Document Detail

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.
MedLine Citation:
PMID:  15214016     Owner:  NLM     Status:  MEDLINE    
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.
Leonardo Salviati; Cindy Freehauf; Sabrina Sacconi; Salvatore DiMauro; Janet Thoma; Anne Chun-Hui Tsai
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  128A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Jul 
Date Detail:
Created Date:  2004-06-23     Completed Date:  2005-01-12     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  195-8     Citation Subset:  IM    
Copyright Information:
Copyright 2004 Wiley-Liss, Inc.
Department of Neurology, Columbia University College of Physicians & Surgeons, New York, New York, USA.
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MeSH Terms
Base Sequence
Brain / pathology
Brain Diseases, Metabolic, Inborn / genetics*
Child, Preschool
DNA Mutational Analysis
Electron Transport
Leigh Disease / genetics*
Magnetic Resonance Imaging
Membrane Proteins
Mitochondrial Proteins
Molecular Sequence Data
Polymerase Chain Reaction
Proteins / genetics*
Grant Support
Reg. No./Substance:
0/Membrane Proteins; 0/Mitochondrial Proteins; 0/Proteins; 0/Surf-1 protein

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