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DOI: 10.1055/a-2562-1814
Infant with Known Dandy–Walker Malformation and Poor Feeding Found to Have Additional Diagnosis
Abstract
Background
There are few reported cases of Dandy–Walker Malformation associated with Noonan syndrome (NS).
Case presentation
We herein present a case of a late preterm infant with Dandy–Walker malformation (DWM) that underwent a workup for feeding difficulty and was found to have NS. This is one of the few reported cases of DWM with NS having a PTPN11 gene mutation.
Conclusion
Overlapping clinical features may disguise diagnosis in infants with multiple pathologies.
Publication History
Received: 05 December 2024
Accepted: 06 March 2025
Accepted Manuscript online:
19 March 2025
Article published online:
08 April 2025
© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)
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References
- 1 Ladeiras R, Nunes JS, Duarte C, Ribeiro V, Pereira E. Case report of Dandy-Walker malformation and Noonan syndrome: correlation of prenatal findings with neonatal evaluations. Acta Obstet Ginecol Port 2022; 16: 303-306
- 2 Lavrador M, Fadiga L, Ferreira MM, Barros L, Paiva I. Noonan syndrome, Dandy-Walker variant, and delayed puberty: a rare association. Endocr Abstr 2022; 81: EP881
- 3 Yi Z, Xue J, Song Z, Li F, Yang C, Zhang Y. A patient with a PTPN11 gene variant complicated with Chiari I malformation and syringomyelia and a review of literatures. Int J Dev Neurosci 2025; 85 (01) e10396
- 4 Weinstock NI, Sadler L. The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: a case report. Am J Med Genet A 2022; 188 (01) 364-368
- 5 van der Burgt I. Noonan syndrome. Orphanet J Rare Dis 2007; 2: 4
- 6 Bhambhani V, Muenke M. Noonan syndrome. Am Fam Physician 2014; 89 (01) 37-43
- 7 Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab 2011; 25 (01) 161-179
- 8 Zamora EA, Das JM, Ahmad T. Dandy-Walker malformation. [Updated 2023 Nov 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024. . Accessed October 15, 2024 at: https://www.ncbi.nlm.nih.gov/books/NBK538197/
- 9 Monteagudo A. Society for Maternal-Fetal Medicine (SMFM). Dandy-Walker malformation. Am J Obstet Gynecol 2020; 223 (06) B38-B41
- 10 Stambolliu E, Ioakeim-Ioannidou M, Kontokostas K, Dakoutrou M, Kousoulis AA. The most common comorbidities in Dandy-Walker syndrome patients: a systematic review of case reports. J Child Neurol 2017; 32 (10) 886-902
- 11 Sharland M, Burch M, McKenna WM, Paton MA. A clinical study of Noonan syndrome. Arch Dis Child 1992; 67 (02) 178-183
- 12 Draaisma JMT, Drossaers J, van den Engel-Hoek L, Leenders E, Geelen J. Young children with Noonan syndrome: evaluation of feeding problems. Eur J Pediatr 2020; 179 (11) 1683-1688
- 13 Zenker M, Edouard T, Blair JC, Cappa M. Noonan syndrome: improving recognition and diagnosis. Arch Dis Child 2022; 107 (12) 1073-1078
- 14 Tiemens DK, van Haaften L, Leenders E. et al. Feeding problems in patients with Noonan syndrome: a narrative review. J Clin Med 2022; 11 (03) 754
- 15 Totoiu MO. Chapter 7: Developmental and neurological features of Noonan syndrome. In: Bhangoo A. ed. Noonan Syndrome. Cambridge: Academic Press; 2019: 93-111