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Neonatal Hemochromatosis Clinical Presentation

  • Author: Jatinder Bhatia, MBBS, FAAP; Chief Editor: Carmen Cuffari, MD  more...
 
Updated: Jul 08, 2016
 

History

Clues that the patient has or does not have neonatal hemochromatosis may not be present. Clues during pregnancy may indicate the diagnosis of neonatal hemochromatosis, but they are nonspecific.

Oligohydramnios is frequently observed. Polyhydramnios is less commonly observed.

Suspect neonatal hemochromatosis if the infant develops liver disease and all other metabolic, infectious, and hemorrhagic causes are eliminated. Decreased fetal movement has been reported.

Forty percent of infants born with neonatal hemochromatosis are premature. Intrauterine growth restriction (IUGR) occurs in 25% of infants with neonatal hemochromatosis.

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Physical Examination

The physical examination in the neonatal period is of little help but may reveal the following:

  • Placental edema
  • IUGR
  • Edema without ascites
  • Oliguria
  • Disseminated intravascular coagulation
  • Jaundice in the first few days after birth
  • Splenomegaly

Complications of the disease include liver failure, cardiac failure, respiratory failure, and disseminated intravascular coagulation.

Go to Dermatologic Manifestations of Hemochromatosis for complete information on this topic.

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Contributor Information and Disclosures
Author

Jatinder Bhatia, MBBS, FAAP Professor of Pediatrics, Medical College of Georgia, Georgia Regents University; Chief, Division of Neonatology, Director, Fellowship Program in Neonatal-Perinatal Medicine, Director, Transport/ECMO/Nutrition, Vice Chair, Clinical Research, Department of Pediatrics, Children's Hospital of Georgia

Jatinder Bhatia, MBBS, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Pediatric Society, American Society for Nutrition, American Society for Parenteral and Enteral Nutrition, Academy of Nutrition and Dietetics, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Gerber.

Coauthor(s)

Roland L Boyd, DO Neonatologist, Section of Neonatology, Neonatal Services, Ltd

Roland L Boyd, DO is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David A Piccoli, MD Chief of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia; Professor, University of Pennsylvania School of Medicine

David A Piccoli, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

Chief Editor

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching.

Additional Contributors

Hisham Nazer, MB, BCh, FRCP, , DTM&H Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, University of Jordan Faculty of Medicine, Jordan

Hisham Nazer, MB, BCh, FRCP, , DTM&H is a member of the following medical societies: American Association for Physician Leadership, Royal College of Paediatrics and Child Health, Royal College of Surgeons in Ireland, Royal Society of Tropical Medicine and Hygiene, Royal College of Physicians and Surgeons of the United Kingdom

Disclosure: Nothing to disclose.

References
  1. Adams PC, Searle J. Neonatal hemochromatosis: a case and review of the literature. Am J Gastroenterol. 1988 Apr. 83(4):422-5. [Medline].

  2. Muller-Berghaus J, Knisely AS, Zaum R, et al. Neonatal haemochromatosis: report of a patient with favourable outcome. Eur J Pediatr. 1997 Apr. 156(4):296-8. [Medline].

  3. Colletti RB, Clemmons JJ. Familial neonatal hemochromatosis with survival. J Pediatr Gastroenterol Nutr. 1988 Jan-Feb. 7(1):39-45. [Medline].

  4. McKusick VA. Mendelian Inheritance in Man. 5th ed. Baltimore, Md: Johns Hopkins University Press; 1978.

  5. Whitington PF. Gestational alloimmune liver disease and neonatal hemochromatosis. Semin Liver Dis. 2012 Nov. 32(4):325-32. [Medline].

  6. Liet JM, Urtin-Hostein C, Joubert M, et al. Neonatal hemochromatosis [in French]. Arch Pediatr. 2000 Jan. 7(1):40-4. [Medline].

  7. Whitington PF, Hibbard JU. High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis. Lancet. 2004 Nov 6-12. 364(9446):1690-8. [Medline].

  8. Sigurdsson L, Reyes J, Kocoshis SA, et al. Neonatal hemochromatosis: outcomes of pharmacologic and surgical therapies. J Pediatr Gastroenterol Nutr. 1998 Jan. 26(1):85-9. [Medline].

  9. Babor F, Hadzik B, Stannigel H, Mayatepek E, Hoehn T. Successful management of neonatal hemochromatosis by exchange transfusion and immunoglobulin: a case report. J Perinatol. 2013 Jan. 33(1):83-5. [Medline].

  10. Whitington PF, Kelly S, Ekong UD. Neonatal hemochromatosis: fetal liver disease leading to liver failure in the fetus and newborn. Pediatr Transplant. 2005 Oct. 9(5):640-5. [Medline].

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