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Case Reports
. 2023 Sep 2:11:2050313X231197321.
doi: 10.1177/2050313X231197321. eCollection 2023.

A neonatal case of vascular ring with Alagille syndrome

Pei-Shan Lee  1   2 , Jose A Silva Sepulveda  1   2 , Miguel Del Campo  1   2 , Sandra L Leibel  1   2 , Amber Hildreth  1   2 , Krishelle L Marc-Aurele  1   2
Affiliations
Case Reports

A neonatal case of vascular ring with Alagille syndrome

Pei-Shan Lee et al. SAGE Open Med Case Rep. .

Abstract

A female infant, born at 37 week 5 days to a mother via induced vaginal delivery for preeclampsia, was prenatally diagnosed with a right aortic arch with vascular ring. On the third day of life, the infant exhibited a bronze-gray coloration, and a direct bilirubin of 1.7 mg/dL was detected. The abdominal ultrasound did not visualize the gallbladder. Clinically, the infant displayed features consistent with Alagille syndrome, including unusual facial appearance, butterfly vertebrae, cardiovascular defects, and cholestasis. The geneticist noted that the mother of the patient also exhibited similar features. Both the infant and the mother were diagnosed with Alagille syndrome, both having the same heterozygous JAG1 gene (NM_000214.2) variant (c.1890_1893del, p.Ile630Metfs*112). We believe that the vascular ring observed in our patient is the first reported instance of a vascular ring associated with Alagille syndrome.

Keywords: Alagille syndrome; JAG1; Vascular ring; cardiovascular anomalies; cholestasis.

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Conflict of interest statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
H&E stained section of liver needle biopsy showing portal tract with absent bile duct; overall bile duct to portal tract ratio was 0.4, consistent with paucity of bile ducts/Alagille syndrome. Photo courtesy of Dr. Denise Malicki, Clinical Professor of Pathology at UC San Diego.
See this image and copyright information in PMC

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