malformations of cerebellum

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Malformations of cerebellumDr Ahmad TahaOrient Hospital

www.orient-fm.com [email protected]

Cerebellum


Cerebellum


Cerebellum


Cerebellar hypoplasiaClassificationCerebellar dysplasia

www.orient-fm.com [email protected] hypoplasiaIsolated vermisOne hemisphere hypoplasia

Generalized hypoplasiaWith enlarged fourth ventricle(dandy-walker continuum)Normal fourth ventricleCerebellar hypoplasia

www.orient-fm.com [email protected] hypoplasia: reduced cerebellar volume2focal hypoplasiaisolated vermisone hemisphere hypoplasiageneralized hypoplasiawith enlarged fourth ventricleDandy-Walker continuumnormal fourth ventriclewith normal ponswith small ponsnormal foliationpontocerebellar hypoplasias of Barth, types I and IIcerebellar hypoplasias, not otherwise specified

http://radiopaedia.org/articles/classification-system-for-malformations-of-the-cerebellum6

Focal dysplasiaIsolated vermis dysplasiaIsolated hemisphere dysplasia

Generalized dysplasiaCongenital muscular dystrophiesCytomegalovirusLissencephaly with RELN mutationLissencephaly with agenesis of corpus callosum and cerebellar dysplasiaAssociated with diffuse cerebral polymicrogyriaDiffusely abnormal foliationCerebellar dysplasia

www.orient-fm.com [email protected] dysplasia:abnormal cerebellar foliation, fissuration, and architecture of the cerebellar white matter2focal dysplasiaisolated vermian dysplasiamolar tooth malformations includingJoubert syndromerhombencephalosynapsisisolated hemispheric dysplasiafocal cerebellar cortical dysplasias/heterotopiaLhermitte-Duclos-Cowden syndromegeneralized dysplasiacongenital muscular dystrophiescytomegaloviruslissencephaly with RELN mutationlissencephaly with agenesis of corpus callosum and cerebellar dysplasiaassociated with diffuse cerebral polymicrogyriadiffusely abnormal foliation

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Dandy-Walker Syndrome


Dandy-Walker SyndromeDefinition:Condition affects the brain developmentObserved with medical imaging

Central part of the cerebellum (vermis) is absent or very smallEnlarged forth ventricle due to cysts caused by sylvius canal obstructionEnlarged back compartment (posterior fossa) of the brain


HistoryWalter Edward Dandy (April 6, 1886 April 19, 1946) was an American neurosurgeon and scientist.

Arthur Earl Walker (1907January 1, 1995) was an American neurosurgeon, neuroscientist and epileptologist.


Dandy-Walker Association


How common is Dandy-Walker syndrome?Dandy-Walker syndrome is estimated to affect 1 in 25,000 to 30,000 newborns.


Dandy-Walker SyndromeCauses:Chromosomal defectsViral infectionsCertain toxins or medicationsMaternal diabetes


Dandy-Walker SyndromeSymptoms:Signs and symptoms caused by abnormal brain development appear within the first year of lifeDevelopmental delays in motor and language skillsPoor muscle tone, balance and coordinationProblems with eye movement (nystagmus)Vision and hearing impairmentSeizures

www.orient-fm.com [email protected]**1 such as sitting up, walking and talking14

Dandy-Walker SyndromeSymptoms:Muscle stiffness and paralysis of the lower limbs (spastic paraplegia)Progressive enlargement of the skull (macrocephaly) due to hydrocephalus.IrritabilityVomitingExcessive sleepness

www.orient-fm.com [email protected]** frequently15

Dandy-Walker SyndromeDiagnosis:Fetal MRIFetal UltrasoundMRI after birthUltrasound after birth


Ultrasound


Ultrasound


Ultrasound


MRI

Patient Data: Age:2 years - Gender:Male


Dandy-Walker SyndromeTreatment:The main course of treatment is to manage the complications:MedicationsSpeech therapyPhysical therapySurgical insertion of ventricularperitoneal shunt for hydrocephalusOccupational therapySpecial education


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Outcome:The chance of survival is 75% to 100%About half of the patients have normal IQSeizures: 15%Dandy-Walker Syndrome


ArnoldChiari malformation


ArnoldChiari malformationDefinition:A group of defects associated with congenital caudal 'displacement' of the cerebellum and brainstem.


ArnoldChiari malformationHistory:Hans Chiari (4 September 1851 6 May 1916) was an Austrian pathologist who was a native of Vienna. described the case of a 17-year-old woman with elongation of the tonsils into cone shaped projections which accompany the medulla and are crammed into the spinal canal.

1907: Schwalbe and Gredig, pupils of German pathologist Julius Arnold, described four cases of meningomyelocele and alterations in the brainstem and cerebellum, and gave the name "Arnold-Chiari" to these malformations

www.orient-fm.com [email protected]****based on the autopsies of children.25

World Arnold Chiari Malformation Associationwww.wacma.com

Staffed by volunteers, the World Arnold Chiari Malformation Association is committed to providing support, current information, and understanding to those affected by the Arnold Chiari malformation and syringomyelia


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ArnoldChiari malformationClassification:Type I: the most common variant of the Chiari malformationsCongenital; or acquired through traumacharacterised by caudal descent of the cerebellar tonsil (and brainstem in its subtype, Chiari 1.5) through the foramen magnum.Syringomyelia of cervical or cervicothoracic spinal cord can be seen

www.orient-fm.com [email protected] features:Headache, neck pain, unsteady gait usually during childhood.

Chiari I needs to be distinguished from tonsillar ectopia, which is an asymptomatic and incidental finding in normal individuals, whereby the tonsils protrude through the foramen magnum by no more than 3-5 mm 1-2.27

Ultrasound


MRI


MRI


Epidemiology:Chiari I malformations are more frequently encountered in females

ArnoldChiari malformation


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Symptoms:Headache, neck pain, unsteady gait usually during childhood.Those associated with syrinx or scoliosis.

12 mm > All patients are symptomaticBetween 5 mm and 10 mm: 30% of patients are asymptomatic.ArnoldChiari malformation

www.orient-fm.com [email protected] = SyringomyeliaThe likelihood of becoming symptomatic is proportional to the degree of downward descent of the tonsils. All patients who have greater than 12 mm of descent were symptomatic, whereas approximately 30% of those whose descent measured between 5 and 10 mm were asymptomaticBrainstem(medulla) compression andsyringomyeliawith associated symptoms and signs account for clinical presentation.32

callosal agenesis or absence of septi pellucidi cervical cord syrinx is present in ~35% (range 20-56%)hydrocephalus in up to 30% 1,3 of cases andboth are thought to result from abnormal CSF flow dynamics through the central canal of the cord and around the medullaIn ~35% (range 23-45%) of cases there are associated skeletal anomalies 1, 3:platybasia/basilar invaginationatlanto-occipital assimilationSprengel deformitysyndromic associationsCrouzon syndromeHajdu-Cheney syndromeKlippel-Feil syndromeArnoldChiari malformationAssociations:

www.orient-fm.com [email protected] Chiari I malformations are often isolated abnormalities; however, some associated anomalies have been described:

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Chiari 1.5 malformation:or bulbar variant of Chiari I malformation, is a term used in the literature to describe the combination of cerebellar tonsillar herniation seen in a case of Chiari I malformation along with caudal herniation of some portion of brainstem (often obex of the medulla oblongata) through the foramen magnum. considered progression of Chiari I malformation.ArnoldChiari malformation


Epidemiology: a lower incidence than Chiari I malformationPathology: Chiari 1.5 likely results from a Chiari I combined with a smaller posterior fossa that in turn leads to overcrowding and caudal displacement of the medullaArnoldChiari malformation

www.orient-fm.com [email protected] exact range of its incidence is unknownKim IK, Wang KC, Kim IO et-al. Chiari 1.5 malformation: an advanced form of Chiari I malformation. J Korean Neurosurg Soc. 2010;48 (4): 375-9

Aetiology

congenital: progression of Chiari 1 malformationacquiredintracranial mass lesionlumbar puncture35

Type II:Relatively common congenital malformation of the spine and posterior fossa.Characterised by myelomeningocoele (lumbosacral spina bifida aperta) and a small posterior fossa with descent of the brainstem.ArnoldChiari malformation

www.orient-fm.com [email protected] associated abnormalities are also frequently encountered. 36

MRI



Epidemiology:Chiari II malformations are encountered relatively commonly with an incidence of ~1:1000 live births.When a child is born with a myelomeningocoele the vast majority (~95%) have an associated Chiari II malformation.ArnoldChiari malformation


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Pathology:The malformation is characterised by a displacement of the medulla, fourth ventricle and cerebellum through the foramen magnum likely a result of a small posterior fossa.ArnoldChiari malformation


Differential diagnosis:Chiari I malformationdoes not have a myelomeningocoelemay occasionally have brainstem descentIsolated myelomeningocoele with out posterior fossa abnormalityArnoldChiari malformation


Chiari III:Is an extremely rare anomaly characterized by a low occipital and high cervical encephalocele with herniation of posterior fossa contents, that is, the cerebellum and/or the brainstem, occipital lobe, and fourth ventricle. ArnoldChiari malformation

www.orient-fm.com [email protected]:agenesis of the corpus callosumsyringohydromyelia of the cervical cord42

Chiari IV:Was a term some authors gave to describe a form of extreme cerebellar hypoplasia. This can be associated with hypoplasia of pons as well as a small funnel shaped posterior fossa. It is now considered to be an obsolete term.ArnoldChiari malformation


Chiari V malformation:absent cerebellum herniation of the occipital lobe through the foramen magnum Chiari 0 malformation:syrinxno cerebellar tonsil or brain stem descent ArnoldChiari malformation

www.orient-fm.com [email protected] associated with Chiari malformations:Hydrocephalus Spina bifida SyringomyeliaTethered cord syndrome Spinal curvature

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Diagnosis:Physical exam and check the persons memory, cognition, balance, touch, reflexes, sensation, and motor skills.X-ray Computed tomography (CT Scan)Magnetic resonance imaging (MRI)ArnoldChiari malformation


Treatment:Surgery is the only treatment available to correct functional disturbances (Posterior fossa decompression surgery)A related procedure, called a spinal laminectomyThe surgeon may also make an incision in the dura (Additional tissue may be added to the dura to create more space for the flow of CSF)Syringomyelia ArnoldChiari malformation

www.orient-fm.com [email protected] I: Treatment is usually reserved only for symptomatic patients or those with a syrinx. It consists of decompressing the posterior fossa, by removing part of the occipital bone, and posterior arch of C1 as well as performing a duroplasty.

Chiari 1.5: Posterior fossa decompression surgery for relieving any symptoms. Sometimes repeated surgeries are required.

Chiari II: reatment of patients with Chiari II malformations is complex due to the variety and variable severity of malformations:myelomeningocoele repair and management ofneurogenic bladderventricular shunting (usuallyventriculoperitoneal)hydrocephalus usually requires shunting and can help ameliorate cranial nerve and brainstem dysfunctioncraniovertebral decompressionmay also be required in neonates which brainstem dysfunction if hydrocephalus is not present or symptoms and signs do not improve with shuntingolder patients with hind brain herniation or syringohydromyelia may also benefit

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Conclusion Dandy walkerPartial or complete agenesis of cerebellar vermis4th ventricle communicates with cisterna magnaCisterna magna is enlarged


Conclusion Arnold Chiarilemon sign banana sign = small posterior fossaVentriculomegalySpina bifida

Chiari II

Chiari I


Thank you!


Clinical Team S. Samawi N. KafriS. ModiM. MousaIVF LabJ. Sharif R. DoghozA. Kadri A. Konali Fetal Med.A. TahaM. KhalafM. HazemahAndrology LabW. Hamad N. Assaf M. OthmanN. MazzawiS. Sheko Bio-Ginitic LabH. DroubiA. Khatib M. Kinj A. OthmanAdministration F. Hamad R. QamarM. Haj hasan N. OlabiE. FayadW. SakerMed Engineering Y. Khabori S. KhayatAnesthesiaR. TarkoY. LakkisM. KhadraH. Sulaiman

Acknowledgement



malformations of cerebellum

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