Stickler syndrome associated with epilepsy: report of three cases

Salvatore Savasta, Vincenzo Salpietro, Maria Valentina Spartà, Thomas Foiadelli, Daniela Laino, Lucio Lobefalo, Gian Luigi Marseglia, Alberto Verrotti

Research output: Contribution to journalArticlepeer-review


Stickler syndrome is a genetically heterogeneous collagenopathy characterized by auditory, ocular, musculoskeletal, and orofacial abnormalities. Stickler syndrome type 1 typically presents ophthalmologic involvement and is due to heterozygous defects of the COL2A1 gene, that have been also identified as the molecular cause of a continuous spectrum of different disorders mainly affecting the cartilage and bone (i.e., Kniest dysplasia, achondrogenesis type II, Legg-Calvè-Perthes disease). We report three Caucasian children with: (a) ocular, oral, facial, auditory, and musculoskeletal manifestations of Stickler syndrome type 1; (b) history of generalized and/or partial seizures coupled with abnormal electroencephalographic records; and (c) pathogenic heterozygous mutations of the COL2A1 gene. Epilepsy has been never reported so far in literature as a possible feature of Stickler syndrome, although neurological presentations, including epilepsy and brain abnormalities, have been occasionally described in other COL2A1-related phenotypes (e.g., Legg-Calvè-Perthes disease). Conclusions: This report raises the possibility of a potential occurrence of seizures among the clinical manifestations of Stickler syndrome type 1, suggesting the presence of a continuous neurological spectrum in some individuals harboring heterozygous mutations in COL2A1.

Original languageEnglish
Pages (from-to)697-701
Number of pages5
JournalEuropean Journal of Pediatrics
Issue number5
Publication statusPublished - May 1 2015


  • Central nervous system
  • COL2A1
  • Epilepsy
  • Legg-Calvè-Perthes disease
  • Neurological symptoms
  • Stickler syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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