progressive_myoclonic_epilepsy

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 ====== Progressive myoclonic epilepsy ====== ====== Progressive myoclonic epilepsy ======
  
-===== 🧠 Case Reports =====+====== Progressive Myoclonic Epilepsy (PME) ======
  
-In a single-patient illustrative case,   +Progressive Myoclonic Epilepsy (PME) refers to a **heterogeneous group of rare epileptic disorders** marked by the combination of:
-**Mine et al.**, from Kyushu University, [[Fukuoka]], Japan,   +
-published in the [[Journal of Neurosurgery Case Lessons]],   +
-report the **first adult case** of [[Dentatorubral-pallidoluysian atrophy]] (DRPLA)-associated [[progressive myoclonic epilepsy]] (PME) treated with a **[[total corpus callosotomy]] (CC)** for [[refractory]] [[seizure]]s.+
  
-→ **Outcome**:   +  * **Myoclonus**: Sudden, brief, shock-like muscle jerks. 
-Total CC led to a **marked reduction in seizure frequency**.   +  * **Seizures**: Often generalized tonic-clonic. 
-Tonic seizures and FBTCSs with desaturation resolved by 1 year, with notable **improvement in quality of life (QOL)**.+  * **Progressive neurological deterioration**: Cognitive decline, cerebellar ataxia, and sometimes behavioral changes.
  
-((Mine D, Shimogawa T, Sakai Y, Shigeto H, Okubo S, Sakata A, Watanabe E, Nakamizo A, Yoshimoto K. Total corpus callosotomy for an adult patient with progressive myoclonic epilepsy associated with dentatorubral-pallidoluysian atrophy: illustrative case. ''J Neurosurg Case Lessons''. 2025 Jul 7;10(1):CASE2576. doi:10.3171/CASE2576. PMID: 40623331.))+===== 🧠 Core Clinical Features =====
  
-----+  * Multifocal **myoclonus**, often **stimulus-sensitive**. 
 +  * **Seizures**: Generalized tonic-clonic (GTC) most common. 
 +  * **Progressive neurological dysfunction**, including: 
 +    * Cognitive decline 
 +    * Cerebellar signs (ataxia, dysarthria) 
 +    * Pyramidal and extrapyramidal features in some cases 
 +  * Onset usually in **childhood or adolescence**, but adult-onset forms exist.
  
-===== 🔎 Critical Appraisal =====+===== 🧬 Etiologies =====
  
-  * **🟢 Strengths**   +Common genetic and metabolic causes of PME include:
-    * Novelty: First reported adult DRPLA-PME corpus callosotomy.   +
-    * Clearly disabling epilepsy: Myoclonus, tonic seizures, desaturation.   +
-    * Clear outcome: Sustained seizure reduction at 1-year.+
  
-  * **🟡 Limitations**   +^ Disorder ^ Gene(s) ^ Notes ^ 
-    * Single case → low external validity.   +| **Unverricht-Lundborg (EPM1)** | ''CSTB'' | Most common in some populations; relatively benign. | 
-    * No comparator: No data vs. anterior CC or other therapies.   +| **Lafora disease** | ''EPM2A'', ''NHLRC1'' | Severe, rapidly progressive; Lafora bodies in neurons. | 
-    * Cognitive effects unquantified.   +| **Neuronal ceroid lipofuscinosis (NCLs)** | Multiple | Visual loss, seizures, cognitive regression. | 
-    * DRPLA is a diffuse neurodegenerative disease; CC does not target focus directly.+| **MERRF** (Myoclonic Epilepsy with Ragged Red Fibers) | Mitochondrial DNA (''MT-TK'') | Myopathy, ataxia, hearing loss, lactic acidosis. | 
 +| **Sialidosis** | ''NEU1'' | Myoclonus, cherry-red macula, coarse facial features. | 
 +| **DRPLA** (Dentatorubral-pallidoluysian atrophy) | ''ATN1'' | Trinucleotide repeat disorder; ataxia, chorea, dementia. |
  
-  * **🧠 Intellectual Rigour**   +===== 🔍 Diagnosis =====
-    * Palliative intent is explicitly acknowledged.   +
-    * Cites prior PME cases (mostly pediatric, non-DRPLA).   +
-    * Lacks deeper comparison to alternatives (e.g. VNS, thalamic DBS).+
  
- ===== 🏁 Clinical Verdict ===== +  * **Clinical suspicion** based on triad: myoclonus + seizures + decline. 
-**★★★☆☆ 6/10**   +  * **EEG**: Generalized polyspike-and-wave; background slowing. 
-Interesting and rare case with clear illustrative value.   +  * **MRI**: Often shows cerebellar or cortical atrophy. 
-However, it lacks broader context, comparative analysis, and rigorous outcome measurement.+  * **Genetic testing**: Crucial for etiologic diagnosis. 
 +  * **Metabolic workup**: Especially in pediatric or atypical cases.
  
-----+===== 💊 Treatment =====
  
 +=== Antiepileptic Therapy ===
 +  * Often **resistant** to standard drugs.
 +  * Useful agents:
 +    * ''Levetiracetam''
 +    * ''Valproate''
 +    * ''Clonazepam''
 +    * ''Zonisamide''
 +    * ''Piracetam''
 +  * **Avoid**: ''Phenytoin'', ''Carbamazepine'' → can worsen myoclonus.
  
-===== 🧰 Takeaway for Practicing Neurosurgeons =====+=== Supportive and Adjunctive Care === 
 +  * **Neurorehabilitation** 
 +  * **Cognitive support and education** 
 +  * **Nutritional care** 
 +  * **Speech and physical therapy**
  
-**Clinical context:**   +=== Experimental and Palliative Options === 
-In **adult patients** with [[Dentatorubral-pallidoluysian atrophy]] (DRPLA)-related **progressive myoclonic epilepsy (PME)** that is **disabling** and **refractory to standard therapies**,   +  * Targeted therapy for specific mutations (still in development). 
-→ a **[[total corpus callosotomy]]** may offer **clinically meaningful palliation**.+  * **Corpus callosotomy** may help in **refractory disabling myoclonus** (e.g., in adult DRPLA).
  
-**Key benefits observed:**   +===== 📉 Prognosis =====
-  * ✅ **Rapid reduction** in seizure frequency   +
-  * ✅ **Resolution of desaturation** episodes   +
-  * ✅ **Improved quality of life (QOL)** at 1-year follow-up  +
  
-**Safety:**   +  * Variable and depends on cause. 
-  * 🚫 No major additional neurological or systemic harm reported postoperatively+    * EPM1: slower decline. 
 +    * Lafora, NCLs: rapidly fatal. 
 +  * Most patients eventually suffer **severe disability**.
  
-**Bottom line:**   +===== 🧰 Summary for Clinicians =====
-> This case supports **considering total callosotomy** as a **palliative surgical option** in select adult PME cases where conventional therapies have failed.+
  
-----+  * PME should be suspected in young patients with myoclonus, seizures, and cognitive/neurological regression. 
 +  * Early **genetic confirmation** is crucial for prognosis and family counseling. 
 +  * Multidisciplinary care is essential.
  
-===== ✅ Bottom Line ===== 
-Total corpus callosotomy may be a **reasonable and effective palliative option**   
-in **adult-onset DRPLA-related PME**, particularly when conventional treatments have failed. 
  
- 
-==== 🗂️ WordPress Categories ==== 
-  * Case Report 
-  * Epilepsy Surgery 
-  * DRPLA 
-  * Corpus Callosotomy 
- 
-==== 🏷️ Tags ==== 
-  * PME   
-  * DRPLA   
-  * callosotomy   
-  * adult epilepsy   
-  * palliative neurosurgery   
-  * case lessons 
  
  • progressive_myoclonic_epilepsy.txt
  • Last modified: 2025/07/08 04:04
  • by administrador