Table 1

Clinical features of 17 patients with Pearson syndrome

IDAge at disease onset (years)SexAge at anaemia onset (years)Age at LFU or death (years)Haematological characteristicsEPIOther organ involvement
10.0F0.05.8Pancytopaenia+Muscle, CNS, endocrine, gastrointestinal, renal, hepatic
20.0F0.03.5*Anaemia, not sideroblasticMuscle, CNS, endocrine, gastrointestinal, renal
30.3M0.35.3*Pancytopaenia with sideroblastic anaemia+Renal, hepatic
40.3F0.412.5*Pancytopaenia with sideroblastic anaemia+Muscle, CNS, ophthalmological, cardiac, hearing, endocrine, gastrointestinal, hepatic
50.3F0.33.3*Pancytopaenia with sideroblastic anaemiaNDHepatic
60.4F0.432.3*AnaemiaMuscle, CNS, ophthalmological, cardiac, hearing, endocrine
70.5F0.519.0Pancytopaenia with sideroblastic anaemiaNDMuscle, CNS, ophthalmological, cardiac, hearing
80.7F0.74.0*Pancytopaenia with sideroblastic anaemiaNDMuscle, gastrointestinal, renal
90.7M0.76.2Pancytopaenia with sideroblastic anaemia+Muscle, CNS, ophthalmological, endocrine, gastrointestinal, renal
100.8M0.820.2Anaemia and leucopeniaMuscle, CNS, ophthalmological, cardiac, hearing, endocrine
110.8M0.83.7*Pancytopaenia with sideroblastic anaemiaMuscle, CNS, endocrine
120.9M0.96.2PancytopaeniaMuscle, CNS, ophthalmological, endocrine, gastrointestinal, hepatic
131.0F1.029.3*Pancytopaenia, not sideroblasticMuscle, CNS, ophthalmological, cardiac, hearing, endocrine, gastrointestinal, hepatic
141.9F1.99.8*Sideroblastic anaemiaMuscle, CNS, ophthalmological, hearing, endocrine, gastrointestinal, renal
152.3F5.09.8Sideroblastic anaemia and thrombocytopaenia+Muscle, CNS, ophthalmological, cardiac, hearing, endocrine, gastrointestinal, renal, hepatic
162.8F5.310.0*Anaemia and thrombocytopaeniaNDMuscle, CNS, ophthalmological, hearing, endocrine, gastrointestinal, renal, hepatic
175.9F5.929.0Anaemia, not sideroblasticMuscle, CNS, ophthalmological, cardiac, hearing, endocrine, gastrointestinal, renal
  • *Deceased.

  • −, not present; +, present; CNS, central nervous system; EPI, exocrine pancreatic insufficiency; F, female; ID, identification; LFU, last follow-up; M, male; ND, no data.