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Respiratory chain deficiency in a female with Aicardi‐Goutières syndrome
Author(s) -
MD; Christine Barnérias,
Giurgea Irina,
HertzPannier Lucie,
BahiBuisson Nadia,
Boddaert Nathalie,
PhD; Pierre Rustin,
Rotig Agnés,
Desguerre Isabelle,
Munnich Arnold,
Lonlay Pascale
Publication year - 2006
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1017/s001216220600048x
Subject(s) - respiratory chain , mitochondrial respiratory chain , medicine , pathology , encephalopathy , lymphocytosis , basal ganglia , cerebrospinal fluid , white matter , respiratory system , mitochondrial disease , endocrinology , mitochondrion , magnetic resonance imaging , biology , mitochondrial dna , central nervous system , biochemistry , radiology , gene , microbiology and biotechnology
Aicardi‐Goutières syndrome (AGS) is an early‐onset progressive encephalopathy characterized by calcifications of the basal ganglia, white matter abnormalities, chronic cerebrospinal fluid (CSF) lymphocytosis, and/or a raised level of CSF interferon (INF)‐α. We report a female with mitochondrial respiratory chain deficiency fulfilling the criteria of AGS. Disease onset was in the first year of age with seizures and psychomotor regression. To date, at 4 years of age, she presents a severe encephalopathy, increased INF‐? in the CSF, and calcifications of basal ganglia on computerized tomography. Cerebral magnetic resonance imaging showed bilateral and symmetric hypersignal of the posterior white matter. A complex I deficiency of the mitochondrial respiratory chain was found in skeletal muscle, which was associated with a complex IV deficiency in cultured skin fibroblasts. The question of whether this oxidative phosphorylation deficiency is primary or secondary in AGS is open to debate. We suggest giving consideration to systematic evaluation of the mitochondrial respiratory chain in skeletal muscle and skin fibroblasts of other AGS patients.