Concordance of Kearns-Sayre syndrome and Klinefelter syndrome
Everding, A.S.; Kurlemann, G.; Gerding, H.; Bömbelburg, T.; Palm, D.G.; Gullotta, F.; Zierz, S.
Monatsschrift Kinderheilkunde Organ der Deutschen Gesellschaft für Kinderheilkunde 136(10): 698-700
1988
ISSN/ISBN: 0026-9298 PMID: 3237225 Document Number: 319053
In the last years the Kearns-Sayre-Syndrome has been defined with the typical trias of chronic external ophthalmoplegia, pigmentary retinal dystrophy and cardiac conduction defects. Today it is no longer believed to present an entity but a variant of the multiple plussymptoms of the ophthalmoplegia-plus group. In pediatrics the existence of this clinical disorder is not yet well acknowledged. The case of a 16-year-old patient is used as an example for the impressive clinical symptoms and the involvement of several organs in this clinical disorder. The combination with a Klinefelter-Syndrome has not previously been reported.