Table 1.
Presenting features of two siblings with Gaucher Disease.
| Features at Diagnosis | Case 1 | Case 2 |
|---|---|---|
| Gender/Age | M/22 months | F/41 months |
| Duration of symptoms | 2 months | - |
| Presenting sign/symptom | Abdominal distension, asthenia |
Abdominal distension |
| WBC/PMN/uL | 3200/1200 | 3100/1400 |
| Hb gr/dl | 6.0 | 10.0 |
| Platelets/uL | 80,000 | 98,000 |
| Abdominal circumference | 58 cm | 51 cm |
| Liver size (US longitudinal diameter) | 13 cm | 11 cm |
| Spleen size (US, longitudinal diameter) | 16 cm | 15 cm |
| Bone deformities or lytic lesions | No | No |
| Somato-sensorial potential | Normal | Normal |
| Performance status (Lansky scale) at diagnosis | 40% | 50% |
| Age at ERT start | 22 months | 41 months |
| Current age | 29 months | 46 months |
| Current Performance status (Lansky scale) | 80% | 70% |