[Concordance of Kearns-Sayre syndrome and Klinefelter syndrome].
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.
Everding
A S
AS
Neuropädiatrische Abteilung der Universitäts-Kinderklinik, Münster.
Kurlemann
G
G
Gerding
H
H
Bömbelburg
T
T
Palm
D G
DG
Gullotta
F
F
Zierz
S
S
D000293:Adolescent; D001706:Biopsy; D005451:Fluorescein Angiography; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000175:diagnosis; D007713:Klinefelter Syndrome / Q000150:complications* / Q000175:diagnosis; D008297:Male; D009132:Muscles / Q000473:pathology; D009886:Ophthalmoplegia / Q000150:complications*
Konkordanz von Kearns-Sayre-Syndrom und Klinefelter-Syndrom.