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.STim Modul Tumbuh Kembang

FK Unimal2009

DefinisiSuatu 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 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 and the tube fails to close properly, 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 to about one percent if the woman takes high doses (4 mg/day) of folic acid before and during pregnancy. For the general population, low-dose folic acid supplements are advised (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, leg, knee and foot, and help to keep the body erect.

The sacral nerves control some of the muscles in the feet, bowel and urinary bladder, and the ability to have an erection

Tipe Spina BifidaSpina Bifida Okulta

Merupakan tipe yang paling ringanSatu atau beberapa vertebra tdk terbentuk secara normal tetapi korda spinalis & selaputnya (meningens) tdk menonjol. The skin at the site of the lesion 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 BifidaMeningocele (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 BifidaMyelomenigocele (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 & bladder

TatalaksanaTujuan :

Mengurangi kerusakan saraf akibat spina bifidaMeminimalkan 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 in the closure of the neural tube. Most notably, folic acid and other naturally occurring folates 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 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 age may significantly reduce, although not eliminate, the incidence of neural tube defects.