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. 2023 Aug 7;19(1):68.
doi: 10.1186/s13223-023-00827-x.

Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome

Vivien X Xie  1 , Wilson File  2 , Christina Wiedl  3 , Brant R Ward  4 , Blachy Dávila Saldaña  5 , Michael D Keller  6 , Alexandra B Kornbluh  7
Affiliations

Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome

Vivien X Xie et al. Allergy Asthma Clin Immunol. .

Abstract

Background: Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon.

Case presentation: We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS.

Conclusions: This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options.

Keywords: Demyelination; Myelin oligodendrocyte glycoprotein antibody associated disease; Optic neuritis; Wiskott-Aldrich syndrome.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
MRI brain images from initial hospitalization. Axial fluid-attenuated inversion recovery (FLAIR) sequences demonstrated (A) two small T2/FLAIR hyperintense 3-4 mm foci in the right frontal white matter and (B) T2/FLAIR hyperintense bilateral optic nerves. Axial T1 post-gadolinium images demonstrate (C) thickening of the optic nerves to 5–7 mm with (D) marked enhancement of the nerve sheaths consistent with bilateral optic neuritis
Fig. 2
Fig. 2
MRI brain images from second hospitalization. Axial FLAIR sequence demonstrating (A) T2/FLAIR hyperintensity of bilateral optic nerves right > left, optic chiasm, and optic tracts with (B) corresponding T1 gadolinium enhancement, indicating relapsed bilateral optic neuritis. (C) T1 gadolinium enhancement of optic nerves right > left also noted in coronal images. (D) Previously noted T2/FLAIR hyperintensities resolved
See this image and copyright information in PMC

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