Cerebellar Hypoplasia: Causes & Reasons

Possible Causes for Cerebellar Hypoplasia

Autosomal Dominant Dyskeratosis Congenita Type 2

hypoplasia. [disorders.eyes.arizona.edu]

hypoplasia and growth retardation Diagrams / tables Images hosted on other servers : Defects in cellular proliferation and differentiation that give rise to dyskeratosis [pathologyoutlines.com]

hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 SW Knight, NS Heiss, TJ Vulliamy, CM Aalfs, C McMahon, P Richmond, .. [scholar.google.com]

Dyskeratosis Congenita

hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation. [ncbi.nlm.nih.gov]

hypoplasia More severe disorders and complications include The development in 80% of patients, most often in the second decade of life, of bone marrow deficiency of variable [afdc.asso.fr]

CNS calcification was reported in 15 of the 20 cases in the literature, cerebellar hypoplasia in 2, and 2 cases had both CNS calcifications and cerebellar hypoplasia [12;17 [ncbi.nlm.nih.gov]

Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

Showing of 14 | 80%-99% of people have these symptoms Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Dandy-Walker malformation 0001305 Dolichocephaly [rarediseases.info.nih.gov]

Hoyeraal-Hreidarsson Syndrome

We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay. [ncbi.nlm.nih.gov]

Medical Genetics Original Paper Abstract We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental [link.springer.com]

Hreidarsson S, Kristjansson K, Johannesson G, Johannsson JH (1988) A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. [link.springer.com]

Dandy-Walker Syndrome

hypoplasia, hydrocephalus, and posterior fossa cyst formation. [medical-dictionary.thefreedictionary.com]

[…] callosum and callosal lipomas, dysplasia of the brainstem, and cerebellar hypoplasia or dysgenesis. [asianjns.org]

Vermian hypoplasia was present in 36 (88%) cases, while cerebellar hypoplasia was documented in 27 (59%) of these patients. [ncbi.nlm.nih.gov]

Syringomyelia - Syringobulbia

hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum herniation [radiopaedia.org]

Type IV is a form a cerebellar hypoplasia. [hon.ch]

[…] of the occipital lobe through the foramen magnum Chiari 0 malformation syrinx without cerebellar tonsillar or brain stem descent infrequently used and confusing term to be [radiopaedia.org]

Muscular Dystrophy-Dystroglycanopathy Type C7

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. Neurology. 2009;73:1599–601. PubMed CrossRef Google Scholar 74. [doi.org]

hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome [se-atlas.de]

hypoplasia syndrome Enlarged parietal foramina Epilepsy-microcephaly-skeletal dysplasia syndrome Epiphysiolysis of the hip Exostoses-anetodermia-brachydactyly type E syndrome [se-atlas.de]

Dysequilibrium Syndrome

From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar [en.wikipedia.org]

cerebellar ataxia associated with cerebellar hypoplasia. [ncbi.nlm.nih.gov]

An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification [ncbi.nlm.nih.gov]

Congenital Merosin-Positive Muscular Dystrophy

The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months. [ncbi.nlm.nih.gov]

hypoplasia With mental retardation and cerebellar cysts Normal Normal Normal Cerebellar hypoplasia Cerebellar cysts 1q-42 Merosin positive CMD Typical form + Mental retardation [mrineonatalbrain.com]

[…] atrophy – severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements and [mobilephysiotherapyclinic.in]

Arnold-Chiari Malformation Type 2

Type IV is a form a cerebellar hypoplasia. [hon.ch]

Lissencephaly

A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia. [ncbi.nlm.nih.gov]

A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24, 43–46 ( 1993). 15 DeSilva, U. et al. [doi.org]

We report on 2 families with diffuse pachygyria and cerebellar hypoplasia, who presented hypotonia, ataxia, seizures, and developmental delay since infancy. [candicelange.com]

Amish Lethal Microcephaly

hypoplasia Irritability Partial agenesis of the corpus callosum IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters [ncbi.nlm.nih.gov]

hypoplasia. [jhu.pure.elsevier.com]

[…] system Hepatomegaly Abnormality of the musculoskeletal system Axial hypotonia Flexion contracture Micrognathia Progressive microcephaly Abnormality of the nervous system Cerebellar [ncbi.nlm.nih.gov]

Bonnemann-Meinecke-Reich Syndrome

HYPOPLASIA; MICPCH Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe [mendelian.co]

[…] abscess, Cerebellar ataxia, Cerebellar cortex atrophy, Cerebellar degeneration, Cerebellar haemorrhage, Cerebellar heredoataxia, Cerebellar hypoplasia, Cerebellar infarct [wikidoc.org]

[…] pure Cerebellar degeneration, subacute Cerebellar hypoplasia endosteal sclerosis Cerebellar hypoplasia tapetoretinal degeneration Cerebellar parenchymal degeneration Cerebelloolivary [en.wikipedia.org]

Aprosencephaly and Cerebellar Dysgenesis

This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human). [en.wikipedia.org]

hypoplasia. [link.springer.com]

Hypoplasia And Distinctivefacial Appearance Microcephaly, Autosomal Dominant Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy Midline Malformations [familydiagnosis.com]

Autosomal Recessive Spinocerebellar Ataxia 18

Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ). [ajnr.org]

Hypoplasia AR 100 5 of 5 CEP55 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly, Meckel Syndrome AR 99.22 3 of 3 CFL2 Nemaline [igenomix.es]

QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR [neuromab.ucdavis.edu]

Adult-Onset Autosomal Recessive Cerebellar Ataxia

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2, Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital, Cpd 3 Annotation Sufficiency: ? [monarchinitiative.org]

Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ). [ajnr.org]

Congenital ataxias are due to cerebellar hypoplasia or aplasia. [jpgmonline.com]

Severe Neonatal-Onset Encephalopathy with Microcephaly

Norman RM (1961) Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch Dis Child 36:96–101 Google Scholar 19. [link.springer.com]

Cerebellar involvement with global cerebellar hypoplasia is inconsistently present and non-specific. [cerebellumandataxias.biomedcentral.com]

TORCH Syndrome

[…] corpus callosum and callosal lipomas, dysplasia of the brainstem, and cerebellar hypoplasia or dysgenesis. [go.gale.com]

[…] callosum and callosal lipomas, dysplasia of the brainstem, and cerebellar hypoplasia or dysgenesis. [asianjns.org]

Dandy–Walker malformation (DWM), in addition to posterior fossa large cyst, cerebellar vermis hypoplasia, and hydrocephalus is often associated with agenesis of the [go.gale.com]

Arnold-Chiari Malformation

Type IV is a form a cerebellar hypoplasia. [hon.ch]

[…] structures Hydrocephalus in 50% of cases due to obstruction Chiari IV (very rare) Primary cerebellar hypoplasia or agenesis Epidemiology Prevalence True incidence is estimated [unboundmedicine.com]

hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum herniation [radiopaedia.org]

Nivelon-Nivelon-Mabille Syndrome

hypoplasia. [genome.jp]

A severe form of congenital dwarfism, general chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, hypoplastic iris, and coloboma of the optic disc. [accessanesthesiology.mhmedical.com]

Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar [ncbi.nlm.nih.gov]

Autosomal Recessive Primary Microcephaly Type 10

hypoplasia Neuronal loss in central nervous system Hypoplasia of the brainstem Congenital contracture Hypoplasia of the pons Infantile encephalopathy Loss of Purkinje cells [mendelian.co]

Patients with PCH5 ( OMIM ) have cerebellar hypoplasia apparent in the second trimester and show seizures. [mendelian.co]

hypoplasia-cardiac conduction defect syndrome 4 Cases 2522 Microcephaly-cervical spine fusion anomalies syndrome 2 Cases 2521 Microcephaly-cleft palate syndrome 3 Cases 423894 [azkurs.org]

Myelocerebellar Disorder

[…] severe variant of DC, with the additional manifestations of cerebellar hypoplasia, microcephaly, and psychomotor retardation.4, 5, 6 Most patients with DC have very short [hiv-proteases.com]

hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with [se-atlas.de]

Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and [mendelian.co]

Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

Related phenotypes are hyperreflexia and cerebellar hypoplasia [malacards.org]

Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. [mendelian.co]

[…] ataxia, nonprogressive, with mental retardation Cerebellar ataxia, SNX14 related Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion Cerebral [qlinics.com]

Congenital Aplastic Anemia

[…] growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. [wikidata.org]

(Also known as/Synonyms) Cerebellar Hypoplasia with Pancytopenia Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia HHS (Hoyeraal-Hreidarsson [dovemed.com]

Patients with HHS typically present in early childhood with cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth retardation. [en.wikipedia.org]

Postaxial Oligodactyly, Tetramelic

Accessory spleen Intestinal atresia Ectopia pupillae Renal hypoplasia Sex reversal Duodenal atresia Sclerocornea Stillbirth Optic nerve hypoplasia Cerebellar vermis hypoplasia [mendelian.co]

[…] pure * Cerebellar degeneration * Cerebellar degeneration, subacute * Cerebellar hypoplasia * Cerebellar hypoplasia tapetoretinal degeneration * Cerebellar hypoplasia with [medicalgeek.com]

hypoplasia Dilatation Microcephaly Global developmental delay Postnatal growth retardation Vesicoureteral reflux Hyperextensible skin Spina bifida Spina bifida occulta Thin [mendelian.co]

Prata-Libéral-Gonçalves Syndrome

hypoplasia 49XXXXY syndrome X-linked with aplasia cutis congenita progressive pancytopenia and Charcot-Marie-Tooth per oneal cerebellar hypoplasia Prenatal muscular atrophy [yumpu.com]

Popliteal pterygium syndrome Popliteal pterygium syndrome lethal type Porencephaly cerebellar hypoplasia malformations Porokeratosis plantaris palmaris et disseminata Porokeratosis [mindmappedia.com]

Popliteal pterygium syndrome lethal type Popliteal pterygium syndrome Porencephaly cerebellar hypoplasia malformations Porencephaly Porokeratosis of Mibelli Porokeratosis [bioreference.net]

Mega-Cisterna Magna

For comparison with cerebellar vermis hypoplasia that picture is also given in the end.( this was posted last week in this blog ) The absent vermis and the communication is [kriznanultrasoundimages.com]

[…] magna is closely related to cerebellar hypoplasia. [fetalultrasound.com]

Vermian-cerebellar hypoplasia is a general classification that describes congenital malformations with a normal-sized posterior fossa, varying degrees of vermian and cerebellar [pubs.rsna.org]

Congenital Disorder of Glycosylation Type 1I

Compared with type I patients they have a more severe psychomotor retardation but no peripheral neuropathy nor cerebellar hypoplasia. [adc.bmj.com]

[…] hypotrophy/hypoplasia. [books.google.it]

The diagnosis should be considered in all patients with failure to thrive, mental retardation, cerebellar hypoplasia, liver dysfunction, or stroke-like episodes. [egl-eurofins.com]

Cerebellotrigeminal Dermal Dysplasia

MRI of the brain (Figure 3) revealed rhombencephalosynapsis (absent cerebellar vermis with apparent fusion of cerebellar hemispheres) and cerebellar hypoplasia. [ncbi.nlm.nih.gov]

Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common. [ncbi.nlm.nih.gov]

Cerebellar hypoplasia in childhood 410 Table 15. Unilateral cerebellar hypoplasia 412 Table 16. [mackeith.co.uk]

Congenital Non-Progressive Ataxia

Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. [ncbi.nlm.nih.gov]

Pure CA can be due to cerebellar malformations as (hereditary or non-hereditary) cerebellar hypoplasia, Dandy Walker syndrome, or occasionally supratentorial abnormalities [pubmed.ncbi.nlm.nih.gov]

In many cases, neuroimaging studies (CT scan, MRI) show cerebellar hypoplasia or atrophy, especially of the vermis, with occasional white matter changes, and diffuse atrophy [orpha.net]