Cerebellar hypoplasia

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List of terms related to Cerebellar hypoplasia

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.

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 [disease name] is characterized by [feature1], [feature2], and [feature3].
• The [gene name] gene/Mutation in [gene name] has been associated with the development of [disease name], involving the [molecular pathway] pathway.
• On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
• On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Causes

[Cerebellar hypoplasia] may be caused by variety of causes including [brain malformations], [genetic defects], [chromosomal aberrations], [prenatal infections], [prenatal exposure to teratogens], [disruptive lesions], [metabolic disorders].

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.

OR

Common causes of [disease] include [cause1], [cause2], and [cause3].

OR

The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of [disease name] has not been identified. 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

• The prevalence of [disease name] is approximately [number or range] per 100,000 individuals worldwide.
• In [year], the incidence of [disease name] was estimated to be [number or range] cases per 100,000 individuals in [location].

Age

• Patients of all age groups may develop [disease name].

• [Disease name] is more commonly observed among patients aged [age range] years old.
• [Disease name] is more commonly observed among [elderly patients/young patients/children].

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 racial predilection for [disease name].

• [Disease name] usually affects individuals of the [race 1] race.
• [Race 2] individuals are less likely to develop [disease name].

Risk Factors

• Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

Natural History, Complications and Prognosis

• The majority of patients with [disease name] remain asymptomatic for [duration/years].
• Early clinical features include [manifestation 1], [manifestation 2], and [manifestation 3].
• If left untreated, [#%] of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 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.

Diagnosis

Diagnostic Criteria

• The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:

• [criterion 1]
• [criterion 2]
• [criterion 3]
• [criterion 4]

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]

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

There are no CT scan findings associated with [disease name].

OR

[Brain] CT scan may be helpful in the diagnosis of [cerebellar hypoplasia] but MRi remains the diagnostic study of choice. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

MRI

MRI is the diagnostic study of choice for diagnosis of cerebellar hypoplasia. It can 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.

Other Imaging Studies

[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.

Other Diagnostic Studies

There are no other diagnostic studies associated with [disease name].

OR

[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

• There is no standard treatment for [cerebellar hypoplasia]; the mainstay of therapy is symptomatic and supportive care and largely depends upon the underlying etiology.

• The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
• [Medical therapy 1] acts by [mechanism of action 1].
• Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].

Surgery

• Surgery is the mainstay of therapy for [disease name].
• [Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
• [Surgical procedure] can only be performed for patients with [disease stage] [disease name].

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].

External links

• Australian Capital Territory Cerebellar Hypoplasia Support Network Incorporated