Cerebellar hypoplasia: Difference between revisions
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== Overview == | == Overview == | ||
Cerebellar hypoplasia is a condition in which cerebellar volume is significantly reduced but its shape remains intact. | Cerebellar hypoplasia is a condition in which cerebellar volume is significantly reduced but its shape remains intact. It occurs in multiple diseases and has various patterns on neuroimaging. | ||
== Historical Perspective == | == Historical Perspective == | ||
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== Pathophysiology == | == Pathophysiology == | ||
* The pathogenesis of [cerebellar hypoplasia] is related to multiple disease processes. These include genetics mutations in certain genes involved in organization and maturation of fetal brain in pregnancy e.g Wnt family, En1 & 2, WDR 73 genes, and chromosomal abnormalities especially trisomy 9, 13, 18. Other disease processes associated with cerebellar hypoplasia include prenatal infections, prenatal exposure to teratogens, disruptive lesions, metabolic abnormalities. | * The pathogenesis of [cerebellar hypoplasia] is related to multiple disease processes. These include genetics mutations in certain genes involved in organization and maturation of fetal brain in pregnancy e.g Wnt family, En1 & 2, WDR 73 genes, and chromosomal abnormalities especially trisomy 9, 13, 18. Other disease processes associated with cerebellar hypoplasia include prenatal infections, prenatal exposure to teratogens, disruptive lesions, metabolic abnormalities.. | ||
* On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].. | |||
* On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name]. | |||
== Causes == | == Causes == | ||
[Cerebellar hypoplasia] may be caused by variety of | [Cerebellar hypoplasia] may be caused by variety of etiologies listed below in the table. | ||
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To review risk factors for the development of [disease name], click [[Pericarditis causes#Overview|here]]. | |||
== Differentiating [disease name] from other Diseases == | == Differentiating [disease name] from other Diseases == | ||
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* There is no proven racial predilection for [cerebellar hypoplasia]. In a study, non-hispanic black maternal race was at a slightly increased risk of cerebellar hypoplasia but the results were statistically non-significant. | * There is no proven racial predilection for [cerebellar hypoplasia]. In a study, non-hispanic black maternal race was at a slightly increased risk of cerebellar hypoplasia but the results were statistically non-significant. | ||
== Risk Factors == | == Risk Factors == | ||
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== Natural History, Complications and Prognosis == | == Natural History, Complications and Prognosis == | ||
* Common complications of [disease name] include [complication 1], [complication 2], and [complication 3]. | * Common complications of [disease name] include [complication 1], [complication 2], and [complication 3]. | ||
* Prognosis of cerebellar hypoplasia generally depends upon the underlying etiology. Cerebellar hypoplasia associated with non-progressive disorders (e.g abnormal brain formation during fetal development), has a relatively better prognosis. On the other hand, cerebellar hypoplasia associated with progressive conditions has poor prognosis. | * Prognosis of cerebellar hypoplasia generally depends upon the underlying etiology. Cerebellar hypoplasia associated with non-progressive disorders (e.g abnormal brain formation during fetal development), has a relatively better prognosis. On the other hand, cerebellar hypoplasia associated with progressive conditions has poor prognosis. | ||
== Diagnosis == | == Diagnosis == | ||
=== History and Symptoms. === | === History and Symptoms. === | ||
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=== CT scan === | === CT scan === | ||
[Brain] CT scan may be helpful in the diagnosis of [cerebellar hypoplasia] but MRi remains the diagnostic study of choice. | |||
[Brain] CT scan may be helpful in the diagnosis of [cerebellar hypoplasia] but MRi remains the diagnostic study of choice | |||
=== MRI === | === MRI === | ||
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[Diffusion tensor imaging] may be helpful in the diagnosis of [cerebellar hypoplasia]. Cerebellar microarchitecture and cerebellar white matter tracts along with their connections are ellaborated by diffuse tensor imaging. Disruptive lesions can be better identified using susceptibilty weighted imaging as it has high sensitivity for blood products and calcifications. | [Diffusion tensor imaging] may be helpful in the diagnosis of [cerebellar hypoplasia]. Cerebellar microarchitecture and cerebellar white matter tracts along with their connections are ellaborated by diffuse tensor imaging. Disruptive lesions can be better identified using susceptibilty weighted imaging as it has high sensitivity for blood products and calcifications. | ||
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== Treatment == | == Treatment == | ||
* There is no standard treatment for [cerebellar hypoplasia]; the mainstay of therapy is symptomatic and supportive care and largely depends upon the underlying etiology. | * There is no standard treatment for [cerebellar hypoplasia]; the mainstay of therapy is symptomatic and supportive care and largely depends upon the underlying etiology. | ||
=== Prevention === | === Prevention === | ||
Revision as of 11:26, 14 August 2020
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Synonyms and keywords:
Overview
Cerebellar hypoplasia is a condition in which cerebellar volume is significantly reduced but its shape remains intact. It occurs in multiple diseases and has various patterns on neuroimaging.
Historical Perspective
- [Disease name] was first discovered by [scientist name], a [nationality + occupation], in [year] during/following [event].
- In [year], [gene] mutations were first identified in the pathogenesis of [disease name].
- In [year], the first [discovery] was developed by [scientist] to treat/diagnose [disease name].
Classification
- [Cerebellar hypoplasia] may be classified according to [extent of cerebellar involvement] into [four] subtypes:
- [Unilateral cerebellar hypoplasia]
- [Cerebellar hypoplasia with predominant involvement of vermis]
- [Global cerebellar hypoplasia involving both vermis and cerebellar hemispheres]
- [Hypoplasia involving pons along with cerebellum i.e pontocerebellar hypoplasia]
Pathophysiology
- The pathogenesis of [cerebellar hypoplasia] is related to multiple disease processes. These include genetics mutations in certain genes involved in organization and maturation of fetal brain in pregnancy e.g Wnt family, En1 & 2, WDR 73 genes, and chromosomal abnormalities especially trisomy 9, 13, 18. Other disease processes associated with cerebellar hypoplasia include prenatal infections, prenatal exposure to teratogens, disruptive lesions, metabolic abnormalities..
- On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name]..
Causes
[Cerebellar hypoplasia] may be caused by variety of etiologies listed below in the table.
| Disease processes/groups | Examples | ||
|---|---|---|---|
| Genetic disorders | gillepsie syndrome, beckwith-Wiedemann syndrome, ritscher shinzel syndrome, hoyeraal hreidarsson syndrome, charge syndrome,
endostel sclerosis, Delleman syndrome, epilepsy and permanent neonatal diabetes syndrome, neurofibromatosis type, pseudo torch syndrome, velocardiofacial syndrome, cohen syndrome, pallister killian syndrome, cri du chat syndrome, senger syndrome, galloway mowat syndrome, CASK mutation, cerebellar agenesis. |
||
| Metabolic diseases | adenylsuccinase deficiency, molybdenum cofactor deficiency, smith-lemli-opitz syndrome, Zellweger syndrome, copper metabolism disease, mucopolysacchridoses,mitochondrial disorders, congenital glycosylation disorders | ||
| Prenatal infections | Congenital cytomegalo virus | ||
| Prenatal teratogens | Antiepileptic drugs (valproic acid, phenytoin), retinoic acid, cocaine, alcohol | ||
| Disruptive lesions | Cerebellar agenesis, cerebellar injury secondary to prematurity | ||
| Brain malformations | Dandy walker syndrome, Rhombencephalosynapsis, Joubert syndrome, pontine tegmental cap dysplasia, lissencephaly, polymicrogyria, primary microcephaly. |
To review risk factors for the development of [disease name], click here.
Differentiating [disease name] from other Diseases
- [Cerebellar hyoplasia] must be differentiated from cerebellar atrophy. Neuroimaging can help differentiate between the 2 entities. In case of cerebellar atrophy, there is loss of cerebellar parenchyma with subsequent expansion of interfolial spaces.
Epidemiology and Demographics
- From [1997-2011], the prevalence of [cerebellar hypoplasia] was estimated to be [1.30] cases per 100,000 births, in a study recruiting individuals from 10 states of Unites States. Prevalence of cerebellar hypoplasia increased overtime. From year 1997-2004, prevalence of cerebellar hypoplaisa was estimated to be around 0.68 per 100,000 births while it raised to 2.00 per 100,000 births from year 2005-2011. In another study, a child neurologist reported that 0.4 %(11 out of 2500) of children visiting him had cerebellar hypoplasia. Another study recruiting 188 children with developmental delays reported that 4.5% of the study population had cerebellar hypoplasia.
Age
- [Cerebellar hypoplasia] may be detected in utero but as trans cerebellar diameter is not measured routinely in 3rd trimester so diagnosis is sometimes delayed to post-natal period. However, in case of pontocerebellar hypoplasia inutero diagnosis is considered difficult and it is mostly diagnosed after birth.
Gender
- [Disease name] affects men and women equally.
- [Gender 1] are more commonly affected with [disease name] than [gender 2].
- The [gender 1] to [Gender 2] ratio is approximately [number > 1] to 1.
Race
- There is no proven racial predilection for [cerebellar hypoplasia]. In a study, non-hispanic black maternal race was at a slightly increased risk of cerebellar hypoplasia but the results were statistically non-significant.
Risk Factors
- Common risk factors in the development of [cerebellar hypoplasia] are [low birth weight], [preterm birth], [multiple pregnancies], [prenatal infections], [prenatal use of anti epileptic drugs], [maternal use of alcohol or cocaine]. Maternal hypertension and maternal use of vasoactive medications have also been associated with increased risk of cerebellar hypoplasia but results were not statistically significant. Postnatal glucocorticoid use in preterm infants has also been associated with poor cerebellar development and maturation.
Natural History, Complications and Prognosis
- Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
- Prognosis of cerebellar hypoplasia generally depends upon the underlying etiology. Cerebellar hypoplasia associated with non-progressive disorders (e.g abnormal brain formation during fetal development), has a relatively better prognosis. On the other hand, cerebellar hypoplasia associated with progressive conditions has poor prognosis.
Diagnosis
History and Symptoms.
- Symptoms of [disease name] may include the following:
- [Seizures]
- [Behavioral abnormalities]
- [Muscular hypotonia]
- [Tremors]
- [Microcephaly]
- [Poor/absent language/speech development]
- [Intellectual disability]
- [Headache]
- [Hearing impairment]
- [Dizzy spells]
Physical Examination
- Physical examination may be remarkable for:
- [Truncal ataxia]
- [Hypotonia]
- [Abnormal ocular movements]
- [Intention tremors]
- [Speech/language abnormalities]
- [Developmental delay in children]
CT scan
[Brain] CT scan may be helpful in the diagnosis of [cerebellar hypoplasia] but MRi remains the diagnostic study of choice.
MRI
MRI is the diagnostic study of choice for diagnosis of cerebellar hypoplasia. Findings on MRI suggestive of cerebellar hypoplasia include small trans cerebellar diameter, reduced cerebellar volume with intact cerebellar morphology and prominent subarachnoid spaces. It can also identify one of the 4 patterns of cerebellar hypoplasia that include unilateral cerebellar hypoplasia, hypoplasia involving cerebellar vermis, hypoplasia involving both cerebellar hemispheres and vermis, pontocerebellar hypoplasia. Sometimes in pontocerebellar hypoplasia, cerebellar hemispheres are so profoundly involved that neuroimaging reveals a "dragon fly" appearance showing small flattened cerebellar hemispheres with relatively spared vermis.
Other Imaging Studies
Inutero ultrasonography can reveal reduced trans cerebellar diameter alongwith other findings suggestive of cerebellar hypoplasia. [Diffusion tensor imaging] may be helpful in the diagnosis of [cerebellar hypoplasia]. Cerebellar microarchitecture and cerebellar white matter tracts along with their connections are ellaborated by diffuse tensor imaging. Disruptive lesions can be better identified using susceptibilty weighted imaging as it has high sensitivity for blood products and calcifications.
Treatment
- There is no standard treatment for [cerebellar hypoplasia]; the mainstay of therapy is symptomatic and supportive care and largely depends upon the underlying etiology.
Prevention
- There are no primary preventive measures available for [disease name].
- Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
- Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].
References
External links