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Alagille syndrome case report: implications for forensic pathology and anthropology

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Abstract

This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on the skeletal findings that emerged during autopsy. In the case report, distinction is made between a possible accidental or non-accidental nature of the injuries and the characteristics of the injury have been interpreted in the light of the existing data on Alagille syndrome. In conclusion, the death was documented as accidental since abnormalities in the skeletal system evidenced during autopsy have predisposed the death of the child albeit through a very mild head trauma. The case report evidences the importance of studying features of skull macro- and microstructure in patients with Alagille syndrome, which have been, until now, underreported in literature and which might contribute to fracture vulnerability in these patients. Although rare, Alagille syndrome is a condition that should be known to forensic medicine practitioners and whose features and peculiarities must be taken into consideration in pediatric autopsy and suspected child abuse cases.

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References

  1. Busuttil A, Keeling JW (eds) (2008) Paediatric forensic medicine and pathology. Hodder Arnold, London

    Google Scholar 

  2. Services UDoHaH (2012) Child maltreatment 2012. US Department of Health and Human Services, US

  3. Love JC, Sanchez LA (2009) Recognition of skeletal fractures in infants: an autopsy technique. J Forensic Sci 54:1443–1446. doi:10.1111/j.1556-4029.2009.01148.x

    Article  PubMed  Google Scholar 

  4. Ross AH, Abel SM (eds) (2011) The juvenile skeleton in forensic abuse investigation. Humana Press, New York

    Google Scholar 

  5. Tenney-Soeiro R, Wilson C (2004) An update on child abuse and neglect. Curr Opin Pediatr 16:233–237

    Article  PubMed  Google Scholar 

  6. Pandya NK, Baldwin K, Kamath AF, Wenger DR, Hosalkar HS (2011) Unexplained fractures: child abuse or bone disease? A systematic review. Clin Orthop Relat Res 469:805–812. doi:10.1007/s11999-010-1578-z

    Article  PubMed Central  PubMed  Google Scholar 

  7. Ross AH, Juarez CA (2014) A brief history of fatal child maltreatment and neglect. Forensic Sci Med Pathol. doi:10.1007/s12024-014-9531-1

    Google Scholar 

  8. Turnpenny PD, Ellard S (2012) Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 20:251–257. doi:10.1038/ejhg.2011.181

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  9. Subramaniam P, Knisely A, Portmann B, Qureshi SA, Aclimandos WA, Karani JB, Baker AJ (2011) Diagnosis of Alagille syndrome—25 years of experience at King’s College Hospital. Pediatr Gastroenterol Nutr 52:84–89. doi:10.1097/MPG.0b013e3181f1572d

    Article  CAS  Google Scholar 

  10. Ryan RS, Myckatyn SO, Reid GD, Munk P (2003) Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review. Skeletal Radiol 32:489–491. doi:10.1007/s00256-003-0651-z

    Article  CAS  PubMed  Google Scholar 

  11. Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID (2002) Craniosynostosis in Alagille syndrome. Am J Med Genet 112:176–180. doi:10.1002/ajmg.10608

    Article  PubMed  Google Scholar 

  12. Yilmaz S, Turhan T, Mutluer S, Aydogdu S (2013) The association of Alagille syndrome and craniosynostosis. Pediatr Neurol 48:146–148. doi:10.1016/j.pediatrneurol.2012.10.014

    Article  PubMed  Google Scholar 

  13. Couceiro J, Gomez B, Sanmartin M (2014) Alagille’s syndrome associated with proximal radio-ulnar synostosis: clinical case and a literature review. Rev Esp Cir Ortop Traumatol. doi:10.1016/j.recot.2014.05.007

    PubMed  Google Scholar 

  14. Bales CB, Kamath BM, Munoz PS, Nguyen A, Piccoli DA, Spinner NB, Horn D, Shults J, Leonard MB, Grimberg A, Loomes KM (2010) Pathologic lower extremity fractures in children with Alagille syndrome. J Pediatr Gastroenterol Nutr 51:66–70. doi:10.1097/MPG.0b013e3181cb9629

    Article  PubMed Central  PubMed  Google Scholar 

  15. Boos SC (2003) Abusive head injury and shaken baby syndrome. In: Peterson MS, Durfee M, Coulter K (eds) Child abuse and neglect: guidelines for identification, assessment, and case management. Volcano Press Inc., Volcano, pp 34–41

    Google Scholar 

  16. De Russo PA, Spevak MR, Schwarz KB (2003) Fractures in biliary atresia misinterpreted as child abuse. Pediatrics 112:185–188. doi:10.1542/peds.112.1.185

    Article  Google Scholar 

  17. Zanotti S, Canalis E (2012) Notch regulation of bone development and remodeling and related skeletal disorders. Calcif Tissue Int 90:69–75. doi:10.1007/s00223-011-9541-x

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  18. Kemp AM, Dunstan F, Harrison S, Morris S, Mann M, Rolfe K, Datta S, Thomas DP, Sibert JR, Maguire S (2008) Patterns of skeletal fractures in child abuse: systematic review. BMJ 337:a1518. doi:10.1136/bmj.a1518

    Article  PubMed Central  PubMed  Google Scholar 

  19. Ross AH, Abel SM, Radisch D (2009) Pattern of injury in child fatalities resulting from child abuse. Forensic Sci Int 188:99–102. doi:10.1016/j.forsciint.2009.03.021

    Article  PubMed  Google Scholar 

  20. Love CJ, Derrick SM, Wiersema JM (2011) Skeletal atlas of child abuse. Humana Press, New York

    Book  Google Scholar 

  21. DiMaio DJ, DiMaio VJM (1989) Forensic pathology. Elsevier, New York

    Google Scholar 

  22. Worlock P, Stower M, Barbor P (1986) Patterns of fractures in accidental and non-accidental injury in children: a comparative study. Br Med J (Clin Res Ed) 293:100–102

    Article  CAS  Google Scholar 

  23. Meservy CJ, Towbin R, McLaurin RL, Myers PA, Ball W (1987) Radiographic characteristics of skull fractures resulting from child abuse. AJR Am J Roentgenol 149:173–175. doi:10.2214/ajr.149.1.173

    Article  CAS  PubMed  Google Scholar 

  24. Brown JK, Minns RA (1993) Non-accidental head injury, with particular reference to whiplash shaking injury and medico-legal aspects. Dev Med Child Neurol 35:849–869

    Article  CAS  PubMed  Google Scholar 

  25. Wheeler DS, Shope TR (1997) Depressed skull fracture in a 7-month-old who fell from bed. Pediatrics 100:1033–1034

    Article  CAS  PubMed  Google Scholar 

  26. Reece RM, Sege R (2000) Childhood head injuries: accidental or inflicted? Arch Pediatr Adolesc Med 154:11–15

    CAS  PubMed  Google Scholar 

  27. Sawyer JR, Flynn JM, Dormans JP, Catalano J, Drummond DS (2000) Fracture patterns in children and young adults who fall from significant heights. J Pediatr Orthop 20:197–202

    CAS  PubMed  Google Scholar 

  28. Rogers LF (1992) Radiology of skeletal trauma. Churchill Livingstone, New York

    Google Scholar 

  29. Wedel WL, Galloway A (eds) (2014) Broken bones. Charles C Thomas, Springfield

  30. Liu-Shindo M, Hawkins DB (1989) Basilar skull fractures in children. Int J Pediatr Otorhinolaryngol 17:109–117

    Article  CAS  PubMed  Google Scholar 

  31. Albert M, Drvaric D (1993) Injuries resulting from pathologic forces: child abuse. In: MacEwan G, Kasser J, Heinrich S (eds) Pediatric fractures: a practical approach to assessment and treatment. Wiliams and Wilkins, Baltimore

    Google Scholar 

  32. Carty H (1997) Non-accidental injury: a review of the radiology. Eur Radiol 7:1365–1376

    Article  CAS  PubMed  Google Scholar 

  33. Petaros A, Slaus M, Coklo M, Sosa I, Cengija M, Bosnar A (2013) Retrospective analysis of free-fall fractures with regard to height and cause of fall. Forensic Sci Int 226:290–295. doi:10.1016/j.forsciint.2013.01.044

    Article  PubMed  Google Scholar 

  34. Okuno T, Takahashi H, Shibahara Y, Hashida Y, Sando I (1990) Temporal bone histopathologic findings in Alagille’s syndrome. Arch Otolaryngol Head Neck Surg 116:217–220

    Article  CAS  PubMed  Google Scholar 

  35. Koch B, Goold A, Egelhoff J, Benton C (2006) Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings. Pediatr Radiol 36:977–979. doi:10.1007/s00247-006-0230-2

    Article  PubMed  Google Scholar 

  36. Hoffenberg EJ, Narkewicz MR, Sondheimer JM, Smith DJ, Silverman A, Sokol RJ (1995) Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr 127:220–224

    Article  CAS  PubMed  Google Scholar 

  37. Tumialan LM, Dhall SS, Tomak PR, Barrow DL (2006) Alagille syndrome and aneurysmal subarachnoid hemorrhage. Case report and review of the literature. Pediatr Neurosurg 42:57–61. doi:10.1159/000089512

    Article  PubMed  Google Scholar 

  38. Wescott DJ (2013) Biomechanics of bone trauma. In: Siegel JA, Saukko PJ, Houck MM (eds) Encyclopedia of forensic sciences. Academic, New York, pp 83–88

    Chapter  Google Scholar 

  39. Mazess RB (1987) Bone density in diagnosis of osteoporosis: thresholds and breakpoints. Calcif Tissue Int 41:117–118

    Article  Google Scholar 

  40. Nield LS, Larzo MR, Kamat DM (2006) Fractures from short falls: implications in children under age 5. Consultant for pediatricians 5 (5)

  41. Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz ID (2004) Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 109(11):1354–1358. doi:10.1161/01.CIR.0000121361.01862.A4

    Article  PubMed  Google Scholar 

  42. Emerick KM, Krantz ID, Kamath BM, Darling C, Burrowes DM, Spinner NB, Whitington PF, Piccoli DA (2005) Intracranial vascular abnormalities in patients with Alagille syndrome. J Pediatr Gastroenterol Nutr 41:99–107

    Article  PubMed  Google Scholar 

  43. Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA (1999) Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 29(3):822–829. doi:10.1002/hep.510290331

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

The authors would like to thank Prof. Sue Black (Centre for Anatomy and Human Identification, University of Dundee) for her affability, for sharing her experience and knowledge on juvenile osteology, and for her suggestions during the finalization of the manuscript. The authors would also like to thank the two reviewers that helped to strengthen the manuscript with their comments and suggestions.

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Authors and Affiliations

  1. Department of Forensic Medicine and Criminalistics, Rijeka University School of Medicine, Braće Branchetta 20, HR-51000, Rijeka, Croatia

    Anja Petaros & Valter Stemberga

  2. Department of Radiology, University Hospital Rijeka, Rijeka, Croatia

    Damir Miletic

  3. Department of Pathological Anatomy, Rijeka University School of Medicine, Rijeka, Croatia

    Sanja Stifter

  4. Anthropological Centre, Croatian Academy of Sciences and Arts, Zagreb, Croatia

    Mario Slaus

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  1. Anja Petaros
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  2. Damir Miletic
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  4. Mario Slaus
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  5. Valter Stemberga
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Correspondence to Anja Petaros.

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Petaros, A., Miletic, D., Stifter, S. et al. Alagille syndrome case report: implications for forensic pathology and anthropology. Int J Legal Med 129, 543–549 (2015). https://doi.org/10.1007/s00414-014-1072-3

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  • DOI: https://doi.org/10.1007/s00414-014-1072-3

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