Unverricht-Lundborg Disease: Tackling the Challenges of a Complex Clinical Picture


  • Mafalda Ferreira dos Santos Center for Child Development – Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Pediatrics Department, Centro Hospitalar Tondela-Viseu, Viseu, Portugal
  • Mário Laço Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Faculty of Health Sciences, University of Beira Interior, Covilhã, Portugal
  • Conceição Robalo Center for Child Development – Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
  • Filipe Palavra Center for Child Development – Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Laboratory of Pharmacology and Experimental Therapeutics, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal https://orcid.org/0000-0002-2165-130X




Child, Unverricht-Lundborg Syndrome


Unverricht-Lundborg disease (ULD), also called progressive myoclonic epilepsy type 1, is characterized by stimulus-induced myoclonus and seizures without major progressive cognitive deficit, usually presenting during late childhood and early adolescence. It is an autosomal recessive disease, and, so far, only pathogenic variants in the gene encoding cystatin B (CSTB) have been described. We report the case of a 9-year-old boy who presented with generalized tonic-clonic seizures and developed paroxysmal myoclonic events over several years. The patient was started on antiseizure medication, but disease progression resulted in several changes to the therapeutic scheme, with highly variable clinical responses. The genetic study detected the pathogenic variant c.67-1G>C p.(?) in heterozygosity in the CSTB gene, after having identified the typical dodecameric expansion in the other allele, confirming the diagnosis of ULD.


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How to Cite

Ferreira dos Santos M, Laço M, Robalo C, Palavra F. Unverricht-Lundborg Disease: Tackling the Challenges of a Complex Clinical Picture. Sinapse [Internet]. 2024 Jan. 27 [cited 2024 Apr. 16];23(4):217-22. Available from: https://sinapse.pt/index.php/journal/article/view/7

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