Swan Neck Deformity in a Neonate with Perinatal Asphyxia

Document Type : case report

Authors

1 Clinical Research Development Unit of Children Hospital, Tabriz University of Medical Sciences, Tabriz, Iran

2 Department of Pediatrics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran

3 allergy and clinical immunology Department , Tabriz university of medical science , Tabriz, Iran

Abstract

Background: Fingers’ swan neck deformity is an uncommon sign in neonates. This deformity has much pathology in adults such as prolonged rheumatoid diseases, tearing or weakness of ligaments or increased spasticity of muscles. In this article we report on a neonate case of swan neck deformity and discuss the possible disorders which have possibly caused this deformity. Our infant is a known case of asphyxia so we are also going to discuss that swan necks may be a complication or a comorbidity of asphyxia.
Case report: Our infant is a two month-old male preterm newborn, hospitalized due to seizures. The infant has a history of intrauterine growth retardation and perinatal asphyxia. On physical examination the patient was hypotonic and reflexes were decreased and there was a deformity on the hands which is very similar to swan neck deformity seen in adults. We requested different paraclinical modalities such as electroencephalogram, electromyography and nerve conduction velocity, computed tomography to rule out different possible diagnoses for the deformity (e.g., Ehlers Danlos syndrome, leukocyte adhesion deficiency). According to the results of the investigations, no reason was found for this deformity in the infant, and it seems that this deformity is one of the complications of asphyxia or has occurred in association with it.
Conclusion: Swan neck deformity is a very rare finding on neonates. It was observed in a newborn with perinatal asphyxia, and different commonly known causes of this deformity were ruled out in this newborn. Therefore, in our opinion, this deformity can possibly be one of the late manifestations of asphyxia in a newborn.

Keywords

References

  1. Endrich O, Rimle C, Zwahlen M, Triep K, Raio L, Nelle M. Asphyxia in the newborn: evaluating the accuracy of ICD coding, clinical diagnosis and reimbursement: observational study at a Swiss tertiary care center on routinely collected health data from 2012-2015. PloS one. 2017; 12(1):e0170691.
  2. Shah P, Riphagen S, Beyene J, Perlman M. Multiorgan dysfunction in infants with post-asphyxial hypoxic-ischaemic encephalopathy. Archives of Disease in Childhood-Fetal and Neonatal Edition. 2004; 89(2):F152-F5.
  3. Agarwal P, Shankaran S, Laptook AR, Chowdhury D, Lakshminrusimha S, Bonifacio SL, Natarajan G, Chawla S, Keszler M, Heyne RJ, Ambalavanan N, Walsh MC, Das A, Van Meurs KP; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Neonatal Research Network. Outcomes of infants with hypoxic ischemic encephalopathy and persistent pulmonary hypertension of the newborn: results from three NICHD studies. Journal of Perinatology. 2021; 41(3):502-11.
  4. Szakmar E, Jermendy A, El-Dib M. Respiratory management during therapeutic hypothermia for hypoxic-ischemic encephalopathy. Journal of Perinatology. 2019; 39(6):763-73.
  5. BEL FV, Walther F. Myocardial dysfunction and cerebral blood flow velocity following birth asphyxia. Acta Pædiatrica. 1990; 79(8‐9):756-62.
  6. Polglase GR, Ong T, Hillman NH. Cardiovascular alterations and multiorgan dysfunction after birth asphyxia. Clinics in perinatology. 2016; 43(3):469-83.
  7. Suzuki S, Morishita S, editors. Hypercoagulability and DIC in high-risk infants. Seminars in thrombosis and hemostasis; 1998: Copyright© 1998 by Thieme Medical Publishers, Inc.
  8. Christensen RD, Baer VL, Yaish HM. Thrombocytopenia in late preterm and term neonates after perinatal asphyxia. Transfusion. 2015; 55(1):187-96.
  9. Bauman ME, Cheung P-Y, Massicotte MP. Hemostasis and platelet dysfunction in asphyxiated neonates. The Journal of pediatrics. 2011; 158(2):e35-e9.
  10. Boutaibi N, Steggerda S, Smits‐Wintjens V, van Zwet E, Walther F, Lopriore E. Early‐onset thrombocytopenia in near‐term and term infants with perinatal asphyxia. Vox sanguinis. 2014; 106(4):361-7.
  11. Brown JK, Purvis RJ, Forfar JO, Cockburn F. Neurological Aspects of Perinatal Asphyxia. Developmental Medicine & Child Neurology. 1974; 16(5):567-80.
  12. Fox PM, Chang J. Treating the Proximal Interphalangeal Joint in Swan Neck and Boutonniere Deformities. Hand Clin. 2018; 34(2):167-76.
  13. Vedel PN, Tranum-Jensen J, Dahlin LB, Brogren E, Søe NH. [Deformities of the finger joints]. Ugeskr Laeger. 2017; 179(48).
  14. McKeon KE, Lee DH. Posttraumatic Boutonnière and Swan Neck Deformities. J Am Acad Orthop Surg. 2015; 23(10):623-32.
  15. Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genetics in medicine. 2010; 12(10):597-605.
  16. Levy H. Ehlers-Danlos syndrome, hypermobility type. Gene reviews. 1993.
  17. Pepin MG, Byers PH. Ehlers-Danlos syndrome, vascular type. GeneReviews at GeneTests: Medical Genetics Information Resource (database online). 1999:1993-2011.
  18. Giunta C, Superti-Furga A, Spranger S, Cole WG, Steinmann B. Ehlers-Danlos syndrome type VII: clinical features and molecular defects. JBJS. 1999; 81(2):225-38.
  19. Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, Paepe AD. The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC). American journal of medical genetics Part A. 2004; 131(1):18-28.
  20. Colige A, Sieron AL, Li S-W, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. The American Journal of Human Genetics. 1999; 65(2):308-17.
  21. Yeowell HN, Steinmann B. Ehlers-Danlos syndrome, kyphoscoliotic form. GeneReviews [Internet]; Adam, MP, Ardinger, HH, Pagon, RA, Wallace, SE, Bean, LJH, Stephens, K, Amemiya, A, Eds. 1993.
  22. Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe A. Total absence of the α2 (I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. Journal of medical genetics. 2006; 43(7):e36-e.
  23. Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, Kucharekova M, Boezeman JB, Schalkwijk J. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. The American Journal of Human Genetics. 2003; 73(1):214-7.
  24. Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, Haren BV, Miller WL, Bristow J. A recessive form of the Ehlers–Danlos syndrome caused by tenascin-X deficiency. New England Journal of Medicine. 2001; 345(16):1167-75.
  25. De Paepe A, Malfait F. The Ehlers–Danlos syndrome, a disorder with many faces. Clinical genetics. 2012; 82(1):1-11.
  26. McConnell K, Johnston L, Kerr C. Upper limb function and deformity in cerebral palsy: a review of classification systems. Developmental Medicine & Child Neurology. 2011; 53(9):799-805.
  27. Das J, Sharma A, Jindal A, Aggarwal V, Rawat A. Leukocyte adhesion defect: Where do we stand circa 2019? Genes & Diseases. 2020; 7(1):107-14.
  28. Etzioni A, Harlan J. Cell adhesion and leukocyte adhesion defects. Primary immunodeficiency diseases. 2007; 2:550-61.
  29. Etzioni A, Frydman M, Pollack S, Avidor I, Phillips ML, Paulson JC, Gershoni-Baruch R. Recurrent severe infections caused by a novel leukocyte adhesion deficiency. New England Journal of Medicine. 1992; 327(25):1789-92.
  30. Somech R, Stauber T. Rac2 Deficiency. Encyclopedia of Medical Immunology: Immunodeficiency Diseases: Springer; 2020. p. 569-71.
  31. Hsu AP, Donkó A, Arrington ME, Swamydas M, Fink D, Das A, Escobedo O, Bonagura V, Szabolcs P, Steinberg HN, Bergerson J, Skoskiewicz A, Makhija M, Davis J, Foruraghi L, Palmer C, Fuleihan RL, Church JA, Bhandoola A, Lionakis MS, Campbell S, Leto TL, Kuhns DB, Holland SM. Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects. Blood, the Journal of the American Society of Hematology. 2019; 133(18):1977-88.
  32. Lougaris V, Chou J, Beano A, Wallace JG, Baronio M, Gazzurelli L, Lorenzini T, Moratto D, Tabellini G, Parolini S, Seleman M, Stafstrom K, Xu H, Harris C, Geha RS, Plebani A. A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency. Journal of Allergy and Clinical Immunology. 2019; 143(4):1649-53. e3.
  33. Ono S. Functions of actin-interacting protein 1 (AIP1)/WD repeat protein 1 (WDR1) in actin filament dynamics and cytoskeletal regulation. Biochemical and biophysical research communications. 2018; 506(2):315-22. 
Journal of Pediatric Perspectives
Volume 11, Issue 1
January 2023
Pages 17314-17322

Files

Share

How to cite

Statistics