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Tuesday, 07 January 2025

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Assuming diagnosis is required, the following 112 results were found.

  1. Hyperekplexiahttps://cnke.org/articles/236

    mutations in other genes related to glycinergic transmission (e.g., GLRB, SLC6A5) may also cause hyperekplexia. Diagnosis: Clinical Presentation: Neonates presenting with marked stiffness and exaggerated startle response are often diagnosed based on...

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

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

    and cartilage. Perlecan is critical for maintaining the structural integrity of cartilage and other connective tissues. Diagnosis: Clinical Diagnosis: Based on characteristic features such as short stature, facial dysmorphisms, and muscle stiffness....

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

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

    and multiminicore myopathy. Rare associations include nemaline myopathy, Schwartz–Jampel syndrome, and STAC3 myopathy. Diagnosis: In Vitro Contracture Test (IVCT): Evaluates muscle response to graded concentrations of caffeine and halothane. Sensitivity...

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

  4. Idiopathic Intracranial Hypertensionhttps://cnke.org/articles/178

    headache from primary headache disorders for effective management. References Raoof, N., & Hoffmann, J. (2021). Diagnosis and treatment of idiopathic intracranial hypertension. Cephalalgia: An International Journal of Headache, 41(4), 472–478....

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

  5. Investigating Lysosomal disordershttps://cnke.org/articles/163

    for the genes involved is often possible. Considerations of sensitivity and specificity should prevent, for example, the diagnosis of MLD in a child with primary generalized epilepsy or isolated dystonia with heterozygous levels of ARSA. These clinical...

    • Type: Article
    • Author: ICNA
    • Category: Home

  6. Biochemical investigations in Bloodhttps://cnke.org/articles/13

    (usually with burst-suppression) and any unexplained refractory epilepsy up to the age of 2 years at onset Supports a diagnosis of pyridoxine-dependent epilepsy (PDE) due to α-AASA-dehydrogenase deficiency Acylcarnitines Acute metabolic encephalopathy....

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

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

    defects, fatty acid disorder that will need organic acid analysis and acylcarnitines and possibly muscle biopsy for diagnosis Oligosaccharides Learning disability ± coarse features, corneal clouding, dysostosis. May be dysmorphic neonate, hydrops....

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

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

    by disturbance of the homeostatic control of interferon (IFN)-mediated immune responses [Eleftheriou D et al., 2018]. Diagnosis AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders Diagnosis is based on the...

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

  9. Ohtahara syndromehttps://cnke.org/articles/177

    pattern could become more frequent, diffuse, and of higher amplitude compared to the inter-ictal pattern. Management Diagnosis is based on the clinical picture and the electrographic characteristics. Neuroimaging is warranted to look for structural...

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

  10. Night Terrors https://cnke.org/articles/230

    research on using scheduled awakenings and vibration machines during the night to enhance quality of life Differential Diagnosis The differential diagnosis for night terrors can include: Seizures. Patients with nocturnal frontal lobe epilepsy can...

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

  11. Tension-type headachehttps://cnke.org/articles/40

    (less than one day per month), episodic frequent (1–14 days per month), and chronic (15 or more days per month). Diagnosis is primarily based on clinical history and a normal neurological examination, including vital signs and funduscopic assessment....

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

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

    emotional outbursts 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...

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

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

    tonic-clonic (GTC) seizures (85-90%). Clinical Features Myoclonic Seizures: Defining feature of JME, required for diagnosis. These seizures are short, bilateral jerking motions of the arms and legs, typically occurring 30 minutes to an hour after waking...

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

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

    Worsening of all manifestations, additional seizure types, and cognitive and behavioral decline within 2 years of diagnosis. Myoclonus: Frequent during wakeful hours, especially in the early morning, ceases with sleep. Affects walking, leading to...

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

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

    patients. ADHD common, along with various behavioral and psychiatric problems, causing significant distress. Differential Diagnosis Conditions to Differentiate From: Polymyoclonus and chorea, especially Sydenham chorea. Stereotypies and compulsive...

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

  16. 5,10-methenyltetrahydrofolate synthetase deficiencyhttps://cnke.org/articles/261

    Iran, Haiti, United States; ancestries include British Isles, France, Portugal, Italy, Austria, Czech Republic). Age of Diagnosis: Youngest diagnosed child was 4 years old. No adult diagnoses, possibly due to lack of testing or recognition. Affects...

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

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

    most cases. Treatment Yaghini et al. (2016) noted four children responding well to topiramate. Diagnostic and Differential Diagnosis Kimura and Nezu (1998) suggested BPTI is a dystonic phenomenon. BPTI is considered an early manifestation of migraine or...

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

  18. Plagiocephaly in infantshttps://cnke.org/articles/282

    on the suture involved. Potential for increased intracranial pressure and neurodevelopmental deficits in severe cases. Diagnosis Clinical Evaluation: Physical examination for cranial asymmetry, facial symmetry, and assessment of torticollis. Imaging:...

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

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

    defects, fatty acid disorder that will need organic acid analysis and acylcarnitines and possibly muscle biopsy for diagnosis Oligosaccharides Learning disability ± coarse features, corneal clouding, dysostosis. May be dysmorphic neonate, hydrops....

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

  20. Fetal Neurologyhttps://cnke.org/articles/355

    neurology is a specialized branch of medicine that focuses on the study, diagnosis, and management of neurological conditions affecting the developing fetus. This field encompasses the understanding of normal fetal brain development, the identification...

    • Type: Article
    • Author: Editor
    • Category: Home
Results 41 - 60 of 112