Anencephaly

Infobox_Disease
Name = Anencephaly
DiseasesDB = 705
ICD10 = ICD10|Q|00|0|q|00
ICD9 = ICD9|740.0
ICDO =
OMIM = 206500
MedlinePlus =
eMedicineSubj = neuro
eMedicineTopic = 639
MeshName = Anencephaly
MeshNumber = C10.500.680.196

Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancyFact|date=May 2008, resulting in the absence of a major portion of the brain, skull, and scalpcite web |url=http://www.neurologychannel.com/cephalicdisorders/index.shtml |title=Cephalic disorders - Overview, Anencephaly, Colpocephaly - neurologychannel |accessdate=May 2008] . Children with this disorder are born without a forebrain, the largest part of the brain consisting mainly of the cerebral hemispheres (which include the isocortex, which is responsible for higher level cognition, i.e., thinking). The remaining brain tissue is often exposed - not covered by bone or skin.

Presentation

The National Institute of Neurological Disorders and Stroke (NINDS) describes the presentation of this condition as follows:

A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a main brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur. cite web |url=http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm |title=Anencephaly Information Page: National Institute of Neurological Disorders and Stroke (NINDS) |accessdate = 2008-05-08]

Diagnosis

Anencephaly can often be diagnosed before birth through an ultrasound examination. The maternal serum alpha-fetoprotein (AFP screening)cite journal |author=Joó JG, Beke A, Papp C, "et al" |title=Neural tube defects in the sample of genetic counselling |journal=Prenat. Diagn. |volume=27 |issue=10 |pages=912–21 |year=2007 |pmid=17602445 |doi=10.1002/pd.1801] and detailed fetal ultrasoundcite journal |author=Cedergren M, Selbing A |title=Detection of fetal structural abnormalities by an 11-14-week ultrasound dating scan in an unselected Swedish population |journal=Acta obstetricia et gynecologica Scandinavica |volume=85 |issue=8 |pages=912–5 |year=2006 |pmid=16862467 |doi=10.1080/00016340500448438 |doi_brokendate=2008-06-28] can be useful for screening for neural tube defects such as spina bifida or anencephaly.

Prognosis

There is no cure or standard treatment for anencephaly and the prognosis for affected individuals is poor. Most anencephalic babies do not survive birth, accounting for 55% of non-aborted cases. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth from cardiorespiratory arrest.Fact|date=August 2008

In almost all cases anencephalic infants are not aggressively resuscitated since there is no chance of the infant ever achieving a conscious existence. Instead, the usual clinical practice is to offer hydration, nutrition and comfort measures and to "let nature take its course". Artificial ventilation, surgery (to fix any co-existing congenital defects), and drug therapy (such as antibiotics) are usually regarded as futile efforts. Clinicians and medical ethicists may view the provision of nutrition and hydration as medically futile. Occasionally some may even go one step further to argue that euthanasia is morally and clinically appropriate in such cases.Fact|date=August 2008

Rate of occurrence

In the United States, approximately 1,000 to 2,000 babies are born with anencephaly each year. Research has suggested that overall, female babies are more likely to be affected by the disorder.cite journal|title=The sex ratio in anencephaly|journal=Genetica|date=1970-02-05|first=J.|last=Timson|coauthors=|volume=41|issue=1|pages=457–465|doi= 10.1007/BF00958926|url=http://www.springerlink.com/content/k5p74661061t5160/|format=|accessdate=2008-05-08 ]

Causes

The cause of anencephaly is disputed. Neural tube defects do not follow direct patterns of heredity, though there is some indirect evidence of inheritancecite journal |author=Shaffer LG, Marazita ML, Bodurtha J, Newlin A, Nance WE |title=Evidence for a major gene in familial anencephaly |journal=Am. J. Med. Genet. |volume=36 |issue=1 |pages=97–101 |year=1990 |pmid=2333913 |doi=10.1002/ajmg.1320360119] , and recent animal models indicating a possible association with deficiencies of the transcription factor TEAD2.cite journal |author=Kaneko KJ, Kohn MJ, Liu C, Depamphilis ML |title=Transcription factor TEAD2 is involved in neural tube closure |journal=Genesis |volume=45 |issue=9 |pages=577–87 |year=2007 |pmid=17868131 |doi=10.1002/dvg.20330] Studies show that a woman who has had one child with a neural tube defect such as anencephaly, has about a 3% risk to have another child with a neural tube defect.Fact|date=October 2007

It is known that women taking certain medication for epilepsy and women with insulin dependent diabetes have a higher chance of having a child with a neural tube defect.Fact|date=August 2008 Genetic counseling is usually offered to women at a higher risk of having a child with a neural tube defect to discuss available testing.

Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce, although not eliminate, the incidence of neural tube defects. Therefore, it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily, especially those attempting to conceive or who may possibly conceive, as this can reduce the risk to 0.03%.Fact|date=May 2008 It is not advisable to wait until pregnancy has begun, since by the time a woman knows she is pregnant, the critical time for the formation of a neural tube defect has usually already passed. A physician may prescribe even higher dosages of folic acid (4 mg/day) for women who have had a previous pregnancy with a neural tube defect.Or|date=August 2008

Anencephaly and other physical and mental deformities have also been blamed on a high exposure to such toxins as lead, chromium, mercury, and nickel. [Goldsmith, Alexander (1996, quoted by Millen and Holtz, "Dying for Growth")]

Relation to Other Rare Disorders: Genetic Ciliopathy

Until recently, the medical literature did not indicate a connection among many genetic disorders, both genetic syndromes and genetic diseases, that are now being found to be related. As a result of new genetic research, some of these are, in fact, highly related in their root cause despite the widely-varying set of medical symptoms that are clinically visible in the disorders. Anencephaly is one such disease, part of an emerging class of diseases called cilopathies. The underlying cause may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. Known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration. [cite journal
last = Badano
first = Jose L.
authorlink =
coauthors = Norimasa Mitsuma, Phil L. Beales, Nicholas Katsanis
title = The Ciliopathies : An Emerging Class of Human Genetic Disorders
journal = Annual Review of Genomics and Human Genetics
volume = 7
issue =
pages = 125-148
publisher =
location =
date = September 2006
url = http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610
doi = 10.1146/annurev.genom.7.080505.115610
id =
accessdate = 2008-06-15]

References

External links

* [http://wwwchg.duhs.duke.edu/diseases/anencephaly.html Genetic Basis of Anencephaly]
* [http://www.anencephalie-info.org/e/report.htm Anencephalie-info.org]
* [http://www.obgyn.net/us/cotm/0006/Exencephaly-Anencephaly.htm Exencephaly – Anencephaly Sequence and its Sonographic Features]
* [http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=25 Images of Anencephaly] (Note: Contains graphic medical images)
* [http://www.thefetus.net/page.php?id=83 Anencephaly, 3D]
* [http://almashriq.hiof.no/ddc/projects/health/specimens/gross-specimens/fetuses/anencephaly/index.html Specimens - Anencephaly] (Note: Contains graphic medical images)
* [http://www.anencephalie-info.org Anencephaly info]