Neural System - Abnormalities: Difference between revisions
mNo edit summary |
mNo edit summary |
||
Line 20: | Line 20: | ||
As the nervous system continues to develop fetally and postnatally, environmental issues both before and after birth are relevant to neural development. Embryonic and fetal nutrition {{folate}} (required early for neural tube closure) and | As the nervous system continues to develop fetally and postnatally, environmental issues both before and after birth are relevant to neural development. Embryonic and fetal nutrition {{folate}} (required early for neural tube closure) and {{iodine}} (required later for neural growth and differentiation). The developmental environment can also impact upon neural growth; maternal drugs such as [[Abnormal Development - Fetal Alcohol Syndrome|alcohol]] and heavy metals such as [[Abnormal_Development_-_Heavy_Metals#Lead|lead]] (mining, historically both petrol and paint). Finally, postnatally other sensory abnormalities (hearing) can also impact on achieving developmental milestones. | ||
:'''Links:''' {{neural tube defect}} | |||
<br> | |||
{{Neural Links}} | {{Neural Links}} | ||
<br> | |||
{{Abnormality Links}} | {{Abnormality Links}} | ||
==Some Recent Findings== | ==Some Recent Findings== |
Revision as of 15:29, 1 April 2019
Embryology - 8 Jun 2024 Expand to Translate |
---|
Google Translate - select your language from the list shown below (this will open a new external page) |
العربية | català | 中文 | 中國傳統的 | français | Deutsche | עִברִית | हिंदी | bahasa Indonesia | italiano | 日本語 | 한국어 | မြန်မာ | Pilipino | Polskie | português | ਪੰਜਾਬੀ ਦੇ | Română | русский | Español | Swahili | Svensk | ไทย | Türkçe | اردو | ייִדיש | Tiếng Việt These external translations are automated and may not be accurate. (More? About Translations) |
ICD-11 LA00-LA0Z Structural developmental anomalies of the nervous system |
---|
|
Introduction
There are many different congenital and environmentally derived abnormalities associated with the nervous system. There are potentially 1000's of neurological abnormalities that could be listed on this page, therefore this current page is only a very brief introduction to some of these neural abnormalities. For additional information see links at the bottom of each sub-heading. The latest ICD-11 coding now also includes a new category "LD90 Disorders of intellectual development".
As the nervous system continues to develop fetally and postnatally, environmental issues both before and after birth are relevant to neural development. Embryonic and fetal nutrition folate (required early for neural tube closure) and iodine (required later for neural growth and differentiation). The developmental environment can also impact upon neural growth; maternal drugs such as alcohol and heavy metals such as lead (mining, historically both petrol and paint). Finally, postnatally other sensory abnormalities (hearing) can also impact on achieving developmental milestones.
- Links: neural tube defect
Some Recent Findings
|
More recent papers |
---|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Abnormal Neural Development |
Older papers |
---|
|
Neural Tube Closure
Dysraphism is the term often used to describe the defective fusion of the neural folds. The position and degree of failure of fusion will result in either embryonic death or a range of different neural defects. The way (mode) in which the human neural tube fuses has been a source of contention. In humans, fusion appears to initiate at multiple sites along the neural groove[6][7], this mode of closure may differ from that found in many animal species used in developmental studies.
Human Embryonic Death:
- 5 weeks with total failure of fusion.
- 6.5 weeks with opening over the rhombencephalon.
- survive beyond 7 weeks with a defect at the frontal and parietal regions.
Mouse posterior neuropore Axd mutant[8]
Spina Bifida
(Meningomyelocele)
Double meningomyelocele[9] |
Meningomyelocele | Spina Bifida Rates (USA Data) |
There are potentially many different causes of spina bifida and neural tube defects. The basis of the abnormality is a failure of the neural tube to close caudally. At least one known cause is a low maternal diet of folic acid (folate) containing foods. (see Neural Tube Defects and Low Folic Acid or Folic Acid below)
Neural tube defects from failure to close can be screened by amniocentesis or ultrasound.
Alpha-fetoproetin normally present in the CSF, leaks and can be detected in amniotic fluid.
International Classification of Diseases ICD-11 LA02 Spina bifida |
---|
ICD-11 - LA02 Spina bifida
LA02.Y Other specified spina bifida LA02.Z Spina bifida, unspecified |
ICD-10 - Q05 Spina bifida Incl.: hydromeningocele (spinal), meningocele (spinal), meningomyelocele, myelocele, myelomeningocele, rachischisis, spina bifida (aperta)(cystica), syringomyelocele Excl.: Arnold-Chiari syndrome (Q07.0), spina bifida occulta (Q76.0)
|
Maternal nutrition | Alcohol use, Caffeine use, low folic acid, Low dietary quality, Elevated glycaemic load or index, Low methionine intake, Low serum choline level, Low serum vitamin B12 level, Low vitamin C level, Low zinc intake |
---|---|
Other maternal factors | smoking, maternal hyperthermia, Low socio-economic status, Maternal infections and illnesses (TORCH, viral infection, bacterial infection, fungal infection), maternal diabetes, Pregestational obesity, Psychosocial stress, Valproic acid use |
Environmental factors | Ambient air pollution, Disinfectant by-products in drinking water, Indoor air pollution, Nitrate-related compounds, Organic solvents, Pesticides, Polycyclic aromatic hydrocarbons |
Table data from review[10] (see original review for references) |
Cephalic Disorders
Cephalic (Greek, kephale = head) are a large group of abnormalities that relate to both skeletal (skull) and neural (brain) associated defects including: anencephaly, hydrocephalus, encephalocele, colpocephaly (occipital horn enlargement), lissencephaly (smooth brain), porencephaly (cyst or cavity in cerebral hemisphere), acephaly (absence of head), exencephaly (brain outside skull), macrocephaly (large head), micrencephaly (small brain), otocephaly (absence of lower jaw), brachycephaly (premature fusion of coronal suture), oxycephaly (premature fusion of coronal suture + other), plagiocephaly (premature unilateral fusion of coronal or lambdoid sutures), scaphocephaly (premature fusion of sagittal suture), trigonocephaly.
Microcephaly
A recent Spanish study[11] has shown a concordance between a head circumference growth function and intellectual disability in relation with the cause of microcephaly.
- "3,269 head circumference (HC) charts of patients from a tertiary neuropediatric unit were reviewed and 136 microcephalic participants selected. Using the Z-scores of registered HC measurements we defined the variables: HC Minimum, HC Drop and HC Catch-up. We classified patients according to the presence or absence of intellectual disability (IQ below 71) and according to the cause of microcephaly (idiopathic, familial, syndromic, symptomatic and mixed). Using Discriminant Analysis a C-function was defined as C=HC Minimum + HC Drop with a cut-off level of C=-4.32 Z-score. In our sample 95% of patients scoring below this level, severe microcephaly, were classified in the disabled group while the overall concordance was 66%. In the symptomatic-mixed group the concordance between HC function and outcome reached 82% in contrast to only 54% in the idiopathic-syndromic group (P-value=0.0002)."
Microlissencephaly (MRI)[12] - Zika virus associated lishencephaly (smooth brain) in combination with severe congenital microcephaly (small head).
Anencephaly
A neural tube defect, anencephaly is a failure of the neural tube to close cranially. Also called exencephaly or craniorachischisis. (More? anencephaly)
International Classification of Diseases ICD-11 LA00 Anencephaly |
---|
ICD-11 LA00.0 Anencephaly or similar anomalies - "A malformation of the nervous system caused by the failure of neuropore closure. Infants are born with intact spinal cord, cerebellum, and brainstem, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal."
LA00.Y Other specified anencephaly or similar anomalies LA00.Z Anencephaly or similar anomalies, unspecified |
Fetal Anencephaly | |
---|---|
ventral view | lateral view |
Anencephaly in a fetus (GA week 18) from a diabetic mother. Ultrasound images (coronal) show a complete absence of the cranial vault and brain and enlarged orbits.[14]
- Links: anencephaly | maternal diabetes
Holoprosencephaly
ICD-11 LA05 Cerebral structural developmental anomalies - LA05.2 Holoprosencephaly
Below are shown images of fetal holoprosencephaly and associated cyclopia.[15]
Human holoprosencephaly cyclopean dissection | Proboscis histology |
Hydrocephalus
Hydrocephalus (historic image from Hess, 1922)
This is a defect of cerebrospinal fliud (CSF) flow, excess fluid production or impaired fluid absorption and can be congenital or acquired. Estimated incidence of 1 in 1000 live births the condition leads to enlarged ventricles and head, separated skull cranial sutures and fontanelles. Obstruction of CSF flow can occur at any time (prenatally or postnatally) and leads to accumulation of within the ventricles. The time of onset will have different effects and should be compared to the equilivant neurological events that are occuring.
Ventricular obstruction usually occurs at the level of the cerebral aqueduct (narrowest site), but can occur elsewhere, and can be caused by viral infection or zoonotic disease.
- Links: Congenital Hydrocephalus
Dandy Walker malformation
Dandy Walker malformation (MRI)[16] is another form of ventricular abnormality that affects cerebellar development.
The vermis of the cerebellum can be small or absent, the fourth ventricle enlarges due to cyst formation. An ultrasound study[17] of fetuses with Dandy-Walker malformation 13 to 16 weeks (GA 15-18 weeks) identified the fourth ventricle widely open posteriorly, even in the standard transcerebellar view, and the brainstem-vermis (BV) angle was > 45°, significantly increased compared to that in normal fetuses (P < 0.0001). Note that at this age, an open fourth ventricle can also found in about 10% of normal fetuses. Named after Walter Dandy (1886 – 1946) and Arthur Earl Walker (1907 – 1995), two USA neurosurgeons.
|
- Links: Congenital Hydrocephalus
Encephalocele
This defect is generally mesodermal in origin, leading to protrusion of brain and meninges outside the crainal cavity. The severity of the disorder can vary dependent upon the degree of mesodermal abnormality.
Encephalitis
Normally a postnatal clinical syndrome of the central nervous system resulting in inflammation of the brain parenchyma and caused by a range of pathogens (viral, bacterial and protozoal infections). This infectious disease is due mainly to viral pathogens: Herpes simplex encephalitis 10%–20% of cases, Murray Valley encephalitis virus, Japanese encephalitis virus, Australian bat lyssavirus, West Nile virus, Hendra virus and Nipah virus. The pathogen is generally included in the specific encephalitis naming; Varicella encephalitis and Toxoplasma meningoencephalitis.
- Links: neural abnormalities | TORCH | PMC2700670)
Fragile X Syndrome
Fragile X Syndrome (FXS) is the most common form of inherited mental retardation and autism. The condition is caused by a loss of the functional fragile X mental retardation protein (FMRP) an RNA-binding protein that can regulate the translation of specific mRNAs. There are several suggested additional roles for this protein including synaptic development and function[18] and in adult neurogenesis.[19]
- Links: Fragile X Syndrome
Autism
Autism (autism spectrum disorder, ASD) is a behaviourally defined brain disorder in children. Features include: impoverished verbal and non-verbal communication skills, reduced social interactions (bias their attention towards objects rather than the surrounding social situation), behavioural impairments in attention engagement/disengagement, poor emotional discrimination and facial recognition, and fail to response to their own names. There exist many different and unproven claims as to the origins of autism.
Developmentally associated with neural maturation changes in cortical thickness and organization, and particularly affecting pyramidal neurons. A rat model shows structural and behavioural features of autism as a result of altering the trajectory of early postnatal cortical development.[20]
- Links: Neural Exam Movies
Rett Syndrome
(RTT) A severe neurodevelopment disorder, with intellectual disability and abnormalities of movement, mainly caused by mutations in the X-linked (Xq28) Methyl-CpG-binding protein 2 (MECP2) gene and therefore almost exclusively in females. The congenital variant of Rett syndrome is caused by heterozygous mutation in the FOXG1 gene on chromosome 14q13.
Cerebral Palsy
International Classification of Diseases ICD-11 Cerebral palsy |
---|
ICD-11 08 Diseases of the nervous system
Cerebral palsy
|
Cerebral palsy is a group of disorders in motor impairment that limits activity, and is attributed to non-progressive disturbances during brain development in fetuses or infants (3-4 / 1,000).[21]
Represented by one or more of these features:
- impaired cognition
- impaired communication
- impaired sensory perception
- behavioural abnormalities
- seizure disorders
- Links: Neural Exam Movies | Medline Plus | NINDS - Info | CDC Screening and Diagnosis | Cerebral Palsy Alliance
Newborn Neural Exam
Neural - The collapsed tables below link to a number of short videos that demonstrate simple assessments of the postnatal developing nervous system.
|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|
International Classification of Disease
ICD-11 LA00-LA0Z Structural developmental anomalies of the nervous system |
---|
|
ICD-11 Conditions with disorders of intellectual development as a relevant clinical feature | |
---|---|
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
| |
| |
LD9Y Other specified developmental anomalies
LD9Z Developmental anomalies, unspecified | |
neural abnormalities
|
International Classification of Diseases ICD-11 20 Developmental anomalies (beta draft) |
---|
ICD-11 Beta Draft - NOT FINAL, updated on a daily basis, It is not approved by WHO, NOT TO BE USED for CODING except for agreed FIELD TRIALS.
Chapter 20 Developmental anomalies, only a few examples of the draft ICD-11 Beta coding and tree structure for "structural developmental anomalies" within this section are shown in the table below. |
Mortality and Morbidity Statistics - 20 Developmental Anomalies |
Structural Developmental Anomalies
|
Multiple developmental anomalies or syndromes |
Chromosomal anomalies, excluding gene mutations |
Conditions with disorders of intellectual development as a relevant clinical feature |
LD6Y Other specified developmental anomalies
LD6Z Developmental anomalies, unspecified |
CD-11 Beta Draft - NOT FINAL, updated on a daily basis, It is not approved by WHO, NOT TO BE USED for CODING except for agreed FIELD TRIALS. |
References
- ↑ Im K, Guimaraes A, Kim Y, Cottrill E, Gagoski B, Rollins C, Ortinau C, Yang E & Grant PE. (2017). Quantitative Folding Pattern Analysis of Early Primary Sulci in Human Fetuses with Brain Abnormalities. AJNR Am J Neuroradiol , 38, 1449-1455. PMID: 28522661 DOI.
- ↑ Goldstein IS, Erickson DJ, Sleeper LA, Haynes RL & Kinney HC. (2017). The Lateral Temporal Lobe in Early Human Life. J. Neuropathol. Exp. Neurol. , 76, 424-438. PMID: 28498956 DOI.
- ↑ 3.0 3.1 Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y & Kure S. (2012). Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. Hum. Mol. Genet. , 21, 1496-503. PMID: 22171071 DOI.
- ↑ Adzick NS, Thom EA, Spong CY, Brock JW, Burrows PK, Johnson MP, Howell LJ, Farrell JA, Dabrowiak ME, Sutton LN, Gupta N, Tulipan NB, D'Alton ME & Farmer DL. (2011). A randomized trial of prenatal versus postnatal repair of myelomeningocele. N. Engl. J. Med. , 364, 993-1004. PMID: 21306277 DOI.
- ↑ Abeywardana S & Sullivan EA 2008. Neural tube defects in Australia. An epidemiological report. Cat. no. PER 45. Sydney: AIHW National Perinatal Statistics Unit | PDF.
- ↑ Van Allen MI, Kalousek DK, Chernoff GF, Juriloff D, Harris M, McGillivray BC, Yong SL, Langlois S, MacLeod PM & Chitayat D. (1993). Evidence for multi-site closure of the neural tube in humans. Am. J. Med. Genet. , 47, 723-43. PMID: 8267004 DOI.
- ↑ Nakatsu T, Uwabe C & Shiota K. (2000). Neural tube closure in humans initiates at multiple sites: evidence from human embryos and implications for the pathogenesis of neural tube defects. Anat. Embryol. , 201, 455-66. PMID: 10909899
- ↑ Brouns MR, De Castro SC, Terwindt-Rouwenhorst EA, Massa V, Hekking JW, Hirst CS, Savery D, Munts C, Partridge D, Lamers W, Köhler E, van Straaten HW, Copp AJ & Greene ND. (2011). Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse. Hum. Mol. Genet. , 20, 1536-46. PMID: 21262862 DOI.
- ↑ Sarda D, Kothari P, Laddha A, Kulkarni B. Double meningomyelocele: Embryogenesis. J Pediatr Neurosci [serial online] 2007 [cited 2013 Mar 22];2:26-7. Available from: http://www.pediatricneurosciences.com/text.asp?2007/2/1/26/32004
- ↑ Copp AJ, Adzick NS, Chitty LS, Fletcher JM, Holmbeck GN & Shaw GM. (2015). Spina bifida. Nat Rev Dis Primers , 1, 15007. PMID: 27189655 DOI.
- ↑ Coronado R, Macaya Ruíz A, Giraldo Arjonilla J & Roig-Quilis M. (2015). [Concordance between a head circumference growth function and intellectual disability in relation with the cause of microcephaly]. An Pediatr (Barc) , 83, 109-16. PMID: 25534043 DOI.
- ↑ de Fatima Vasco Aragao M, van der Linden V, Brainer-Lima AM, Coeli RR, Rocha MA, Sobral da Silva P, Durce Costa Gomes de Carvalho M, van der Linden A, Cesario de Holanda A & Valenca MM. (2016). Clinical features and neuroimaging (CT and MRI) findings in presumed Zika virus related congenital infection and microcephaly: retrospective case series study. BMJ , 353, i1901. PMID: 27075009
- ↑ Mathews TJ. Trends in spina bifida and anencephalus in the United States, 1991-2005, National Vital Statistics System.
- ↑ Alorainy IA, Barlas NB & Al-Boukai AA. (2010). Pictorial Essay: Infants of diabetic mothers. Indian J Radiol Imaging , 20, 174-81. PMID: 21042439 DOI.
- ↑ Arnold WH & Meiselbach V. (2009). 3-D reconstruction of a human fetus with combined holoprosencephaly and cyclopia. Head Face Med , 5, 14. PMID: 19563629 DOI.
- ↑ Saleem SN. (2014). Fetal MRI: An approach to practice: A review. J Adv Res , 5, 507-23. PMID: 25685519 DOI.
- ↑ Contro E, Volpe P, De Musso F, Muto B, Ghi T, De Robertis V & Pilu G. (2014). Open fourth ventricle prior to 20 weeks' gestation: a benign finding?. Ultrasound Obstet Gynecol , 43, 154-8. PMID: 24151160 DOI.
- ↑ Bassell GJ & Warren ST. (2008). Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron , 60, 201-14. PMID: 18957214 DOI.
- ↑ Luo Y, Shan G, Guo W, Smrt RD, Johnson EB, Li X, Pfeiffer RL, Szulwach KE, Duan R, Barkho BZ, Li W, Liu C, Jin P & Zhao X. (2010). Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells. PLoS Genet. , 6, e1000898. PMID: 20386739 DOI.
- ↑ Chomiak T, Karnik V, Block E & Hu B. (2010). Altering the trajectory of early postnatal cortical development can lead to structural and behavioural features of autism. BMC Neurosci , 11, 102. PMID: 20723245 DOI.
- ↑ Aisen ML, Kerkovich D, Mast J, Mulroy S, Wren TA, Kay RM & Rethlefsen SA. (2011). Cerebral palsy: clinical care and neurological rehabilitation. Lancet Neurol , 10, 844-52. PMID: 21849165 DOI.
Journals
Journal of Pediatric Neurosciences - is official publication of the Indian Society for Pediatric Neurosurgery.
Search PubMed
Search term: Neural Development Abnormalities | Anencephaly | Hydrocephalus | Encephalocele | Holoprosencephaly | Autism
Glossary Links
- Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link
Cite this page: Hill, M.A. (2024, June 8) Embryology Neural System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Neural_System_-_Abnormalities
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G