Table 1 Biochemical parameters and ABHD5 genotype
From: Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients
Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | |
|---|---|---|---|---|---|---|
Age at diagnosis | 9 months | 11 months | 13 months | 16 months | 17 months | 24 months |
Sex | M | M | M | M | M | M |
FOC | 46 cm | 42 cm | 49 cm | 47 cm | 49 cm | 49 cm |
Height | 58 cm | 62 cm | 73 cm | 80 cm | 84 cm | 85 |
Weight | 9 kg | 8 kg | 12 kg | 10 kg | 12 kg | 14 kg |
Liver | 4 cm BCM | 7 cm BCM | 5 cm BCM | 4 cm BCM | 4 cm BCM | 4 cm BCM |
Liver span | 10 cm | 13.5 cm | 12 cm | 11 cm | 10 cm | 11 cm |
Biochemical parameters | ||||||
TG (75–160) | 548 mg/dL | 230 mg/dL | 946 mg/dL | 543 mg/dL | 331 mg/dL | 221 mg/dL |
Cholesterol (90–200) | 110 mg/dL | 231 mg/dL | 160 mg/dL | 210 mg/dL | 157 mg/dL | 130 mg/dL |
VLDL (60–160) | 72 mg/dL | 86 mg/dL | 66 mg/dL | 86 mg/dL | 66 mg/dL | 82 mg/dL |
LDL Cholesterol < 110 | 110 mg/dL | 92 mg/dL | 106 mg/dL | 110 mg/dL | 96 mg/dL | 96 mg/dL |
HDL Cholesterol > 40 | 42 | 36 | 30 mg/dL | 40 mg/dL | 36 mg/dL | 46 mg/dL |
Total bilirubin(0.1–0.9) | 0.4 mg/dL | 3.0 mg/dL | 1.2 mg/dL | 0.9 mg/dL | 0.14 mg/dL | 0.9 mg/dL |
Direct bilirubin (0.1–0.2) | 0.3 | 1.5 mg/dL | 0.8 mg/dL | 0.6 mg/dL | 0.03 mg/dL | 0.4 mg/dL |
Indirect bilirubin (0.1–1) | 0.1 | 1.5 | 0.4 mg/dL | 0.3 mg/dL | 0.11 mg/dL | 0.5 mg/dL |
ALT (25–55) | 35 IU/L | 691 IU/L | 28 IU/L | 112 IU/L | 154 IU/L | 127 IU/L |
AST (20–40) | 25 IU/L | 331 IU/L | 32 IU /L | 76 IU/L | 110 IU/L | 88 IU/L |
ALP (< 200) | 439 IU/L | 852 IU/L | 252 IU/L | 252 IU/L | 184 IU/L | 252 IU/L |
GGT (25–60) | 22 IU/L | 86 IU/L | 35 IU/L | 65 IU/L | 54 IU/L | 86 IU/L |
CPK (60–120) | 131 IU/L | 352 IU/L | 86 IU/L | 102 IU/L | 72 IU/L | 145 IU/L |
Urea(20–40) | 19 mg/dL | 14 mg/dL | 20 mg/dL | 18 mg/dL | 18 mg/dL | 20 mg/dL |
Creatinine (0.1–0.9) | 0.3 mg/dL | 0.3 mg/dL | 0.2 mg/dL | 0.2 mg/dL | 0.1 mg/dL | 0.2 mg/dL |
Albumin (3.5–4.5) | 3.1 g/dL | 2.9 g/L | 3.8 g/L | 3.4 g/L | 4.3 g/L | 4.1 g/L |
TLC/ul(4000–11,000) | 9100 | 14,000 | 12,000 | 8300 | 9900 | 8300 |
Hb (10.5–13.5) | 13.5 g/dL | 12.5 g/dL | 13.1 g/dL | 10.9 g/dL | 11.9 g/dL | 12.8 g/dL |
Platelets/ul (150,000–450,000) | 259,000 | 445,000 | 560,000 | 334,000 | 793,000 | 352,000 |
HCT (28–45) | 32% | 35% | 38.2% | 25% | 37.3% | 28% |
MCV(fl) (75- 90) | 82 | 77 | 71 | 74 | 72.3 | 80 |
MCH(pg) (22–33) | 24 | 28 | 23 | 32 | 23.1 | 33 |
N% | 62 | 45 | 48 | 44 | 41 | 52% |
L% | 38 | 55 | 52 | 46 | 52 | 46% |
CNS Manifestations | No | Yes | No | No | No | No |
Skin Manifestation | Yes | Yes | Yes | Yes | Yes | Yes |
Jordan anomaly | Present | Present | Present | Present | Present | Present |
Mutation | c.730-731insA | c.730-731insA | c.730-731insA | c.730-731insA | c.730-731insA | c.338G > T |
Current age | 2 years, 2 months | Expired at 18 months | 2 years, 7 months | 3 years | 3.5Years | 3 years |
Follow-up ALT | 22 IU/L | 78 IU/L | 25 IU/L | 55 IU/L | 35 IU/L | 56 IU/L |
Follow-up AST | 25 IU/L | 33 IU/L | 32 IU /L | 36 IU/L | 40 IU/L | 38 IU/L |
Follow-up TG | 148 mg/dL | 130 mg/dL | 246 mg/dL | 143 mg/dL | 131 mg/dL | 121 mg/dL |
Follow-up liver | 2 cm BCM | – | 3 cm BCM | 3 cm BCM | 2 cm BCM | 2 cm BCM |
Liver span | 9 cm | – | 9 cm | 9.5 cm | 8.5 cm | 9 cm |