Table 1.
Summary of clinical findings of the patients.
| Patients | Case 1 | Case 2 | Case 3 | Case 4 |
|---|---|---|---|---|
| General information | ||||
| Sex | Female | Female | Female | Male |
| Age at onset | 72 h | 4 years | 8 months | 24 h |
| Age at diagnosis | 5 years-6 months | 7 years-3 months | 6 years-4 months | 10 years-8 months |
| Birth height (cm)/weight (kg) | 50/3.2 | unknown/3.6 | unknown/unknown | unknown/3.9 |
| Current height (cm)/weight (kg)/BMI (kg/m2) | 128 (3.37 SD)/25 (2.68 SD)/15.2 | 130 (1.15 SD)/23 (−0.11 SD)/13.6 | 123 (−0.01 SD)/27 (2.58 SD)/17.8 | 145 (0.22 SD)/35 (−0.51 SD)/16.6 |
| Results of blood chemistry | ||||
| RBC (3.70–5.80 × 1012/L) | 4.51 | 4.16 | 4.13 | 4.15 |
| Hemoglobin (110–160 g/L) | 128 | 115.0 | 117.0 | 119.0 |
| Glucose (3.9–6.0 mmol/L) | 0.3 | 0.6 | 2.0 | 0.6 |
| pH of arterial blood (7.35–7.45) | 6.97 | 6.88 | 7.11 | 6.91 |
| Base excess (−3~+3 mmol/L) | −25.0 | −23.1 | −25.6 | −22.1 |
| Lactic acid (0.7–2.1 mmol/L) | 11.9 | 12.5 | 10.4 | 12.6 |
| Insulin (1.9–23.0 μIU/mL) | 8.0 | 23.8 | 22.9 | 14.0 |
| C-peptide (1.1–4.4 ng/mL) | 3.06 | 2.08 | 3.11 | 2.89 |
| Cortisol (5.70–16.60 ug/dL) | 57.30 | 8.90 | 17.70 | 38.50 |
| ACTH (8.00–80.00 pg/mL) | >1250.00 | 9.13 | 18.86 | 19.60 |
| Sodium (135–145 mmol/L) | 136 | 142 | 131 | 136 |
| Potassium(3.5–5.0 mmol/L) | 5.6 | 5.2 | 7.3 | 5.2 |
| Chloride (98–110 mmol/L) | 99 | 106 | 106 | 109 |
| Uric acid (146–369 μmol/L) | 875 | 599 | 1218 | 892 |
| Creatinine (44–97 μmol/L) | 71 | 52 | 143 | 64 |
| Urea nitrogen (2.5–6.1 mmol/L) | 6.4 | 7.5 | 23.9 | 7.8 |
| ALT (0–40 U/L) | 18 | 10 | 84 | 22 |
| AST (0–45 U/L) | 20 | 27 | 118 | 48 |
| Others findings | ||||
| Ultrasound (thyroid, abdomen, and heart) | Normal | Normal | Normal | Hepatomegaly and pyoperitoneum |
| Electroencephalogram | Normal | Normal | Normal | Normal |
| Brain MRI | Enlarged bilateral ventricles | Enlarged left ventricle | Normal (no images) | Patchy abnormal signals |
| Intellectual development | Normal | Normal | Normal | Delayed |
SD: standard deviation; BMI: body mass index; RBC: red blood cell; ALT: alanine aminotransferase; AST: aspartate aminotransferase; MRI: magnetic resonance imaging; ACTH: adrenocorticotropic hormone.