Open AccessNeuroimaging features of tuberous sclerosis complex and Chiari type I malformation: A rare association
Author(s) -
Gianpaolo Grilli,
Antonio Moffa,
F. Perfetto,
Leonardo P Specchiulli,
Roberta Vinci,
Luca Macarini,
L Zizzo
Publication year - 2018
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_76_17
Subject(s) - medicine , tuberous sclerosis , magnetic resonance imaging , neuroimaging , fluid attenuated inversion recovery , hyperintensity , radiology , computed tomography , mri scan , foramen magnum , nuclear medicine , cerebellum , psychiatry
An 8-year-old girl was admitted during the night in our emergency department for an acute episode of seizures. The patient underwent computed-tomography (CT) brain scan (Toshiba ® Aquilion 64-TSX-101A/HC) and magnetic resonance imaging (MRI) brain scan (Philips® Achieva 1.5T). CT scan showed left frontal calcified nodules and calcified periventricular subependymal nodules. Subsequently, MRI evaluation revealed cortical and subcortical nodules that showed low signal with respect to the white matter on T1-weighted imaging sequences and high signal both in T2-weighted imaging sequences and in fluid-attenuated inversion recovery sequences. We also showed a herniation of cerebellar tonsils through the foramen magnum (Chiari malformation Type I [CMI]) with the associated hydrosyringomyelic cavity. Our report showed a rare association between tuberous sclerosis complex and CMI.