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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
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
› Author Affiliations
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Publication History

17 April 2018

14 August 2018

Publication Date:
19 September 2018 (online)

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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
 

  • References

  • 1 McDonald-McGinn DM, Sullivan KE, Marino B. , et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers 2015; 1: 15071
    Search in Google Scholar
  • 2 Cancrini C, Puliafito P, Digilio MC. , et al; Italian Network for Primary Immunodeficiencies. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014; 164 (06) 1475-80.e2
    CrossrefPubMedSearch in Google Scholar
  • 3 Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 2008; 14 (01) 3-10
    CrossrefPubMedSearch in Google Scholar
  • 4 Friedman N, Rienstein S, Yeshayahu Y, Gothelf D, Somech R. Post-childhood presentation and diagnosis of DiGeorge syndrome. Clin Pediatr (Phila) 2016; 55 (04) 368-373
    CrossrefPubMedSearch in Google Scholar
  • 5 McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A. , et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!. Genet Med 2001; 3 (01) 23-29
    CrossrefPubMedSearch in Google Scholar
  • 6 Bassett AS, Chow EW, Husted J. , et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A 2005; 138 (04) 307-313
    PubMedSearch in Google Scholar
  • 7 Oskarsdóttir S, Persson C, Eriksson BO, Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 2005; 164 (03) 146-153
    CrossrefPubMedSearch in Google Scholar
  • 8 Palmer LD, Butcher NJ, Boot E. , et al. Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176 (04) 936-944
    CrossrefPubMedSearch in Google Scholar
  • 9 Schmitt JE, Yi JJ, Roalf DR. , et al. Incidental radiologic findings in the 22q11.2 deletion syndrome. Am J Neuroradiol 2014; 35 (11) 2186-2191
    CrossrefPubMedSearch in Google Scholar
  • 10 Campbell LE, Daly E, Toal F. , et al. Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study. Brain 2006; 129 (Pt 5): 1218-1228
    CrossrefPubMedSearch in Google Scholar
  • 11 Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 2007; 14 (03) 136-139
    CrossrefPubMedSearch in Google Scholar
  • 12 McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore) 2011; 90 (01) 1-18
    Search in Google Scholar
  • 13 Vantrappen G, Devriendt K, Swillen A. , et al. Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. Genet Couns 1999; 10 (01) 3-9
    PubMedSearch in Google Scholar
  • 14 Becker DB, Pilgram T, Marty-Grames L, Govier DP, Marsh JL, Kane AA. Accuracy in identification of patients with 22q11.2 deletion by likely care providers using facial photographs. Plast Reconstr Surg 2004; 114 (06) 1367-1372
    PubMedSearch in Google Scholar
  • 15 Vieira TP, Monteiro FP, Sgardioli IC. , et al. Clinical features in patients with 22q11.2 deletion syndrome ascertained by palatal abnormalities. Cleft Palate Craniofac J 2015; 52 (04) 411-416
    CrossrefPubMedSearch in Google Scholar
  • 16 Radoeva PD, Coman IL, Antshel KM. , et al. Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings. Behav Brain Funct 2012; 8: 38
    CrossrefPubMedSearch in Google Scholar