title: Stickler syndrome associated with epilepsy: report of three cases.
abstract: 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.
  
  
  BACKGROUND
  • Stickler syndrome is a genetically heterogeneous collagenopathy characterized by auditory, ocular, musculoskeletal, and orofacial anomalies. What is New: • Involvement of the nervous central system is not a typical feature of Stickler syndrome and the association with epilepsy has not been reported so far. • This report raises the possibility of a potential occurrence of seizures among the clinical manifestations of Stickler syndrome type 1, suggesting a continuous neurological spectrum in some individuals affected by heterozygous mutations of COL2A1.
authors: Department of Pediatrics, IRCSS Policlinico "San Matteo", University of Pavia, Pavia, Italy, s.savasta@smatteo.pv.it.
authors: Salvatore
authors: S
authors: Savasta
authors: Vincenzo
authors: V
authors: Salpietro
authors: Maria Valentina
authors: MV
authors: Spartà
authors: Thomas
authors: T
authors: Foiadelli
authors: Daniela
authors: D
authors: Laino
authors: Lucio
authors: L
authors: Lobefalo
authors: Gian Luigi
authors: GL
authors: Marseglia
authors: Alberto
authors: A
authors: Verrotti
mesh_terms: D001168:Arthritis / Q000150:complications* / Q000235:genetics; D024043:Collagen Type II / Q000235:genetics; D003240:Connective Tissue Diseases / Q000150:complications* / Q000235:genetics; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012163:Retinal Detachment / Q000150:complications* / Q000235:genetics; D012640:Seizures / Q000209:etiology
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II