Download - (19) Congenital Anomalies of Cns
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CONGENITAL ANOMALIES OF CNSDr.Anna MG.Sinardja,SpS (K)Ketua Pokdi Saraf Anak PERDOSSIBgn.Neurologi FK.UNUD/RS.Sanglah
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ontogenesis Embriogenesis- induksi (0 – 54 – 60
hari gestasi) Cellular Proliferation and Migration (2
Months Gestation to Postnatal Period) Cellular architectonics-Synaptic
development-Myelin formation (25 minggu gestasi sampai 4 tahun usia)
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Dorsal midline CNS-Axial skeletal defects: dysraphism
Anencephaly Spina bifida dan cranium bifidumMeningocele CHIARI MALFORMATION type I,II,III,IV
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NEURAL TUBE DEFECTS(Dysraphism)
Terbanyak Kegagalan penutupan neural tube 3-4 minggu kehamilan E/ ? Curiga : radiasi, obat, malnutrisi, kimia,
genetik ( gangguan metab. folat )
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Termasuk : spina bifida okulta, meningokel myelomeningokel, encefalokel, anensefali, syringomyeli, lipoma pada konus medularis.
SS manusia berasal dari ektoderm primitif yg juga menjadi epidermis
Ektoderm, endoderm, mesoderm membentuk 3 lapisan germinal primer pd minggu ke 3 kehamilan.
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Spina bifida okulta Defek midline vertebral bodies tanpa
protrusi medula spinalis atau meningen Asimptomatik, tak ada gangguan
neurologis Pd garis tengah punggung ada : rambut,
lipoma, perubahan warna kulit setempat RO punggung : defek arkus vertebralis
posterior dan lamina, di : L5, S1
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Meningokel Herniasi meningen melalui defek arkus
vertebra posterior MS normal, atau terjepit, syringomieli Ada masa fluktuasi di grs tengah
vertebra yg transiluminasi Pemeriksaan : neurologi, roentgen, USG,
MRI spinal sebelum ke BS
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Bila ada LCS keluar : cito BS Komplikasi : meningitis CT Scan kepala : penyertaan
hidrosefalus Meningokel anterior : konstipasi dan
bladder disfunction. Wanita : anomali genitalia : fistula rekto
vaginal, septum vagina.
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Myelomeningokel Gangguan paling berat Insidens : 1 / 4.000 kelahiran E/ : tak diketahui, curiga gangguan
genetik Anak berikut mungkin akan ada defek ini
3-4 % Gangguan nutrisi dan lingkungan : faktor
predisposisi
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Dpt dicegah dgn pemberian asam folat 0,4 – 4 mg perhari
Klinis : gangguan pada banyak organ lain spt. Skeleton, kulit dan traktus urinarius
Lokasi : sepanjang vertebra, terbanyak lumbosakral ( 75% )
Defisit tergantung lokasi lesi Pd sakral bawah : inkontinensia urin et
alvi
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Dan anestesia perianal, tetapi tanpa gangguan fungsi motorik
Sering keluar LCS Bayi : paralisis flaksid, refleks tendon
menghilang, hilang rasa raba dan nyeri Postural abn : clubfeet, subluksasi
panggul Dapat naik sampai ke daerah toraks
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Hidrosefalus menyertai defek Chiari type II terjadi 80 % kasus ini
Bila gangguan pada sakrum jarang hidrosefalus
Terapi : pendekatan multidisiplin BS, dokter saraf anak dan fisio terapist
serta keluarga. Pemeriksaan berkala gangguan kencing
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Prognosis : Dgn terapi agresif, kematian sekitar 10 –
15 % Kematian sebelum 4 thn IQ baik pd 70 % kasus Penyerta : kejang dan gangguan belajar Dpt terjadi meningitis dan ventrikulitis
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Ensefalokel Dua macam gangguan dysraphism pd
skull menyebabkan protrusi jaringan melalui defek tulang midline disebut : cranium bifidum
Meningokel kranium :kantung meningen diisi LCS
Ensefalokel kranium : korteks serbri, serebelum sebgn batang otak
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Defek terbanyak : oksipital, bawah inion, frontal, nasifrontal
E/ : sama Dpt timbul : hidrosefalus, Chiari malform, Dandy-Walker syndrom Pm/ : CT Scan kepala, Ro kepala dan
servikal, USG menentukan besar kantung
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Komplikasi : Meningokel kranium : prognosis baik Ensefalokel kranium : ggn. Visus, mikro
sefali, RM, kejang : progn. buruk
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Anensefali Defek besar kalvaria, meningen dan
skalp dgn otak rudimenter Kegagalan penutupan neuropore rostral Otak primitif mengandung jaringan peng
hubung, pembuluh darah dan neuroglia Tak terdpt hemisfer serebri dan
serebelum Hanya sisa batang otak Glandula hipofise hipoplastik
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Gejala ikutan : kuping berlipat, palatum belah, defek jantung kongenital
Meninggal dlm beberapa hari Ins. 1 per 1000 kelahiran Monitor : amniosentesis, kadar AFP, USG
kehamilan 14 – 16 minggu
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Gangguan migrasi neuronal
Menyebabkan gangguan minor saraf RM, lissensefali, schizensefali Gangguan sistem serat glia radier yg
mengontrol migrasi neuronal ke 6 lapisan korteks serebri
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lissensefali Agrya : tak ada konvolusi serebral dan
gangguan fissura sylvii
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schizensefali Celah unilateral atau bilateral dlm
hemisfer serebral
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porensefali Ada kiste atau kantung dlm otak Ada 2 jenis yakni : 1.true porencephalic cyst : berhubungan
dgn ruang subarahnoid, ventrikel 2.pseudoporencephalic cyst : tdk
berhubungan
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Agenesis korpus kallosum
kegagalan program cell death dalam sel glia lamina terminalis
type I, agenesis parsial atau komplit ditemani satu satunya defek struktur secara filogenetik
bentuk II, agenesis corpus callosum ditemani sejumlah abnormalitas prolifersi seluler termasuk micropolygyria dan heteropia gray matter
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hidrosefalus
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kraniosinostosis
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thank you