title: New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.
abstract: 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.
authors.affiliation: Bambino Gesù Hospital, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: G
authors.initials: G
authors.lastname: Fariello
authors.forename: H
authors.initials: H
authors.lastname: Bentlage
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: H
authors.initials: H
authors.lastname: Schägger
authors.forename: C
authors.initials: C
authors.lastname: Bosman
authors.forename: C
authors.initials: C
authors.lastname: Piantadosi
authors.forename: G
authors.initials: G
authors.lastname: Sabetta
authors.forename: E
authors.initials: E
authors.lastname: Bertini
mesh_terms: D009202:Cardiomyopathies / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D015180:Electrophoresis, Gel, Two-Dimensional; D005192:Family Health; D017809:Fatal Outcome; D005347:Fibroblasts / Q000201:enzymology; D006257:Head / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000378:metabolism; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D018485:Muscle Fibers, Skeletal / Q000201:enzymology; D018482:Muscle, Skeletal / Q000166:cytology / Q000201:enzymology; D009206:Myocardium / Q000166:cytology / Q000201:enzymology; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000172:deficiency* / Q000235:genetics; D009679:Nuclear Family; D010641:Phenotype; D019289:Pyruvic Acid / Q000378:metabolism
chemical_list: D019344:Lactic Acid; D019289:Pyruvic Acid; D016660:NAD(P)H Dehydrogenase (Quinone)