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Magnetic resonance imaging of neonatal hemochromatosis

  • Pediatric Body MRI
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Abstract

Neonatal hemochromatosis is a rare condition that causes neonatal liver failure, frequently resulting in fetal loss or neonatal death. It is thought that most cases of neonatal hemochromatosis are caused by gestational alloimmune liver disease (GALD), with neonatal hemochromatosis being a phenotype of GALD rather than a disease process. Extrahepatic siderosis in the pancreas, myocardium, thyroid and minor salivary gland is a characteristic feature of neonatal hemochromatosis. There is also sparing of the reticuloendothelial system with no iron deposition in the spleen. Hepatic and extrahepatic siderosis seen in neonatal hemochromatosis is from iron dysregulation secondary to liver damage rather than iron deposition causing the liver damage. The presence of extrahepatic siderosis in the pancreas and thyroid is diagnostic of neonatal hemochromatosis and can be detected noninvasively by multi-echo gradient recalled echo (GRE) T2*-weighted sequence of MRI within hours of birth. This helps to expedite the treatment in the form of intravenous immunoglobulin and exchange transfusion, which improves the survival in these babies. The finding of hepatic siderosis is nonspecific and does not help in the diagnosis of neonatal hemochromatosis because it is seen with other causes of advanced liver disease.

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References

  1. Feldman AG, Whitington PF (2013) Neonatal hemochromatosis. J Clin Exp Hepatol 3:313–320

    Article  Google Scholar 

  2. Zozaya Nieto C, Fernández Caamaño B, Muñoz Bartolo G et al (2017) Presenting features and prognosis of ischemic and nonischemic neonatal liver failure. J Pediatr Gastroenterol Nutr 64:754–759

    Article  CAS  Google Scholar 

  3. Bitar R, Thwaites R, Davison S et al (2017) Liver failure in early infancy: aetiology, presentation, and outcome. J Pediatr Gastroenterol Nutr 64:70–75

    Article  CAS  Google Scholar 

  4. Lone KS, AlSaleem B, Asery A et al (2020) Liver failure among young Saudi infants: etiology, clinical presentation, and outcome. J Pediatr Gastroenterol Nutr 70:e26–e32

    Article  Google Scholar 

  5. Heissat S, Collardeau-Frachon S, Baruteau J et al (2015) Neonatal hemochromatosis: diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure. J Pediatr 166:66–73

    Article  Google Scholar 

  6. Rand EB, Karpen SJ, Kelly S et al (2009) Treatment of neonatal hemochromatosis with exchange transfusion and intravenous immunoglobulin. J Pediatr 155:566–571

    Article  CAS  Google Scholar 

  7. Alenezi K, Kamath BM, Siddiqui I et al (2018) Magnetic resonance imaging findings in neonatal hemochromatosis. J Pediatr Gastroenterol Nutr 66:581–587

    Article  Google Scholar 

  8. Hayes AM, Jaramillo D, Levy HL, Knisely AS (1992) Neonatal hemochromatosis: diagnosis with MR imaging. AJR Am J Roentgenol 159:623–625

    Article  CAS  Google Scholar 

  9. Silver MM, Beverley DW, Valberg LS et al (1987) Perinatal hemochromatosis. Clinical, morphologic, and quantitative iron studies. Am J Pathol 128:538–554

    CAS  PubMed  PubMed Central  Google Scholar 

  10. Moerman P, Pauwels P, Vandenberghe K et al (1990) Neonatal haemochromatosis. Histopathology 17:345–351

    Article  CAS  Google Scholar 

  11. Collardeau-Frachon S, Heissat S, Bouvier R et al (2012) French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations. Pediatr Dev Pathol 15:450–470

    Article  CAS  Google Scholar 

  12. Pan X, Kelly S, Melin-Aldana H et al (2010) Novel mechanism of fetal hepatocyte injury in congenital alloimmune hepatitis involves the terminal complement cascade. Hepatology 51:2061–2068

    Article  Google Scholar 

  13. Debray FG, de Halleux V, Guidi O et al (2012) Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease. Pediatrics 129:e1076–e1079

    Article  Google Scholar 

  14. Tsunoda T, Inui A, Kawamoto M et al (2015) Neonatal liver failure owing to gestational alloimmune liver disease without iron overload. Hepatol Res 45:601–605

    Article  CAS  Google Scholar 

  15. Sciard C, Collardeau-Frachon S, Atallah A et al (2019) Prenatal imaging features suggestive of liver gestational allo immune disease. J Gynecol Obstet Hum Reprod 48:61–64

  16. Whitington PF, Pan X, Kelly S et al (2011) Gestational alloimmune liver disease in cases of fetal death. J Pediatr 159:612–616

    Article  Google Scholar 

  17. Dubruc E, Nadaud B, Ruchelli E et al (2017) Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis. Pediatr Res 81:712–721

    Article  CAS  Google Scholar 

  18. Whitington PF, Kelly S (2008) Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. Pediatrics 121:e1615–e1621

    Article  Google Scholar 

  19. Lopriore E, Mearin ML, Oepkes D et al (2013) Neonatal hemochromatosis: management, outcome, and prevention. Prenat Diagn 33:1221–1225

    Article  Google Scholar 

  20. Whitington PF, Kelly S, Taylor SA et al (2018) Antenatal treatment with intravenous immunoglobulin to prevent gestational alloimmune liver disease: comparative effectiveness of 14-week versus 18-week initiation. Fetal Diagn Ther 43:218–225

    Article  Google Scholar 

  21. Knisely AS (2014) Patent ductus venosus and acute liver failure in the neonate: consider neonatal hemochromatosis with liver scarring. Liver Transpl 20:124

    Article  CAS  Google Scholar 

  22. Schoennagel BP, Remus CC, Wedegaertner U et al (2014) Quantification of prenatal liver and spleen iron in a sheep model and assessment of iron stores in a human neonate with neonatal hemochromatosis using R2* mapping. Magn Reson Med Sci 13:167–173

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, ON, M5G 1X8, Canada

    Govind B. Chavhan

  2. Medical Imaging Department, University of Toronto, Toronto, ON, Canada

    Govind B. Chavhan

  3. Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, ON, Canada

    Binita M. Kamath

  4. Department of Pediatrics, University of Toronto, Toronto, ON, Canada

    Binita M. Kamath, Iram Siddiqui & Christopher Tomlinson

  5. Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada

    Iram Siddiqui

  6. Division of Neonatology, The Hospital for Sick Children, Toronto, ON, Canada

    Christopher Tomlinson

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  1. Govind B. Chavhan
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  2. Binita M. Kamath
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  3. Iram Siddiqui
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  4. Christopher Tomlinson
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Correspondence to Govind B. Chavhan.

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Chavhan, G.B., Kamath, B.M., Siddiqui, I. et al. Magnetic resonance imaging of neonatal hemochromatosis. Pediatr Radiol 52, 334–339 (2022). https://doi.org/10.1007/s00247-021-05008-9

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  • DOI: https://doi.org/10.1007/s00247-021-05008-9

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