Patient | Gender | GA (wk) | BW(g) | Age of onset | Age at diagnosis | Current age | Initial presentation | Family history | Treatment and long-term follow-up |
---|---|---|---|---|---|---|---|---|---|
P1 | Male | 38 | 3300 | 3 days | 0.5 y | 5.2 y | seizures | Negative | Diet and antiepileptic drugs, only once hypoglycemia occurred. |
P2 | Male | 39 | 4000 | 1 days | 0.4 y | 1.3 y | hypoglycemia occurred within 24 h after birth | Negative | diazoxide-unresponsive; received octreotide treatment, His glucose level was normal. |
P3 | Male | 38 | 4500 | 0.5 y | 3.5 y | 8.2 y | seizures | Negative | antiepileptic drugs treatment.; Unresponsive to diazoxide and octreotide; glucose supplement if hypoglycemia occurred. And he had mental retardation. |
P4 | Female | 38 | 5460 | 1 days | 0.1 y | 3 y | hypoglycemia occurred within 24 h after birth | Her mother had GDM and Hypothyroidism, and received metformin and Levothyroxine treatment. | diazoxide-responsive, and discontinuation for 1 years, her glucose level was normal |
P5 | Female | 41 | 4600 | 10 days | 0.1 y | 5 y | hypoglycemia | Her mother had GDM and received insulin treatment. | diazoxide-responsive, and discontinuation for 2 years, no hypoglycemia occurred. |
P6 | Female | 39 | 4000 | 1 days | 0.1 y | 4.2 y | hypoglycemia | Negative | diazoxide-responsive, and she received diazoxide treatment till 2 years. No hypoglycemia occurred. |
P7 | Male | 39 | 3200 | 1 days | 5 y | 7 y | recurrent seizures and microcephaly | Negative | Diazoxide and octreotide unresponsive, and hypoglycemia occurred frequently even after pancreatectomy; he had mental retardation. |
P8 | Male | 38 | 3450 | 0.6 y | 0.6 y | 7.6 y | hypoglycemia | Negative | Diet treatment, no hypoglycemia occurred. |