TY - JOUR
T1 - Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome
AU - Salviati, Leonardo
AU - Freehauf, Cindy
AU - Sacconi, Sabrina
AU - DiMauro, Salvatore
AU - Thoma, Janet
AU - Tsai, Anne Chun Hui
PY - 2004/7/15
Y1 - 2004/7/15
N2 - Mutations in SURF1, a gene involved in cytochrome-c oxidase (COX) assembly, cause COX deficiency and Leigh Syndrome (LS). Typical presentation is in the first year of life, with failure to thrive, psychomotor regression, ataxia, signs of brainstem dysfunction, and peripheral neuropathy. Progression is rapid and patients usually die of respiratory failure before 2 years of age. LS is characterized by symmetrical bilateral lesions in the brainstem and basal ganglia, revealed premortem as signal hyperintensities in T2-weighted MRI imaging. Here, we describe a 10-year-old boy with a novel mutation in SURF1 associated with an unusually mild clinical course. At 39 months, there were no MRI lesions, and a follow-up MRI at 8 years of age showed only brainstem and cerebellar involvement without lesions in the basal ganglia or subthalamic nuclei. These data confirm that the spectrum of MRI findings in LS is variable and that SURF1 mutations should be considered in patients with encephalomyopathy and COX deficiency even when early MRI findings are negative.
AB - Mutations in SURF1, a gene involved in cytochrome-c oxidase (COX) assembly, cause COX deficiency and Leigh Syndrome (LS). Typical presentation is in the first year of life, with failure to thrive, psychomotor regression, ataxia, signs of brainstem dysfunction, and peripheral neuropathy. Progression is rapid and patients usually die of respiratory failure before 2 years of age. LS is characterized by symmetrical bilateral lesions in the brainstem and basal ganglia, revealed premortem as signal hyperintensities in T2-weighted MRI imaging. Here, we describe a 10-year-old boy with a novel mutation in SURF1 associated with an unusually mild clinical course. At 39 months, there were no MRI lesions, and a follow-up MRI at 8 years of age showed only brainstem and cerebellar involvement without lesions in the basal ganglia or subthalamic nuclei. These data confirm that the spectrum of MRI findings in LS is variable and that SURF1 mutations should be considered in patients with encephalomyopathy and COX deficiency even when early MRI findings are negative.
KW - Brainstem and cerebellar involvement
KW - COX deficiency
KW - Leigh Syndrome
KW - SURF1
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U2 - 10.1002/ajmg.a.30073
DO - 10.1002/ajmg.a.30073
M3 - Article
C2 - 15214016
AN - SCOPUS:4444311185
SN - 1552-4825
VL - 128 A
SP - 195
EP - 198
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -