Top

Journal of Medical Case Reports

Published in:

Open Access 01-12-2022 | Dandy-Walker Syndrome | Case report

Wisconsin syndrome with brain volume laterality: a case report and review of the literature

Authors: Satomi Okano, Yoshio Makita, Kayano Kimura, Ikue Fukuda, Akie Miyamoto, Hajime Tanaka

Published in: Journal of Medical Case Reports | Issue 1/2022

Abstract

Background

Wisconsin syndrome is a congenital anomaly caused by a 3q interstitial deletion. It is associated with characteristic facies and developmental delays. Only 33 cases with a deletion estimated to be in the associated region 3q25 have been reported.

Case report

We present the case of a 5-year-old Japanese girl with a 3q24q25.2 deletion. Her facial features corresponded to the Wisconsin syndrome phenotype, and she exhibited brain volume laterality, which has not been reported previously.

Conclusion

The clinical features of our case may contribute to narrowing down the list of candidate genes of Wisconsin syndrome.

Willemsen MH, Leeuw N, Mercer C, et al. Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25. Am J Med Genet A. 2011;155A(1):106–12.CrossRefPubMed

Cohen MMJ, MacLean RA. editors. Wisconsin Syndrome. Craniosynostosis: Diagnosis, Evaluation, and Management, 2nd ed. Oxford University Press, New York, 2000; pp. 432–3.

Ferraris A, Bernardini L, Sabolic Avramovska VS, et al. Dandy–Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype–phenotype correlations of 3q23q25 deletions. Orphanet J Rare Dis. 2013;8:75.CrossRefPubMedPubMedCentral

Franceschini P, Cirillo Silengo M, Davi G, et al. Interstitial deletion of the long arm chromosome 3 in a patient with mental retardation and congenital anomalies. Hum Genet. 1983;64(1):97.CrossRefPubMed

Martsolf JT, Ray M. Interstitial deletion of the long arm of chromosome 3. Ann Genet. 1983;26(2):97–9.

Al-Awadi SA, Naguib KK, Farag TI, et al. Complex translocation involving chromosomes Y,1, and 3 resulting in deletion of segment 3q23→q25. J Med Genet. 1986;23(1):91–2.CrossRefPubMedPubMedCentral

Alvarado M, Bocian M, Walker AP. Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype. Am J Med Genet. 1987;27(4):781–6.CrossRefPubMed

Robin NH, Magnusson M, McDonald-McGinn D, et al. De novo interstitial deletion of the long arm of chromosome 3:46, XX, del (3)(q25.1q26.1). Clin Genet. 1993;44(6):335–7.CrossRefPubMed

Chandler KE, de Die-Smulders CE, Engelen JJ, et al. Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion. Eur J Pediatr. 1997;156(8):636–8.CrossRefPubMed

10.

Slavotinek AM, Huson SM, Fitchett M. Interstitial deletion of band 3q25. J Med Genet. 1997;34(5):430–2.CrossRefPubMedPubMedCentral

11.

Costa T, Pashby R, Huggins M, et al. Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). J Pediatr Ophthalmol Strabismus. 1998;35(5):271–6.CrossRefPubMed

12.

Sudha T, Dawson AJ, Prasad AN, et al. De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy–Walker variant malformation and hydrocephalus. Clin Dysmorphol. 2001;10(3):193–6.CrossRefPubMed

13.

Ko WT, Lam WF, Lo F, et al. Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: further delineation of the phenotype. Am J Med Genet. 2003;120(3):413–7.CrossRef

14.

Grinberg I, Northrup H, Ardinger H, et al. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy–Walker malformation. Nat Genet. 2004;36(10):1053–5.CrossRefPubMed

15.

Rea G, McCullough S, McNerlan S, et al. Delineation of a recognizable phenotype of interstitial deletion 3(q22.3q25.1) in a case with previously unreported truncus arteriosus. Eur J Med Genet. 2010;53(3):162–7.CrossRefPubMed

16.

Lim BC, Park WY, Seo EJ, et al. De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy–Walker malformation, and global developmental delay. J Child Neurol. 2011;26(5):615–8.CrossRefPubMed

17.

Tohyama J, Kato M, Kawasaki S, et al. Dandy–Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: report of a new patient. Am J Med Genet A. 2011;155A(1):130–3.CrossRefPubMed

18.

Weber S, Landwehr C, Renkert M, et al. Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization. Nephrol Dial Transplant. 2011;26(1):136–43.CrossRefPubMed

19.

Moortgat S, Verellen-Dumoulin C, Maystadt I, et al. Developmental delay and facial dysmorphism in a child with an 89 Mb de novo interstitial deletion of 3q25.1-q25.32: genotype–phenotype correlations of chromosome 3q25 deletion syndrome. Eur J Med Genet. 2011;54(2):177–80.CrossRefPubMed

20.

D’Amours G, Kibar Z, Mathonnet G, et al. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Clin Genet. 2012;81(2):128–41.CrossRefPubMed

21.

Chang YT, Wang CH, Chou IC, et al. Case report of chromosome 3q25 deletion syndrome or mucopolysaccharidosis IIIB. Biomedicine. 2014;4(1):34–7.CrossRef

22.

Bertini V, Orsini A, Mazza R, et al. A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750kb interval: a potential role for MBNL1. Am J Med Genet A. 2017;173(1):280–4.CrossRefPubMed

23.

Blank MC, Grinberg I, Aryee E, et al. Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy–Walker malformation cerebellar pathogenesis. Development. 2011;138(6):1207–16.CrossRefPubMedPubMedCentral

24.

Yu FX, Zhao B, Guan KL. Hippo pathway in organ size control, tissue homeostasis, and cancer. Cell. 2015;163(4):811–28.CrossRefPubMedPubMedCentral

Title: Wisconsin syndrome with brain volume laterality: a case report and review of the literature
Authors: Satomi Okano
Yoshio Makita
Kayano Kimura
Ikue Fukuda
Akie Miyamoto
Hajime Tanaka
Publication date: 01-12-2022
Publisher: BioMed Central
Keyword: Dandy-Walker Syndrome
Published in: Journal of Medical Case Reports / Issue 1/2022
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-022-03332-8

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Wisconsin syndrome with brain volume laterality: a case report and review of the literature

Abstract

Background

Case report

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Case report

Conclusion

Please log in to get access to this content

Other articles of this Issue 1/2022

A holistic approach for severe flexion contracture of bilateral hip, knee, and ankle joints in a neglected patient with prolonged knee–chest positioning on extreme undernourishment: a case report and review of the literature

Peripheral primitive neuroectodermal tumor: a case report

Antineutrophil cytoplasmic antibody-associated vasculitis in presence of positive antiphospholipid antibody: a case report

Coin-shaped corneal endothelial scar in herpes zoster ophthalmicus: a case report

Coronavirus disease 2019 on routine testing in eclampsia: a case report

A farewell to phlebotomy—use of placenta-derived drugs Laennec and Porcine for improving hereditary hemochromatosis without phlebotomy: a case report