Hyperammonemic Encephalopathy Associated with Perampanel: Case Report and Discussion
Notice bibliographique
Résumé
Hyperammonemic encephalopathy (HE) can manifest with variable symptoms ranging from mild to severe such as lethargy, fatigue, seizure exacerbation, altered behavior, insomnia, impaired consciousness, gait instability, and flapping tremor.1,2,3 Valproate-induced HE has long been described, but can be under-recognized, as mild symptoms can mimic side effects of antiepileptic drugs (AEDs).Hyperammonemia may occur even if serum valproic acid (VPA) levels are within the reference range with normal or slightly elevated liver enzymes serum levels.2,3 Other AEDs have rarely been associated with HE.Adding Levetiracetam (LEV), Phenobarbital (PB), or Topiramate (TPM) to a patient already taking VPA has been reported to trigger HE. 1,4,5 TPM, in particular, may increase that risk 10-fold 5 Moreover, there are case reports describing HE in patients taking Carbamazepine (CBZ) either as monotherapy or in combination with other AEDs, 6 and with TPM monotherapy.7 We report a case of HE associated with Perampanel (PER).The patient is a 27-year-old male with a history of autism, microcephaly, developmental delay, and seizures associated with an 11 Mb pathogenic 8p23.3p23.1 deletion, involving CLN8, ARHGEF10, MCPH1, and RP1L1 genes.There was no family history of epilepsy, autism, or developmental delay.He was the product of a normal pregnancy and uncomplicated delivery at 36 weeks.His seizures began at the age of 8 years, consisting of focal onset with impaired awareness, evolving to bilateral tonicclonic convulsions.The focal symptoms were characterized by staring, cyanosis of the lips, frothing, and eye fluttering.He had several hospital admissions due to status epilepticus.At the age of 15 years, his seizures stopped on a combination of TPM 500 mg/ day and CBZ 800 mg/day.After 12 years of seizure freedom, antiepileptic drug tapering was attempted.CBZ was successfully weaned, but after reducing TPM his seizures recurred.CBZ was reintroduced, TPM was increased and lastly, phenytoin was added after one emergency room visit.As seizures did not abate, 8 months after adding phenytoin, PER was added and titrated up to 4 mg/day.One month after adding PER, his mother reported he was drowsy, fatigued, and began to have events described as "collapsing" episodes where he would lose consciousness and fall, with few associated jerks.His mother described these events as clearly different from his previous seizures.He was admitted to the hospital where blood work showed increased levels of ammonia: 139 umol/L (11-35) and slightly elevated liver enzymes (AST: 69 U/L [7-40], ALP: 92 U/L [40-150]).He was then transferred to the Epilepsy Monitoring Unit (EMU).During video EEG monitoring, two of his typical focal onset seizures with impaired awareness were recorded, without clear localization or lateralization on EEG.He also experienced one "collapsing" episode in the EMU, witnessed by a nurse, and
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Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,004 |
| Méta-épidémiologie (sens strict) | 0,003 | 0,002 |
| Méta-épidémiologie (sens large) | 0,002 | 0,002 |
| Bibliométrie | 0,004 | 0,003 |
| Études des sciences et des technologies | 0,004 | 0,003 |
| Communication savante | 0,003 | 0,005 |
| Science ouverte | 0,002 | 0,002 |
| Intégrité de la recherche | 0,012 | 0,007 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,005 | 0,002 |
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 source (Gemma direct ou Codex distillé), 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 ».