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Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy
Author(s) -
Tise Christina G.,
Morales Jose Andres,
Lee Ariel S.,
VelezBartolomei Frances,
Floyd Brendan J.,
Levy Rebecca J.,
CusmanoOzog Kristina P.,
Feigenbaum Annette S.,
Ruzhnikov Maura R. Z.,
Lee Chung U.,
Enns Gregory M.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62160
Subject(s) - proband , newborn screening , adrenoleukodystrophy , medicine , differential diagnosis , pediatrics , genetic counseling , genetics , mutation , biology , pathology , gene , peroxisome , receptor
We report three unrelated probands, two male and one female, diagnosed with Aicardi‐Goutières syndrome (AGS) after screening positive on California newborn screening (CA NBS) for X‐linked adrenoleukodystrophy (X‐ALD) due to elevated C26:0 lysophosphatidylcholine (C26:0‐LPC). Follow‐up evaluation was notable for elevated C26:0, C26:1, and C26:0/C22:0 ratio, and normal red blood cell plasmalogens levels in all three probands. Diagnoses were confirmed by molecular sequencing prior to 12 months of age after clinical evaluation was inconsistent with X‐ALD or suggestive of AGS. For at least one proband, the early diagnosis of AGS enabled candidacy for enrollment into a therapeutic clinical trial. This report demonstrates the importance of including AGS on the differential diagnosis for individuals who screen positive for X‐ALD, particularly infants with abnormal neurological features, as this age of onset would be highly unusual for X‐ALD. While AGS is not included on the Recommended Universal Screening Panel, affected individuals can be identified early through state NBS programs so long as providers are aware of a broader differential that includes AGS. This report is timely, as state NBS algorithms for X‐ALD are actively being established, implemented, and refined.