06 October 2022
: Case report 
Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report
Unusual clinical course, Challenging differential diagnosis, Rare disease, Congenital defects / diseases
Mohammed Shahab Uddin
1ACDEF*, Saleh Al Fulayyih 1BDE, Fatin Fahad Al Denaini 1BFG, Maher Mohammed Al Hatlani1ADEF
DOI: 10.12659/AJCR.935840
Am J Case Rep 2022; 23:e935840
Table 2. Laboratory workup for neonatal cholestasis.
| Workup done for | Result |
|---|---|
| Serum amino acid | Non-specific elevation of multiple amino acid |
| Urine for organic acid | Normal |
| Tandem MS | Normal |
| Thyroid function | Normal |
| TORCH screening | Normal |
| USG Abdomen | No choledochal cyst |
| Alpha-1-antitrypsin deficiency | Negative |
| Galactosemia | Negative |
| Tyrosinemia type 1 | Negative |
| Urine for reducing substance | Negative |
| Hepatitis B | Negative |
| Hepatitis C | Negative |
| CMV | Negative |
| ECHO | Normal |
| X-ray spine | No abnormalities |
| Eye examination | Normal |
| Bile acid (≤6 umol/L) | 120 |
| Tandem MS – tandem mass spectrometry; TORCH screening– , other agents, such as , varicella zoster virus, parvovirus B19, and human immunodeficiency virus; rubella, cytomegalovirus (CMV); herpes simplex virus (HSV); ECHO – echocardiography. | |