Neuropediatrics 2013; 44 - VS13_04
DOI: 10.1055/s-0033-1337704

Lafora disease in a 17-year-old boy due to a compound heterozygous mutation in the NHLRC1 gene

E Böhringer 1, G Kluger 1, C Steinbeis-von Stülpnagel 1, A Kohlschütter 2, A Meyer-Osores 2, C Hagel 3, M Baethmann 4, S Leiz 4
  • 1Schön Klinik Vogtareuth Neuropädiatrie, Vogtareuth, Germany
  • 2Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
  • 3Institut für Neuropathologie, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
  • 4Klinikum Dritter Orden München-Nymphenburg, Klinik für Kinder- und Jugendmedizin, München, Germany

Aims: Progressive myoclonus epilepsy is an important differential diagnosis in pharmacoresistant epilepsy. We discuss a case of Lafora disease in a video documentation to demonstrate that this rare epileptic syndrome might be diagnosed even in youth as long as the characteristic case history and clinical symptoms are correctly understood.

Method: Case report with video presentation.

Results: A 17-year-old adolescent with normal development until first tonic-clonic seizure at the age of 13, IQ = 110 in HAWIK IV, healthy twin sister.

Four years later: Serious number of nonepileptic myoclonus at rest, myoclonic jerks, absences, focal occipital epileptic seizures (flash), generalized tonic-clonic seizures, ataxia, speech disorder, cognitive impairment, IQ declines to 83 (HAWIK IV). EEG: continuous generalized deceleration and generalized spikes. Antiepileptic treatment: valproate, levetiracetam, zonisamide. Steroids: no effect; ethosuximide: dramatical cognitive impairment, reversible after stopping ethosuximide. Add-on of piracetam: reduction of nonepileptic myoclonus. Currently, stabilization of the epileptic seizures with levetiracetam, lamotrigine, and valproate. Patient attends now to a special residential school.

Genetic panel diagnostic (Center of Genomics and Transcriptomics, Tübingen): revealed a compound heterozygous mutation in the NHLRC1 gene:

(c.[32C>A;391G>A]+[667_669delAAC]p.[A11E;G131R]+[223delT])

Histology: Lafora bodies.

Conclusion: Case history and clinical presentation with generalized tonic-clonic-seizures, focal seizures, epileptic and nonepileptic myoclonus, ataxia, and cognitive impairment may indicate a progressive myoclonus epilepsy. Rapid aggravation of cognitive impairment and myoclonus preferential at rest rather during action allow distinguishing Lafora disease from Unverricht-Lundborg disease. Therapy is palliative with the goal of improving quality of daily life and to preserve autonomy as good as possible.