UPN | Age when hypocalcaemic (days) | Initial symptoms | Age at diagnosis (days) | Additional features at diagnosis | ||||
1 | 1 | Focal convulsion | 1 | |||||
2 | 4 | Focal fitting | 10 | |||||
Snuffling | ||||||||
3B | 5 | Generalised convulsion | 2 | |||||
3A | <14 | Severe jittering during first 2 weeks | 60 | Macrocephaly | ||||
Visual failure | ||||||||
Hepatosplenomegaly | ||||||||
4 | 8 | Poor feeding | 76 | Visual failure | ||||
Twitching | Anaemia | |||||||
Brief “spasms” | Macrocephaly | |||||||
Snuffling | ||||||||
5B | 10 | Jaundice | 30 | |||||
Vomiting | ||||||||
Snuffling | ||||||||
6 | 14 | Generalised convulsions | 210 | Visual failure | ||||
Anaemia | ||||||||
Hepatosplenomegaly | ||||||||
Macrocephaly | ||||||||
Snuffling | ||||||||
5A | 43 | Snuffling | 43 | |||||
Generalised convulsions |
When there were two affected children within a family, these are denoted A or B according to their order of birth. Child 3B was diagnosed by routine x ray examination on day 2 because of the previous family history.
UPN, unique patient number.