A Case of Chromosome 22q11.2 Deletion Syndrome with White Matter Abnormalities and Hypernasal Speech: Importance of Extracardiac Symptoms for Earlier Diagnosis

Kaoru Fujioka; Hideaki Kanemura; Tomoko Tando; Masao Aihara

doi:10.1055/s-0038-1672159

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2019; 17(04): 153-157
DOI: 10.1055/s-0038-1672159

Case Report

Georg Thieme Verlag KG Stuttgart · New York

A Case of Chromosome 22q11.2 Deletion Syndrome with White Matter Abnormalities and Hypernasal Speech: Importance of Extracardiac Symptoms for Earlier Diagnosis

Kaoru Fujioka

¹Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan

²Department of Pediatrics, Yamanashi Kosei Hospital, Yamanashi, Japan

,

Hideaki Kanemura

¹Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan

,

Tomoko Tando

¹Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan

,

Masao Aihara

³Graduate Faculty of Interdisciplinary Research, Graduate School, University of Yamanashi, Yamanashi, Japan

› Author Affiliations

Abstract

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is one of the most common genetic syndromes. The varying presentation and severity of this syndrome result in diagnostic delays, especially in patients without cardiac malformation or characteristic features. We report a noncardiac case of 22q11.2DS with white matter abnormalities and velopharyngeal insufficiency. The recognition of white matter abnormalities as a feature of 22q11.2DS contributed to early diagnosis. Diagnostic delay could lead to inappropriate management and unfavorable outcomes. Increased awareness of the various minor features of 22q11.2DS may enable clinicians to diagnose this syndrome earlier and provide appropriate medical management.

Keywords

22q11.2 deletion syndrome - white matter abnormality - earlier diagnosis

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References

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