Summary of clinical findings
| Case; sex/age . | Case 1; F/neonate . | Case 2; F/3 mo . | Case 3; F/3 mo . |
|---|---|---|---|
| Presentation | Pallor; failure to thrive; abdominal distension; ascites; lower limb edema | Pallor; mild jaundice | Noted to have persistent pallor on regular checkup |
| Hepatosplenomegaly | Gross (liver 11 cm and spleen 9 cm below costal margin) | Gross (liver 6 cm and spleen 4 cm below costal margin) | Demonstrated on ultrasound examination; a 2-cm hypodense area in dome of liver on CT scan |
| Blood counts | Hb level: 43 g/L; Platelet count: 3 × 109/L | Hb level: 34 g/L; Platelet count: 12 × 109/L | Hb level: 63 g/L; Platelet count: 57 × 109/L |
| Serum albumin level (N: 29-45 g/L) | 15 g/L | 19 g/L | NA |
| Serum ferritin level (N: 8-135 μg/L) | 361 μg/L | 1060 μg/L | NA |
| Serum triglycerides (N: 0.9-2 mM) | 1.7 mM | 1.9 mM | NA |
| Plasma fibrinogen (N: 0.8-3.8 g/L) | 3.3 g/L | 3.93 g/L | NA |
| Treatment and outcome | Mechanical ventilation for increased ascites impairing breathing. Given dexamethasone and etoposide. Gradual improvement, with reduction of ascites but persistence of hepatosplenomegaly. Successfully extubated after 16 days. Then developed multiple brownish to purplish macules, over scalp and trunk, which gradually regressed. At 2.5 years, the child was growing well, with normal blood counts and liver function tests; 3-cm hepatomegaly persisted. | Given dexamethasone and etoposide for about 8 months. Anemia gradually improved, platelet count rose, and biochemical profile normalized. Second biopsy was taken at 1 year (reported then as normal, but abnormal histiocytes were identified retrospectively on ALK immunostaining), and no further treatment was given. Well, with normal growth at 5 years. | Empirically treated with antibiotics. The hemoglobin gradually dropped further, and platelet count remained on the low side. Progressive increase in size of liver (12 cm) and spleen (3 cm). No specific treatment given. Then, condition gradually improved, hepatosplenomegaly regressed, and blood counts normalized. Well at 7 years. |
| Case; sex/age . | Case 1; F/neonate . | Case 2; F/3 mo . | Case 3; F/3 mo . |
|---|---|---|---|
| Presentation | Pallor; failure to thrive; abdominal distension; ascites; lower limb edema | Pallor; mild jaundice | Noted to have persistent pallor on regular checkup |
| Hepatosplenomegaly | Gross (liver 11 cm and spleen 9 cm below costal margin) | Gross (liver 6 cm and spleen 4 cm below costal margin) | Demonstrated on ultrasound examination; a 2-cm hypodense area in dome of liver on CT scan |
| Blood counts | Hb level: 43 g/L; Platelet count: 3 × 109/L | Hb level: 34 g/L; Platelet count: 12 × 109/L | Hb level: 63 g/L; Platelet count: 57 × 109/L |
| Serum albumin level (N: 29-45 g/L) | 15 g/L | 19 g/L | NA |
| Serum ferritin level (N: 8-135 μg/L) | 361 μg/L | 1060 μg/L | NA |
| Serum triglycerides (N: 0.9-2 mM) | 1.7 mM | 1.9 mM | NA |
| Plasma fibrinogen (N: 0.8-3.8 g/L) | 3.3 g/L | 3.93 g/L | NA |
| Treatment and outcome | Mechanical ventilation for increased ascites impairing breathing. Given dexamethasone and etoposide. Gradual improvement, with reduction of ascites but persistence of hepatosplenomegaly. Successfully extubated after 16 days. Then developed multiple brownish to purplish macules, over scalp and trunk, which gradually regressed. At 2.5 years, the child was growing well, with normal blood counts and liver function tests; 3-cm hepatomegaly persisted. | Given dexamethasone and etoposide for about 8 months. Anemia gradually improved, platelet count rose, and biochemical profile normalized. Second biopsy was taken at 1 year (reported then as normal, but abnormal histiocytes were identified retrospectively on ALK immunostaining), and no further treatment was given. Well, with normal growth at 5 years. | Empirically treated with antibiotics. The hemoglobin gradually dropped further, and platelet count remained on the low side. Progressive increase in size of liver (12 cm) and spleen (3 cm). No specific treatment given. Then, condition gradually improved, hepatosplenomegaly regressed, and blood counts normalized. Well at 7 years. |
None of the patients had fever.
N indicates normal range; CT, computed tomography; and NA, not available.