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Familiar periventricular nodular heterotopia in a 1year old female child

Year 2013, Volume: 5 , - , 24.05.2013

Anastasia Gkampeta , Dimitrios Cassimos Paraskevi Argiropoulou Efterpi Pavlidou , Evangelos Pavlou

Abstract

Heterotopia is defined as a cluster of normal neurons in abnormal locations in the cerebral hemispheres. This neuronal migration disorder occurs during the gestation. Patients with periventricular nodular heterotopias typically demonstrate the clinical triad of localization-related epilepsy, normal intelligence and an isolated form of dyslexia affecting reading fluency. The majority of patients are female. We describe the case of a 1year old female child, with normal psychomotor development with no clinical findings and a family history of Tuberous Sclerosis Complex (TSC). The investigations for TSC was negative, while the Magnetic Resonance Imaging revealed multiple irregular periventricular nodules suggestive for bilateral periventricular nodular heterotopia. The aim of this case presentation is to describe this rare neuronal migration disorder which in some cases mimics TSC.

Keywords

Children; MRI; Periventricular; Nodules

References

  • Kanatani S, Tabata H, Nakajima K. Neuronal migration in cortical development. J Child Neurol. 2005;20: 274–279.
  • Sisodiya SM. Malformations of cortical development: burdens and insights from important causes of human epilepsy. Lancet Neurol. 2004;3: 29-38.
  • Leventer RJ, Guerrini R, Dobyns WB. Malformations of cortical development and epilepsy. Dialogues Clin Neurosci. 2008;10: 47–62.
  • Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, et al. X-linked malformations of neuronal migration. Neurology. 1996;47: 331-3
  • Fox JW, Lamperti ED, Ekşioğlu YZ, Hong SE, Feng Y, Graham DA, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998;21:1315-1325.
  • Huttenlocher PR, Taravath S, Mojtahedi S. Periventricular heterotopia and epilepsy. Neurology. 1994;44:51-55.
  • Chang BS, Ly J, Appignani B, Bodell A, Apse KA, Ravenscroft RS, et al. Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. Neurology. 2005;64:799– 80
  • Hayden SA, Davis KA, Stears JC, Cole M. MR imaging of heterotopic gray matter. J Comput Assist Tomogr. 1987;11:878-879.
  • Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;32:657-668.
  • Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13:6246
  • Baskin HJ Jr. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol. 2008;38:9369
  • Cardoso C, Boys A, Parrini E, MignonRavix C, McMahon JM, Khantane S, et al. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q3-q15 deletion. Neurology. 2009;72:784-792.
  • Descartes M, Mikhail FM, Franklin JC, McGrath TM, Bebin M. Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia. Pediatr Neurol. 2011;45:2742

Year 2013, Volume: 5 , - , 24.05.2013

Anastasia Gkampeta , Dimitrios Cassimos Paraskevi Argiropoulou Efterpi Pavlidou , Evangelos Pavlou

Abstract

References

  • Kanatani S, Tabata H, Nakajima K. Neuronal migration in cortical development. J Child Neurol. 2005;20: 274–279.
  • Sisodiya SM. Malformations of cortical development: burdens and insights from important causes of human epilepsy. Lancet Neurol. 2004;3: 29-38.
  • Leventer RJ, Guerrini R, Dobyns WB. Malformations of cortical development and epilepsy. Dialogues Clin Neurosci. 2008;10: 47–62.
  • Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, et al. X-linked malformations of neuronal migration. Neurology. 1996;47: 331-3
  • Fox JW, Lamperti ED, Ekşioğlu YZ, Hong SE, Feng Y, Graham DA, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998;21:1315-1325.
  • Huttenlocher PR, Taravath S, Mojtahedi S. Periventricular heterotopia and epilepsy. Neurology. 1994;44:51-55.
  • Chang BS, Ly J, Appignani B, Bodell A, Apse KA, Ravenscroft RS, et al. Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. Neurology. 2005;64:799– 80
  • Hayden SA, Davis KA, Stears JC, Cole M. MR imaging of heterotopic gray matter. J Comput Assist Tomogr. 1987;11:878-879.
  • Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;32:657-668.
  • Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13:6246
  • Baskin HJ Jr. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol. 2008;38:9369
  • Cardoso C, Boys A, Parrini E, MignonRavix C, McMahon JM, Khantane S, et al. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q3-q15 deletion. Neurology. 2009;72:784-792.
  • Descartes M, Mikhail FM, Franklin JC, McGrath TM, Bebin M. Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia. Pediatr Neurol. 2011;45:2742
There are 13 citations in total.

Details

Primary Language English
Journal Section Case Reports
Authors

Anastasia Gkampeta

Dimitrios Cassimos This is me

Paraskevi Argiropoulou This is me

Efterpi Pavlidou

Evangelos Pavlou This is me

Publication Date May 24, 2013
Published in Issue Year 2013 Volume: 5

Cite

APA Gkampeta, A., Cassimos, D., Argiropoulou, P., Pavlidou, E., et al. (2013). Familiar periventricular nodular heterotopia in a 1year old female child. Journal of Pediatric Sciences, 5. https://doi.org/10.17334/jps.09419
AMA Gkampeta A, Cassimos D, Argiropoulou P, Pavlidou E, Pavlou E. Familiar periventricular nodular heterotopia in a 1year old female child. Journal of Pediatric Sciences. February 2013;5. doi:10.17334/jps.09419
Chicago Gkampeta, Anastasia, Dimitrios Cassimos, Paraskevi Argiropoulou, Efterpi Pavlidou, and Evangelos Pavlou. “Familiar Periventricular Nodular Heterotopia in a 1year Old Female Child”. Journal of Pediatric Sciences 5, February (February 2013). https://doi.org/10.17334/jps.09419.
EndNote Gkampeta A, Cassimos D, Argiropoulou P, Pavlidou E, Pavlou E (February 1, 2013) Familiar periventricular nodular heterotopia in a 1year old female child. Journal of Pediatric Sciences 5
IEEE A. Gkampeta, D. Cassimos, P. Argiropoulou, E. Pavlidou, and E. Pavlou, “Familiar periventricular nodular heterotopia in a 1year old female child”, Journal of Pediatric Sciences, vol. 5, 2013, doi: 10.17334/jps.09419.
ISNAD Gkampeta, Anastasia et al. “Familiar Periventricular Nodular Heterotopia in a 1year Old Female Child”. Journal of Pediatric Sciences 5 (February 2013). https://doi.org/10.17334/jps.09419.
JAMA Gkampeta A, Cassimos D, Argiropoulou P, Pavlidou E, Pavlou E. Familiar periventricular nodular heterotopia in a 1year old female child. Journal of Pediatric Sciences. 2013;5. doi:10.17334/jps.09419.
MLA Gkampeta, Anastasia et al. “Familiar Periventricular Nodular Heterotopia in a 1year Old Female Child”. Journal of Pediatric Sciences, vol. 5, 2013, doi:10.17334/jps.09419.
Vancouver Gkampeta A, Cassimos D, Argiropoulou P, Pavlidou E, Pavlou E. Familiar periventricular nodular heterotopia in a 1year old female child. Journal of Pediatric Sciences. 2013;5.