An Approach to Cystic White Matter Diseases of the Paediatric Brain

Transcription

1 An Approach to Cystic White Matter Diseases of the Paediatric Brain Poster No.: C-0239 Congress: ECR 2017 Type: Educational Exhibit Authors: S. Culleton, J. P. Donnellan, E. Laffan, I. Robinson, E. L Twomey, S. Ryan ; Galway/IE, Dublin/IE Keywords: Cysts, Diagnostic procedure, MR, CT, Pediatric, Neuroradiology brain, CNS DOI: /ecr2017/C-0239 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 20

2 Learning objectives There is a wide range of pathologies that can affect the white matter of the paediatric brain. This leads to a very large differential including acquired and inherited disorders. However, the presence of white matter cysts can help to significantly refine the differential and reach a diagnosis. The aim of this presentation is to present a systematic approach to cystic white matter diseases. A number of important cystic white matter diseases are illustrated. Background Paediatric white matter disease can be complex and difficult to interpret. There are many leukodystrophies that may be observed on paediatric cerebral imaging cysts. However, the presence of cystic white matter change can narrow the differential to a number of specific entities. Intracranial cysts may pose a diagnostic dilemma however, identifying the distribution of the cysts along with other features such as calcification or enhancement can help to narrow the differential. A systematic approach to white matter cysts seen on paediatric imaging is presented using an algorithm. A number of important white matter cystic disorders and their imaging features are illustrated. Findings and procedure details A systematic approach to the differential of white matter cystic changes is presented in Figure 1. As a first step paediatric patients may be divided based on head size into normocephaly, microcephaly and macrocephaly. Page 2 of 20

3 Fig. 1 References: Dr Sinéad Culleton Microcephaly This group of paediatric patients may be further subdivided based on the presence or absence of calcification on cerebral imaging. Those without calcification may represent cystic periventricular leukomalacia (PVL). The presence of calcification can indicate cytomegalovirus infection (CMV). Normocephaly Again the presence of calcification in this group of paediatric patients may help in the differential diagnosis. Calcification may indicate Aicardi-Goudiere. In the absence of calcification patients may be further classified as having ring-enhanicng or no ring-enhancing lesions. Those with ring-enhancement may be due to a cerebral abscess. The absence of both ring enhancing lesions and calcification may be due to multi-cystic encephalomalacia. Page 3 of 20

4 Macrocephaly In this group the presence of an associated bone dysplasia is an important feature. The presence of an associated bone dysplasia may indicate mucopolysaccharidoses. The absence of a bone dysplasia may be due to megalencephalic leukoencelopathy. Microcephaly CMV CMV is the most common intra-uterine infection. Imaging features include mircocephaly, ventriculomegaly, white matter disease, neuronal migrational disorders and intracranial 1 calcification. Calcification is predominantly peri-ventricular. Periventricular cysts may be seen. The presence of white matter disease and anterior 1,2 temporal cysts is very specific for CMV. Cyst may be also seen in the frontoparietal white matter and adjacent to the occipital poles of the lateral ventricles Figure 2,3. Periventricular leukomalacia Periventricular leukomalacia (PVL) is also known as white matter injury of prematurity affecting the periventricular areas, commonly leading to cavitation and periventricular cysts, Figure 4,5. Bilateral cysts in the parieto-occipital region and larger than 10 mm are highly predictive of developing cerebral palsy with normal neurological development 3. Small anterior cysts may be associated 3,4. Normocephaly Multi-cystic encephalomalacia Variant of encephalomalacia seen in neonates. Numerous loculated pseudocysts within the white matter and cortex Figure 6,7. May be due to neonatal hypoxic-ischaemic encephalopathy usually as a consequence of asphyxia. Similar appearance may be seen in neonatal cerebral ischaemic infaction, most commonly involving the left middle cerebral 5 artery. Aicardi-Goutieres syndrome Page 4 of 20

5 Aicardi-Goutieres is a rare autosomal recessive disorder and there is intracranial calcifications in association with cerebral atrophy and white matter abnormalities, Figure 8,9. Intracranial cysts are most commonly midline inter hemispheric. Cysts may also be intraventricular, parenchymal or extra-axial. These are associated with agenesis of the corpus callsoum, colpocephaly, posterior fossa abnormalities, grey matter heterotopia and asymmetry of the cerebral hemispheres. Macrocephaly Mucopolysaccharidoses These are a heterogenous group of inherited lysosomal storage disorders. Cystic lesions are one of the commonest imaging findings and are due to enlarged Virchow-Robin perivascular space. These may be due to glycosaminoglycan storage around the vessels. May be patchy or diffuse. Cysts may also occur in the corpus callosum, basal ganglia, subcortical white matter, thalami and brain stem. Usually small ranging from 2-8 mm in 5-7 size. Other abnormalities include atrophy, ventriculomegaly, white and grey matter signal abnormalities. Megalencephalic leucoencephaly with cysts This is a rare autosomal recessive disorder characterised by macrocephaly with cerebral leucoencephaly. MRI shows a megalencephalic brain, swelling of the cerebral white matter with bilateral cystic spaces of CSF intensity, Figure 10,11. Cysts are subcortical and most commonly seen in the anterior temporal and frontoparietal lobes. The cysts enlarge over time and increase in size and number with increasing age 8,9. Images for this section: Page 5 of 20

6 Fig. 1 Page 6 of 20

7 Fig. 2: CMV: CT brain non-contrast of a one week old female infants with periventricular calcification and bilateral temporal lobe cysts. Page 7 of 20

8 Fig. 3: CMV: MRI brain T2 of a one week old female infants with periventricular calcification and bilateral temporal lobe cysts. Page 8 of 20

9 Fig. 4: PVL: MRI brain T2 of 4 month male infant with peri-venticular white matter cysts. Page 9 of 20

10 Fig. 5: PVL: 4 month male infant with peri-venticular white matter cysts. Page 10 of 20

11 Fig. 6: MRI brain T2: Three year old boy with multiple cysts in the left MCA distribution. Page 11 of 20

12 Fig. 7: MRI brain FLAIR: Three year old boy with multiple cysts in the left MCA distribution Page 12 of 20

13 Fig. 8: Aicardi-Goutieres: MRI brain T2 of a three year old boy with bilateral temporal lobe cysts Page 13 of 20

14 Fig. 9: Aicardi-Goutieres: Flair imaging showing bilateral temporal lobe cysts. Page 14 of 20

15 Fig. 10: Mucopolysaccharidoses: MRI brain T2 showing periventricular cysts and cysts in basal ganglia. Page 15 of 20

16 Fig. 11: Mucopolysacccharidoses: periventricular cysts and cysts in basal ganglia. Page 16 of 20

17 Fig. 12: Megalencephalic leukoencephalopathy with subcortical cysts: MRI Brain T2 image showing bilateral temporal lobe cysts. Page 17 of 20

18 Fig. 13: Megalencephalic leukoencephalopathy with subcortical cysts: MRI brain T2 image with bilateral frontal lobe cysts. Page 18 of 20

19 Conclusion White matter cystic changes can be caused by a wide range of pathology ranging from inherited, ischaemic and infectious causes. Using other associated imaging and clinical findings such as head size, intracranial calcifications and distribution of cysts may help to identify the correct diagnosis where possible. Personal information References 1. Fink K, Thapa M, Ishak G, Pruthi S. Neuroimaging of pediatric central nervous system cytomegalovirus infection. RadioGraphics 2010; 30: Van der Knaap MS, Vermeulen G, Barkhof F, Hart AAM, Loeber JG, Weel JFL. Pattern of white matter abnormalities at MR imaging: use of polymerase chain reaction testing of Guthrie cards to link pattern with congenital cytomegalovirus infection. Radiology 2004;230(2): Epelman M, Daneman A, Blaser S, Ortiz-Neira C et al. Differential diagnosis of intracranial cystic lesions at head US: Correlation with CT and MR imaging. RadioGraphics 2006; 26: Resch B, Vollaard E, Maurer U, Haas J, Rosegger H, Muller W. Risk factors and determinants of neurodevelopmental outcome in cystic periventricular leucomalacia. Eur J Pediatr 2000;159: Zafeiriou DI, Batzios SP. Brain and spinal mucopolysacchardoses: A review. AJNR July MR imaging findings in 6. Matheus MG, Castillo M, Smith JK, et al. Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 2004;46: Johnson MA, Desai S, Hugh-Jones K, et al. Magnetic resonance imaging of the brain in Hurler syndrome. AJNR Am J Neuroradiol 1984;5: Tu Y-F, Chen C-Y, Huang C-C, Lee C-S. Vacuolating megalencephalic leukoencephalopathy with mild clinical course validated by diffusion tensor imaging and MR spectroscopy. AJNR : Page 19 of 20

20 9. Yakinci C, Soylu H, Kutlu NO, Sener RN. Leukoencephalopathy with a mild clinical course: a case report. Comput Med Imaging Graph 1999;23: Page 20 of 20