Diagnostic approach to childhood-onset cerebellar atrophy: retrospective study of 111 patients

ZHAO Fei1; XIAO Jiang-xi2; XIE Sheng3

Journal of China Clinic Medical Imaging ›› 2018, Vol. 29 ›› Issue (6) : 381-386.

ZHAO Fei1, XIAO Jiang-xi2, XIE Sheng3

Author information +

History +

Abstract

Objective: To propose a neuroradiological diagnostic approach for childhood-onset cerebellar atrophy. Method: MR images of 111 patients with cerebellar atrophy were analyzed(62 males, 49 females). Hierarchical clustering of patients on the basis of their MRI item profile was performed. Result: Diagnosis was established in 76 patients. Mitochondrial diseases were the most common, followed by NCL and INAD. Hierarchical clustering result showed Cluster 1 mainly contained mitochondrial diseases, Cluster 2 mainly included INAD and NCL, Cluster 3 mainly included wilson disease, Cluster 4 mainly included Cockayne syndrome and Cluster 5 mainly includied ALD, MLD and Menks disease. Other diseases were comprised in Cluster 6. Conclusion: The diagnostic approach to childhood-onset cerebellar atrophy requires integration of neuroimaging results with clinical information. The use of neuroimaging pattern recognition is extremely useful in differential diagnoses and in the selection of further investigations.

Key words

Cerebellar diseases / Atrophy / Child / Magnetic resonance imaging

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

ZHAO Fei1, XIAO Jiang-xi2, XIE Sheng3. Diagnostic approach to childhood-onset cerebellar atrophy: retrospective study of 111 patients[J]. Journal of China Clinic Medical Imaging. 2018, 29(6): 381-386

References

[1]Valanne L, Ketonen L, Majander A, et al. Neuroradiologic findings in children with mitochondrial disorders[J]. Am J Neuroradiol, 1998, 19(2): 369-377.
[2]Barkovich A, Good W, Koch T, et al. Mitochondrial disorders: analysis of their clinical and imaging characteristics[J]. Am J Neuroradiol, 1993, 14(5): 1119-1137.
[3]Sue CM, Crimmins DS, Soo YS, et al. Neuroradiological features of six kindreds with MELAS tRNAlLeuA3243G point mutation: implications for pathogenesis[J]. Neurol Neurosurg Psychiatry, 1998, 65(2): 233-240.
[4]Matthews P, Tampieri D, Berkovich S, et al. Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome[J]. Neurology, 1991, 41(7): 1043-1046.
[5]Jabado N, Concannon P, Gatti RA. Ataxia-telangiectasia, a neurodegenerative disorder[M]//Klockgether T, Robertson NP, Muszaimi MB, et al. Handbook of Ataxia Disorders. New York: Marcel DEKKER, 2000: 163-190.
[6]Perlman S, Becker-Catalina S, Gatti R. Ataxia-telangiectasia: diagnosis and treatment[J]. Semin Pediatr Neurol, 2003, 10(3): 173-182.
[7]Farina L, Yggetti C, Ottolini A, et al. Ataxia-telangiectasia: MR and CT findings[J]. J Comput Assist Tomogr, 1994, 18(5): 724-727.
[8]Tavani F, Zimmerman RA, Berry GT, et al. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI[J]. Neuroradiology, 2003, 45(5): 315-319.
[9]Ginestroni A, Della Nave R, Tessa C, et al. Brain structural damage in spinocerebellar ataxia type 1: A VBM study[J]. J Neurol, 2008, 255(8): 1153-1158.
[10]Luks C, Schols L, Bellenberg B, et al. Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: a voxel-based morphometry study[J]. Neuro Sci Lett, 2006, 408(3): 230-235.
[11]Koskinen T, Valanne L, Ketonen LM, et al. (1995)Infantile-onset spinocerebellar ataxia: MRI and CT findings[J]. Am J Neuroradiol, 1995, 16(7): 1427-1433.
[12]Farina L, Nardocci N, Bruzzone MG, et al. Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients[J]. Neuroradiology, 1999, 41(5): 376-380.
[13]Biancheri R, Rossi A, Alpigiani G, et al. Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy due to PLA2G6 mutation[J]. Eur J Paediatr Neurol, 2007, 11(3): 175-177.
[14]Mader I, Krageloh-Mann I, Seeger U, et al. Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy[J]. Neuropediatrics, 2001, 32(2): 97-100.
[15]Harting I, Blaschek A, Wolf NI, et al. T2-hyperintense cerebellar cortex in Marinesco-Sj?觟gren syndrome[J]. Neurology, 2004, 63(12): 2448-2449.
[16]Georgh NA, Snow RD, Brogdon BG, et al. Neuroradiologic findings in Marinesco-Sj?觟gren syndrome[J]. Am J Neuroradiol, 1998, 19(2): 281-283.
[17]Sinha S, Taly AB, Ranishankar S, et al. Wilson’s disease: cranial MRI observations and clinical correlation[J]. Neuroradiology, 2006, 48(9): 613-621.
[18]Starosta-Rubinstein S, Young AB, Kluin K, et al. Clinical assessment of 31 patients with Wilson’s disease; Correlation with structural changes on magnetic rensonance imaging[J]. Arch Neurol, 1987, 44(4): 365-370.
[19]Imiya M, Ishikawa K, Matsushima H, et al. MR of the base of the pons in Wilson’s disease[J]. Am J Neuroradiol, 1992, 13(3): 1009-1012.
[20]Nazer H, Brismar J, AI-Kawi MZ, et al. Magnetic resonance imaging of the brain in Wilson’s disease[J]. Neuroradiology, 1993, 35(2): 130-133.
[21]Prayer L, Wimberger D, Karamer J, et al. Cranial MRI in Wilson’s disease[J]. Neuroradiology, 1990, 32(3): 211-214.
[22]Dunne E, Hyman NM, Huson SM, et al. A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration[J]. Ann Neurol, 1999, 45(5): 652-655.
[23]Marler JR, O’Neill BP, Forbes GS, et al. Adrenoleukodystrophy (ALD): clinical and CT features of a childhood varian[J]. Neurology, 1983, 33(9): 1203-1205.
[24]Kim JH, Kim HJ. Childhood X-linked adrenoleukodustrophy: Clinical pathologic Overview an MR Imaging Manifestations at Initial Evaluation and Follow up[J]. RadioGraphics, 2005, 25(3): 619-631.
[25]Kurihara M, Kumagai K, Yagishita S, et al. Adrenoleuko-myeloveuroplathy presenting as cerebellar ataxia in a young child: a probable variant of adrenoleukodystrophy[J]. Brain Dev, 1993, 15(5): 377-380.
[26]Sonninen P, Autti T, Varho T, et al. Brain involvement in Salla disease[J]. Am J Neuroradiol, 1999, 20(3): 433-443.
[27]D’Incerti L. MRI in neuronal ceroid lipofuscinosis[J]. Neurol Sci, 2000, 21(3 Suppl): S71-73.
[28]Seitz D, Grodd W, Schwab A, et al. MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinoses[J]. Am J Neuroradiology, 1998, 19(7): 1373-1377.
[29]Vanhanen SL, Raininko R, Autti T, et al. MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis, 2: MRI findings in 21 patients[J]. J Child Neurol, 1995, 10(6): 444-450.
[30]Autti T, Raininko R, Vanhanen SL, et al. MRI of neuronal ceroid lipofuscinosis, I: cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis[J]. Neuroradiology, 1996, 38(5): 476-482.
[31]Weidenheim KM, Dickson DW, Tapin I. Neuropathology of Cockayne syndrome: evidence for impaired development, premature aging, and neurodegeneration[J]. Mech Ageing Dev, 2009, 130(9): 619-636.
[32]Boltshauser E, Yalcinkaya C, Wichmann W, et al. MRI in Cockayne syndrome type I[J]. Neuroradiology, 1989, 31(3): 276-277.
[33]Adachi M, Kawanami T, Ohshima F, et al. MR findings of cerebral white matter in Cockayne syndrome[J]. Magn Reson Med Sci, 2006, 5(1): 41-45.
[34]Sener RN. Pelizaeus-Merzbacher disease: diffusion MR imaging and proton MR spectroscopy findings[J]. J Neuroradiol, 2004, 31(2): 138-141.
[35]Seitelberger F. Neuropathology and genetics of Pelizaeus-Merzbacher disease[J]. J Neurosci, 1993, 5(3): 267-273.
[36]Van der Knaap MS, Valk J. The reflection of histology in MR imaging of Pelizaeus-Merzbacher disease[J]. Am J Neuroradiol, 1989, 10(1): 99-103.
[37]Kim TS, Kim IO, Kim WS, et al. MR of childhood metachromatic leukodystrophy[J]. Am J Neuroradiol, 1997, 18(4): 733-738.
[38]Chu BC, Terae S, Takahashi C, et al. MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a reiew[J]. Neuroradiology, 1999, 41(10): 759-764.
[39]Geller TJ, Pan Y, Martin DS. Early neuroradiologic evidence of degeneration in Menkes’ disease[J]. Pediatr Neurol, 1997, 17(3): 255-258.
[40]Streifler JY, Gomish M, Hadar H, et al. Brain imaging in late-onset GM2 gangliosidosis[J]. Neurology, 1993, 430(10): 2055-2058.
[41]Kroll RA, Pagel MA, Roman-Goldstein S, et al. White matter changes associated with Feline GM2 gangliosidosis: Correlation of MR findings with pathologic and ultrastructural abnormalities[J]. Am J Neuroradiol, 1995, 16(6): 1219-1226.