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| {{about|human cerebellar hypoplasia|cerebellar hypoplasia in other animals|cerebellar hypoplasia (non-human)}}
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| {{Infobox medical condition (new) | | {{Infobox medical condition |
| | name = | | | name = Cerebellar hypoplasia |
| | synonyms =
| | | image = <!-- Image removed --> |
| | image = File:Gray677.png | | | caption = <!-- Caption removed --> |
| | alt =
| | | field = Neurology |
| | caption = Normal cerebellum (lower area) | | | symptoms = Developmental delay, poor coordination |
| | pronounce =
| | | complications = [[Cerebral palsy]], [[Seizures]] |
| | synonym =
| | | onset = Congenital |
| | field = neurology | | | duration = Lifelong |
| | symptoms = | | | causes = Genetic mutations, prenatal infections |
| | complications = | | | diagnosis = [[MRI]], [[CT scan]] |
| | onset = | | | treatment = Supportive care, physical therapy |
| | duration = | | | frequency = Rare |
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| '''Cerebellar hypoplasia''' is characterized by reduced [[cerebellar]] volume, even though cerebellar shape is (near) normal. It consists of a heterogeneous group of disorders of [[cerebellum|cerebellar]] maldevelopment presenting as early-onset [[non progressive ataxia]], [[hypotonia]] and motor learning disability.
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| Various causes have been incriminated, including [[heredity|hereditary]], [[metabolism|metabolic]], [[toxin|toxic]] and [[virus|viral]] agents. It was first reported by French neurologist [[Octave Crouzon]] in 1929.<ref>{{Cite journal|url = |title = Atrophie cerebelleuse idiotique, in Etudes sur les Maladies Familiales Nerveuses et Dystrophiques.| vauthors = Crouzon O |date = 1929|journal = Paris: Masson |pages=90–111 |doi = |pmid = }}</ref> In 1940, an unclaimed body came for dissection in [[London Hospital]] and was discovered to have no cerebellum. This unique case was appropriately named "human brain without a cerebellum" and was used every year in the Department of Anatomy at [[Cambridge University]] in a neuroscience course for medical students.<ref name="pmid20305277">{{cite journal | vauthors = Lemon RN, Edgley SA | title = Life without a cerebellum | journal = Brain : A Journal of Neurology | volume = 133 | issue = Pt 3 | pages = 652–4 | date = March 2010 | pmid = 20305277 | doi = 10.1093/brain/awq030 | doi-access = free }}</ref>
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| Cerebellar hypoplasia can sometimes present alongside [[hypoplasia of the corpus callosum]] or [[pons]]. It can also be associated with [[hydrocephalus]] or an enlarged [[fourth ventricle]]; this is called [[Dandy–Walker malformation]].<ref>{{Cite journal|last=Aldinger|first=Kimberly A.|last2=Doherty|first2=Dan|date=October 2016|title=The genetics of cerebellar malformations|journal=Seminars in Fetal & Neonatal Medicine|volume=21|issue=5|pages=321–332|doi=10.1016/j.siny.2016.04.008|issn=1744-165X|pmc=5035570|pmid=27160001}}</ref>
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| == Signs and symptoms ==
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| Non-progressive early onset [[ataxia]] and poor motor learning are the commonest presentation.<ref name=":2" />
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| == Diagnosis==
| | '''Cerebellar hypoplasia''' is a neurological condition in which the [[cerebellum]] is smaller than usual or not completely developed. This condition can affect [[motor skills]], [[balance]], and [[coordination]]. |
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| === MR imaging === | | == Causes == |
| | Cerebellar hypoplasia can be caused by a variety of factors, including genetic mutations, prenatal infections, and exposure to toxins during pregnancy. Some known genetic causes include mutations in the [[VLDLR]] gene and [[Reelin]] gene. |
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| Three dimensional (3D) T1W, Axial, coronal, sagittal imaging is excellent for differentiation between gray matter and white matter acquisition of high-resolution anatomic information.T2W, Axial and coronal imaging for acquisition of high-resolution anatomic information; delineation of cortex, white matter, and gray matter nuclei. Diffusion tensor, axial imaging is used for evaluation of white matter microstructural integrity, identification of white matter tracts. CISS, axial + MPR imaging for evaluation of cerebellar folia, cranial nerves, ventricles, and foramina. Susceptibility weighted axial scan for Identification and characterization of hemorrhage, blood products, calcification, and iron accumulation.<ref name=":3" />
| | == Symptoms == |
| | Individuals with cerebellar hypoplasia may exhibit symptoms such as developmental delay, poor coordination, and difficulty with fine motor skills. In some cases, cerebellar hypoplasia can be associated with other conditions such as [[cerebral palsy]] and [[seizures]]. |
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| === Classification === | | == Diagnosis == |
| Classification systems for malformations of the cerebellum are varied and are constantly being revised as greater understanding of the underlying genetics and embryology of the disorders is uncovered. A classification proposed by Patel S in 2002<ref>{{cite journal | vauthors = Patel S, Barkovich AJ | title = Analysis and classification of cerebellar malformations | journal = AJNR. American Journal of Neuroradiology | volume = 23 | issue = 7 | pages = 1074–87 | date = August 2002 | pmid = 12169461 }}</ref> divides cerebellar malformations in two broad groups; those with cerebellar hypoplasia and; those with cerebellar dysplasia.
| | Diagnosis of cerebellar hypoplasia typically involves imaging studies such as [[MRI]] or [[CT scan]] to assess the size and structure of the cerebellum. Genetic testing may also be conducted to identify any underlying genetic causes. |
| * I. Cerebellar hypoplasia
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| ** A. Focal hypoplasia
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| *** 1. Isolated vermis
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| *** 2. One hemisphere hypoplasia
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| ** B. Generalized hypoplasia
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| *** 1. With enlarged fourth ventricle (“cyst,”), [[Dandy–Walker syndrome|Dandy–Walker continuum]]
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| *** 2. Normal fourth ventricle (no “cyst”)
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| **** a. With normal pons
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| **** b. With small pons i. Normal foliation
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| ***** a) Pontocerebellar hypoplasias of Barth, types I and II
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| ***** b) Cerebellar hypoplasias, not otherwise specified
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| == Treatment == | | == Treatment == |
| There is no standard course of treatment for cerebellar hypoplasia. Treatment depends upon the underlying disorder and the severity of symptoms. Generally, treatment is symptomatic and supportive.<ref name=":1">{{Cite web|title = Cerebellar Hypoplasia Information Page | work = National Institute of Neurological Disorders and Stroke (NINDS) |url = http://www.ninds.nih.gov/disorders/cerebellar_hypoplasia/cerebellar_hypoplasia.htm |access-date = 2016-01-22|url-status = dead|archive-url = https://web.archive.org/web/20150104180252/http://www.ninds.nih.gov/disorders/cerebellar_hypoplasia/cerebellar_hypoplasia.htm|archive-date = 2015-01-04 }}</ref> Balance rehabilitation techniques may benefit those experiencing difficulty with balance.<ref>{{cite web | title = Cerebellar Hypoplasia | work = Sensory Learning | date = 7 March 2009 | url = http://www.sensorylearning.com.au/content/cerebellar-hypoplasia | archive-url = https://web.archive.org/web/20090307181049/http://www.sensorylearning.com.au/content/cerebellar-hypoplasia | archive-date = 7 March 2009 }}</ref> Treatment is based on the underlying disorder and the symptom severity. Therapies include physical, occupational, speech/language, visual, psychiatric/behavioral meds, and special education. | | There is no cure for cerebellar hypoplasia, but treatment focuses on managing symptoms and improving quality of life. This may include supportive care, physical therapy, and occupational therapy to help individuals develop motor skills and improve coordination. |
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| == Prognosis == | | == Prognosis == |
| The prognosis of this developmental disorder is highly based on the underlying disorder. Cerebellar hypoplasia may be progressive or static in nature. Some cerebellar hypoplasia resulting from congenital brain abnormalities/malformations are not progressive. Progressive cerebellar hypoplasia is known for having poor prognosis, but in cases where this disorder is static, prognosis is better.{{Citation needed|date=July 2018}} | | The prognosis for individuals with cerebellar hypoplasia varies depending on the severity of the condition and the presence of any associated disorders. Some individuals may lead relatively normal lives with appropriate support, while others may have significant disabilities. |
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| == History == | | == See also == |
| Following clinical report by Crouzon in 1929 Sarrouy reported two pairs of siblings with congenital cerebellar hypoplasia in 1958.<ref name=":0">{{cite journal | vauthors = Sarrouy C, Raffi A, Boineau N | title = [2 Cases of cerebellar hypoplasia in the same family] | journal = Archives Francaises de Pediatrie | volume = 14 | issue = 5 | pages = 449–60 | date = 1957-01-01 | pmid = 13445326 }}</ref> However pons, pyramidal tract and corpus callosum were also involved in these cases.<ref name=":0" /> Wichman et al. in 1985 reported three sibling pairs with congenital cerebellar hypoplasia. "All six children presented in the first years of life with delays in motor and language development. All patients showed cerebellar and/or vermal dysfunction and, on formal psychometric testing, cognitive abilities ranged from normal to moderately retarded. Abnormalities on CT scan ranged from prominent valleculla to an enlarged cisterna magna with hypoplasia of the cerebellar hemispheres and vermis. The pedigrees are consistent with autosomal recessive inheritance."<ref name=":2">{{cite journal | vauthors = Wichman A, Frank LM, Kelly TE | title = Autosomal recessive congenital cerebellar hypoplasia | journal = Clinical Genetics | volume = 27 | issue = 4 | pages = 373–82 | date = April 1985 | pmid = 3995786 | doi = 10.1111/j.1399-0004.1985.tb02279.x }}</ref> Mathews KD, in 1989 also reported two cases of cerebellar hypoplasia in a family with unaffected parents suggestive of autosomal recessive inheritance.<ref>{{cite journal | vauthors = Mathews KD, Afifi AK, Hanson JW | title = Autosomal recessive cerebellar hypoplasia | journal = Journal of Child Neurology | volume = 4 | issue = 3 | pages = 189–94 | date = July 1989 | pmid = 2768782 | doi = 10.1177/088307388900400307 | url = https://www.semanticscholar.org/paper/066ad88435b74ddd27130370aad19f4c677c4790 }}</ref> The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging with frequent reporting of posterior fossa malformation.<ref name=":3">{{cite journal | vauthors = Bosemani T, Orman G, Boltshauser E, Tekes A, Huisman TA, Poretti A | title = Congenital abnormalities of the posterior fossa | journal = Radiographics | volume = 35 | issue = 1 | pages = 200–20 | date = 2015-02-01 | pmid = 25590398 | doi = 10.1148/rg.351140038 | doi-access = free }}</ref>
| | * [[Cerebellum]] |
| | * [[Neurological disorder]] |
| | * [[Developmental disorder]] |
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| == References == | | == References == |
| {{Reflist}}
| | <references /> |
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| == External links == | | == External links == |
| {{Medical resources
| | * [https://www.ninds.nih.gov/Disorders/All-Disorders/Cerebellar-Hypoplasia-Information-Page National Institute of Neurological Disorders and Stroke - Cerebellar Hypoplasia] |
| | DiseasesDB =
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| | ICD10 = {{ICD10|Q04.3}}
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| | ICD9 = <nowiki>742.2</nowiki>
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| | ICDO =
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| | OMIM =213000
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| | MedlinePlus =
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| | MeSH =C562568
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| | GeneReviewsNBK =
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| | GeneReviewsName =
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| | Orphanet =1398
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| }}
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| *{{NINDS|Cerebellar-Hypoplasia}}
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| *{{RareDiseases|1194|Cerebellar hypoplasia}}
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| {{Lesions of spinal cord and brain}}
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| {{DEFAULTSORT:Cerebellar Hypoplasia}}
| | [[Category:Neurological disorders]] |
| [[Category:Systemic atrophies primarily affecting the central nervous system]] | | [[Category:Congenital disorders]] |
| [[Category:Congenital disorders of nervous system]] | | [[Category:Rare diseases]] |
| [[Category:Genetic disorders with no OMIM]] | | <gallery> |
| {{dictionary-stub1}}
| | File:Gray677.png|Cerebellar hypoplasia |
| | </gallery> |
| Cerebellar hypoplasia
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| Synonyms
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N/A
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| Pronounce
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N/A
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| Specialty
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N/A
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| Symptoms
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Developmental delay, poor coordination
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| Complications
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Cerebral palsy, Seizures
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| Onset
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Congenital
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| Duration
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Lifelong
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| Types
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N/A
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| Causes
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Genetic mutations, prenatal infections
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| Risks
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N/A
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| Diagnosis
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MRI, CT scan
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| Differential diagnosis
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N/A
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| Prevention
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N/A
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| Treatment
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Supportive care, physical therapy
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| Medication
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N/A
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| Prognosis
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N/A
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| Frequency
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Rare
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| Deaths
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N/A
|
Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed. This condition can affect motor skills, balance, and coordination.
Cerebellar hypoplasia can be caused by a variety of factors, including genetic mutations, prenatal infections, and exposure to toxins during pregnancy. Some known genetic causes include mutations in the VLDLR gene and Reelin gene.
Symptoms[edit]
Individuals with cerebellar hypoplasia may exhibit symptoms such as developmental delay, poor coordination, and difficulty with fine motor skills. In some cases, cerebellar hypoplasia can be associated with other conditions such as cerebral palsy and seizures.
Diagnosis[edit]
Diagnosis of cerebellar hypoplasia typically involves imaging studies such as MRI or CT scan to assess the size and structure of the cerebellum. Genetic testing may also be conducted to identify any underlying genetic causes.
Treatment[edit]
There is no cure for cerebellar hypoplasia, but treatment focuses on managing symptoms and improving quality of life. This may include supportive care, physical therapy, and occupational therapy to help individuals develop motor skills and improve coordination.
Prognosis[edit]
The prognosis for individuals with cerebellar hypoplasia varies depending on the severity of the condition and the presence of any associated disorders. Some individuals may lead relatively normal lives with appropriate support, while others may have significant disabilities.
See also[edit]
References[edit]
<references />
External links[edit]
Cerebellar hypoplasia
