Brain asymmetry in Newborns: key findings, case series and literature review.

Transcription

1 Brain asymmetry in Newborns: key findings, case series and literature review. Poster No.: C-1519 Congress: ECR 2015 Type: Educational Exhibit Authors: G. D'Apolito, R. Calandrelli, M. Caulo, M. Panfili, G. Di Lella, A. Pedicelli, T. Verdolotti, C. Colosimo ; Rome/IT, Chieti/IT Keywords: Seizure disorders, Education and training, Congenital, Education, Computer Applications-General, Comparative studies, MR, CT, Pediatric, Neuroradiology brain DOI: /ecr2015/C-1519 Any information contained in this pdf file is automatically generated from digital material submitted to EPOS by third parties in the form of scientific presentations. References to any names, marks, products, or services of third parties or hypertext links to thirdparty sites or information are provided solely as a convenience to you and do not in any way constitute or imply ECR's endorsement, sponsorship or recommendation of the third party, information, product or service. ECR is not responsible for the content of these pages and does not make any representations regarding the content or accuracy of material in this file. As per copyright regulations, any unauthorised use of the material or parts thereof as well as commercial reproduction or multiple distribution by any traditional or electronically based reproduction/publication method ist strictly prohibited. You agree to defend, indemnify, and hold ECR harmless from and against any and all claims, damages, costs, and expenses, including attorneys' fees, arising from or related to your use of these pages. Please note: Links to movies, ppt slideshows and any other multimedia files are not available in the pdf version of presentations. Page 1 of 29

2 Learning objectives The purpose of this educational exhibit is: to propose a systematic step-by-step approach to guide the correct diagnostic process in children with brain asymmetry; to offer some key findings to differentiate the hamartomatous malformations (hemimicrencephaly/hemimegalencephaly) from the cerebral hemiatrophies (congenital/ acquired), underlying the complementary role of MRI and CT. Normal 0 14 false false false IT JA X-NONE Images for this section: Fig. 1: Brain asymmetry in Newborns: key findings, case series and literature review. Page 2 of 29

3 Background Volume difference between hemispheres is the result of diseases that determine hemiatrophy (congenital/acquired) or dysplastic malformation of one hemisphere (hemimicrencephaly/hemimegalencephaly). In these conditions the clinical spectrum may be wide and not specific, infact patients may show severe epilepsy (often intractable), psychomotor retardation, hemiparesis; on the other hand the neuroimaging evaluation is mandatory for address the correct diagnosis and consequently for possible surgery planning AETIOLOGY of BRAIN ASIMMETRY - HEMIATROPHY - congenital: cerebral damage most likely occurs during intrauterine life; rare condition, usually related to syndromic conditions (SWS, ECCL, Silver's syndrome, linear nevus sebaceous syndrome ); - acquired: damage occurs in the perinatal period or later; more frequent condition, due to trauma, infection, vascular abnormalities, ischemic/hemorrhagic insults, periventricular leucoencephalopathy. -DYSPLASTIC MALFORMATIONS The pathological hemisphere shows hamartomatous hypertrophy due to a complex alteration of the cortical development. - increased volume of one hemisphere: hemimegalencephaly; - reduced volume of one hemisphere: hemimicrencephaly. Page 3 of 29

4 Fig. 2: Congenital cerebral hemiatrophy: Sturge Weber Syndrome.# University of Rome - IT Fig. 2: Congenital cerebral hemiatrophy: Sturge Weber Syndrome.# Page 4 of 29

5 Fig. 3: Congenital cerebral hemiatrophy: encephalo-cranio-cutaneous lipomatosis (ECCL). University of Rome - IT Fig. 3: Congenital cerebral hemiatrophy: encephalo-craniocutaneous lipomatosis (ECCL). Fig. 4: Acquired cerebral hemiatrophy. University of Rome - IT Fig. 4: Acquired cerebral hemiatrophy. Page 5 of 29

6 Fig. 5: Dysplastic malformations: hemimegalencephaly. University of Rome - IT Fig 5: Dysplastic malformations: hemimegalencephaly. Fig. 6: Dysplastic malformations: hemimicrencephaly - unilateral subcortical nodular heterotopia. Page 6 of 29

7 University of Rome - IT Fig 6: Dysplastic malformations: hemimicrencephaly - unilateral subcortical nodular heterotopia. Fig. 7: Dysplastic malformations: hemimicrencephaly - unilateral micropolygyria. University of Rome - IT Fig 7: Dysplastic malformations: hemimicrencephaly - unilateral micropolygyria. Page 7 of 29

8 Fig. 8: Dysplastic malformations: hemimicrencephaly - unilateral schizencephaly. University of Rome - IT Fig 8: Dysplastic malformations: hemimicrencephaly - unilateral schizencephaly. Images for this section: Page 8 of 29

9 Fig. 2: Congenital cerebral hemiatrophy: Sturge Weber Syndrome.# Fig. 3: Congenital cerebral hemiatrophy: encephalo-cranio-cutaneous lipomatosis (ECCL). Fig. 4: Acquired cerebral hemiatrophy. Page 9 of 29

10 Fig. 5: Dysplastic malformations: hemimegalencephaly. Fig. 6: Dysplastic malformations: hemimicrencephaly - unilateral subcortical nodular heterotopia. Page 10 of 29

11 Fig. 7: Dysplastic malformations: hemimicrencephaly - unilateral micropolygyria. Fig. 8: Dysplastic malformations: hemimicrencephaly - unilateral schizencephaly. Page 11 of 29

12 Findings and procedure details We propose a systematic step-by-step approach to guide the correct diagnostic process in children with hemispheres' asymmetry, illustrating a comprehensive set of MRI and CT key features to help in the diagnosis. Fig. 9: Differential diagnosis. University of Rome - IT Fig 9: Differential diagnosis. Page 12 of 29

13 Fig. 10: Flow-chart diagram. University of Rome - IT Fig 10: Flow-chart diagram. Page 13 of 29

14 Fig. 11: Differential diagnosis - children with brain asymmetry due to hemispheric malformations. University of Rome - IT Fig 11: Differential diagnosis - children with brain asymmetry due to hemispheric malformations. - Skull changes: asymmetry of head circumference (hemimacrocrania/hemimicrocrania) and structural bone alterations (thickened diploe and sinuses hyperpneumatization). Fig. 12: Skull changes. University of Rome - IT Fig 12: Skull changes. - Falx position: shifted toward the affected/unaffected side. Page 14 of 29

15 Fig. 13: Falx position. University of Rome - IT Fig 13: Falx position. - Parenchymal abnormalities: alterations of the cortical development, atrophy of white/ gray matter, gyral/subcortical white matter calcifications. Page 15 of 29

16 Fig. 14: Parenchimal abnormalities. University of Rome - IT Fig 14: Parenchimal abnormalities. Page 16 of 29

17 Fig. 15: Atrophy in dysplastic malformations. University of Rome - IT Fig 15: Atrophy in dysplastic malformations. - Ventricles and subarachnoid spaces: enlarged, normal, dysmorphic. Fig. 16: Ventricles and subarachnoid spaces - dysplastic malformations. University of Rome - IT Fig 16: Ventricles and subarachnoid spaces - dysplastic malformations. Page 17 of 29

18 Fig. 17: Ventricles and subarachnoid spaces - cerebral hemiatrophy. University of Rome - IT Fig 17: Ventricles and subarachnoid spaces - cerebral hemiatrophy. - Choroid plexus: enlarged, normal. - Post-contrast enhancement: absent, leptomeningeal, dural. - Deep venous occlusion: present, absent. Page 18 of 29

19 Fig. 18: Enhancement, choroid plexus and venous sinuses. University of Rome - IT Fig 18: Enhancement, choroid plexus and venous sinuses. - Associated findings: "arachnoid cyst", soft tumors. Page 19 of 29

20 Fig. 19: Soft tumors. University of Rome - IT Fig 19: Soft tumors. Images for this section: Page 20 of 29

21 Fig. 9: Differential diagnosis. Fig. 10: Flow-chart diagram. Page 21 of 29

22 Fig. 11: Differential diagnosis - children with brain asymmetry due to hemispheric malformations. Fig. 12: Skull changes. Page 22 of 29

23 Fig. 13: Falx position. Fig. 14: Parenchimal abnormalities. Page 23 of 29

24 Fig. 15: Atrophy in dysplastic malformations. Fig. 16: Ventricles and subarachnoid spaces - dysplastic malformations. Page 24 of 29

25 Fig. 17: Ventricles and subarachnoid spaces - cerebral hemiatrophy. Fig. 18: Enhancement, choroid plexus and venous sinuses. Page 25 of 29

26 Fig. 19: Soft tumors. Page 26 of 29

27 Conclusion Patients with cerebral asymmetry often present with aspecific symptoms, so differential diagnosis based on clinical characteristics may be very difficult. We propose a neuroradiological step-by-step approach to guide the correct diagnostic process in children with hemispheres' asymmetry. Skull abnormalities, falx position, parenchymal abnormalities, ventricles size, subarachnoid sulci among convolutions and contrast enhancement may be useful findings to address the diagnosis. CT and MRI are complementary neuroimaging techniques: - CT is the gold standard imaging to evaluate bony changes and calcifications; - MRI is the gold standard imaging to identify parenchymal abnormalities (delineation of giral deformity, degree of gray and white matters atrophy/hypertrophy) subarachnoidal spaces, size of ventricles and soft tumors - Contrast medium administration is useful to evaluate enhancement overlying the surface of the cortex and sinovenous occlusion; it may be helpful to differentiate SWS from ECCL. TAKE HOME MESSAGES: The pathological hemisphere is the start point to address the diagnosis in children with hemispheres' asymmetry. Look the controlateral hemisphere in children with dysplastic malformations and hemispheres' asymmetry. Personal information Department of Radiological Sciences and Bioimaging, Catholic University of Rome Largo A. Gemelli, , Rome, Italy. Page 27 of 29

28 References 1. Shirley MD, Tang H, Gallione CG, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med May 23;368(21): Manivannan N, Gokulanathan S, Ahathya RS, et al. Sturge-Weber syndrome. J Pharm Bioallied Sci Aug;4(Suppl 2):S Chandravanshi S, Encephalocraniocutaneous lipomatosis: A case report and review of the literature. Indian J Ophtalmol May;62(5): Flores-Sarnat L. Hemimegalencephaly: Part 1. Genetic, Clinical, and Imaging Aspects. J Child Neurol. May;17(5): Salamon N, Andres M, Chude DJ, et al. Contralateral hemimicrencephaly and clinicalpathological correlations in children with hemimegalencephaly. Brain Feb;129(Pt 2): Raghavendra S, Krishnamoorthy T, Ashalatha R, et al. Hemimegalencephalic appearance of normal hemisphere in unilateral heterotopia and absent corpus callosum. Epilepsy Behav Sep;9(2): Sato N, Yagishita A, Oba H, et al. Hemimegalencephaly: a study of abnormalities occurring outside the involved hemisphere. Am J Neuroradiol Apr;28(4): Guerrini R, Marini C. Genetic malformations of cortical development. Exp Brain Res Aug;173(2): Shiroishi MS, Jackson HA, Nelson MD Jr, et al. Contralateral hemimicrencephaly in neonatal hemimegalencephaly. Pediatr Radiol Nov;40(11): Zilkha A. CT of cerebral hemiatrophy. Am J Roentgenol Aug;135(2): Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update Brain May;135(Pt 5): Adachi Y, Walsh CA, Kawaguchi A, Yamashita F, Barkovich AJ. Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. Am J Neuroradiol Jun-Jul;32(6): Manoranjan B, Provias JP. Hemimegalencephaly: a fetal case with neuropathological confirmation and review of the literature. Acta Neuropathol Jul;120(1): Page 28 of 29

29 14. Thakur S, Thakur V, Sood RG, et al. Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature. Indian J Radiol Imaging Oct;23(4): Comi AM. Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies. Lymphat Res Biol. 2007;5(4): Page 29 of 29