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Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G→C mutation

Published:September 22, 2008DOI:https://doi.org/10.1016/j.clinimag.2008.08.001

      Abstract

      Objective

      To identify the magnetic resonance (MR) features of a group of pediatric patients with Leigh syndrome (LS) caused by SURF1 gene 604G→C mutation.

      Materials and Methods

      Eight cases with definite diagnosis of SURF1 gene 604G→C mutation in our hospital were reviewed. Most cases presented typical symptoms in their infancy or childhood, with psychomotor regression, hypotonia, or eye movement disturbances. They all underwent cranial MR examinations after the onset. Their brain images were reviewed by an experienced neuroradiologist to determine the abnormalities.

      Results

      The data of our group showed heterogeneous neuroradiological findings: involvement of the brain stem and subthalamic nuclei was found in only three cases; basal ganglia abnormalities were detected in two cases, whereas demyelination was demonstrated in four cases; and brain atrophy existed invariably in the group.

      Conclusion

      The MR presentation in LS patients with SURF1 gene 604G→C mutation is variable. Maybe it is not appropriate to correlate a specific gene mutation with a homogenous radiological pattern.

      Keywords

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      References

        • Leigh D
        Subacute necrotizing encephalomyelopathy in an infant.
        J Neurol Neurosurg Psychiatry. 1951; 14: 216-221
        • Rahman S
        • Blok RB
        • Dahl HH
        • et al.
        Leigh syndrome: clinical features and biochemical and DNA abnormalities.
        Ann Neurol. 1996; 39: 343-351
        • Barkovich AJ
        • Good WV
        • Koch TK
        • Berg BO
        Mitochondrial disorders: analysis of their clinical and imaging characteristics.
        Am J Neuroradiol. 1993; 14: 1119-1137
        • Dimauro S
        • Hirano M
        Mitochondrial encephalomyopathies: an update.
        Neuromuscul Disord. 2005; 15: 276-286
        • Tiranti V
        • Hoertnagel K
        • Carrozzo R
        • et al.
        Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
        Am J Hum Genet. 1998; 63: 1609-1621
        • Tiranti V
        • Jaksch M
        • Hofmann S
        • et al.
        Loss-of-function mutations of SURF-1 are specially associated with Leigh syndrome with cytochrome c oxidase deficiency.
        Ann Neurol. 1999; 46: 161-166
        • Farina L
        • Chiapparini L
        • Uziel G
        • Bugiani M
        • Zeviani M
        • Savoiardo M
        MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.
        Am J Neuroradiol. 2002; 23: 1095-1100
        • Poyau A
        • Buchet K
        • Bouzidi MF
        • et al.
        Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
        Hum Genet. 2000; 106: 194-205
        • Savoiardo M
        • Zeviani M
        • Uziel G
        • Farina L
        MRI in Leigh syndrome with SURF1 gene mutation [letter].
        Ann Neurol. 2002; 51: 138-149
        • Rossi A
        • Biancheri R
        • Bruno C
        • et al.
        Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
        Am J Neuroradiol. 2003; 24: 1188-1191
        • Rahman S
        • Brown RM
        • Chong WK
        • et al.
        A SURF1 gene mutation presenting as isolated leukodystrophy.
        Ann Neurol. 2001; 49: 797-800
        • Arii J
        • Tanabe Y
        Leigh syndrome: serial MR imaging and clinical follow-up.
        Am J Neuroradiol. 2000; 21: 1502-1509
        • Scaglia F
        • Wong LJ
        • Vladutiu GD
        • Hunter JV
        Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects.
        Am J Neuroradiol. 2005; 26: 1675-1680