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Case Reports
. 2018 Apr-Jun;13(2):224-228.
doi: 10.4103/jpn.JPN_76_17.

Neuroimaging Features of Tuberous Sclerosis Complex and Chiari Type I Malformation: A Rare Association

Gianpaolo Grilli  1 , Angelo P Moffa  1 , Francesco Perfetto  1 , Leonardo P Specchiulli  1 , Roberta Vinci  1 , Luca Macarini  1 , Luciano Zizzo  2
Affiliations
Case Reports

Neuroimaging Features of Tuberous Sclerosis Complex and Chiari Type I Malformation: A Rare Association

Gianpaolo Grilli et al. J Pediatr Neurosci. 2018 Apr-Jun.

Abstract

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.

Keywords: Chiari malformation I; computed tomography; hamartomatous lesions; magnetic resonance imaging; neuroimaging; tuberous sclerosis complex.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Updated diagnostic criteria for tuberous sclerosis complex 2012
Figure 2
Figure 2
Unenhanced axial computed-tomography scan of left frontal calcified tuber and calcified periventricular SENs
Figure 3
Figure 3
Axial T1WI of a left frontal tuber that appears iso- to hypointense. On axial FLAIR image, we observe a left frontal tuber that has a high signal as well as various white matter lesions that appear hyperintense. Blood-oxygen-level dependent (BOLD) sequences emphasize hypointense calcified nodules and hyperintense white matter migration lines
Figure 4
Figure 4
Small subependymal ventricular nodules slightly hyperintense and isointense on axial T1WI and hypointense in T2
Figure 5
Figure 5
Three-dimensional sagittal T1WI study reveals caudal dislocation of the cerebellum with the herniation of tonsils (Chiari malformation Type I) below the foramen magnum for 7.8 mm and associated hydrosyringomyelic cavity between the third and the seventh cervical vertebrae
Figure 6
Figure 6
Echocardiography reveals three well-circumscribed homogenous hyperechoic masses into the left ventricle apex, suggestive of cardiac rhabdomyomas
See this image and copyright information in PMC

References

    1. Hu S, Hu DY, Zhu WZ, Wang L, Wang Z. Tuberous sclerosis complex: Imaging characteristics in 11 cases and review of the literature. J Huazhong Univ Sci Technolog Med Sci. 2016;36:601–6. - PubMed
    1. Krishnan A, Kaza RK, Vummidi DR. Cross-sectional imaging review of tuberous sclerosis. Radiol Clin North Am. 2016;54:423–40. - PubMed
    1. DiMario FJ., Jr Brain abnormalities in tuberous sclerosis complex. J Child Neurol. 2004;19:650–7. - PubMed
    1. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics. 2008;28:e32. - PubMed
    1. Yates JR, Maclean C, Higgins JN, Humphrey A, le Maréchal K, Clifford M, et al. The Tuberous Sclerosis 2000 Study: Presentation, initial assessments and implications for diagnosis and management. Arch Dis Child. 2011;96:1020–5. - PubMed

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