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Stickler syndrome associated with epilepsy: report of three cases

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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.

What is Known:

• 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.

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Abbreviations

CNS:

Central nervous system

EEG:

Electroencephalogram

GTCS:

Generalized tonic-clonic seizures

LCPD:

Legg-Calvè-Perthes disease

MRI:

Magnetic resonance image

STL:

Stickler syndrome

STL1:

Stickler syndrome type 1

VEP:

Visual-evoked potentials

AEP:

Auditive-evoked potentials

PCR:

Polymerase chain reaction

VPA:

Valproic acid

SEDC:

Spondyloepiphyseal dysplasia congenital

KD:

Kniest dysplasia.

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Compliance with ethical standards

All the authors declare that they have no conflict of interest.

Author’s contributions

SS and AV wrote the article, critically reviewed the article, and contributed to data collection. MVS, TF, DL, and GM contributed to study design and analysed and interpreted the data, and takes responsibility for the study as a whole. LL and VS contributed to data collection.

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Authors and Affiliations

  1. Department of Pediatrics, IRCSS Policlinico “San Matteo”, University of Pavia, Pavia, Italy

    Salvatore Savasta, Maria Valentina Spartà, Thomas Foiadelli & Gian Luigi Marseglia

  2. Department of Pediatrics, University of Messina, Messina, Italy

    Vincenzo Salpietro

  3. Department of Pediatrics, University of Perugia, Perugia, Italy

    Daniela Laino & Alberto Verrotti

  4. Department of Experimental and Clinical Sciences-Section of Ophthalmology, University of Chieti, Chieti, Italy

    Lucio Lobefalo

Authors
  1. Salvatore Savasta
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  2. Vincenzo Salpietro
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  3. Maria Valentina Spartà
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  4. Thomas Foiadelli
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  5. Daniela Laino
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  6. Lucio Lobefalo
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  7. Gian Luigi Marseglia
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  8. Alberto Verrotti
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Corresponding author

Correspondence to Alberto Verrotti.

Additional information

Communicated by Beat Steinmann

Revisions received: 03 January 2015 / 23 January 2015

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Savasta, S., Salpietro, V., Spartà, M.V. et al. Stickler syndrome associated with epilepsy: report of three cases. Eur J Pediatr 174, 697–701 (2015). https://doi.org/10.1007/s00431-015-2514-8

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  • DOI: https://doi.org/10.1007/s00431-015-2514-8

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