http://indianpediatrics.net/oct2006/oct-920-922.

htm
Chiari Malformation Type II with Vanishing Cerebellum

An eight-month-old baby, the second of two siblings born to non-consanguinous parents, presented
with delayed milestones and a history of a lumbosacral swelling which was operated in the early
neonatal period.
MR imaging revealed a small posterior fossa occupied by the occipital lobes and a profoundly small
cerebellum (Fig 1). The tentorial incisura was heart-shaped. Sagittal sections demonstrated
hypoplastic cord-like cerebellar tonsils herniating through the foramen magnum into the upper cervical
canal and an elongated poorly-formed fourth ventricle (Fig. 2). Other findings were a small-sized pons
with loss of normal pontine prominence, caudal elongation of the medulla and beaked tectal plate.
The torcular hetero-phili was low-placed and supratentorial hydrocephalus was present. The massa
inter-media was absent and the falx was hypoplastic with consequent interdigitations of gyri.




Fig. 1. MRI Axial SE Small posterior fossa
occupied by the occipital lobes (white arrow)
and a profoundly small cerebellum (black
arrow).

Fig. 2. SAG T1 WI : Hypoplastic cord-like
cerebellar tonsil herniating through the
foramen magnum into the upper cervical canal
(Black arrow), elongated poorly formed tube-
like fourth ventricle (white arrow), small sized
pons with loss of the normal pontine
prominence, beaked tectal plate, absent massa
intermedia
MR images of the lumbosacral spine revealed dysraphism and lumbar meningomyelocele with
tethering of the cord.
In 1891, Hans Chiari first described an anomaly encompassing elongated peg-like cerebellar tonsils
displaced into the upper cervical canal through the foramen magnum to be later known as the Chiari
type I malformation. Chiari type II anomaly includes herniation of the medulla, fourth ventricle and
cerebellar vermis through the foramen magnum. Chiari III combines features of Chiari II with a high
occipital or low cervical encephalocele. A fourth variety includes severe hypoplasia/aplasia in a
diminutive posterior fossa.
The Chiari II malformation is always associated with a meningomyelocele. This condition includes
downward displacement of medulla, fourth ventricle and cerebellum into the cervical spinal canal, with
concomitant elongated pons and fourth ventricle, probably due to a relatively small posterior fossa.
These intracranial abnormalities are a result of incomplete closure of the neural tube, which prevents
transient closure of the central canal that is essential for distension of the primitive ventricular system.
The subsequent lack of the inductive effect of pressure and volume on the surrounding mesenchyme
results in an abnormally shallow posterior fossa(1). Exceptionally, this transforaminal herniation
results in degeneration of cerebellar tissue, presenting as the vanishing cerebellum in Chiari II
malformation(2). The absence of a normal-sized posterior fossa precludes the diagnosis of cerebellar
agenesis(3).
N. Chidambaranathan,
Sumithra Reddy,
Department of Radiology and
Imaging Sciences,
Apollo Hospitals,
No. 21, Greams Lane, Chennai 600 006, India.
E-mail: drchidam@vsnl.net
References
1. Bolthauser E, Schneider J, Kollias S, Waibel P, Weisser M. Vanishing cerebellum in
myelomeningocele. Eur J Pediatr Neurol 2002; 6: 109-113.
2. Mclone DG, Knepper DA. The cause of Chiari II malformation. A unified theory. Pediatric
Neuroscience 1989; 15: 1-12
3. Sener RN. Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. Comput Med
Imaging Graphics 1995; 6: 491-494.

http://cupangkolam.wordpress.com/2010/05/27/sedikit-berbagi-tentang-penyakit-malformasi-
chiari-dan-syringomyelia/
MALFORMASI CHIARI
Atau sering disebut Arnold_Chiari Malformation, adalah tampilan genetic yang jarang
terjadi dimana ada bagian otak yang tumbuh tidak normal.Malformasi mungkin terjadi
pada bagian paling bawah otak atau bagian brain stem. Pertama ditemukan oleh
seorang ahli pathologi Jerman bernama Arnold Chiari pada tahun 1891.
Pada malformasi otak terdesak karena posterior fossa kecil sehingga mengakibatkan
munculnya tonsil. Malformasi sering terjadi karena bawaan sejak lahir dimana problem
ini mumncul saat dewasa. Oleh karena itu malformasi sering diketahui saat sudah
dewasa. Beberapa akibat malformasi dapat menyebabkan hydrocephalus, terbukanya
spina bifida, atau bahkan syringomyela. Para peneliti belum mengetahui penyebab
penyakit ini secara pasti. Satu hipotesa menyebutkan bahwa bagian bawah otak (the
skull) terlalu kecil, sehingga cerebellum menurun. Teori lain menyebutkan overgrowth
pada cerebral region. Pasien sering mengeluhkan pusing, ketika bersin pusing, rasa
seperti terbakar, ketidakseimbangan, nyeri di leher atau sakit pada bagian tangan,
memiliki problem visual atau spot-spot hitam pada penglihatan. Penyakit ini dapat
dideteksi dengan MRI atau Contras MRI.

Gambar diambil dari link berikut
SYRINGOMYELIA
Syringomyelia adalah penyakit degeneratif kronis progressif atau gangguan
perkembangan sumsum tulang belakang yang ditandai dengan kelemahan tanpa rasa
nyeri serta atrofi otot-otot lengan dan tangan yang disertai kedutan, refleks-refleks
tendon menghilangdan terjadi mati rasa segmental tipe dissosiatif. Rasa nyeri seperti
terbakar dan ngilu pada salah satu sisi tubuh, atau juga dirasakan pada wajah. Jika
batuk atau bersin atau membungkuk akan merasakan ngilu di dasar kepala. Penyakit ini
biasa muncul pada rentang usia 20-40 tahun, lelaki dan wanita punya resiko yang sama
terkena penyakit ini.
Pada syringomyela sering terbentuk syrinx, yakni rongga berisi cairan yang terbentuk
pada tulang belakang, pada tungkai otak atau pada keduanya. Penyebab syrinx yang
jarang terjadi ini umumnya terjadi karena bawaan sejak lahir dan kemudian untuk
alasan yang kurang dipahami hal ini melebar selama usia remaja atau dewasa muda.
Penderita sering mengalami kelainan struktur otak, tulang belakang, atau simpangan
antara tengkorak dan tulang belakang. Syrinx sering menyebabkan luka atau tumor, dan
sekitar 30% tumor tulang belakang terjadi karena syrinx. Syrinx berkembang pada tali
tulang belakang dan menekan dari dalam, cenderung mempengaruhi serat yang
melancarkan tanda dari otak pada gerak-gerik otot. Syrinx dapat terjadi di sepanjang
tulang belakang, tetapi sering dimulai dari leher dan mungkin memanjang menurun
sehingga mempengaruhi persyarafan seluruh tubuh.

Gambar diambil darihttp://en.wikipedia.org/wiki/Syringomyelia>syringomyela
TESTIMONI
Suami saya adalah penderita Malformasi chiari dengan syringomyela. Tak ada penyebab
secara pasti, awalnya tangan sering getar sendiri, utamanya ketika kelelahan. Punggung
nyeri, sering merasakan kejut seperti kesetrum saat batuk atau bersin. Tanda-tanda
seperti ini sudah kami periksakan dan beberapa dokter menyebutkan gejala stroke atau
stroke ringan. 4 tahun yang lalu jari-jari tangan melemah, dan kelemahan ini kian hari
kian bertambah hingga kedua lengan seperti tidak punya tenaga sama sekali. Perjalanan
pengobatan kami yang telah kesana kemari serasa tak ada perkembangan pasti. Bahkan
EMG yang dilakukan 2 tahun lalu masih menunjukkan hasil normal walaupun tangan kiri
sudah melemah. 2 bulan lalu sebenarnya kami sudah merasa seperti lelah dan putus
asa. Tetapi akhirnya ALLAH menjawab doa kami dengan menunjukkan penyakit yang
sebenarnya suami derita yang memang tergolong penyakit yang jarang terjadi.
Hal ini berawal dari pemeriksaan MRI contras yang kami lakukan menunjukkan hasil
bahwa ada penurunan posisi otak sekitar 3mm sehingga menimbulkan tonsil pada
pangkal otak C1 dan syringomyelipada sumsum tulang belakang di ruas C4-C5.
Sekalipun pernyataan dokter seperti ini membuat hati kami tak karuan karena
mendengar jenis penyakit yang memang jarang terjadi atau langka juga berbagai resiko
serta program dokter sebagai upaya penanganan penyakit ini yang tergolong cukup
berat,tetapi kami masih bersyukur karena sepak terjang kami selama 4 tahun demi ingin
mengetahui jenis penyakit dan upaya penyelesaiannya telah ditunjukkan ALLAH di depan
kami. Sekalipun sangat berat terselip keyakinan kami bahwa sesulit apapun ALLAH akan
meyertakan kemudahan dari jalan yang tak kami perkirakan.
Dengan mempertebal keyakinan dan doa juga semangat yang kami hembuskan pada
batin kami, akhirnya kami memutuskan mengikuti program dokter dengan penanganan
operasi yang diprogram 2 kali, pertama pada pangkal otak untuk penanganan
malformasi chiari dan operasi kedua pada sumsum tulang belakang dengan pemasangan
selang kecil pada ruas C5 sebagai penanganan syringomyelia. 40 hari bukan saat yang
ringan melalui hari-hari di RS Karyadi Semarang. Berbagai tahapan medis harus dilalui
dengan semangat sekalipun nyali kami harus naik turun karena kondisi kesehatan yang
juga naik turun.

Alhamdulillah.tahap itu telah selesai kami lalui dengan berbagai kisah pahit manis
bersama teman-teman kami berbagai penderita penyakit berat di bangsal Bedah Syaraf
RS Karyadi Semarang. Tulisan ini sengaja kami buat untuk berbagi kisah dan
penanganan kepada sesama penderita malformasi chiari dan syringomyela mengingat
penyakit ini yang masih tergolong langka. Saat tulisan ini dibuat suami masih menjalani
program Rehabilitasi Medis dengan 3 program, fisioterapi, orthose prothese dan terapi
okuptasi.





http://www.mountsinai.org/patient-care/service-areas/neurology/diseases-and-conditions/chiari-
malformation
Chiari malformation
Definition
Chiari malformation is an abnormality or structural defect in the cerebellum, the lower part of the brain
in the back of the head that controls balance. The indented space at the base of the skull, above the
foramen magnum, is a funnel-like opening to the spinal canal that normally holds the cerebellum and
parts of the brainstem. A Chiari malformation occurs if part of the cerebellum extends below the
foramen magnum.
Causes
There is no known cause for primary Chiari malformations. However, acquired or secondary Chiari
malformations may arise from excessive drainage of spinal fluid from the lumbar or thoracic areas of
the spine due to injury, exposure to harmful substances, or infection.
Primary or congenital Chiari malformation: structural defects in the brain and spinal cord that
occur during fetal development
The bony space is typically deformed or smaller than normal, and the normal structures are
crowded and compressed

Graphic image courtey of www.conquerchiari.org
Risks
Risk factors are traits or lifestyle habits associated with an increased chance of developing a disease
or condition. There are no known risk factors for Chiari malformation.
Chiari malformation can become a progressive disorder and lead to serious complications:
Hydrocephalus: accumulation of excess fluid within the brain
Syringomyelia: a cavity or cyst (syrinx) forms within the spinal column
Paralysis, which may occur due to the crowding and pressure on the spinal cord, tends to be
permanent, even after treatment with surgery
Death: an uncommon outcome, usually early in infancy, when a child is born with severe
congenital abnormalities in other parts of the central nervous system
Symptoms
Chiari malformations are classified by type, depending on their severity, and symptoms vary
according to the type.
Symptoms that may occur with any of the three types:
Headaches, often severe, typically precipitated with sudden coughing, sneezing, or straining
Neck pain
Muscle weakness
Numbness in arms, legs, or face
Problems with balance and coordination
Double or blurred vision
Dizziness
Swallowing difficulties
Hydrocephalus
Syringomyelia or syrinx (a cyst within the spinal cord); this may cause weakness, numbness,
tingling and/or clumsiness involving the upper and lower extremities
Spinal curvature
Type I
Sometimes asymptomatic-often found by accident during an examination for another
condition
Patients are usually in their mid- to late-thirties at diagnosis The syndrome is somewhat more
common in women
Type II
A greater amount of tissue protrudes into the spinal canal compared with Type I
Myelomeningocele: the spinal canal and backbone do not close before birth, causing the
spinal cord to protrude through an opening in the back. This can cause partial or complete
paralysis below the spinal opening.
Type III
Severe neurological defects
A portion of the lower back part of the brain (cerebellum) or the brainstem extends through an
abnormal opening in the back of the skull
Diagnosis
Diagnosis usually involves a thorough neurological exam and radiological imaging.
Complete physical examination in which the physician takes a medical history and asks
whether symptoms such as head and neck pain are present; physician will also conduct a
check of fine motor skills, reflexes, memory, cognition, balance, and cranial nerve function
Magnetic resonance imaging (MRI) is the imaging procedure most often used to diagnose a
Chiari malformation
Computed tomography (CT scan) can identify hydrocephalus and bone abnormalities
associated with Chiari malformation
X-ray of head and neck: can detect bone abnormalities often associated with Chiari
malformation but cannot detect the Chiari malformation itself
Treatment
Treatment depends on the severity and characteristics of your condition.
Monitoring with regular examinations for those with no symptoms
Headache and pain management with pain medication, physical therapy or a reduction in
activities can help manage symptoms
Primary surgical repair to reduce pressure on the cerebellum and the spinal cord and restore
the normal flow of spinal fluid
The most common operation for Chiari malformation is posterior fossa craniectomy or posterior fossa
decompression during which the surgeon removes a small section of bone in the back of the skull and
possibly the upper cervical spine, relieving pressure by giving the brain and brainstem more room.
Medications may ease certain symptoms, such as pain, but surgery is the only treatment available to
correct functional disturbances or halt the progression of damage to the central nervous system.
Primary repair of the Chiari malformation is frequently all that is required. Occasionally the
hydrocephalus or spinal syrinx do not go away and require separate shunting procedures.
Case Study
One such patient was a man in his mid-thirties with a history of severe, progressive headaches that
were made worse by coughing, bending, and stooping. He had noticed a change in the quality of his
voice and a difficulty swallowing. He also found himself gasping for breath on occasion. His workup
led to an MRI scan (left), which demonstrated a severe Chiari malformation associated with
compression of the cervicomedullary junction and a large cervical syrinx. After decompressive surgery
and recovery, the patient returned home and noticed almost immediate improvement in his
symptoms. He continued to improve and returned to his normal work schedule.

Preoperative MRI showing hydrocephalus, herniation of cerebellar tonsils and spinal syrinx

Postoperative MRI showing decrease in hydrocephalus, return to normal position of cerebellar tonsils,
and resolution of syrinx
MRI images used with permission from Joshua B. Bederson, MD
Prevention
There is no known way to prevent Chiari malformations.

To learn more about Chiari malformations call the Mount Sinai Department of Neurosurgery at 212-
241-2377.
Written by the Mount Sinai Department of Neurosurgery.
This information is provided to supplement the care provided by your physician. It is neither intended
nor implied to be a substitute for professional medical advice. Call you health care provider
immediately if you think you may have a medical emergency. Always seek the advice of your
physician or other qualified health provider before starting any new treatment or with any questions
you may have regarding a medical condition.