or not-for-proit sectors. -
Spina Bifida
A Guide for School Personnel Working With Students With Spina Bifida Developed by The Specialized Health Needs Interagency Collaboration Patty Porter, M.S. Barbara Obst, R.N. Andrew Zabel, Ph.D. In partnership between Kennedy Krieger Institute and the Maryland State Department of Education Division of Special Education/Early Intervention Services December 2009 A Guide for School Personnel Working With Students With Spina Bifida Developed by the Kennedy Krieger Institute in partnership with the Maryland State Department of Education, Division of Special Education/Early Intervention Services December 2009 This document was produced by the Maryland State Department of Education, Division of Special Education/Early Intervention Services through IDEA Part B Grant #H027A0900035A, U.S. Department of Education, Office of Special Education and Rehabilitative Services. The views expressed herein do not necessarily reflect the views of the U.S. Department of Education or any other federal agency and should not be regarded as such. The Division of Special Education/Early Intervention Services receives funding from the Office of Special Education Program, Office of Special Education and Rehabilitative Services, U.S. Department of Education. This document is copyright free. Readers are encouraged to share; however, please credit the MSDE Division of Special Education/Early Intervention Services and Kennedy Krieger Institute. The Maryland State Department of Education does not discriminate on the basis of race, color, sex, age, national origin, religion, disability, or sexual orientation in matters affecting employment or in providing access to programs. For inquiries related to Department policy, contact the Equity Assurance and Compliance Branch, Office of the Deputy State Superintendent for Administration, Maryland State Department of Education, 200 West Baltimore Street, 6th Floor, Baltimore, MD 21201-2595, 410-767-0433, Fax 410-767-0431, TTY/TDD 410-333-6442. -
Closed Spinal Dysraphism and Tethered Cord
ACNRSO14_Layout 1 04/09/2014 22:14 Page 28 NEUROSURGERY ARTICLE Ruth-Mary deSouza trained in medicine at Closed Spinal Dysraphism Guy’s, Kings and St Thomas Medical School and graduated in 2008. She entered the London and Tethered Cord Neurosurgery training programme in 2010 and is currently an ST5 trainee on the South Thames Syndrome: A Review of Neurosurgery programme. David Frim Multidisciplinary Team Management is Professor of Surgery, Neurology and Paediatrics at the University of Chicago. He is an Summary internationally recognised • Embryology of spinal dysraphism clinical Neurosurgeon and Neurosciences Researcher • Clinical features of tethered cord syndrome who specialises in the care • Multidisciplinary management of closed spinal dysraphism of children and adults with congenital neurosurgical problems. Currently, Dr Frim serves as principal investigator on laboratory studies related to neural injury and clinical studies focusing on Abstract outcomes after treatment of congenital anomalies of the nervous system especially as related to cognition. The initial diagnosis as well as the long term management of occult spinal dysraphism and Dr Frim is joint senior author of the article. tethered spinal cord is often managed by a large number of healthcare professionals including Paediatricians, GPs, Neurologists, Neurosurgeons, Rehabilitation Physicians and Paige Terrien Church Therapists. We review the entity of spinal dysraphism. An approach to the evaluation and is an Assistant Professor of diagnosis of these entities is subsequently discussed. In addition, concepts involved in the Paediatrics at the pathophysiology, neurosurgical repair, and outcome are presented in the context of postop - University of Toronto. She is the Director of the erative management issues that rely upon the knowledge of all professionals who may Neonatal Follow Up Clinic encounter these patients. -
Beyond Crayons
THE JEFFRAS’ PROGRAM THAT PROMOTES A HEALTHY SCHOOL ENVIRONMENT FOR STUDENTS WITH SPINA BIFIDA SECTION 504 PLAN Background Plan Objectives & Goals Spina Bifida is the most common permanently Successful integration of a child with Spina Bifida disabling birth defect in the United States. Spina into school sometimes requires changes in school Bifida occurs when the spine of the baby fails to equipment or the curriculum. In adapting the school close. This creates an opening, or lesion, on the setting for the child with Spina Bifida, architectural spinal column. This takes place during the first factors should be considered. Section 504 of the month of pregnancy when the spinal column and Rehabilitation Act of 1973 requires programs that brain, or neural tube, is formed. This happens before receive federal funding to make their facilities most women even know they are pregnant. Because accessible. This can occur through structural of the opening on the spinal column, the nerves in changes (for example, adding elevators or ramps) or the spinal column may be damaged and not work through schedule and location changes (for properly. This results in some degree of paralysis. example, offering a course on the ground floor). The higher the lesion is on the spinal column, the greater the paralysis. Surgery to close the spine is The Student has a recognized disability, Spina Bifida, generally done within hours after birth. Surgery helps that requires the accommodations and modifications to reduce the risk of infection and to protect the set out in this plan to ensure that the student has the spinal cord from greater damage. -
Lumbar Spondylolysis in Adolescent Athletes Joseph P
■ BRIEF REPORT Lumbar Spondylolysis in Adolescent Athletes Joseph P. Garry, MD, and John McShane, MD Greenville, North Carolina Lumbar spondylolysis is a common cause of low back pain in adolescent athletes. The early diagnosis and treat ment of this condition will result in decreased morbidity and an earlier return to full activity for most patients. We report a case of lumbar spondylolysis in an adolescent athlete and review current diagnosis and management of this condition. KEY WORDS. Spondylolysis; adolescent; back pain; athlete. (J Fam Pract 1998; 46:145-149) he national explosion of competitive athletics onset of the low back pain was insidious, without a his has led to increasing participation of adoles tory of trauma. At presentation, the pain was described cents in organized team sports. Up to one half as a sharp, right-sided, lower lumbar and buttock pain of boys and one fourth of girls between the brought on during soccer practice while running and ages of 14 and 17 participate in some form of kicking, and was relieved with rest. No radicular symp organizedT team sport.1 The increase in the number of toms were described. The patient denied any previous adolescent athletes has resulted in more adolescent low back pain. Past medical history was unremarkable. complaints of low back pain.2 The lifetime prevalence of Physical examination revealed painful palpation of low back pain among 11- to 17-year-olds in the United the lower right lumbar spine with bilateral paraspinal States is reported to be 30.4%.3 Often, many young ath muscle spasm. -
PE056 Spina Bifida
Spina Bifida What is Spina Bifida is also called a neural tube defect. It happens when the neural Spina Bifida? tube, which includes the brain and spine of the embryo, does not close. This happens during the first month of pregnancy, often before the mother knows she is pregnant. There are many forms of neural tube defects. Spina Bifida Occulta In this form, there is an opening in one or more of the bones (vertebrae) (oh-cull-tuh) that make up the spine. These openings can be seen by X-ray only. The spinal cord, nerves and skin covering are normal. In fact, up to 10% of all Americans may have this most mild form of the spina bifida. In most cases Spina Bifida Occulta causes no problems. Spina Bifida Aperta In these forms, the neural tube does not close, and parts of the bones (ay-per-tuh) (vertebrae) that make up the spine are missing. A cyst or lump pokes out from the opening in the spine. There are 2 types of spina bifida aperta: Meningocele (muh-ninge-oh-seal) The cyst is covered with skin and most of the time there is minimal, if any, paralysis. Most children with meningocele grow normally. Your child with meningocele should be checked for fluid on the brain (hydrocephalus) and bowel and bladder problems so they can be treated promptly. Meningomyelocele (muh-ninge-oh-my-uh-low-seal) This is the most severe form of neural tube defect. The open defect contains nerve roots of the spinal cord and the cord itself. -
Spina Bifida
Spina bifida Description Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect. Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is contained in the sac. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood. In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally.