Causes of Anencephaly, Its Signs and Symptoms, Treatments and Prognosis

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Table of Contents

Introduction
Conclusion
References

Introduction

“Anencephaly is a congenital anomaly characterized by an open neural tube in the cephalic region with an exposed mass of degenerate neural tissue on the skull floor” (Cohen, C et al. 2001, p.704). It results when neural tube fails to come into contact during the first few days of embryogenesis.

Anencephaly leads to alteration of the normal behavior of an individual. It alters with the normal reasoning, hearing, and movement coordination of an individual. This paper aims at providing detailed information on possible causes of anencephaly, its signs and symptoms, treatments, and prognosis.

Anencephaly process

“In anencephaly, cranial neural tissue is exposed and not covered by a bone or skin”( The Infant with Anencephaly 1990, p.1). The inability of neural tube closing exposes internal contents of the head to the surrounding amniotic fluid which eventually degrades them.

Thus, individuals suffering from anencephaly lack cerebrum and cerebellum which constitute the largest portion of human brain. Neural tube is the main element of central nervous system of an embryo. Since anencephaly roots itself from the complications of the neural tube, it is justifiable to classify it also as a neural tube defect. Individuals suffering from this disease also lack some bones of the skull (Cohen, et al. 2001).

Signs and symptoms of anencephaly

Individuals suffering from anencephaly occasionally lack cranial vault which has great association with absence of nervous tissue on the cranial base. Additionally, their cerebral hemisphere appears soft, purple in color, and shapeless.

Their cerebral hemisphere is not only composed of vascular channels made up of thin walls in which blood is bloated, but also irregular arrangement of brain tissues (Best, 2011). In some cases, thin layers of squamous epithelium may also be present. Although the cerebellum of the victim may be normal, in most occasions it is deformed.

Extreme conditions of anencephaly such as meroacrania, may lead to a brain bulge that looks like an encephalocele. Anencephaly is also associated with loss of skin covering that demarcates merocrania from encephalocele. Although most people tend to argue that individuals suffering from anencephaly lack pituitary glands, it is evident that they do have them. In addition to neurohypophysis being distorted, it remains open in an individual suffering from anencephaly. Individuals suffering from this disease also lack the hypothalamus.

Craniofacial complications may also include emergence of hypoplastic ears and inconsistent ear folds. Additionally, individuals suffering from anencephaly may lack helices and exotrophia. The severity of this disease may also lead to an individual to not only lose ocular proptosis, but also develop tiny palpebral fissures.

In addition to individuals suffering from this disease having short necks, they also tend to have unusually big thyroid glands. According to Cohen, C et al. (2001), increase in angulation also leads to deformation of frontal bone of the face leading to alteration of a victim’s physical appearance.

The deformation of the frontal bone may also lead to diversion of superior orbital rims to the posterior part of the head. Unlike normal persons, individuals suffering from anencephaly lack the orbital plate that covers the frontal bone. In sum, persons suffering from this disease have rhomboid shaped zygomatic bones.

Anencephaly is also associated with some anomalies. For instance, it leads to spinal retroflexion and calcaneovalgus. It may also lead to the anomalous lobation of the lungs and the shortening of the intestines. Additionally, most of the infants that are suffering from anencephaly are born blind. Some of them also tend to be unconscious and do not feel pain.

Treatment of anencephaly

Currently there is no treatment for anencephaly. However, appropriate measures may be taken to avoid such incidents in life. As described above, anencephaly is caused by variation in genes formation as a result of environmental changes. Thus, observance of appropriate environmental conditions may play a significant role in curtailing the effects of this disease (The Infant with Anencephaly, 1990).

According to researchers, shortage of folic acid may lead to occurrence of this disease among pregnant women. It is also evident that consumption of this vitamin may contribute to reduction of occurrence of this disease in infants. Folic acid, as a coenzyme plays a significant role in advancing growth of infant’s cells, tissues and organs. Additionally, folic acid aids methioninesynthase in transforming homocysteine into methionine by producing a methyl group.

Thus, it is crucial for women to take meals supplemented with this vitamin before conception or during the early stages of pregnancy. It is also advisable for women who have ever given birth to a baby with anencephaly to take about 0.4 milligrams of folic acid in order to avoid such an incident from happening again. However, women ought not to take large portions of folic acid as means of preventing this disease. Excessive consumption of folic acid may also lead to masking anemia symptoms.

Diseases such as diabetes mellitus and obesity have also been associated with the emergence of this disease. In most occasions, this disease is catalyzed by poor eating habits. Thus, it is crucial for women to observe diet. Consumption of appropriate meals may play a significant role towards reducing the occurrence of this disease to the unborn. It is also vital for women to seek medical checkups occasionally in order to know their diabetic status.

Exposure to very high temperatures has also been found to contribute to emergence of this disease. Thus, it is crucial for expectant mothers to avoid exposing themselves to high heats while in early stages of pregnancy. Some chemicals are also associated with the causation of this disease. For this reason, it is crucial for pregnant women to protect themselves from harmful chemicals.

Majority of the pregnant women have also been found to use anticonvulsant medications in treating or preventing mood disorders. Some doctors also employ this type of medication on patients suffering from epilepsy and brain disorders. Unfortunately, this form of medication has also some negative effects. It has great association with the causation of anencephaly; elements such as valporic acid lead to advancement of anencephaly. Therefore, it is crucial for expectant women to avoid anticonvulsant medication.

Prognosis

“Anencephaly is lethal in all cases because of the severe brain malformation that is present” (Best 2011, p.4). Even though some women do give birth to children that suffer from it, it is evident that they do die after some few days.

Conclusion

In conclusion, anencephaly is a severe disease. It greatly hampers with the development of an infant. It is associated with loss of large portions of the brain. It is caused by multiple genes interaction with environmental chemicals. In most occasions it leads to death of infants before birth. Unfortunately, it has no cure. However, it can be prevented via observance of diet and avoidance of risky factors such as high heat and chemicals.

References

Best, R. (2011). Anencephaly. Medscape. Web.

Cohen, C et al. (2001). Syndromes of the Head and Neck. New York: Oxford University Press.

The Infant with Anencephaly. (1990). The New England Journal of Medicine. Web.

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