Birth Defect Series: Encephalocele

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Birth Defect Series: Encephalocele What: Very early during pregnancy your baby’s brain, skull, and spine begin to develop. An encephalocele occurs when the baby’s skull does not come together completely over the brain. This causes parts of the brain to bulge through the skull. Resources for Illinois Why: Encephaloceles are known as neural tube defects. The neural Families · · · tube is the early form of what will become your baby’s brain and spinal cord. Neural tube defects occur during the first month of Adverse Pregnancy Outcomes Reporting pregnancy. Specific causes of most encephaloceles are not known at System http://www.dph.illinois.gov/ this time. Some neural tube defects may be caused by a lack of folic data-statistics/epidemiology/ apors acid. Folic acid is an important vitamin needed in the development of the neural tube. Doctors recommend that women who can get Centers for Disease pregnant get 400mcg (micrograms) of folic acid daily. Control and Prevention http://www.cdc.gov/ncbddd/ birthdefects/ encephalocele.html When: Encephaloceles are usually detected during pregnancy with the help of an ultrasound machine. However, small encephaloceles March of Dimes http:// may be detected after birth only. www.marchofdimes.org/ baby/neural-tube- defects.aspx How: Surgery is typically needed to repair encephaloceles. During surgery parts of the brain that are not functioning are removed, And visit your bulging brain parts are placed within the skull, and any facial de- doctor for more fects may be repaired. Babies with small encephaloceles may re- information. cover completely. Those with large amounts of brain tissue within the encephalocele may need other therapies following surgery. Image courtesy of the Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities. .

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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.
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Neural Tube Defects, Folic Acid and Methylation
Int. J. Environ. Res. Public Health 2013, 10, 4352-4389; doi:10.3390/ijerph10094352 OPEN ACCESS International Journal of Environmental Research and Public Health ISSN 1660-4601 www.mdpi.com/journal/ijerph Review Neural Tube Defects, Folic Acid and Methylation Apolline Imbard 1,2,*, Jean-François Benoist 1 and Henk J. Blom 2 1 Biochemistry-Hormonology Laboratory, Robert Debré Hospital, APHP, 48 bd Serrurier, Paris 75019, France; E-Mail: [email protected] 2 Metabolic Unit, Department of Clinical Chemistry, VU Free University Medical Center, De Boelelaan 1117, Amsterdam 1081 HV, The Netherlands; E-Mail: [email protected] * Author to whom correspondence should be addressed; E-Mail: [email protected]; Tel.: +33-1-4003-4722; Fax: +33-1-4003-4790. Received: 27 July 2013; in revised form: 30 August 2013 / Accepted: 3 September 2013 / Published: 17 September 2013 Abstract: Neural tube defects (NTDs) are common complex congenital malformations resulting from failure of the neural tube closure during embryogenesis. It is established that folic acid supplementation decreases the prevalence of NTDs, which has led to national public health policies regarding folic acid. To date, animal studies have not provided sufficient information to establish the metabolic and/or genomic mechanism(s) underlying human folic acid responsiveness in NTDs. However, several lines of evidence suggest that not only folates but also choline, B12 and methylation metabolisms are involved in NTDs. Decreased B12 vitamin and increased total choline or homocysteine in maternal blood have been shown to be associated with increased NTDs risk. Several polymorphisms of genes involved in these pathways have also been implicated in risk of development of NTDs.
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Encephalocele
Encephalocele An encephalocele (pronounced en-sef-a-lo-seal) is a rare birth defect affecting the brain. It is one type of neural tube defect. The neural tube What is it? is a channel that usually folds and closes during the first few weeks of pregnancy. Normally, it forms the brain and spinal cord. Neural tube defects occur when the neural tube does not close as a baby grows in the womb. Neural tube defects can range in size and occur anywhere along the neck or spine. An encephalocele is a sac-like projection of brain tissue and membranes outside the skull. Encephaloceles can be on any part of the head but often occur on the back of the skull, as pictured below. Encephalocele Image courtesy of the Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities Children with an encephalocele may have additional birth defects, such as hydrocephalus, microcephaly, seizures, developmental delay, intellectual disability, and problems with coordination or movement. Hydrocephalus is extra fluid around the brain and is also called “water on the brain.” Microcephaly is a small head size. About 375 babies in the United States are born with an encephalocele How common is it? each year. That’s about 1 in every 10,000 babies. The cause of encephaloceles is unknown in most babies. There may be many factors that cause it. Taking folic acid can decrease the chance of having a baby with neural tube defects. Women who want to become What causes it? pregnant or are pregnant should take folic acid every day.
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Chapter 5 Vitamin B12 in Pregnancy – Preparing for a Healthy Child
Chapter 5 Vitamin B12 in pregnancy – preparing for a healthy child To shame what is strong, God has chosen what the world counts as weakness. He has chosen things low and contemptible, near nothings, to overthrow the existing order. 1 Corinthians 1:27b to 30 Chapter 5 Vitamin B12 in pregnancy – preparing for a healthy child page 103 Figure 5-1 Preventive programme summary 4 to 6 months before pregnancy: Routine blood test for: FBC + B12 + folic acid, serum ferritin, fasting blood sugar, TSH - T3 - Mother and Father should: T4, LFT + U+E, Lipid/Vitamin D/AM Cortisol Stop smoking (CO + CN poisoning). (if indicated). Reduce alcohol consumption. Follow up one- to three-monthly as required. Follow a healthy balanced diet. Newborn: Withdraw and stop any harmful or unneeded prescription medication. Routine B12 and folic acid screening test in thee newborn, along with current practice of Guthrierie Avoid stress and have adequate rest and leisure and phenylketonuria. activities. Commence without delay optimum replacementent therapytherapy Identify vegetarian and vegan would-be mothers, for any of the above deficiencies diagnosed. advise appropriately and follow them up monthly. Achieve these beneficial results: Avoid these potential problems: Baby advanced neurologically and physically Hypotonia (floppy baby syndrome); (milestones); cleft lip; cleft palate; Down Syndrome; Avoids many neurological and psychiatric diseases in Neural tube defects (NTDs); Spina Bifida; later life: impact on dementia and cancer; Attention Deficit Hyperactivity Disorder (ADHD); foetal Mother enjoys pregnancy and breast-feeding without alcohol spectrum disorder (FASD); Meningocele. fatigue or depression; Mother avoids miscarriages, haemorrhage, postnatal Baby continues to receive B12 and folic acid via breast depression, hair loss, fainting, eclampsia and morning milk – and maternal bonding achieved.
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Neural Tube Defects
R.C.P.U. NEWSLETTER Editor: Heather J. Stalker, M.Sc. Director: Roberto T. Zori, M.D. R.C. Philips Research and Education Unit Vol. XIII No. 2 A statewide commitment to the problems of mental retardation December 2000 R.C. Philips Unit ¨Tacachale Center ¨ 1621 NE Waldo Rd. ¨ Gainesville, FL 32609 ¨ (352)392-4104 E Mail: [email protected]; [email protected] Website: www.ufgenetics.org Neural Tube Defects Introduction is a vertebral defect on the back through which cerebrospinal fluid, nerve roots, and the spinal Neural tube defects (NTD) are birth defects that cord may protrude. The defect is typically may involve the vertebrae, spinal cord, and brain. covered with a membrane. The exposed and The NTDs vary in severity from the typically stretched nerve roots and spinal cord may be asymptomatic spina bifida occulta to the lethal damaged leading to neurological complications. anencephaly. Survivors with significant NTDs typically have a plethora of medical as well as The other major type of NTD, anencephaly, is neurological/developmental problems. much more severe. Anencephaly is caused by lack of closure of the very top of the neural tube. NTDs occur in about 1/1000 to 1/2000 live births There is incomplete development of the majority in the US. In Florida during 1996 (the most recent of the brain and the skull. Many of these babies year we have complete data for) there were 105 are stillborn and the remainder die early in life. live born infants with spina bifida and 13 liveborn Anencephaly accounts for about 25% of all infants with anencephaly reported to the Birth NTDs.
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Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (Vii)
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Fetal Holoprosencephaly Fatima AL-Khawaja1, Mary J Madut2, Gamal Abdo3, Helmi Noor4, Badreldeen Ahmed5
CASE REPORT Fetal Holoprosencephaly Fatima AL-khawaja1, Mary J Madut2, Gamal Abdo3, Helmi Noor4, Badreldeen Ahmed5 ABSTRACT Holoprosencephaly is a birth defect that leads to an abnormal brain development where the brain fails to divide into two hemispheres. Possible causes are environmental or genetic factors. Holoprosencephaly can include craniofacial abnormalities in most of the cases. Here we report a case of delayed diagnosis of holoprosencephaly with cyclopia, proboscis, and ethmocephaly. Keywords: Antenatal ultrasound, Fetal malformation, Holoprosencephaly. Donald School Journal of Ultrasound in Obstetrics and Gynecology (2020): 10.5005/jp-journals-10009-1629 BACKGROUND 1Weill Medical College, Qatar Holoprosencephaly is a brain malformation with a prevalence of 2–4University of Medical Science and Technology, Khartoum, Sudan 1,2 1:16,000 live births and 1:250 during early embryonic development. 5Weill Medical College, Qatar; Fetal Maternal Center, Doha, Qatar; It is a condition in which the prosencephalon fails to divide into left Qatar University, Doha, Qatar and right hemispheres between the 4th and 8th weeks of gestation. Corresponding Author: Badreldeen Ahmed, Weill Medical College, Holoprosencephaly can also be associated with craniofacial Qatar; Fetal Maternal Center, Doha, Qatar; Qatar University, Doha, deformities alongside the brain abnormalities. The etiology of Qatar, Phone: +97455845583, e-mail: [email protected] holoprosencephaly could be genetic or environmental. Examples How to cite this article: AL-khawaja F, Madut MJ, Abdo G, et al. Fetal of genetic factors are trisomies 13 and 18 or certain deletions like Holoprosencephaly. Donald School J Ultrasound Obstet Gynecol 3 18p, 7q, 2p, and 21q. The environmental factors that could play a 2020;14(2):164–166.
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CLINICAL and DIAGNOSTIC FEATURES in Lissencephaly TYPE I
CLINICAL AND DIAGNOSTIC FEATURES IN liSSENCEPHALY TYPE I (Klinische en diagnostische kenmerken van lissencephaly type I) Proefschrift ter verkrijging van de graad van doctor aan de Erasmus Universiteit Rotterdam op gezag van de rector magnificus Prof. Dr. CJ. Rijnvos en volgens het besluit van het college van dekanen. De openbare verdediging zal plaatsvinden op woensdag 16 januari 1991 om 13.45 uur Johanna Frederika de Rijk-van Andel geboren te Rotterdam v.0'\lersite1t& ~...("'"'-!) ()Ji>UKKE~) 1990 Department of Neurology University Hospital Dijkzigt, Rotterdam Promotor: Prof.Dr. A. Staal Co-promotor: Dr. W.F.M. Arts Overige !eden promotiecommissie: Prof.Dr. P.G. Barth Prof.Dr. M.F. Niermeyer Prof.Dr. A.C. van Huffelen The End It is time for me to go, mother; I am going. When in the paling darkness ofthe lonely dawn you stretch out your arms for your baby in the bed, I shall say, "Baby is not there!" - mother I am going. I shall become a delicate draught of air and caress you; and I shall be ripples in the water when you bathe, and kiss you and kiss you again. In the gusty night when the rain patters on the leaves you will hear my whisper in your bed, and my laughter will flash with the lightning through the open window into your room. If you lie awake, thinking of your baby till late into the night, I shall sing to you from the stars, "Sleep mother, sleep." On the straying moonbeams I shall steal over your bed, and lie upon your bosom while you sleep.
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Perioperative Challenges in Patients with Giant Occipital Encephalocele
Published online: 2019-09-26 Case Report Perioperative challenges in patients with giant occipital encephalocele with microcephaly and micrognathia Hukum Singh, Daljit Singh, DP Sharma, Monica S Tandon1, Pragati Ganjoo1 Departments of Neurosurgery and 1Anaesthesia, G. B. Pant Hospital, New Delhi, India ABSTRACT Meninigo-encepahlocoele (MEC ) is a common neurosurgical operation. The size of MEC may vary which has bearing with its management. The association of MEC with micrognathia and microcephaly is rarely reported. The association poses special problem for intubation and maintenance of anaesthesia. Giant MEC may lead to significant CSF loss resulting in hemodynamic alteration. The prior knowledge and care in handling the patient can avoid minor as well as major complications. Key words: Giant meningoencephalocoel, micrognathia, microcephaly Introduction normally and moving all four limbs equally. Child had small jaw, receding chin with no breathing problem. Occipital encephalocele are described as giant Tongue was normal. His weight was 6 kg, and the when they are larger than the head from which they head circumference was 30 cm with a bulging anterior arise.[1] The incidence of encephalocele is 1 per 5000 fontanelle. There was a large occipital swelling which live birth.[2] The association of microcephaly and was tense, cystic measuring 22´ 13 cm arising from posterior part of head. Lower part of swelling was micrognathia is extremely rare and has been attributed to partial deletion of chromosome 13q.[3] We present a extended up to mid-dorsal region [Figure 1]. case of giant occipital encephalocele associated with Trans illumination test of the swelling was positive: microcephaly and micrognathia, a rare entity and in Magnetic resonance imaging (MRI) revealed the cystic particular the associated problems during anesthesia nature of the giant occipital encephalocele with a very and surgical intervention.
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Lissencephaly, Generic Term
Lissencephaly, generic term Author and Scientific Editor: Professor Alan Verloes1 Creation date: March 2004 1Unité de Génétique Clinique, Hôpital Robert Debré, 48 Boulevard Sérurier, 75935 PARIS CEDEX 19, France. mailto:[email protected] Abstract Key-words Definition/Classification Etiology Classic lissencephalies Lissencephaly variants Cobblestone lissencephalies Bibliography Abstract The term lissencephaly, which describes a “smooth” brain, refers to rare malformations that share the absence of normal circumvolutions of the cerebral cortex. There are several types of lissencephaly, and a consensus has been reached for a classification based on associated malformations and etiologies. On the basis of this classification, five major groups of lissencephalies can be recognized: - Classic lissencephalies (previously known as type 1 lissencephalies), which include: lissencephaly due to LIS1 gene mutation (type 1 isolated lissencephaly and Miller-Dieker syndrome), lissencephaly due to doublecortin (DCX) gene mutation, lissencephaly, type 1, isolated, without known genetic defects - Lissencephaly X-linked with agenesis of the corpus callosum (ARX gene) - Lissencephaly with cerebellar hypoplasia - Microlissencephaly - Cobblestone lissencephaly or cobblestone dysplasia (also known as type 2 lissencephaly), which includes Walker-Warburg syndrome or HARD(E) syndrome, Fukuyama syndrome and Muscle-Eye-Brain (MEB) disease. In classic lissencephalies and variants (lissencephaly X linked with agenesis of the corpus callosum; lissencephaly with cerebellar hypoplasia; microlissencephaly), brain MRI shows thickened cortex (10 to 20 mm) and microscopy usually reveals a four-layered cortex, whereas normal cortex consists of six layers. Abnormal cortical thickness and the anarchic cytoarchitectony result from a defective neuronal migration during embryogenesis. In contrast with classic lissencephalies, variants are characterized by extracortical anomalies (total or partial agenesis of the corpus callosum, and/or severe cerebellar hypoplasia).
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Chiari Malformation Type III with Good Outcome: Case-Report and Review of Clinical and Radiological Findings
Journal of Head Neck & Spine Surgery ISSN: 2577-2864 Mini Review J Head Neck Spine Surg Volume 2 Issue 3 - March 2018 Copyright © All rights are reserved by Hosein Safari DOI: 10.19080/JHNSS.2018.02.555590 Chiari Malformation Type III with Good Outcome: Case-Report and Review of Clinical and Radiological Findings Hosein Safari*, Ali Amiri and Akram Zare Department of Neurosurgery, Golestan Hospital & Ahvaz Jundishapur University of Medical Sciences, Iran Submission: February 17, 2018; Published: March 05, 2018 *Corresponding author: Hosein Safari, Department of Neurosurgery, Golestan Hospital & Jundishapur University of Medical Sciences, Ahwaz, Iran, Tel: 986133743032; Email: Abstract Chiari III malformation, one of the rare variants of Chiari malformations, is including a small dysplastic posterior fossa, hydrocephalus, medullary abnormalities, and hindbrain herniation into a low occipital/high cervical encephalocele. This type can be lethal if not treated and is Chiari III malformation that was managed surgically with good outcome in addition, review the radiological, clinical and pathogenesis of Chiari IIIrelated malformation. to severe neurological deficits, so surgical care should immediately be undertaken. We are presenting a 1.5-month-old male infant with Introduction malformation (including a small posterior fossa, herniated Type III Chiari malformation is a very rare condition that dysplastic posterior fossa content, hydrocephalus, medullary kinking, and tectal beaking) [1-5]. In literature, approximately hindbrain herniation into a high cervical encephalocele or low is described by Chiari in 1891.This type of Chiari defined as 60 cases have been reported since 1891 to have Chiari III (Table occipital, and osseous defects with features of type II Chiari 1).
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Multiple Neural Tube Defect: Encephalocele and Lumbosacral Myelomeningocele
31 Review Multiple Neural Tube Defect: Encephalocele and Lumbosacral Myelomeningocele. Case report and literature review Defeitos Múltiplos do Tubo Neural: Encefalocele e Mieomeningocele Lombossacra. Relato de caso e revisão da literatura Moysés Isaac Cohen1,2 Wander da Silva Ferreira2 Renildo Sérgio Batista dos Anjos2 Marcos Robert da Silva Souza3 Cleóstenes Farias do Vale4 ABSTRACT Double neural tube defect is a rare congenital problem. We report a case and discuss about current theories of neural tube closure. A 39 weeks term baby with occipital encephalocele and lumbosacral myelomeningocele is reported and her management is described. A single-staged surgery was performed. The present case is the first described in South America and seems to support a multi-site closure theory. Key words: Spinal dysraphism; Neurulation; Multi-site closure theory; Encephalocele; Myelomeningocele. RESUMO Defeito duplo do tubo neural é um problema congênito raro. As teorias disponíveis do fechamento dos tubos neurais são resumidas e comparadas com o caso descrito. O caso de um bebê a termo de 39 semanas com encefalocele occipital e mielomeningocele lombossacra é relatado juntamente com o seu manejo. Um procedimento cirúrgico foi realizado em tempo único. O presente caso, o primeiro descrito na América do Sul parece dar suporte à teoria de fechamento de múltiplos sítios. Palavras-chave: Disrafismo espinhal; Neurulação; Teoria de fechamento de múltiplos sítios; Encefalocele; Mielomeningocele. covered8. Neurulation is the step in neural tube development Introduction where we see a thickening of the ectoderm from the level of the primitive node of Hensen caudally to prochordal plate rostrally Neural tube defects (NTD) are a great group of heterogeneous at the beginning of the 3rd week of embryonic life.
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