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New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency
Author(s) -
DionisiVici C.,
Ruitenbeek W.,
Fariello G.,
Bentlage H.,
Wanders R. J. A.,
Schägger H.,
Bosman C.,
Piantadosi C.,
Sabetta G.,
Bertini E.
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410420419
Subject(s) - macrocephaly , gliosis , cardiomyopathy , mitochondrial myopathy , encephalopathy , pathology , medicine , biology , heart failure , mitochondrial dna , genetics , gene
Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephaly and evolving to extensive brain destruction. Light microscopy of the lesions showed extensive small‐vessel proliferation and gliosis. A distinct deficiency of complex I of mitochondrial respiratory chain was established in cultured fibroblasts, skeletal muscle, and heart muscle. Specific lack of complex I protein was demonstrated by two‐dimensional gel electrophoresis.