Anencephalic Baby : A Case Report

Dr Irman Permana, Sp.A1, Dr Ineu Nopita, Sp.A1, Dr Tatan Tandubela,

Sp.A1, Luthfi Ahmad I2, Hafiz Baihaqi2, Dandan Adi N2, Dyah Ayu L2,
Metta Sari S2, Mirellagreysalli K2, Ghea Gestivani S2, Galih Cahya P2,
Innes Andhika2
1
Department of Pediatric Waled Hospital Cirebon 2Faculty Medicine
Swadaya Gunung Jati College Cirebon

Introduction: Anencephaly is a fatal congenital developmental abnormality by absence

of cerebral hemisphere and cranial vault above the base of the skull and orbits. It is due
to the failure of fusion of the cranial neural tube at 24-26 days post fertilization. Overall
incidence of anencephally is 3,8 to 6 per 1,000 births with considerable variation
throughout the world. Prevalence of Neural Tube Defects at South East Region : There
were 14 studies representing four of the 11 countries in South East Asia. The lowest
prevalence estimate for the region was 1,9 per 10,000 births in Thailand and the highest
was 662 per 10,000 births in India.(1,2)
Case Report: Female infant who was born at 34 weeks gestation. Born by 25 years old
primipara mother. The mother had prenatal care from the first trimester of pregnancy
and received regular prenatal care. During pregnancy the mother not have a history of
seve illness and drinking herbs. There was no history of family with the condition like
this. There was no drug intake history or exponsure radiation during the first trimester of
pregnancy. The patients birth weight was 1620 grams, length 39 cm, and head
circumference 21 cm.
Discussion: Anencephaly is a fatal congenital developmental abnormality by absence of
cerebral hemisphere and cranial vault above the base of the skull and orbits. It is due to
the failure of fusion of the cranial neural tube at 24-26 days post fertilization. The
association between anencephaly and birth order is described as U-shaped, however
Elwood et.al (1978) reported that the frequently noted U-type relationship of
anencephalus risk with maternal parity was produced by a combination of two influences,
i.e a decrease in risk with previous live born health pregnancies and an increased in risk
with previous unhealthy pregnancies as still births or infant deaths.
Conclusion: We conclude from our study that most common in female fetus, commonly
noticed in the primigravida. Anencephaly is efficiently diagnosed by ultrasound
examination (USG) during early days of pregnancy, but pathological examination of the
abortus is needed, as in most cases anencephaly is also associated with systemic
anomalies. This helps in counseling the parents and in planning next pregnancy
keywords: anencephalic baby, anencephal, kongenital anomali, fatal anomalies

Introduction

Anencephaly is a fatal congenital developmental abnormality by absence of

cerebral hemisphere and cranial vault above the base of the skull and orbits. It is
due to the failure of fusion of the cranial neural tube at 24-26 days post
fertilization. Overall incidence of anencephally is 3,8 to 6 per 1,000 births with

1
considerable variation throughout the world. Prevalence of Neural Tube Defects
at South East Region : There were 14 studies representing four of the 11 countries
in South East Asia. The lowest prevalence estimate for the region was 1,9 per
10,000 births in Thailand and the highest was 662 per 10,000 births in India.(1,2)
The cause of anencephaly is still disputed entity but the defect is failure of
closure of rostral neuropone. Neural tube are considered to be polygenic,
multifactorial condition wherein many genes, nutrients, environmental factors
including infections, drugs, and maternal disease like diabetes individually or in
combination play role. The maternal risk factor s that are associated with
anencephaly are illiteracy, increasing gravidity, history of previous miscarriages,
positive history of birth defects, high or low age of mothers during pregnancy,
increased stress, low socio-economic status. (3,4)
Observational and Interventional studies have all consistent with a 50-70%
protective effect adequate women consumptiono of folates on neural tube defects.
The intake of 0.5 mg of folic acid during the course of pregnancy reduces the risk
of anencephaly but does it have simiiar efffects other anomalies is poorly
understood. (4,5)
In a normal human embryo, the neural plate is formed approximately 18th
days after fertilization. During the 4th week of development, the neural plate
invaginates to form the neural groove, The neural tube is formed due to closure of
the neural groove by fusion of neural folds. Anencephaly can be diagnosed by
ultrasound examination (USG). The diagnosis can be reliable made with
ultrasound as early as 11 weeks of pregnancy. Based on research from
Dhapate,etc there were 35 cases of craniospinal anomalities detected with USG
from 8640 cases scanned (incidence 0,40%). Out of these 35 cases 17 cases of
anencephaly were detected.(1,5,6,7)
Anencephaly was common in primigravid and is more common in female
fetus. Most mother from rural area and they were agricultural labours. They had
regular antenatal checkups outside and took iron and folic acid, however they did
not get ultrasound check. Fetus with neural tube defects lacks functioning

2
cerebrum that rules out the possibiliity of ever gaining consciousness. They will
be blind, deaf and unable to feel pain.(7,8)
There are multiple pathways that lead to anencephaly, each of which is
likely detrimentally affected by glyphosate. Glyphosates known metal chelation
properties and adverse effect on gut microbes leads to deficiencies in several
vitamins, minerals and the amino acid methionine, all of which linked to
anencephaly. Glyphosate has been shown to induce oxidative stress, and leads to
zinc sequestering by metalloproteinases and subsequent zink deficiency. The
presence of polyhidroamnion in only 21 of 32 anencephalic deliveries prompted
injection of radiopaque cotrast material into the amniotic cavity of 3 patients with
polyhidroamnios and anencephalic fetuses. In each case contrast material was
seen by x-ray of the fetal gastrointestinal tract after delivery, even though one
fetus had partial stenosis and atresia of the esophagus. A fourth case is
described, that of an infant with atresia and complete stenosis. (9,10)

Case Report

We present the case of Asian female infant who was born at 34 weeks
gestation in RSUD Waled Cirebon. Born by 25 years old primipara mother. The
mothe had prenatal care from the first trimester of pregnancy. The mother
received regular prenatal care including prenatal vitamis and irono during
pregnancy and check ultrasonography examination in doctoris found that the fetus
has microsephali. Mother was hepatitis B negative, HIV negative. During
pregnancy the mother not have a history of seve illness and drinking herbs. There
was no history of family with the condition like this. There was no drug intake
history or exponsure radiation during the first trimester of pregnancy. The patient
was born by spontaneous partus in RSUD Waled cirebon with antepartum
hemorragic. Apgar score 5/6 respectively. She was given vitamins K and
oxytetrasiklin eye ointment in the delivery room.
The patients birth weight was 1620 grams, length 39 cm, and head
circumference 21 cm. upon initial physical examination the patient obtained the
heart rate 139 bmp, respiration rate 58 bpm and temperature 36,9, skin color of

3
sianosis, the skin color the body redness, and anencephali. The effort of breathing
crying is strong, active muscle tone movement, reflex reaction against.
The patient was placed in infant warmer. Attached oxygen cannul 2 liter per
minute to assist breathing. Patients can survive for 24 hours only. Toward
beginning of his hospital stay, an extensive pedigree of the family was done and
his family history was unremarkable.

4
Discussion

Anencephaly follows failure of closure of the anterior neural tube

approximately at 18 days of fetal life. A less possible hypothesis proposes that
anencephaly is established often a reopening of the prosenencephalic portion of
the neural tube, subsequently the covering mesoderm and ectoderm incur injury.
The highest incidence is in Great Brittan and Irland and the lowest is in Asia,
Africa and south America. Anencephaly occurs six times more frequent in white
than in blacks, females are more often affected than males.
Anencephaly is a fatal congenital developmental abnormality by absence of
cerebral hemisphere and cranial vault above the base of the skull and orbits. It is
due to the failure of fusion of the cranial neural tube at 24-26 days post
fertilization. Overall incidence of anencephally is 3,8 to 6 per 1,000 births with
considerable variation throughout the world.
Fetus with neural tube defects lacks functioning cerebrum that rules out the
possibility of ever gaining consciousness. They will be blind, deaf and unable to
feel pain. Some individuals with anencephaly may be born with a rudimentary
brainstem, which controls autonomic and regulatory function. Hence, reflex
actions such as respiration and responses to sound or touch may be present.
In this case, we present fetus born with anencephaly. After birth, she were
placed in infant warmer to prevent from hypothermia, from the physical
examination infant was unresponsive from pain and the downes score is 6 then
she started attached oxygen cannul 2 liter per minute to assist breathing.
The association between anencephaly and birth order is described as U-
shaped, however Elwood et.al (1978) reported that the frequently noted U-type
relationship of anencephalus risk with maternal parity was produced by a
combination of two influences, i.e a decrease in risk with previous live born
health pregnancies and an increased in risk with previous unhealthy pregnancies
as still births or infant deaths. In our cases, there were no previous unhealthy
pregnancies. According to other studies anencephaly was common in primigravid.
The mothers were from rural area and they were agricultural labours. They had
regular antenatal checkups outside and took iron and folic acid, however they did

5
not get ultrasound study done. The cases were diagnosed at the first time of
ultrasound examination with microcephaly.

Conclusion
We conclude from our study that most common in female fetus, commonly
noticed in the primigravida. Central nervous system anomalies are the commonly
associated anomalies. Anencephaly is efficiently diagnosed by ultrasound
examination (USG) during early days of pregnancy, but pathological examination
of the abortus is needed, as in most cases anencephaly is also associated with
systemic anomalies. This helps in counseling the parents and in planning next
pregnancy

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