Familiar periventricular nodular heterotopia in a 1year old female child

Anastasia Gkampeta, Dimitrios Cassimos, Paraskevi Argiropoulou, Efterpi Pavlidou, Evangelos Pavlou
3.701 943


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.


Children; MRI; Periventricular; Nodules

Full Text:



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