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Cerebellar Hypoplasia and Atrophy

Cerebellar Atrophy


  • […] downregulation of EXOSC8 in human oligodendroglia cells and in zebrafish induce a specific increase in ARE mRNAs encoding myelin proteins, showing that the imbalanced supply of myelin proteins causes the disruption of myelin, and explaining the clinical presentation[rd-connect.eu]
  • The ears are large and low-set and facial dysmorphism (full cheeks, long philtrum) is present. Infants have poor head control and truncal ataxia. Later, hyperreflexia and spasticity become evident. Seizures are common.[disorders.eyes.arizona.edu]
  • We report a confirmed case of TSEN 54 mutation associated PCH who presented with epileptic spasms and has overlapping features of multiple subtypes of PCH. A 4-month-old girl presented with complaints of seizure-like activity.[annalsofian.org]
  • Only 3 families with PCH type 3 have been so far identified The affected child presents with cerebellar signs such as incoordination, nystagmus, and ataxia.[xpertdox.com]
  • Previous presentation: This study was presented as a poster with a short oral communication at the 25 Congreso de Neonatología y Medicina Perinatal, May 20–22, 2015; Seville, Spain. Copyright 2016. Asociación Española de Pediatría[analesdepediatria.org]
  • , general pathologists, neurologists, and geneticists in deciphering the pathology and pathogenesis of these complex disorders affecting the nervous system of the embryo, fetus, and child.[books.google.de]
  • […] skin Muscle stiffness Premature graying of hair Macular dystrophy Hypopigmentation of hair Tremor Abnormality of the optic nerve Subcortical cerebral atrophy Abnormality of the cerebellar vermis Cerebral cortical hemiatrophy Aplasia/Hypoplasia of the macula[mendelian.co]
Muscle Contracture
  • contractures , brief involuntary muscle twitching , brief episodes without breathing , and early death following birth PCH5 610204 TSEN54 17q25.1 Severe prenatal form, described in one family Olivopontocerebellar hypoplasia (OPCH) PCH6 611523 RARS2 6q15[ipfs.io]
Flexion Contracture
  • contracture SOURCES: NCIT UMLS MONDO OMIM More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 High match OPTIC ATROPHY 11; OPA11 OPA11 is an autosomal recessive disorder characterized by[mendelian.co]
Hearing Impairment
  • impairment Macrocephaly Dilatation Abnormality of movement Muscular hypotonia Oxycephaly Progressive Open mouth Atrophy/Degeneration affecting the brainstem Tapered finger Retrognathia Upper airway obstruction Increased CSF lactate Global brain atrophy[mendelian.co]
  • There was no vision or hearing impairment. The family history was unremarkable. Examination revealed an undernourished, alert infant. Her head circumference was normal.[pediatricneurosciences.com]
Round Face
  • Note minor facial dysmorphism: round face, small chin, well-drawn eyebrows in the younger patients; longer face, high and large nasal bridge, long nose, protuding maxilla , in the older patients.[ipfs.io]
Narrow Forehead
  • forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings.[mendelian.co]


  • Treatment Treatment Options: No treatment is available for the general disorder. References Article Title: Loss of PCLO function underlies pontocerebellar hypoplasia type III.[disorders.eyes.arizona.edu]
  • He began diagnosing and treatment of mitochondrial disease during residency and has continued studying this disorder during his career at Seattle Children’s Hospital over the past 15 years.[books.google.de]
  • In some cases, there is no cure but treatment may help with symptoms. NIH: National Institute of Neurological Disorders and Stroke[medlineplus.gov]
  • Treatment depends upon the underlying disorder and the severity of symptoms.[en.wikipedia.org]


  • Prognosis [ edit ] The prognosis of this developmental disorder is highly based on the underlying disorder. Cerebellar hypoplasia may be progressive or static in nature.[en.wikipedia.org]
  • Moreover, early recognition and management of seizures may help improve the overall clinical outcome, although unlikely to have an impact on long term prognosis.[medcraveonline.com]
  • Having ruled out symptomatic causes that may be treatable, the diagnosis of hereditary ataxia is important for prognosis, genetic counseling, and possible therapeutic interventions.[pediatricneurologybriefs.com]
  • The prognosis is highly uncertain, and symptomatic treatment and support measures are the only options currently available.[analesdepediatria.org]


  • Etiology Diffuse atrophy can result from a variety of causes: normal aging alcoholic cerebellar degeneration drugs, e.g. phenytoin cerebellar degeneration chronic temporal lobe epilepsy (independently from phenytoin use) 7 cerebellitis multisystem atrophy[radiopaedia.org]
  • The etiology of cerebellar hypoplasia is not definitely known. Pathologic evidence of cerebellar injury due to birth asphyxia has been described.[advancedradteaching.com]
  • Available from: A group of single gene disorders, among diverse range of etiologies, can cause pontocerebellar hypoplasia (PCH). [1] There are several subtypes of PCH, and the correct molecular identification of the type is important for counseling and[annalsofian.org]
  • Abstract Background: Cerebellar hypoplasia (CH) is a rare malformation caused by various etiologies, usually manifesting clinically as nonprogressive cerebellar ataxia with or without mental retardation.[karger.com]
  • It is important to recognize PCH type 1 as a possible underlying etiology for Ottahara syndrome, also, the presence of Ottahara syndrome should help distinguish PCH type 1 from other types of spinal muscular atrophy.[medcraveonline.com]


  • Further investigation of the genotype-phenotype correlation of mutations may contribute to our understanding of pathophysiologic mechanism in these rare conditions. 1. Poretti A, Boltshauser E, Doherty D.[annalsofian.org]
  • The neuropathology, pathophysiology and genetics of multiple system atrophy. Neuropathol Appl Neurobiol. 2012;38:4-24. PubMed Koeppen AH, Mazurkievicz JE. Friedreich Ataxia: Neuropathology Revised. J Neuropathol Exp Neurol 2013;72(2):78-90.[neuropathology-web.org]


  • The result, said Gleeson, is an imbalance in the cell’s energy source, which prevents protein synthesis and causes neurodegeneration.[neurosciencenews.com]
  • Complementary genetic information with consistent clinical and neuroimaging finding may not only help with prognostication related to survival, but also provide guidance regarding treatment such as preventive strategies for sleep apnea, fever induced[annalsofian.org]

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