cerebellar hypoplasia
Cerebellar Hypoplasia in an Infant With Congenital Cytomegalovirus Infection
... Cerebellar hypoplasia is a prominent feature of fetal brain pathology as produced in experimental animal models with various congenital viral infec-.. tions.’-’.[r] ...
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A Syndrome Involving Intrauterine Growth Retardation, Microcephaly, Cerebellar Hypoplasia, B Lymphocyte Deficiency, and Progressive Pancytopenia
... At 24 months old, the child’s growth retardation was profound: 5.9 kg ( ⫺ 4.5 standard deviation [SD]) for weight and 74 cm ( ⫺ 3.5 SD) for height. She was microcephalic: 40 cm (⫺6 SD) with asso- ciated mental ...
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Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution
... of cerebellar WM tracts is preserved (eg, normal axonal packing, diameter, and myelination) and that a malformed cere- bellum does not cause a secondary alteration of the connecting WM tracts (at least detectable ...
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Terminology in morphological anomalies of the cerebellum does matter
... between cerebellar atrophy and cerebel- lar hypoplasia is not difficult in theory, but can be prob- lematic or impossible in practice based on a single ...non-progressive cerebellar ataxia ...
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Clinical Reasoning: West syndrome, pontocerebellar hypoplasia, and hypomyelination in a 6-month-old boy
... MRI in this child demonstrated hypomyelination, and hypo- plasia of brainstem and cerebellum (figure, A–C). EEG showed hypsarrhythmia with episodes of attenuation (figure, D). Metabolic testing including serum ammonia, ...
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Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations
... We suggest that the presence of cerebellar hypoplasia on MR studies, when seen in association with cortical dysplasia or lissencephaly, myelination delay, and diminished white matter, sh[r] ...
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The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a
... the cerebellar cortex and subcortical white matter were hyperintense on T2-weighted and FLAIR images in ...of cerebellar hypoplasia and atrophy. Cerebellar volume loss with diffuse T2/FLAIR ...
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UNERTAN SYNDROME: A CASE SERIES DEMONSTRTAING HUMAN DEVOLUTION
... a cerebellar hypoplasia, especially involving the vermis, as evidenced by MRI and PET scans of the affected individuals in the first family, whereas these structures appear to be normal in the second ...
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A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation
... Mutations in the X-linked (XLID) gene CASK are asso- ciated with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH; OMIM# 300749). This etiology disproportionately affects ...
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Predominant Cerebellar Volume Loss as a Neuroradiologic Feature of Pediatric Respiratory Chain Defects
... included cerebellar and cerebral atrophy, cerebellar hypoplasia, brain stem, and basal ganglia lesions, infarct-like bilateral parasagittal le- sions, agenesis of the corpus callosum, and ...
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Original Article The characteristics of fetal central nervous system abnormalities in prenatal magnetic resonance imaging and ultrasonography and their relationship with chromosomal disorders
... Figure 1. Examples of fetal cerebral abnormalities detected by ultrasonography and magnetic resonance imaging (MRI). (A, B) Hydrocephalus detected by ultrasonography (A) and MRI (B). The ultrasonography and T2WI showed ...
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Original Article Magnetic resonance imaging and clinical findings of pseudotumor-type cerebellar infarction
... with cerebellar infarcts presented with non-specific symptoms, including dizziness, nausea, vomiting, unsteady gait, and ...major cerebellar perfusion ter- ritories. Posterior inferior cerebellar ...
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The vascular territories in the cerebellum and brainstem: CT and MR study
... PICA posterior inferior cerebellar artery; AICA = anterior inferior cerebellar artery; SCA = superior cerebellar artery; WSCA = watershed area in deep white matter mostly supplied by SCA[r] ...
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Large-scale analysis of acute ethanol exposure in zebrafish development: a critical time window and resilience
... Eye development was found to be sensitive to ethanol exposure at all developmental stages, and the results were significant (see, Figure 8), with the largest incidence of eye abnormalities scored during the prim-16 ...
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CONGENITAL HYPOPLASIA OF THE ADRENAL GLANDS
... Studies of anencephalic monsters have suggested that hypoplasia of the fetal adrenal cortex is a consequence of tile underdeveloped pituitary. A corn- parable thesis may explain the adre[r] ...
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Volumetric evaluation of hemicerebellar changes in migraine patients without aura
... Total cerebellar and hemicerebellar volumes com- puted from each image were measured three times by three observers using a stereological method. All measurements were performed blinded to subject details and ...
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Mechanisms of human cerebellar dysmetria: experimental evidence and current conceptual bases
... in cerebellar patients and dysme- tria are due to a malfunction in the predictive feedforward control and/or to a disorder in the accurate appraisal of the consequences of motor ...
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The cerebellum and motor learning: Anatomical and behavioural studies of the conditioned eyeblink
... prevent acquisition (see Chapter 1). These findings are consistent with the suggestion that acquisition learning is critically dependent upon cerebellar or pre-cerebellar plasticity and that state-dependent ...
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Guidelines for treatment of immune-mediated cerebellar ataxias
... Suspicion of IMCA is the first step towards early diagno- sis. There is no clear cut clinical characteristics that enable the diagnosis of IMCAs. On imaging, vermian involvement seems more prevalent in IMCAs by ...
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Cerebellar degeneration in harlequin mice is associated with inflammation unaltered by low-dose phenobarbital treatment
... The anterior-posterior patterning of granule and Purkinje cell loss is not restricted to hq mice but has also been seen in other mouse models of cerebellar degeneration. Leaner mutant mice display massive granule ...
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