Table 1 Clinical features of Italian children affected by TRMA
Case 1 | Case 2 | Case 3 | Case 4 | |
|---|---|---|---|---|
Consanguineous | No | No | No | No |
Age of symptom onset (months) | 9 | 20 | 20 | 27 |
Onset symptoms | Hyperglycaemia Macrocytic anaemia Deafness | Hyperglycaemia Macrocytic anaemia Deafness | Hyperglycemia Deafness Macrocytic anemia Retinitis pigmentosa Optic atrophy | Hyperglycemia Deafness Macrocytic anemia Peripheral pigmentary retinal alterations |
Latency start of thiamine therapy | 2 months | Few days | 7 years | Few days |
Dose of oral thiamine | 480 mg/die | 300 mg/die | 600 mg/die | 1200 mg/die |
Insulin dependent diabetes | No | No | Yes | No |
Ophthalmic Features | Not present | Not present | Retinal dystrophy Optic atrophy | Not present |
Cardiac features | Not present | Sporadic junctional rhythm with normal heart rate | Not present | Not present |
Molecular finding | Compound heterozygous for c.242dupA (p.Tyr81*) in exon 2 and c.1370delT (p.Leu457*) in exon 6 | Homozygous for c.1370delT (p.Leu457*) | Compound heterozygous for c.242dupA (p.Tyr81*) in exon 2 and c.1370delT (p.Leu457*) in exon 6 | Compound heterozygous for c.242dupA (p.Tyr81*) in exon 2 and c.1370delT (p.Leu457*) in exon 6 |