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


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. |