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Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
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Alagille syndrome: a case report.

Yacine Benabed1, Emilie Chaillou2, Marie-Christine Denis1

  • 1Département de biochimie et génétique, CHU Angers, France.

Annales De Biologie Clinique
|December 14, 2018
PubMed
Summary

Alagille syndrome, a rare genetic disorder, was diagnosed in an infant with neonatal anoxic ischemia. Genetic testing confirmed a JAG1 gene variant, highlighting the syndrome

Keywords:
Alagille syndromeJAG1 genebisalbuminemia

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • Alagille syndrome (SAG) is a rare autosomal dominant disorder affecting approximately 1 in 30,000 births.
  • It is primarily caused by heterozygous pathogenic variants in the JAG1 gene.
  • SAG presents with a spectrum of abnormalities including cholestasis, cardiac, facial, vertebral, and ocular defects.

Observation:

  • A case report of an infant with neonatal anoxic ischemia is presented.
  • The infant exhibited major cholestasis, cardiac malformations, facial dysmorphia, and vertebral and ocular abnormalities, raising suspicion for SAG.
  • Pseudo-bisalbuminemia was incidentally discovered during serum protein analysis.

Findings:

  • The diagnosis of Alagille syndrome was confirmed by identifying a heterozygous pathogenic variant in the JAG1 gene.
  • The clinical presentation and genetic findings align with the known characteristics of SAG.
  • Capillary electrophoresis revealed pseudo-bisalbuminemia, an incidental finding during the diagnostic workup.

Implications:

  • This case underscores the importance of recognizing the diverse clinical manifestations of Alagille syndrome.
  • Accurate diagnosis requires a multidisciplinary approach involving genetic testing and clinical evaluation.
  • Understanding the physiopathology of SAG and associated conditions like pseudo-bisalbuminemia is crucial for effective patient management.