[MIM 254 780]

Progressive myoclonic epilepsy. Very rare. Autosomal recessive transmission of mutations in the EPM2A gene (6q24)(80% of cases) or EMP2B/NHLRC1 gene (6p22.3) (20%) that code for laforin and maline respectively.

Onset during the second decade (early teens) in the form of generalized or focal myoclonic seizures (if occipital: hallucinations). Difficult treatment of epilepsy, deterioration of cognitive functions (dysarthria, ataxia, dementia). In general, deaths in the 10 years following diagnosis.

Diagnosis: Lafora bodies (polyglucosans presenting as basophilic intracytoplasmic extralysosomial structures at skin biopsy (sweat glands in the axillae)

Anesthetic implications:

epilepsy; it seems that phenytoin, carbamzepine and vigabatrin could increase myoclonus.

References : 

-         Poyrazoglu HG, Karaca E, Per H, Gumus H et al. 
Three patients with Lafora disease : different clinical presentations and a novel mutation. 
J Child Neurol  DOI: 10.1177/0883073814535489

Updated: February 2019