Silabus Mata Kuliah

Spina Bifida
Anencephaly
Hidrosefalus
Cerebral palsy
Down Syndrome
Retardasi Mental
Trauma Lahir
Gangguan Bicara
Pengantar EEG
Spina Bifida
dr. R.A. Neilan Amroisa, M.Kes., Sp.S
Tim Modul Tumbuh Kembang
FK Unimal
2009
Definisi
Suatu celah pada tulang belakang
(vertebra) yang terjadi karena bagian
dari satu atau beberapa vertebra
gagal menutup atau gagal terbentuk
secara utuh
Patophysiology
Spina bifida is caused by the
failure(kgagalan) of the neural tube to close
during the first month of embryonic
development
Normally the closure of the neural tube
occurs around 28 days after fertilization
However, if something
interferes(mnggangu) and the tube fails to
close properly(pntas), a neural tube defect
will occur. Medications such as some
anticonvulsants, diabetes, having a relative
with spina bifida.
Patophysiology
Research has shown that lack of folic acid (folate) is
a contributing factor in the pathogenesis of neural
tube defects, including spina bifida. Supplementation
of the mother's diet with folate can reduce the
incidence of neural tube defects by about 70 percent,
and can also decrease the severity of these defects
when they occur.
Studies show that a woman who has had one child
with a neural tube defects such as spina bifida, have
about a three percent risk of having another child
with a neural tube defect. This risk can be
reduced(dtrunkan) to about one percent if the woman
takes high doses (4 mg/day) of folic acid before and
during pregnancy(khamilan). For the general
population, low-dose folic acid supplements are
advised(danjurkan) (0.4 mg/day).
Gejala
Bervariasi, tergantung beratnya kerusakan
pada korda spinalis
Lokasi yg paling sering : lumbal & sacral
The lumbar nerves control the muscles in
the hip(pnggul), leg, knee(lutut) and foot,
and help to keep the body erect(tegak).
The sacral nerves control some of the
muscles(otot) in the feet, bowelusus besar)
and urinary bladder, and the ability to have
an erection
Tipe Spina Bifida
Spina Bifida Okulta
Merupakan tipe yang paling ringan
Satu atau beberapa vertebra tdk terbentuk
secara normal tetapi korda spinalis &
selaputnya (meningens) tdk menonjol.
The skin at the site of the lesion(luka) may
be normal, or it may have some hair
growing from it.
Sering tidak memberikan gejala.
Beberapa mengalami back pain
Gambar Rontgen Spina bifida Occulta pada S1
Tipe Spina Bifida
Meningocele (Meningeal cyst)
Meningens menonjol melalui vertebra
yg tdk utuh & teraba sebagai suatu
benjolan berisi cairan di bawah kulit.
The spinal cord and nerves are not
involved and their function is normal
Tipe Spina Bifida
Myelomenigocele (Spina bifida cystica)
Merupakan jenis yg paling berat
Terjadi penonjolan korda spinalis
Gejala : kelemahan ekstremitas,
hilangnya sensasi di bawah level
spinal cord yg mengalami defek,
gangguan dlm mengontrol fungsi
bowel(usus bsar) & bladder(kandung
kmih)
Tatalaksana
Tujuan :
Mengurangi kerusakan saraf akibat spina bifida
Meminimalkan kompilkasi
Pembedahan dilakukan untuk menutup
lubang yg terbentuk & kelainan yg
menyertai
Terapi fisik : utk pergerakan sendi &
memperkuat otot

Anencephaly
Anencephaly adalah Neural Tube
Defects yang jarang, tetapi fatal.
Bayi dengan anecephaly memiliki
otak yang belum sempurna dan
tengkorak yang tidak lengkap dan
kebanyakan dari mereka tidak
bertahan lebih dari beberapa jam
setelah kelahiran.
Anencephaly
Anecephaly timbul ketika "cephalic"
atau ujung kepala dari batang otak
gagal menutup, akibat tidak adanya
sebagian besar dari otak, tengkorak
dan kulit kepala.
This defect results when the neural
tube fails to close during the third to
fourth weeks of development.
A variety of environmental factors appear
to be influential(brpngaruh) in the closure
of the neural tube. Most notably(khsusnya,
folic acid and other naturally occurring
folates(asam folat) have a strong
preventive effect. Folate antimetabolites,
maternal diabetes, maternal obesity,
mycotoxins in contaminated corn meal,
arsenic, and hyperthermia in early
development have been identified as
stressors that increase the risk of NTDs,
including anencephaly
The maternal serum alpha-
fetoprotein (AFP screening) and
detailed fetal(brhub.dg janin)
ultrasound can be useful for screening
for neural tube defects such as spina
bifida or anencephaly.
Recent studies have shown that the
addition of folic acid to the diet of
women of child-bearing(mlahrkan) age
may significantly reduce(trun), although
not eliminate(mlnyapkn), the incidence of
neural tube defects.