Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report

06 October 2022 : Case report Saudi Arabia

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 Hatlani^1ADEF

DOI: 10.12659/AJCR.935840

Am J Case Rep 2022; 23:e935840

Background Case Report Discussion Conclusions References:

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Table 1. Serum bilirubin level during hospitalization from the week 1 to week 14.

Time	TolBil	DirBil	AST	ALT	GGT	ALP	Albumin
Week 1	164	18.9	60	17	1142	151	38
Week 2	135	23.7	30	26	877	176	32
Week 3	69.8	21.8	39	35	550	217	28
Week 4	84.1	23.9	63	42	436	309	27
Week 5	96.6	34.1	203	180	375	517	31
Week 6	114.9	66.7	339	164	420	484	24
Week 7	126.3	73.8	303	159	422	542	20
Week 8	168	95.7	215	104	483	839	17
Week 9	265	101	224	83	824	610	24
Week 10	219.5	175	437	77	762	497	22
Week 11	233.5	157	220	51	466	376	18
Week 12	303.8	236	263	25	118	505	16
Week 13	427	228	201	30	135	136	13
Week 14	411	201	248	26	181	126	15
TolBil – total bilirubin; DirBil – direct bilirubin [umol/L]; AST – aspartate aminotransferase; ALT – alanine aminotransferase; GGT – gamma-glutamyl transferase; ALP – alkaline phosphatase. AST, ALT, GGT, and ALP measuring unit (U/L); albumin (g/L).

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