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Monday, 06 January 2025

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Assuming diagnosis is required, the following 111 results were found.

  1. Lennox-Gastaut Syndrome (LGS)https://cnke.org/articles/50

    by recurrent tonic and absence seizures. In 1989, the International League Against Epilepsy (ILAE) issued a more precise diagnosis of Lennox-Gastaut Syndrome (LGS). The illness is categorized as an epileptic encephalopathy, which means that the...

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

  2. Neurofibromatosishttps://cnke.org/articles/283

    nerve sheath tumors (MPNSTs). Risk of Malignancy: Higher compared to the general population, driven by MPNST. Cancer Diagnosis: Occurs at a younger age in NF1 individuals. Peripheral Neurofibromas: Description: Benign peripheral nerve sheath tumors...

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  3. The Diagnosis of Rett Syndromehttps://cnke.org/articles/154

    The Diagnosis of Rett Syndrome (RTT) Introduction Definition: Rett Syndrome (RTT) is a rare neurodevelopmental disorder, primarily affecting females, characterized by developmental regression, loss of acquired skills, and stereotypic hand movements....

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  4. Charcot–Marie–Tooth disease (CMT)https://cnke.org/articles/214

    sequencing: Whole-exome and whole-genome sequencing. Disease-specific gene panels. Impact: Improved classification and diagnosis. Identification of significant phenotypic and genotypic overlaps between CMT types. Traditional Classification CMT1...

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

  5. Ion channel disordershttps://cnke.org/articles/231

    from Myotonic Dystrophy: No systemic features like cataracts, cardiac abnormalities, or multisystem involvement. Diagnosis Electromyography (EMG): Confirms myotonia with repetitive discharges during muscle insertion or voluntary contraction. Genetic...

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

  6. Investigations in Movement Disordershttps://cnke.org/articles/354

    may be available but not normally indicated. 2 Gene localized to centromere of chromosome 16 but not helpful in individual diagnosis Chronic or progressive movement disorder Type of movement disorder Condition Investigation Mixed movement disorder...

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  7. Mucopolysaccharidoses (MPS)https://cnke.org/articles/468

    findings, normal intellect. Complications: Corneal clouding, carpal tunnel syndrome, hydrocephalus, cervical instability. Diagnosis: Elevated urinary mucopolysaccharides, enzyme activity assays, genetic testing. Radiographs for dysostosis multiplex....

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  8. Congenital Myopathieshttps://cnke.org/articles/218

    myopathic pattern. Differentiation from Other Disorders No histopathological evidence of muscular dystrophy. Differential diagnosis includes: Prader-Willi syndrome. Neurometabolic disorders. Non-neuromuscular causes of neonatal hypotonia. Diagnostic...

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

  9. Ataxias: Differential Diagnosishttps://cnke.org/articles/185

    Acute Ataxias Vascular Disorders Cerebellar Ischemia: Reduced blood flow to the cerebellum leading to infarction. Cerebellar Hemorrhage: Bleeding within the cerebellum, often associated with hypertension or anticoagulation therapy. Medications and...

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  10. Migrainehttps://cnke.org/articles/37

    present with coma, fever, and meningismus. Treatment may include acetazolamide or calcium channel blockers. Differential diagnosis should consider structural lesions, vasculitis, cerebral hemorrhage, brain tumor, mitochondrial myopathy, encephalopathy,...

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

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

    In an infant under 1 year, with a family history, the occurrence of long and repeated FS leads one to suspect the diagnosis of SME, mainly when the triggering fever is not high. However, it cannot be confirmed until other seizure types and myoclonic...

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    • Author: Editor
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  12. Kleine–Levin syndromehttps://cnke.org/articles/43

    of menarche in girls. EEG findings that are sometimes compatible with hypothalamic dysfunction (Arnulf et al., 2015). Diagnosis Diagnosis of KLS involves a thorough neuropsychiatric assessment. If the history and symptoms are typical, no further work-up...

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

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

    In an infant under 1 year, with a family history, the occurrence of long and repeated FS leads one to suspect the diagnosis of SME, mainly when the triggering fever is not high. However, it cannot be confirmed until other seizure types and myoclonic...

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    • Author: Editor
    • Category: Home

  14. ADCY5 Dyskinesiahttps://cnke.org/articles/213

    noted. Imaging: Brain MRI/CT: Normal. Neuropathology: Normal gross pathology; tau deposits in some brain regions reported. Diagnosis Criteria: Hyperkinetic movement disorder. Absence of structural brain abnormalities. No consensus diagnostic guidelines...

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

  15. Myotonic Dystrophyhttps://cnke.org/articles/229

    80% of cases, often requiring ventilatory support. Feeding difficulties, commonly necessitating gavage feeding. Diagnosis: Differential Diagnosis: Can be confused with congenital myopathies or muscular dystrophies. Facial weakness distribution and...

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

  16. Investigations in Lysosomal Disordershttps://cnke.org/articles/467

    sediment or conducting sural nerve biopsies based on partial ARSA deficiency. Recommendation: Avoid pursuing an MLD diagnosis based solely on partial enzyme deficiency without appropriate clinical indications. 5. Activator Protein Deficiency and Its...

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  17. Pantothenate Kinase-Associated Neurodegeneration (PKAN)https://cnke.org/articles/46

    pigmentary retinopathy, and other eye signs (Egan et al., 2005). Acanthocytes may be present in the blood film. Diagnosis is typically suggested by characteristic MRI findings and confirmed through genetic testing. Juvenile Form: Less common and often...

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

  18. Infantile Spasms Syndromehttps://cnke.org/articles/269

    delays United Kingdom Infantile Spasms Study (UKISS) [2010]: Among 127 of 207 patients with proven etiological diagnosis: 10% had hypoxic-ischemic encephalopathy 8% had chromosomal abnormalities, complex malformation syndromes, or perinatal stroke 7%...

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

    skewing. Common symptoms: Neuropathic pain (43–77%), LVH (18–26%), cerebrovascular disease (4–25%), proteinuria (35–39%). Diagnosis Enzyme assay: Deficient alpha-galactosidase activity (not reliable in females). Genetic testing: Confirms diagnosis,...

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    • Author: Editor
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  20. Incontinentia Pigmentihttps://cnke.org/articles/475

    50% risk of transmitting pathogenic variants. Male lethality: Rarely survive due to somatic mosaicism or 47,XXY karyotype. Diagnosis Clinical Diagnosis: Presence of one major criterion (e.g., skin lesions in characteristic stages). Minor criteria:...

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Results 1 - 20 of 111