Clinical and haematological findings of the patients
| Patient | Sex | Age at presentation | Current age (years) | Findings at the time of diagnosis | Course and outcome | ||||
| General | Hearing | Eyesight | Haemoglobin (g/dl) | PLT (×109/l) | |||||
| 261002 | M | 4 m | 6 | HSM, MC, FTT | Intact | Unilateral visual loss | 6.8 | 126 | Successful BMT at 1 year |
| 4321 | M | 1 m | 4 | HSM | Intact | Unilateral visual loss | 9.7 | 54 | Successful BMT at 19 months |
| 5151* | F | HSM | Bilateral visual loss | 8.8 | 378 | Died at 32 months | |||
| 4367 | M | 4 m | 10 | MC, unilateral microphthalmia | Intact | Unilateral visual loss | 10.2 | 348 | V-P shunt for hydrocephaly |
| 4919 | M | 1 m | 18 | HSM, MC, facial nerve palsy | Intact | Unilateral visual loss | 7.4 | 153 | Successful BMT at 29 months |
| 4913 | F | 1 year | 10 | Massive HSM, FTT | Intact | Bilateral visual loss | 6.6 | 39 | Left eye perforation, curved humerus and fractures |
| 4437* | F | 7 | HSM | Bilateral visual loss | Transfusion dependent | Failed BMT at 2 years | |||
| 4435* | F | 3 | Successful BMT at 4 months | ||||||
↵* These patients were not followed at our centre and information on their presentation and course is sparse.
BMT, bone marrow transplant; FTT, failure to thrive; HSM, hepatosplenomegaly; MC, macrocephaly; PLT, platelets; V-P, ventriculo-peritoneal.