The role of MRI in the diagnosis of hereditary spasticity paraplegia – A rare case report
Main Article Content
Abstract
Hereditary spastic paraplegia (HSP) is the term for a large group of genetic diseases characterized by progressive degeneration of axons of the long motor tract. The heterogeneity in genotype and phenotype is a characteristic feature of this group of diseases, easily leading to misdiagnosis with other diseases with similar symptoms, making the diagnosis and management of the disease more challenge. Therefore, magnetic resonance imaging (CHT) plays an important role in supporting diagnosis and differential diagnosis. At the same time, the neuroradiological signs on the MRI images are useful in directing genetic testing for HSP subtypes.
We would like to report a case diagnosed with HSP at Hanoi Medical University Hospital. A 28-year-old female patient was admitted to the hospital because of progressive weakness in the extremities, predominance of the lower extremities; Clinical examination revealed that the patient had symptoms of spastic quadriplegia symmetrically, accompanied by circular muscle dysfunction and cerebellar syndrome. On conventional MRI, there is a characteristic image of corpus callosum atrophy on the sagital sequences and the “ears of the lynx sign” on the axial FLAIR sequences. As a result, the patient was oriented to the genome sequencing test, resulting in a mutation in the SPG11 gene which is the most common mutation of the Hereditary spastic paraplegia.
Article Details
References
2. Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep. 2006;6(1):65-76. doi:10.1007/s11910-996-0011-1
3. Depienne C, Stevanin G, Brice A, Durr A. Hereditary spastic paraplegias: an update. Current Opinion in Neurology. 2007;20(6):674. doi:10.1097/WCO.0b013e3282f190ba
4. Rainier S, Sher C, Reish O, Thomas D, Fink JK. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol. 2006;63(3):445-447. doi:10.1001/archneur.63.3.445
5. Anheim M, Lagier-Tourenne C, Stevanin G, et al. SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol. 2009;256(1):104-108. doi:10.1007/s00415-009-0083-3
6. Heinzlef O, Paternotte C, Mahieux F, et al. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J Med Genet. 1998;35(2):89-93.
7. McMonagle P, Byrne P, Hutchinson M. Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia. Neurology. 2004;62(3):407-410. doi:10.1212/01.wnl.0000108629.04434.05
8. O’Neill BP, Swanson JW, Brown FR, Griffin JW, Moser HW. Familial spastic paraparesis: an adrenoleukodystrophy phenotype? Neurology. 1985;35(8):1233-1235. doi:10.1212/wnl.35.8.1233
9. Shaw-Smith CJ, Lewis SJG, Reid E. X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis. J Neurol Neurosurg Psychiatry. 2004;75(5):686-688. doi:10.1136/jnnp.2003.022970
10. Fink JK. Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis. Semin Neurol. 2001;21(2):199-207. doi:10.1055/s-2001-15265
11. Klebe S, Stevanin G, Depienne C. Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol (Paris). 2015;171(6-7):505-530. doi:10.1016/j.neurol.2015.02.017
12. França MC, D’Abreu A, Maurer-Morelli CV, et al. Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum. Mov Disord. 2007;22(11):1556-1562. doi:10.1002/mds.21480
13. Pensato V, Castellotti B, Gellera C, et al. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. Brain. 2014;137(Pt 7):1907-1920. doi:10.1093/brain/awu121
14. Pascual B, Bot ST de, Daniels MR, et al. “Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia. American Journal of Neuroradiology. 2019;40(1):199-203. doi:10.3174/ajnr.A5935
15. Schrander-Stumpel C, Legius E, Fryns JP, Cassiman JJ. MASA syndrome: new clinical features and linkage analysis using DNA probes. J Med Genet. 1990;27(11):688-692. doi:10.1136/jmg.27.11.688
16. Scuderi C, Fichera M, Calabrese G, et al. Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations. J Neurol Neurosurg Psychiatry. 2009;80(4):440-443. doi:10.1136/jnnp.2008.154807
17. Rubegni A, Battisti C, Tessa A, et al. SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. J Neurol Sci. 2017;375:198-202. doi:10.1016/j.jns.2017.01.069
18. Biancheri R, Ciccolella M, Rossi A, et al. White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. Neuromuscul Disord. 2009;19(1):62-65. doi:10.1016/j.nmd.2008.10.009
19. Svenstrup K, Giraud G, Boespflug-Tanguy O, et al. Hereditary spastic paraplegia caused by the PLP1 “rumpshaker mutation.” J Neurol Neurosurg Psychiatry. 2010;81(6):666-672. doi:10.1136/jnnp.2009.180315
20. Hedera P. Hereditary Myelopathies. Continuum (Minneap Minn). 2018;24(2, Spinal Cord Disorders):523-550. doi:10.1212/CON.0000000000000580
21. Landouré G, Zhu PP, Lourenço CM, et al. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat. 2013;34(10):1357-1360. doi:10.1002/humu.22378
22. Dard R, Meyniel C, Touitou V, et al. Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. Eur J Med Genet. 2017;60(12):639-642. doi:10.1016/j.ejmg.2017.08.015
23. Klebe S, Depienne C, Gerber S, et al. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain. 2012;135(Pt 10):2980-2993. doi:10.1093/brain/aws240
24. Synofzik M, Soehn AS, Gburek-Augustat J, et al. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis. 2013;8:41. doi:10.1186/1750-1172-8-41
25. Pedersen L, Trojaborg W. Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich’s ataxia and familial spastic paraplegia. Electroencephalogr Clin Neurophysiol. 1981;52(4):283-297. doi:10.1016/0013-4694(81)90057-2
26. Dan B, Bouillot E, Bengoetxea A, Cheron G. Effect of intrathecal baclofen on gait control in human hereditary spastic paraparesis. Neurosci Lett. 2000;280(3):175-178. doi:10.1016/s0304-3940(00)00778-3