Table 1 Timeline
Age | Symptoms | Blood Analysis | Diagnosis | Treatment | Outcome |
|---|---|---|---|---|---|
30 days | -Pallor -Recurrent vomiting at every meal -Diarrhea -Weight loss (< 25th percentile) | -Megaloblastic anemia -Normal Folate and cobalamin blood concentrations -Urinary spot methylmalonic acid normal homocystinuria present | At 45 day a suspected transcobalamin 2 deficiency was diagnosed | -Several transfusions of washed and concentrated RBC and -IM injections of hydroxocobalamin (1 mg/day for one weeks and thereafter 1 mg/ twice a week) | -Vomiting and diarrhea disappearance -Blood test normalization -Body growth normalization |
11 months | Any symptoms | -Normal hematological picture | IM injections of 1 mg/week of hydroxocobalamin | -Excellent health -Body weight (between the 50th and 75th percentiles) | |
8 years | Any symptoms | -Normal hematological picture | Therapy suspension for about two and a half months | -Pancytopenia | |
8 years | Any symptoms | -Pancytopenia | Therapy resumption IM injections of 1 mg/week of hydroxocobalamin | Hematological picture normalization | |
10 years and half | Appearence of menarche | ||||
29 years | Any symptoms | -Normal hematological picture | Genetic confirmation of TCN2 mutation | IM injections of 1 mg/week of hydroxocobalamin | Good health |
At present | Any symptoms | -Normal hematological picture | IM injections of 1 mg/week of hydroxocobalamin | She is a 31 years old healthy lady |