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Wednesday, 08 January 2025

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Editor

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Assuming rare is required, and disorder is required, the following 84 results were found.

  1. Zika Virus Infectionhttps://cnke.org/articles/353

    Zika virus is a mosquito-borne flavivirus primarily transmitted by Aedes aegypti mosquitoes (Hayes, 2009; CDC, 2016 ) and to a lesser extent by Aedes albopictus mosquitoes. Aedes aegypti and Aedes albopictus mosquitoes, found throughout much of the...

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

  2. Mucolipidoses and Oligosaccharidoseshttps://cnke.org/articles/469

    Overview Definition: Rare lysosomal storage disorders involving the accumulation of complex carbohydrates or lipids. Shared Features with MPS Disorders: Developmental delay. Organomegaly. Dysostosis multiplex. Progressive Conditions: All are...

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

  3. William M Landau [1924-2017]https://cnke.org/articles/172

    With Frank Kleffner, PhD, of the Central Institute of the Deaf, he identified and described Landau-Kleffner syndrome, a rare disorder in which children lose the ability to speak and respond to language. He also studied how patients fared who were...

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

  4. Narcolepsy-Cataplexyhttps://cnke.org/articles/241

    Narcolepsy is characterized by episodes of irrepressible sleep occurring during the daytime, often during monotonous activities. These episodes typically last 10–20 minutes and occur against a background of continuous sleepiness in most patients....

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

  5. The First Hemispherectomyhttps://cnke.org/historical-vignettes/142

    The first hemispherectomy for epilepsy, performed by Dr. Kenneth G. McKenzie in 1938, marked a groundbreaking moment in neurosurgery and epilepsy treatment. A Canadian neurosurgeon based at Toronto General Hospital, Dr. McKenzie is celebrated for his...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  6. Vitamin responsive neurological conditionshttps://cnke.org/articles/201

    Vitamin-responsive conditions in child neurology, categorized by the vitamin involved. Vitamin A Vitamin A deficiency: Can cause vision problems, including night blindness and xerophthalmia. Vitamin A toxicity: Can lead to headaches, dizziness, nausea,...

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

  7. Schwartz–Jampel Syndromehttps://cnke.org/articles/237

    Schwartz–Jampel Syndrome (SJS) is a rare autosomal recessive disorder characterized by a combination of musculoskeletal abnormalities and continuous muscle contractions. Clinical Features: Musculoskeletal Features: Chondrodysplasia: Abnormal cartilage...

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

  8. Malignant Hyperthermiahttps://cnke.org/articles/238

    Malignant hyperthermia (MH) is a life-threatening pharmacogenomic disorder triggered by certain anesthetic agents (e.g., halothane) or depolarizing muscle relaxants like succinylcholine. These agents cause uncontrolled calcium release in skeletal...

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

  9. Gaucher Diseasehttps://cnke.org/articles/471

    Overview Most prevalent lysosomal storage disorder. Elevated incidence in Ashkenazi Jews (6% carrier frequency). Autosomal recessive inborn error of metabolism. Caused by mutations in the GBA1 gene, leading to deficient glucocerebrosidase activity....

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

  10. Progressive myoclonus epilepsy https://cnke.org/articles/258

    Introduction Progressive Myoclonus Epilepsy (PME) with onset between late childhood and late adolescence includes several conditions: Neuronal ceroid lipofuscinosis Type I sialidosis Myoclonic epilepsy with ragged red fibers Most common forms of PME in...

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

  11. Benign familial neonatal epilepsyhttps://cnke.org/articles/266

    Benign familial neonatal epilepsy is a rare autosomal dominant epileptic syndrome characterised by frequent brief seizures within the first days of life. Clinical features Seizures mainly occur in full-term normal neonates following a normal pregnancy...

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

  12. Emery-Dreifuss Muscular Dystrophy (EDMD)https://cnke.org/articles/227

    Emery-Dreifuss muscular dystrophy (EDMD) is a rare, genetically diverse muscle disorder characterized by a distinct clinical presentation. It is associated with mutations in several genes, many of which encode proteins of the nuclear envelope. Clinical...

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

  13. West syndromehttps://cnke.org/articles/268

    Overview West syndrome is characterized by the onset of epileptic spasms, typically in the first year of life. Global developmental impairment (with or without regression) is typically seen. Clinical Context Onset of epileptic spasms occurs between 3...

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

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

    Introduction Rare autosomal recessive lipid storage disease. Abnormal cholestanol accumulation in the nervous system and other organ systems. Clinical manifestations: Brain, tendons, eyes, arteries. Spectrum of presentations: Infantile diarrhea,...

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

  15. Inherited Cerebellar Ataxias (ICAs)https://cnke.org/articles/184

    ICAs are a group of rare, complex neurodegenerative diseases primarily affecting the cerebellum Introduction and Overview Definition: ICAs are a group of rare, complex neurodegenerative diseases primarily affecting the cerebellum Additional...

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

  16. Limb-Girdle Muscular Dystrophieshttps://cnke.org/articles/228

    LGMDs represent a heterogeneous group of inherited disorders primarily affecting the pelvic and shoulder girdle muscles, leading to muscle weakness and wasting. These conditions exhibit dystrophic muscle histology, characterized by: Ongoing...

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

  17. Aicardi-Goutières syndromehttps://cnke.org/articles/175

    Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy characterized by the inappropriate induction of a type I interferon-mediated immune response and usually results in severe cognitive and physical morbidities. It is named after Jean Aicardi...

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

  18. Rett Syndrome : Clinical Geneticshttps://cnke.org/articles/155

    History of Genetics in Rett Syndrome Early Theories: X-linked dominant, male-lethal (XDML) inheritance model. Differences in severity linked to X-chromosome inactivation (XCI). Key Genetic Discoveries: MECP2 mutations identified as the usual cause of...

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

  19. Papillodemahttps://cnke.org/articles/179

    Definition and Overview Papilloedema: Optic disc swelling due to raised intracranial pressure (ICP). Not a disease but a sign of underlying pathology. Bilateral in most cases; unilateral presentation is rare. Etiology Increased Intracranial Pressure...

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

  20. Congenital Fibre-Type Disproportion (CFTD)https://cnke.org/articles/congenital-fibre-type-disproportion-cftd

    Congenital Fibre-Type Disproportion (CFTD) is a rare congenital myopathy characterized by a disproportion in muscle fibre size. The key features and considerations for CFTD are summarized below: Overview CFTD is considered a diagnosis of exclusion. It...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 61 - 80 of 84