Table 2

Overview of organ involvement in patients with KSS spectrum

Patient ID18192021222324252627282930313233343536373839404142434445464748495051525354555657
Age at onset (years)0.41.01.51.52.02.24.05.05.56.07.07.48.08.09.810101011111112121212121212121313131314141414141415
Age at LFU (years)4.9132023143723251816192226193941356216482814674656311639515658234347295543435524
SexMMMFMMFMFMMFMMFFFMFFMFFMMFFFFFFFMFMFFMFM
CNS+++++++++++NDND+++NDND++ND+ND+ND+++
Muscle+++++++++++++++++++++++++++++++++++++++
Eye+++++++++++ND++++++ND+++++ND+++++++++++
Cardiac+++++++ND++++++++++++
Endocrine++++++++++ND+++
HearingND+++ND++++++++++ND++ND++NDNDNDNDND+++++ND
Gastrointestinal+ND++++ND+++NDND++NDNDNDND+
Haematological++ND
PsychiatricND+ND++ND++
Renal+++++NDNDND
Hepatic++NDNDND
  • Patients starting with Pearson syndrome are in table 1.

  • −, not present; +, present; CNS, central nervous system; F, female; ID, identification; KSS, Kearns-Sayre syndrome; LFU, last follow-up or death; M, male; ND, no data.