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Monday, 06 January 2025

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Editor

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Assuming ataxias is required, the following 46 results were found.

  1. 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

  2. Opsoclonus Myoclonus Ataxia Syndromehttps://cnke.org/articles/330

    Recommendations for the Dosing and Monitoring of Immunotherapeutic Agents in the Treatment of OMAS: Steroid Treatment and Ivig Treatment of OMS in children Prompt treatment is generally considered important and should be initiated when a diagnosis of...

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

  3. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    Investigations and Management of Rare Treatable Neurological Disorders 1. AR-GCH1 Deficiency Without Hyperphenylalaninaemia Presentation: Resembles cerebral palsy, oculogyric crises, tremulousness, bradykinesia. Key Investigations: Phenylalanine...

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

  4. Dentatorubral-Pallidoluysian Atrophy (DRPLA)https://cnke.org/articles/211

    DRPLA (dentatorubral-pallidoluysian atrophy) is a progressive neurologic disorder characterized by ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations. Overview Hallmark features Ataxia Cognitive decline Myoclonus...

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

  5. Biochemical investigations in Urinehttps://cnke.org/articles/167

    Urine biochemistry Test Indications Precautions Interpretation α-AASA (a-amino-adipic semialdehyde) Neonatal epileptic seizures (usually with suppression-burst), or later...

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

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

    Severe myoclonic epilepsy in infancy (SME) was described by Charlotte Dravet in 1978. In the Revised ILAE classification of epilepsies, the SMEI is named “Dravet syndrome” because of the lack of myoclonic seizures in many patients and is considered...

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

  7. Lafora diseasehttps://cnke.org/articles/259

    Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence. It is characterized...

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

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

    Severe myoclonic epilepsy in infancy (SME) was described by Charlotte Dravet in 1978. In the Revised ILAE classification of epilepsies, the SMEI is named “Dravet syndrome” because of the lack of myoclonic seizures in many patients and is considered...

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

  9. Benign Paroxysmal Torticollis of Infancyhttps://cnke.org/articles/270

    Etymology and Definition The name "torticollis" comes from the Latin words "tortus" (twisted) and "collum" (neck). Torticollis typically involves the head being tilted to one side and rotated so that the chin points to the opposite side. It is a common...

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    • Author: Editor
    • Category: Home

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

    Urine Biochemistry Test Indications Precautions Interpretation α-AASA (a-amino-adipic semialdehyde) Neonatal epileptic seizures (usually with suppression-burst), or later pyridoxine-responsive epilepsy No need to obtain urine before giving pyridoxine or...

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

  11. cherry-red-spothttps://cnke.org/?view=article&id=118:350&catid=15

    The Cherry Red Spot refers to the appearance of a red-tinted region at the center of the macula surrounded by retinal opacification, usually present due to the thickening and loss of transparency of the posterior pole of the retina. The differential...

    • Type: Article
    • Author: Editor
    • Category: Image of the Week

  12. The History of Rett Syndromehttps://cnke.org/historical-vignettes/162

    Rett syndrome, a rare neurodevelopmental disorder predominantly affecting females, is characterized by profound physical and cognitive impairments. It was first described in 1966 by Dr. Andreas Rett, an Austrian pediatrician whose tireless work has...

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

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

    Charcot–Marie–Tooth disease (CMT) refers to a group of genetically heterogeneous disorders affecting peripheral nerve function. Charcot–Marie–Tooth disease (CMT) Definition: Charcot–Marie–Tooth disease (CMT) refers to a group of genetically...

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

  14. Posterior Fossa Syndrome (PFS)https://cnke.org/articles/248

    Definition and Overview Posterior Fossa Syndrome (PFS): A constellation of neurological and behavioral symptoms occurring in children following posterior fossa tumor resection. Incidence: Occurs in approximately 8% of children undergoing posterior...

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

  15. Paroxysmal Kinesigenic Dyskinesiashttps://cnke.org/articles/271

    and a new classification. Mov Disord 29: 1108–16. Jankovic J, Demirkiran M. Classification of paroxysmal dyskinesias and ataxias. Adv Neurol 2002;89:387–400. Kertesz A (1967) Paroxysmal kinesigenic choreoathetosis. Neurology 17: 680–90. Kure S. Atypical...

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    • Author: Editor
    • Category: Home

  16. Biju Hameedhttps://cnke.org/editors/biju-hameed

    Dr. Biju Abdul Hameed obtained his medical degree from India in 1994 and went on to complete his further training at Bristol Royal Hospital for Children in the United Kingdom. There, Dr. Hameed worked as a consultant pediatric neurologist in 2016 and...

    • Type: Article
    • Author: Editor
    • Category: Editors

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

    Overview PLA2G6-associated neurodegeneration (PLAN), also referred to as NAD or PARK14, is caused by mutations in the gene encoding calcium-independent phospholipase A2 (PLA2G6) (Figs 19.6a and 19.6b). The disease can manifest as classic infantile...

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

  18. Genetic Epilepsy with Febrile Seizures Plus (GEFS+)https://cnke.org/articles/276

    Overview Spectrum of Seizure Disorders Varying severity Diagnosed in families with: Febrile seizures (triggered by high fever) Recurrent seizures (epilepsy) of other types, including afebrile seizures Seizure Types: Generalized seizures Partial...

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

  19. Common Epilepsy Geneshttps://cnke.org/articles/277

    Ion Channel Genes SCN1A Dravet syndrome Generalized epilepsy with febrile seizures plus (GEFS+) SCN2A Benign familial neonatal-infantile seizures (BFNIS) Epileptic encephalopathy SCN8A Epileptic encephalopathy KCNQ2 Benign familial neonatal seizures...

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    • Author: Editor
    • Category: Home

  20. Pendular Nystagmushttps://cnke.org/articles/462

    Definition Pendular nystagmus is a form of involuntary eye movement characterized by oscillations of equal speed in both directions, resembling a pendulum's motion. It can affect one or both eyes and is typically seen in neurological or sensory...

    • Type: Article
    • Author: Editor
    • Category: Home
Results 21 - 40 of 46