Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome

Salvatore Savasta, Alberto Verrotti, Maria Valentina Spartà, Thomas Foiadelli, Maria Pia Villa, Pasquale Parisi

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Purpose: Ehlers-Danlos syndrome (EDS), comprising a variety of inherited connective tissue disorders, has already been described in association with various neurological features, particularly with epilepsy and periventricular heterotopia (PH). Until now, there are reports of only bilateral periventricular heterotopia associated with Ehlers-Danlos syndrome. Methods and results: Here we describe a 1-year, 4-month-old female who came under our care in the Pediatric Emergency Room because of prolonged afebrile generalized seizures, whose clinical picture allowed us to suspect a diagnosis of Ehlers-Danlos syndrome. Neuroradiological investigations showed unilateral periventricular heterotopias, and genetic analyses confirmed the hypothesized diagnosis, identifying in particular a mutation in the COL5A1 gene. After starting anticonvulsant therapy, her seizures showed a good response with seizure control and she had a favorable long-term course. Conclusion: To our knowledge, this is the first report of unilateral periventricular heterotopia associated with Ehlers-Danlos syndrome. We first hypothesized a mosaicism as the cause of both, a unilateral localization of the heterotopias and a favorable long-term course with good response to anticonvulsant therapy; however, intriguingly, we could not demonstrate a mosaicism as the genetic condition in our patient and the neuroradiological findings and the favorable clinical outcome still remain unexplained.

Original languageEnglish
Pages (from-to)27-29
Number of pages3
JournalEpilepsy and Behavior Case Reports
Volume4
DOIs
Publication statusPublished - May 28 2015

Fingerprint

Periventricular Nodular Heterotopia
Ehlers-Danlos Syndrome
Epilepsy
Seizures
Mosaicism
Anticonvulsants
Connective Tissue
Hospital Emergency Service
Pediatrics
Mutation
Therapeutics
Genes

Keywords

  • COL5A1 gene mutation
  • Ehlers-Danlos syndrome
  • Epilepsy
  • Neuronal migration disorders
  • Unilateral periventricular heterotopia

ASJC Scopus subject areas

  • Behavioral Neuroscience
  • Neurology
  • Clinical Neurology

Cite this

Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome. / Savasta, Salvatore; Verrotti, Alberto; Spartà, Maria Valentina; Foiadelli, Thomas; Villa, Maria Pia; Parisi, Pasquale.

In: Epilepsy and Behavior Case Reports, Vol. 4, 28.05.2015, p. 27-29.

Research output: Contribution to journalArticle

Savasta, Salvatore ; Verrotti, Alberto ; Spartà, Maria Valentina ; Foiadelli, Thomas ; Villa, Maria Pia ; Parisi, Pasquale. / Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome. In: Epilepsy and Behavior Case Reports. 2015 ; Vol. 4. pp. 27-29.
@article{0e4e1492c1a44310b1a89173f1a26095,
title = "Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome",
abstract = "Purpose: Ehlers-Danlos syndrome (EDS), comprising a variety of inherited connective tissue disorders, has already been described in association with various neurological features, particularly with epilepsy and periventricular heterotopia (PH). Until now, there are reports of only bilateral periventricular heterotopia associated with Ehlers-Danlos syndrome. Methods and results: Here we describe a 1-year, 4-month-old female who came under our care in the Pediatric Emergency Room because of prolonged afebrile generalized seizures, whose clinical picture allowed us to suspect a diagnosis of Ehlers-Danlos syndrome. Neuroradiological investigations showed unilateral periventricular heterotopias, and genetic analyses confirmed the hypothesized diagnosis, identifying in particular a mutation in the COL5A1 gene. After starting anticonvulsant therapy, her seizures showed a good response with seizure control and she had a favorable long-term course. Conclusion: To our knowledge, this is the first report of unilateral periventricular heterotopia associated with Ehlers-Danlos syndrome. We first hypothesized a mosaicism as the cause of both, a unilateral localization of the heterotopias and a favorable long-term course with good response to anticonvulsant therapy; however, intriguingly, we could not demonstrate a mosaicism as the genetic condition in our patient and the neuroradiological findings and the favorable clinical outcome still remain unexplained.",
keywords = "COL5A1 gene mutation, Ehlers-Danlos syndrome, Epilepsy, Neuronal migration disorders, Unilateral periventricular heterotopia",
author = "Salvatore Savasta and Alberto Verrotti and Spart{\`a}, {Maria Valentina} and Thomas Foiadelli and Villa, {Maria Pia} and Pasquale Parisi",
year = "2015",
month = "5",
day = "28",
doi = "10.1016/j.ebcr.2015.05.004",
language = "English",
volume = "4",
pages = "27--29",
journal = "Epilepsy and Behavior Case Reports",
issn = "2213-3232",
publisher = "Elsevier BV",

}

TY - JOUR

T1 - Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome

AU - Savasta, Salvatore

AU - Verrotti, Alberto

AU - Spartà, Maria Valentina

AU - Foiadelli, Thomas

AU - Villa, Maria Pia

AU - Parisi, Pasquale

PY - 2015/5/28

Y1 - 2015/5/28

N2 - Purpose: Ehlers-Danlos syndrome (EDS), comprising a variety of inherited connective tissue disorders, has already been described in association with various neurological features, particularly with epilepsy and periventricular heterotopia (PH). Until now, there are reports of only bilateral periventricular heterotopia associated with Ehlers-Danlos syndrome. Methods and results: Here we describe a 1-year, 4-month-old female who came under our care in the Pediatric Emergency Room because of prolonged afebrile generalized seizures, whose clinical picture allowed us to suspect a diagnosis of Ehlers-Danlos syndrome. Neuroradiological investigations showed unilateral periventricular heterotopias, and genetic analyses confirmed the hypothesized diagnosis, identifying in particular a mutation in the COL5A1 gene. After starting anticonvulsant therapy, her seizures showed a good response with seizure control and she had a favorable long-term course. Conclusion: To our knowledge, this is the first report of unilateral periventricular heterotopia associated with Ehlers-Danlos syndrome. We first hypothesized a mosaicism as the cause of both, a unilateral localization of the heterotopias and a favorable long-term course with good response to anticonvulsant therapy; however, intriguingly, we could not demonstrate a mosaicism as the genetic condition in our patient and the neuroradiological findings and the favorable clinical outcome still remain unexplained.

AB - Purpose: Ehlers-Danlos syndrome (EDS), comprising a variety of inherited connective tissue disorders, has already been described in association with various neurological features, particularly with epilepsy and periventricular heterotopia (PH). Until now, there are reports of only bilateral periventricular heterotopia associated with Ehlers-Danlos syndrome. Methods and results: Here we describe a 1-year, 4-month-old female who came under our care in the Pediatric Emergency Room because of prolonged afebrile generalized seizures, whose clinical picture allowed us to suspect a diagnosis of Ehlers-Danlos syndrome. Neuroradiological investigations showed unilateral periventricular heterotopias, and genetic analyses confirmed the hypothesized diagnosis, identifying in particular a mutation in the COL5A1 gene. After starting anticonvulsant therapy, her seizures showed a good response with seizure control and she had a favorable long-term course. Conclusion: To our knowledge, this is the first report of unilateral periventricular heterotopia associated with Ehlers-Danlos syndrome. We first hypothesized a mosaicism as the cause of both, a unilateral localization of the heterotopias and a favorable long-term course with good response to anticonvulsant therapy; however, intriguingly, we could not demonstrate a mosaicism as the genetic condition in our patient and the neuroradiological findings and the favorable clinical outcome still remain unexplained.

KW - COL5A1 gene mutation

KW - Ehlers-Danlos syndrome

KW - Epilepsy

KW - Neuronal migration disorders

KW - Unilateral periventricular heterotopia

UR - http://www.scopus.com/inward/record.url?scp=84931272820&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84931272820&partnerID=8YFLogxK

U2 - 10.1016/j.ebcr.2015.05.004

DO - 10.1016/j.ebcr.2015.05.004

M3 - Article

VL - 4

SP - 27

EP - 29

JO - Epilepsy and Behavior Case Reports

JF - Epilepsy and Behavior Case Reports

SN - 2213-3232

ER -