Table 2 Clinical and genetic information of deceased babies
Manifestations | First baby ( male) | Second baby (female) |
|---|---|---|
Birth weight | 3.2 kg | 3 kg |
Apgar at 5minutes | 10 | 08 |
Abdominal distension at birth | Slight distention | Significant distension |
Tachypnea, poor sucking, less activity | Developed on day 03 | Since birth |
Jaundice | Developed on day 03 | Day 01 |
Hepatomegaly | 4 cm on day 03 | 8 cm at birth |
Splenomegaly | 2 cm on day 03 | 3 cm at birth |
Multi-organ dysfunction | Developed on day 10 | Day 05 |
Septic screening (FBC,CRP) | Altered at day 03 | Altered on day 02 |
Liver Function Tests | ||
AST | – | 5865 u/L |
ALT | – | 586 u/L |
Serum bilirubin | – | 362 micromol/L |
Serum albumin | – | 2.2 g/dl |
GGT | – | 248u/L |
INR | – | 6.23 |
APTT | – | 48 s |
Renal Function Tests | ||
Blood urea | – | 146 mg/dL |
Serum Creatinine | – | 2.2 mg/dL |
Urine culture | Klebsiella | Klebsiella |
Blood &CSF cultures | Negative | Negative |
TORCH screening | Negative | Negative |
Screening Hepatitis B& C | Negative | Negative |
Ultrasound abdomen and chest | Hepatosplenomegaly with mild ascites on day 03, but no pleural effusion | Hepatosplenomegaly with gross ascites and pleural effusion on day 01 |
Liver biopsy | Acute hepatitis with liver cell necrosis | Not done |
Deceased | On day 14 | On day 14 |
Genetic study | Not performed | Homozygous, STXBP2 gene NM_001272034.1:c.1141-2A > G |