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Tuesday, 07 January 2025

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Assuming differential is required, the following 71 results were found.

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

    ME2, and microdeletions in 15q13.3, 15q11.2, and 16p13.11 contribute to JME risk (Delgado-Escueta AV et al., 2013). Differential Diagnosis Includes childhood or juvenile absence epilepsy, eyelid myoclonia with absences, progressive myoclonic epilepsy,...

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    • Author: Editor CNKE
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  2. Progressive myoclonus epilepsy https://cnke.org/articles/258

    and Purkinje cells, cortical and striatal gliosis, and atrophy of cortical neurons (Shannon 2002). Additional studies: Differential display oligonucleotide microarray hybridization and quantitative reverse transcriptase polymerase chain reaction:...

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

    Rare. The presence of a family history should lead to an investigation for specific genetic or metabolic etiologies. Differential Diagnosis Ohtahara syndrome Early myoclonic encephalopathy Shuddering attacks Cite this: Cite this: CNKE contributors.West...

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

    other-than-IS seizure types: 4.7 months (p...

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  5. Benign Familial Infantile Seizureshttps://cnke.org/articles/275

    Interictal neurological examination is normal. Brain CT and/or MRI are normal. Genetic Testing: Confirms the diagnosis. Differential Diagnosis Similar Conditions: Benign familial neonatal-infantile seizures. Benign non-familial infantile seizures....

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  6. Investigations in Epileptic Encephalopathieshttps://cnke.org/articles/321

    Differential Diagnosis Epileptic encephalopathies presenting with seizures as prominent/unique symptom Vitamin or enzymatic cofactor dependency Pyridoxine dependent epilepsy Folinic acid responsive epilepsy Pyridoxal-5′-phosphate responsive epilepsy...

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  7. Schwartz-Jampel Syndrome (SJS)https://cnke.org/articles/328

    marrow stromal cells. Diagnosis Characteristic Triad: Facial dysmorphism, skeletal deformities, myotonic discharges. Differential Diagnosis: Cramp and stiffness (Stiff person syndrome, Isaac's syndrome) Myotonic disorders (Congenital myotonic dystrophy,...

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

    opacification, usually present due to the thickening and loss of transparency of the posterior pole of the retina. The differential diagnosis of cherry red spot includes: Vascular causes Central Retinal Artery Occlusion (CRAO) Sudden, painless,...

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    • Category: Image of the Week

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

    Assmann B, Surtees R, Hoffmann GF (2003) Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia.Ann Neurol 54 Suppl 6 ():S18-24. DOI: 10.1002/ana.10628 PMID: 12891650. Ahmed MA,...

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  10. Metabolic derangements and Autismhttps://cnke.org/articles/126

    H.K. Hughes, K. Angkustsiri, M. Rose, I. Hertz-Picciotto, J. Van de Water, R.L. Hansen, J. Ravel, A. Fasano, P. Ashwood Differential immune responses and microbiota profiles in children with autism spectrum disorders and co-morbid gastrointestinal...

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

    spasticity, parkinsonism. Cataract surgery. Calcium/vitamin D for osteoporosis. Xanthoma excision (cosmetic reasons). Differential Diagnosis Marinesco–Sjogren syndrome: Similar features but lacks diarrhea and elevated cholestanol. Additional findings:...

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

    Other Genetic Factors: Array CGH and whole exome sequencing identify deletions or duplications in RTT-like phenotypes. Differential Diagnosis Conditions Resembling RTT: Angelman syndrome: Unique facial features, cheerful disposition, and hand flapping....

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  13. Fragile X Syndromehttps://cnke.org/articles/578

    and connective tissue abnormalities. Behavioral issues can lead to significant social and academic challenges. Differential Diagnosis Includes conditions with overlapping symptoms, such as: Sotos syndrome Prader-Willi syndrome Rett syndrome Autism...

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  14. Circadian Rhythm Sleep-Wake Disorders (CRSWD)https://cnke.org/articles/164

    Exclusion of confounding factors, including concurrent medical, psychiatric, or pharmacologic conditions. Comprehensive differential diagnosis is essential to identify the primary circadian pathology. Intrinsic CRSWDs: Delayed Sleep-Wake Phase Disorder...

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  15. The Cherry Red Spothttps://cnke.org/articles/170

    general anesthesia in pediatric cases. Over time: Cherry-red spot becomes less prominent as ganglion cells degenerate. Differential Diagnosis True cherry-red spot: Pale perifoveal retina with a distinct reddish fovea. Mimicking conditions: Macular...

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

    blind spot enlargement or peripheral field constriction. Humphrey visual field showing enlarged blind spot in both eyes. Differential Diagnosis Pseudopapilloedema: Optic disc drusen (autofluorescence, B-scan ultrasonography, or OCT). Optic Neuritis:...

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  17. Psychometric measureshttps://cnke.org/articles/197

    Scale for Children (WISC-V) Stanford-Binet Intelligence Scales (SB5) Kaufman Assessment Battery for Children (KABC-II) Differential Ability Scales (DAS-II) Woodcock-Johnson Tests of Cognitive Abilities (WJ-IV COG) Reynolds Intellectual Assessment Scales...

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

    (Allelic) Disorders No other phenotypes are currently associated with germline pathogenic variants in the ADCY5 gene. Differential Diagnosis: Hereditary Disorders ANO3: Disorder: DYT-ANO3 (Hereditary Dystonia). MOI: Autosomal dominant (AD). Overlapping...

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  19. Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)https://cnke.org/articles/215

    slowed conduction velocities beyond the affected region. Genetic testing: Identifies PMP22 deletion or point mutations. Differential diagnosis: Multifocal neuropathy without pressure sensitivity. Other hereditary neuropathies (e.g., CMT1A). Acquired...

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  20. Hereditary Neuralgic Amyotrophy (HNA)https://cnke.org/articles/216

    Family history of similar episodes or congenital presentations. Genetic testing: Confirms mutations in the SEPT9 gene. Differential diagnosis: Non-hereditary neuralgic amyotrophy. Other hereditary neuropathies (e.g., HNPP). Inflammatory or traumatic...

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    • Author: Editor CNKE
    • Category: Articles
Results 41 - 60 of 71