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Mitochondrial DNA deletion in an 8‐year‐old boy with pearson syndrome
Author(s) -
Baerlocher K. E.,
Feldges A.,
Weissert M.,
Simonsz H. J.,
Rötig A.
Publication year - 1992
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02435968
Subject(s) - pediatrics , medicine , citation , library science , computer science
Pearson syndrome (PS) (McKusick 260560) is an often fatal disease of early childhood. We describe an 8-year-old boy with PS, who showed the typical haematological symptoms in early infancy. During his later course, increased CSF protein, ptosis and retinitis pigmentosa pointed to the Kearns-Sayre syndrome, another mtDNA deletion disorder. Analysis of leukocyte mtDNA revealed a 5.5-kb mtDNA deletion similar to that found in at least five other patients with PS (Rotig et al 1990)