DANDY WALKER SYNDROME

http://www.dandy-walker.org/index_indo.html
Apa yang disebut Dandy-Walker Syndrome?
Dandy-Walker Syndrome adalah malformasi bawaan sejak lahir
(kongenital) dari cerebellum (suatu bagian belakang otak yang
mengendalikan gerak) dan daerah sekitarnya yang dipenuhi oleh cairan.
Ciri utama dari sindrom ini adalah pembengkakan dari ventrikel keempat
(channel kecil yang mengalirkan cairan dengan bebas antara bagian atas
dan bawah dari otak dan spinal cord), tidak adanya sebagian atau seluruh
cerebellar vermis (bagian antara kedua hemisphere cerebellar) dan pembentukan kista (cyst) di
dekat bagian bawah tengkorak. Pembesaran ruang cairan disekitar otak dan meningkatnya
tekanan dalam otak juga mungkin terjadi. Sindrom ini bisa muncul secara dramatis atau
berkembang tanpa terdeteksi. Gejalanya, yang sering terjadi pada permulaan masa bayi,
termasuk perkembangan motorik yang terlambat dan pembesaran kepala secara bertahap. Pada
anak yang lebih tua, gejala naiknya tekanan dalam otak/tengkoraknya seperti rewel, muntah dan
kejang dan tanda disfungsi cerebellar seperti ketidakstabilan (saat bergerak/berjalan),
kurangnya koordinasi otot atau mata bergerak-gerak dengan tidak normal. Gejaa lain termasuk
peningkatan ukuran lingkaran kepala, bengkak di bagian belakang kepala, problem dengan
syaraf yang engendalikan mata, wajah dan leher, dan pernafasan yang tidak normal.
Sindrom Dandy-Walker sering berhubungan dengan gangguan bagian lain dari sistem syaraf
sentral (central nervous system) termasuk tidk adanya corpus callosum (bagian penghubung
antara kedua bagian otak), malformasi jantung, wajah, tangan/kaki, jari-jari dan jari-jari kaki.
Apakah ada pengobatannya?
Pengobatan untuk individu dengan sindrom Dandy-Walker umumnya terdiri dari mengobati
problem sampingannya, apabila diperlukan. Tube khusu untuk mendrainase/mengeluarkan
cairan mungkin dipasang pada kepala. Ini akan mengurangi tekanan/desakan cairan dan
membantu mengurangi pembengkakan. Orangtua anak yang mengidap Dandy Walker Syndrome
mungkin akan merasakan manfaat dari konseling genetic apabila berencana untuk punya anak
lagi.
Bagaimana prognosisnya?
Pengaruh dari Dandy-Walker Syndrome pada perkembangan intelektual beragam, beberapa anak
tetap memiliki kemampuan kognitif normal dan lainnya tidak pernah mencapai perkembangan
intelektual yang normal meskipun hidrocefalus terdeteksi secara dini dan tertangani secara
benar. Kelangsungan hidup tergantung pada tingkat keakutan dan malformasi yang terjadi.
Terjadinya kelainan mutli orgn bawaan mungkin memperpendek jangka waktu kehidupan.
Siapakah the Dandy-Walker Alliance dan apa tujuannya?
Kami adalah organisasi yang melibatkan semua pihak, yang terdiri dari para individu yang
secara langsung dan tidak langsung terdampak oleh Dandy-Walker Syndrome, berbagi
ketertarikan bersama dalam kegiatan pendidikan, informasi dan mendukung penelitian nonpartisan untuk meningkatkan kesadaran publik tentang cacat bawaan sejak lahir Dandy-Walker.
Kami jug mendukung semua usaha untuk mencari penyebabnya, untuk mencari obat
penyembuh dan untuk meringankan dampak dari Dandy-Walker Syndrome. Kami peraya bahwa
dengan mempublikasikan hasil penemuan pada para Keluarga terdampak dengan cara yang
teroganisir dan mudah diakses dan dengan membagikan hasil langsung maupu tidak langsung
dari penelitian translational kita bisa lebih cepat membawa hasilnya kepada pasien dengan cara
yang dipercepat.

http://en.wikipedia.org/wiki/Dandy%E2%80%93Walker_syndrome
DandyWalker syndrome
From Wikipedia, the free encyclopedia
This article's lead section may not adequately summarize its contents. Please
consider expanding the lead to provide an accessible overview of the article's key
points. (July 2009)
DandyWalker syndrome
Classification and external resources
ICD-10

Q03.1

ICD-9

742.3

OMIM

220200

DiseasesDB

3449

eMedicine

radio/206

MeSH

D003616

DandyWalker syndrome (DWS), or DandyWalker complex, is a congenital brain malformation

involving the cerebellum and the fluid filled spaces around it. A key feature of this syndrome is
the partial or even complete absence of the part of the brain located between the two cerebellar
hemispheres (cerebellar vermis).[1] The DandyWalker complex is a genetically sporadic disorder
that occurs one in every 25,000 live births, mostly in females. [2]
Contents
[hide]
1 Presentation
2 Classification
o

2.1 Malformation

2.2 Mega cisterna magna

2.3 Variant

2.4 Relation to other rare disorders: genetic ciliopathy

2.5 Relation to PHACES syndrome

3 Treatment
4 Prognosis
5 Eponym
6 References
7 External links
[edit]Presentation
The key features of this syndrome are an enlargement of the fourth ventricle; a partial or
complete absence of the cerebellar vermis, the posterior midline area of cerebellar cortex
responsible for coordination of the axial musculature; and cyst formation near the internal base
of the skull. An increase in the size of the fluid spaces surrounding the brain as well as an
increase in pressure may also be present. The syndrome can appear dramatically or develop
unnoticed.
Symptoms, which often occur in early infancy, include slower motor development and
progressive enlargement of the skull. In older children, symptoms of increased intracranial
pressuresuch as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as
unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. Other
symptoms include increased head circumference, bulging at the back of the skull, problems with
the nerves that control the eyes, face and neck, and abnormal breathing patterns.
DandyWalker syndrome is frequently associated with disorders of other areas of the central
nervous system including absence of the corpus callosum, the bundle of axons connecting the
two cerebral hemispheres, and malformations of the heart, face, limbs, fingers and toes.[1]
Prenatal diagnosis is possible with ultrasound. Because the syndrome is associated with an
increased risk for fetal karyotype abnormalities, amniocentesis can be offered after prenatal
diagnosis.[3] There is a relative contraindication of taking Warfarin during pregnancy, as it is
associated with an increased risk of DandyWalker syndrome if taken during the first trimester. [4]
[edit]Classification
The term DandyWalker represents not a single entity, but several abnormalities of brain
development which coexist. There are, at present, three identified types of DandyWalker
complexes. These represent closely associated forms of the disorder: DWS malformation, DWS
mega cisterna magna and DWS variant.
[edit]Malformation
The DWS malformation is the most severe presentation of the syndrome. The posterior fossa is
enlarged and the tentorium is in high position. There is partial or complete agenesis of
thecerebellar vermis. There is also cystic dilation of the fourth ventricle, which fills the posterior
fossa. This often involves hydrocephaly and complications due to associated genetic conditions,
such as Spina Bifida.

[edit]Mega cisterna magna

The second type is a mega cisterna magna. The posterior fossa is enlarged but it is secondary to
an enlarged cisterna. This form is represented by a large accumulation of CSF in the cisterna
magna in the posterior fossa. The cerebellar vermis and the fourth ventricle are normal.
[edit]Variant
This section does not cite any references or sources. Please help improve this
section by adding citations to reliable sources. Unsourced material may
be challenged and removed. (July 2009)
The third type is the variant, which is less severe than the malformation. This form (or forms)
represents the most wide-ranging set of symptoms and outcomes of DWS. Many patients who do
not fit into the two other categories of DWS are often labeled as variant. The fourth ventricle is
only mildly enlarged and there is mild enlargement of the posterior fossa. Thecerebellar
vermis is hypoplastic and has a variably sized cyst space. This is caused by open communication
of the posteroinferior fourth ventricle and the cisterna magna through the enlarged vallecula.
Patients exhibit hydrocephalus in 25% of cases and supratentorial CNS variances are uncommon,
only present in 20% of cases. There is no torcular-lambdoidinversion, as usually seen in patients
with the malformation. The third and lateral ventricles as well as the brain stem are normal.
[edit]Relation to other rare disorders: genetic ciliopathy
Until recently, the medical literature did not indicate a connection among many genetic
disorders, both genetic syndromes and genetic diseases, that are now being found to be related.
As a result of new genetic research, some of these are, in fact, highly related in their root
cause despite the widely-varying set of medical symptoms that are clinically visible in
thedisorders. DandyWalker syndrome is one such disease, part of an emerging class of diseases
called ciliopathies. The underlying cause may be a dysfunctional molecular mechanism in the
primary cilia structures of the cell, organelles which are present in many cellular types
throughout the human body. The cilia defects adversely affect "numerous critical developmental
signaling pathways" essential to cellular development and thus offer a plausible hypothesis for
the often multi-symptom nature of a large set of syndromes and diseases. Known ciliopathies
include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver
disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms
of retinal degeneration.[5]
Genetic associations of the condition are being investigated. [6]
[edit]Relation to PHACES syndrome
Recent research has found that DandyWalker syndrome often occurs in patients with PHACES
syndrome.[7]
[edit]Treatment
Treatment for individuals with DandyWalker Syndrome generally consists of treating the
associated problems, if needed.
A special tube (shunt) to reduce intracranial pressure may be placed inside the skull to control
swelling.[8]

Treatment may also consist of various therapies such as occupational therapy, physical therapy,
speech therapy or specialized education. Services of a vision teacher may be helpful if the eyes
are affected.
Parents of children with DandyWalker syndrome may benefit from genetic counseling if they
intend to have more children.
[edit]Prognosis
This section does not cite any references or sources. Please help improve this
section by adding citations to reliable sources. Unsourced material may
be challenged and removed. (July 2009)
The spectrum of outcomes for DandyWalker syndrome is diverse. Mortality statistics are often
compiled by neurologists who deal with worst-case outcomes, which thus reflect a high mortality
rate, or grim prognosis both pre- and postnatal in DWS infants.
Children with less severe symptoms may have normal intellectual development; children with
severe malformation may have mental retardation. Longevity depends on the severity of the
syndrome and associated malformations. The presence of multiple congenital defects may
shorten life span.
[edit]Eponym
It is named for Walter Dandy and Arthur Earl Walker.[9][10]
[edit]References
1.

a b

National Institute of Neurological Disorders and Stroke, "NINDS DandyWalker

Syndrome Information
Page,"http://www.ninds.nih.gov/disorders/dandywalker/dandywalker.htm. Last updated
September 16, 2008. Last accessed July 6, 2009.
2.

^ "Report: Man with Almost No Brain Has Led Normal Life," July 25, 2007. Accessed
athttp://www.foxnews.com/story/0,2933,290610,00.html on July 6, 2009

3.

^ Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JL. Prenatal diagnosis of congenital

anomalies. Appleton & Lange, Norwalk, 1988, pp. 30-33.

4.

^ Kaplan LC (Dec 1985). "Congenital Dandy Walker malformation associated with

first trimester warfarin: A case report and literature review". Teratology 32 (3): 333
337.doi:10.1002/tera.1420320302. PMID 4082063.

5.

^ Badano, Jose L.; Norimasa Mitsuma, Phil L. Beales, Nicholas Katsanis (September
2006). "The Ciliopathies : An Emerging Class of Human Genetic Disorders". Annual Review
of Genomics and Human Genetics 7: 125
148.doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803. Retrieved 2008-0615.

6.

^ Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ (October

2004). "Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy
Walker malformation". Nat. Genet. 36 (10): 10535. doi:10.1038/ng1420. PMID 15338008.

7.

^ Metry DW, Dowd CF, Barkovich AJ, Frieden IJ (July 2001). "The many faces of
PHACE syndrome". J. Pediatr. 139 (1): 117
23. doi:10.1067/mpd.2001.114880.PMID 11445804.

8.

^ Yceer N, Mertol T, Arda N (2007). "Surgical treatment of 13 pediatric patients

with DandyWalker syndrome". Pediatr Neurosurg 43 (5): 358
63.doi:10.1159/000106383. PMID 17785999.

9.

^ synd/433 at Who Named It?

10.

^ http://www.whonamedit.com/doctor.cfm/418.html