Pontocerebellar hypoplasia
Citation, DOI, disclosures and article data
Citation:
Di Muzio B, Ashraf A, Ibrahim D, et al. Pontocerebellar hypoplasia. Reference article, Radiopaedia.org (Accessed on 06 Dec 2024) https://doi.org/10.53347/rID-37975
Permalink:
rID:
37975
Article created:
Disclosures:
At the time the article was created Bruno Di Muzio had no recorded disclosures.
View Bruno Di Muzio's current disclosures
Last revised:
Disclosures:
At the time the article was last revised Ammar Ashraf had no financial relationships to ineligible companies to disclose.
View Ammar Ashraf's current disclosures
Revisions:
8 times, by
8 contributors -
see full revision history and disclosures
Systems:
Synonyms:
- Pontocerebellar hypoplasia of Barth
- Barth's pontocerebellar hypoplasia
- Barth's pontocerebellar hypoplasias
- Pontocerebellar hypoplasias
- Pontocerebellar hypoplasias of Barth
Pontocerebellar hypoplasia, also referred as pontocerebellar hypoplasia of Barth, is an autosomal recessive neurodegenerative disorder characterized by hypoplasia of the pons and cerebellum. This condition has 10 different described subtypes, all of them with a prenatal onset 3.
History and etymology
Pontocerebellar hypoplasia was first described as a specific entity by a Dutch pediatric neurologist, Peter G Barth (fl. 2018) in 1990 4.
Quiz questions
{"containerId":"expandableQuestionsContainer","displayRelatedArticles":true,"displayNextQuestion":true,"displaySkipQuestion":true,"articleId":37975,"questionManager":null,"mcqUrl":"https://radiopaedia.org/articles/pontocerebellar-hypoplasia/questions/820?lang=us"}
References
- 1. Namavar Y, Barth PG, Poll-The BT et-al. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis. 2011;6 (1): 50. doi:10.1186/1750-1172-6-50 - Free text at pubmed - Pubmed citation
- 2. Rudnik-Schöneborn S, Senderek J, Jen JC et-al. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology. 2013;80 (5): 438-46. doi:10.1212/WNL.0b013e31827f0f66 - Free text at pubmed - Pubmed citation
- 3. Bosemani T, Orman G, Boltshauser E et-al. Congenital abnormalities of the posterior fossa. Radiographics. 2015;35 (1): 200-20. doi:10.1148/rg.351140038 - Pubmed citation
- 4. Barth PG, Vrensen GF, Uylings HB, Oorthuys JW, Stam FC. Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset. (1990) Journal of the neurological sciences. 97 (1): 25-42. Pubmed
Incoming Links
Articles:
Cases:
Multiple choice questions:
Related articles: Malformations of the central nervous system
-
malformations of cortical development
- abnormal cell proliferation or apoptosis
- abnormal brain size
-
microcephaly
- with normal to simplified cortical pattern
- microcephaly with lissencephaly
- microcephaly with extensive polymicrogyria
- macrocephalies (megalencephaly/macrocephaly)
-
microcephaly
- abnormal cell proliferation
- non-neoplastic
- cortical hamartomas of tuberous sclerosis
- hemimegalencephaly
-
focal cortical dysplasia (Type I and Type IIb)
- Palmini classification (2004)
- Barkovich classification (2005)
- Blumcke classification (2011)
- neoplastic
- non-neoplastic
- abnormal neuronal migration
- lissencephaly
- lissencephaly type I: subcortical band heterotopia spectrum (band heterotopia): undermigration
- lissencephaly type II (cobblestone complex)
- heterotopia: ectopic migration
- subependymal heterotopia
- subcortical heterotopia (not including band heterotopia)
- marginal glioneuronal heterotopia
- lissencephaly
- abnormal cortical organization
- mild malformations of cortical development (previously microdysgenesis)
-
polymicrogyria and schizencephaly
- bilateral polymicrogyria syndromes
- schizencephaly
- focal cortical dysplasia (Type IIa)
- abnormal brain size
- not otherwise classified
- malformations secondary to inborn errors of metabolism
- mitochondrial and pyruvate metabolic disorders
- peroxisomal disorders
- other unclassified malformations
- malformations secondary to inborn errors of metabolism
- abnormal cell proliferation or apoptosis
-
midline abnormalities of the brain
- absent septum pellucidum
- cephaloceles
-
midline nasal region lesions
- nasal dermoid
- nasal glioma
- nasal dermal sinus
- cerebral hemispheres
-
holoprosencephaly/septo-optic dysplasia spectrum
- septo-optic dysplasia
- lobar holoprosencephaly
- semilobar holoprosencephaly
- alobar holoprosencephaly
- middle interhemispheric variant/syntelencephaly
-
holoprosencephaly/septo-optic dysplasia spectrum
- corpus callosum
- intracranial lipoma
-
malformations of the cerebellum
- cerebellar hypoplasia
- focal hypoplasia
- generalized hypoplasia
- with enlarged fourth ventricle
- normal fourth ventricle
- with normal pons
- with small pons
- normal foliation
- pontocerebellar hypoplasias of Barth, types I and II
- cerebellar hypoplasias, not otherwise specified
- normal foliation
- cerebellar dysplasia
- focal dysplasia
- isolated vermian dysplasia
- molar tooth malformations including Joubert syndrome
- rhombencephalosynapsis
- isolated hemispheric dysplasia
- focal cerebellar cortical dysplasias/heterotopia
- dysplastic cerebellar gangliocytoma
- isolated vermian dysplasia
- generalized dysplasia
- congenital muscular dystrophies
- cytomegalovirus
- lissencephaly with RELN mutation
- lissencephaly with agenesis of corpus callosum and cerebellar dysplasia
- associated with diffuse cerebral polymicrogyria
- diffusely abnormal foliation
- focal dysplasia
- cerebellar hypoplasia
- malformations of the brainstem
Unable to process the form. Check for errors and try again.