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Monday, 06 January 2025

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Editor

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Assuming cerebellar is required, the following 32 results were found.

  1. Dravet syndromehttps://cnke.org/articles/180

    show any abnormalities particularly malformations. somtimes signs of slight or moderate, diffuse, cerebral atrophy, cerebellar atrophy or increased white matter signal (T2 weight) can be seen in some cases, neuroimaging may be normal at the onset with...

    • Type: Article
    • Author: Editor
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  2. Migrainehttps://cnke.org/articles/37

    lasting from hours to days. The headache is usually contralateral to the hemiparesis. Some cases are associated with cerebellar ataxia, and severe forms may present with coma, fever, and meningismus. Treatment may include acetazolamide or calcium...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  3. PLA2G6-Associated Neurodegenerationhttps://cnke.org/articles/47

    et al., 2009). Initial good response to L-dopa may be followed by disabling dyskinesias. Neuroimaging Findings Cerebellar Atrophy: Most common neuroimaging finding in both INAD and atypical NAD. Present in most patients early in the disease and in...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  4. Beta-propeller protein-associated neurodegeneration (BPAN)https://cnke.org/articles/48

    on T2-weighted images and a hyperintense “halo” on T1-weighted images . Additional findings include cerebral atrophy, cerebellar atrophy, delayed myelination, thin corpus callosum, and dilated ventricles. MRI findings in BPAN Pathophysiology BPAN is...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  5. Dravet syndromehttps://cnke.org/articles/265

    show any abnormalities particularly malformations. somtimes signs of slight or moderate, diffuse, cerebral atrophy, cerebellar atrophy or increased white matter signal (T2 weight) can be seen in some cases, neuroimaging may be normal at the onset with...

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    • Author: Editor
    • Category: Home

  6. Investigations - Urine Biochemistryhttps://cnke.org/articles/291

    creatine peak desirable ↑ in GAMT deficiency. ↓1 in AGAT deficiency VMA (HMMA). HVA (catecholamines) Acute or subacute cerebellar ataxia/myoc onus/opsoclonus Special diet no longer usually indicated; 24-h urine preferred (whole body imaging more...

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    • Author: Editor
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  7. CNS Degenerative Disorders of Childhoodhttps://cnke.org/articles/315

    Abnormal accumulation of cholesterol Late childhood to adolescence Xanthomas Mental deterioration Cataracts Xanthelasma Cerebellar defects Bulbar paralysis Myoclonus Xanthomas in lungs and tendons Slowly progressive into middle life. Replace deficient...

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  8. Neural tube developmenthttps://cnke.org/articles/356

    products. Note position of the isthmic organiser (IsO) at the mesencephalic-rhombencephalic junction, the location of the cerebellar anlage. Identified Locations: Anterior neural ridge (rostral edge of the neural plate). Zona limitans interthalamica...

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  9. Cerebrotendinous Xanthomatosis (CTX)https://cnke.org/articles/146

    bile alcohols in blood/urine. Normal/low plasma cholesterol. Neuroimaging: Brain MRI: White matter hyperintensities, cerebellar atrophy, dentate nuclei hyperintensity. Genetic testing: CYP27A1 mutation confirmation. Electrophysiology: Abnormal sensory,...

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  10. Dysarthria: Clinical featureshttps://cnke.org/articles/205

    abnormalities of the cerebellum Posterior fossa resections Syndromic examples (e.g., Joubert syndrome) Post-acquired cerebellar disorders Source: Aicardi, J., Bax, M., Ogier, H., Polani, P., & Vizioli, R. (Eds.). (2018). Aicardi's Diseases of the...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  11. Congenital Muscular Dystrophyhttps://cnke.org/articles/224

    developmental delay Seizures Cardiomyopathy Brain Anomalies: Occipital pachygyria and polymicrogyria Pontine hypoplasia Cerebellar abnormalities Genetic Cause: Mutations in the FKTN gene. Rare milder phenotypes are also associated with FKTN mutations....

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  12. Developmental Dysarthria in Syndromic Conditionshttps://cnke.org/articles/245

    Conditions Causes: Often linked to structural brain anomalies such as perisylvian or perirolandic polymicrogyria, cerebellar anomalies, Joubert syndrome, and brainstem dysgenesis. Differential Diagnosis: Childhood apraxia of speech and conditions like...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
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