Clinical Reasoning: Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Notice bibliographique
Résumé
A 23-year-old woman was admitted to our department due to recurrent attacks of myoclonus and generalized tonic-clonic seizures, progressive intellectual disability, and gait instability.Her family history was unremarkable.The patient's growth and developmental milestones in childhood were normal.At the age of 12 years, she initially complained of lower limb fatigue and slow running.One year later, she began to exhibit a progressive decline in memory and understanding.She subsequently became introverted.At 15 years of age, her cognitive decline aggravated and bradykinesia and upper limb motor tremor appeared and she had slurred speech.At the age of 18, she had her first generalized tonic-clonic seizure (GTCS) during sleep.Shortly thereafter, myoclonus jerks appeared.Since then, she has experienced recurrent GTCS attacks and myoclonic jerking.Levetiracetam and clonazepam were given, but the seizures and myoclonic jerking remained poorly controlled.At the age of 22 years, she was no longer able to control body balance and often fell while walking and could not perform fine movements such as writing.Her vision and hearing were not impaired.Physical examination revealed dysarthria and intellectual deterioration.Cognitive testing yielded a Mini-Mental State Examination score of 16/30 and a Montreal Cognitive Assessment score of 12/30.Areas of cognitive dysfunction included orientation, attention and concentration, language, memory, and visuospatial function.Bradykinesia and postural and intention tremor were apparent.Mild weakness (classified as grade 4 according to the Medical Research Council criteria) was detected in all 4 limbs.Muscle tone was decreased, but deep reflexes were exaggerated and a positive bilateral Babinski sign was noticed.The patient exhibited dysmetria on the finger-to-nose test, moderate limb ataxia, and a prominent instability of gait.The gait was wide-based, hypokinetic, and ataxic, with difficulty turning, and the arm swing was significant reduced.Myoclonic jerking in the trunk and limbs could occasionally be noted.Visual acuity and hearing test results were normal.Corneal Kaiser-Fleischer ring was not detected by slitlamp examination.Cherry-red spot and macular degeneration were not found on fundus examination. Questions for consideration:1.In which areas could you localize possible lesions?2. What is your initial approach to investigation?
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,001 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».