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Tuesday, 07 January 2025

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Assuming clinical is required, the following 157 results were found.

  1. Trigeminal autonomic cephalalgias https://cnke.org/articles/41

    due to the intense pain. There are episodic and chronic forms, and a familial predisposition is noted. Diagnosis is clinical but should be confirmed with a head CT or MRI to exclude underlying brain lesions. Differential diagnosis includes other TACs...

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

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

    (INAD), atypical neuroaxonal dystrophy (NAD), and PLA2G6-related dystonia-parkinsonism (Kurian and Hayflick, 2013). Clinical Presentation Classic Infantile Neuroaxonal Dystrophy (INAD): Onset typically occurs between 14 and 18 months of age. Affected...

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

  3. Juvenile Myoclonic Epilepsyhttps://cnke.org/articles/49

    presence of absence seizures (20-40%), myoclonic seizures (100%), and generalized tonic-clonic (GTC) seizures (85-90%). Clinical Features Myoclonic Seizures: Defining feature of JME, required for diagnosis. These seizures are short, bilateral jerking...

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

  4. Gilles De La Tourette Syndromehttps://cnke.org/articles/260

    volume, especially the striatum. Likely involvement of dopamine transmission due to genetic and pharmacological evidence. Clinical Features Diagnostic Criteria: Multiple motor tics and one or more vocal tics present at some time during the illness,...

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    • Author: Editor
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  5. 5,10-methenyltetrahydrofolate synthetase deficiencyhttps://cnke.org/articles/261

    Disorders with Similar Symptoms Other neurodevelopmental disorders can present with similar signs and symptoms. Diagnosis Clinical Suspicion: Based on symptoms such as failure to thrive, developmental delay, and microcephaly. Imaging: MRI shows cerebral...

    • Type: Article
    • Author: Editor
    • Category: Home

  6. Epilepsy of infancy with migrating focal seizureshttps://cnke.org/articles/264

    cognitive and behavioral impairments. Suppression of epileptic activity might minimize these additional impairments. Clinical Context Typical onset: first six months of life (mean 3 months). Prevalence:

    • Type: Article
    • Author: Editor
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  7. Early myoclonic encephalopathyhttps://cnke.org/articles/267

    Early exclusion of treatable metabolic etiologies (especially pyridoxine and pyridoxal-5-phosphate disorders) is crucial. Clinical Context Onset of seizures typically occurs within the first two months of life. More than half of the cases have seizure...

    • Type: Article
    • Author: Editor
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  8. Benign Familial Infantile Seizureshttps://cnke.org/articles/275

    Epidemiology Global Reports: BFIE cases have been reported worldwide. Prevalence and Incidence: Remain unknown. Clinical Description Age of Onset: Seizures usually occur between 3 to 8 months of life. Seizure Characteristics: Clusters of 8-10 episodes...

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  9. Levetiracetamhttps://cnke.org/articles/278

    Children: Dosing varies based on age and weight. Typically starts at 10 mg/kg twice daily, with adjustments based on clinical response. Side Effects Common: Drowsiness, dizziness, fatigue, headache, irritability. Serious: Behavioral changes (aggression,...

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    • Author: Editor
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  10. Fenfluraminehttps://cnke.org/articles/280

    Dosage Dravet Syndrome: Starting dose: 0.1 mg/kg twice daily. Maintenance dose: Up to 0.35 mg/kg twice daily, based on clinical response and tolerability. Side Effects Common: Decreased appetite, fatigue, diarrhea, drowsiness, weight loss. Serious:...

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    • Author: Editor
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  11. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    are critical to preventing irreversible damage and ensuring optimal outcomes. This guide emphasizes the importance of clinical suspicion, appropriate investigations, and prompt therapeutic intervention.

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

    Do pipecolic acid also in plasma Pyridoxine-dependent epilepsy (PDE) due to α-AASA-dehydrogenase deficiency (see also Clinical Vignette 2.16.1) Acylcamitines (plasma more useful) Acute metabolic encephalopathy (plasma better) Excretion ↑↑ by carnitine...

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  13. Wilder Graves Penfieldhttps://cnke.org/articles/296

    of the Mind" (1975) "Speech and Brain Mechanisms" (1959), co-authored with Lamar Roberts "The Cerebral Cortex of Man: A Clinical Study of Localization of Function" (1950), co-authored with Theodore Rasmussen Conclusion Wilder Penfield's pioneering work...

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    • Author: Editor
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  14. CNS Degenerative Disorders in Infancyhttps://cnke.org/articles/314

    Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Somatic Findings Motor Findings Seizures Labs Clinical Course White matter Globoid (Krabbe) leukodystrophy Recessive galactocerebroside β-galactosidase deficiency. Chromosome...

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    • Author: Editor
    • Category: Home

  15. Needs Updatehttps://cnke.org/article-flags/needs-update

    guidelines, diagnostic tools, or technological innovations related to the topic. Revised Guidelines: Check for updates to clinical practice guidelines, consensus statements, or policies from relevant organizations. Emerging Trends: Highlight shifts in...

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

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

    limitans into the dorsal alar and roof plates, and the ventral basal and floor plates. (Adapted from Ten Donkelaar, et al. Clinical Neuroembryology, 2nd edition, Springer 2014.) Small nodule at the rostral end of the neural plate. Directs development of...

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  17. Investigations in Neonatal Seizureshttps://cnke.org/articles/464

    laboratory. Seizures (of presumed epileptic mechanism) Initial investigations by a neonatologist will depend upon the clinical scenario. Cranial ultrasound will detect gross structural lesions. MRI will detect more, including the acute cerebral...

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    • Author: Editor
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  18. Mucolipidoses and Oligosaccharidoseshttps://cnke.org/articles/469

    Protein: α-N-acetylgalactosaminidase Features: Intellectual disability, seizures, angiokeratomas. Key Points Diagnosis: Clinical suspicion based on phenotype, confirmed via genetic testing and enzyme analysis. Management: Supportive care (e.g., physical...

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    • Author: Editor
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  19. Gaucher Diseasehttps://cnke.org/articles/471

    deficient glucocerebrosidase activity. Characterized by toxic accumulation of glucocerebroside lipids in multiple organs. Clinical Manifestations Hepatosplenomegaly: Enlarged liver and spleen. Hematologic: Pancytopenia (anemia, thrombocytopenia,...

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    • Author: Editor
    • Category: Home

  20. Fabry Diseasehttps://cnke.org/articles/472

    ischemia, and infarction in major and microvascular systems. Progressive renal, cardiac, and cerebrovascular damage. Clinical Presentation Classic Male Presentation: Onset: 5–10 years. Neuropathic pain (acroparesthesias): Burning/tingling pain in hands...

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    • Category: Home
Results 121 - 140 of 157