Table 3.
Frequency of clinical features in 4 patients and previously reported patients with PS.
| Clinical features | Patients affected, n (%) | ||
| Index case | Reported case | Reference | |
| Lactic acidemia | 4/4 (100%) | 10/33 (30%) | Manea et al[11] |
| Anemia | 4/4 (100%) | 32/33 (97%) | Manea et al[11] |
| Developmental delay | 3/3 (100%) | 8/11 (73%) | Broomfield et al[2] |
| Thrombocytopenia/neutropenia | 3/4 (75%) | 17/21 (81%) | Rotig et al[15] |
| Adrenal insufficiency | 2/4 (50%) | 2/11 (18%) | Farruggia et al[4] |
| Renal tubulopathy | 2/4 (50%) | 9/21 (43%) | Rotig et al[15] |
| Hypoglycemia | 2/4 (50%) | 5/33 (15%) | Manea et al[11] |
| Pancreatic insufficiency | 2/4 (50%) | 10/55 (18%) | Hsiu-Fen Lee et al[12] |
| Liver involvement | 1/4 (25%) | 7/21 (33%) | Rotig et al[15] |
| Ocular involvement | 1/4 (25%) | 6/11 (55%) | Farruggia et al[4] |
| Hypothyroidism | 1/4 (25%) | 1/11 (9.1%) | Broomfield et al[2] |
| Diabetes mellitus | 0/4 (0%) | 2/11 (18%) | Farruggia et al[4] |
| Heart involvement | 0/4 (0%) | 3/11 (27%) | Broomfield et al[2] |
The preceding and subsequent numbers refer to the number of affected and total patients, respectively. For example, 1/4 means that one in four patients showed the feature.