J Pediatr Neurol 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
1  Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan
2  Department of Pediatrics, Yamanashi Kosei Hospital, Yamanashi, Japan
,
Hideaki Kanemura
1  Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan
,
Tomoko Tando
1  Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan
,
Masao Aihara
3  Graduate Faculty of Interdisciplinary Research, Graduate School, University of Yamanashi, Yamanashi, Japan
› Institutsangaben
Weitere Informationen

Publikationsverlauf

17. April 2018

14. August 2018

Publikationsdatum:
19. September 2018 (online)

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.