Neonatal haemochromatosis: report of a patient with favourable outcome

Müller-Berghaus, Jan; Knisely, A. S.; Zaum, R.; Vierzig, Anne; Kirn, E.; Michalk, Dietrich; Roth, B.

doi:10.1007/s004310050604

Cited by 22 publications

(15 citation statements)

References 13 publications

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“…Our case did not demonstrate any clinical evidence for ocular and cardiac involvement; however, we could not reach conclusive data about the involvement of other organs since post-mortem examination could not be performed. Neonatal hemochromatosis recurs within sibships at a rate higher than expected for disorders transmitted in an autosomal recessive manner 6 .…”

Section: Discussionmentioning

confidence: 86%

A Case Report of Neonatal Diabetes Due to Neonatal Hemochromatosis

Çeti̇nkaya

Kunak

Kara

et al. 2010

Journal of Pediatric Endocrinology and Metabolism

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A 6-week-old girl, the first child of nonconsanguineous parents, was admitted to the hospital for evaluation of vomiting. She was small for gestational age (1500 g). On admission, she weighed 1830 g, and appeared dehydrated. The blood glucose was 880 mg/dL. Insulin and C-peptide levels were <1 μIU/ml and 0.1 pmol/L, respectively. Antibodies of diabetes were negative. The serum triglyceride level was markedly elevated (5322 mg/dL). After a few days of insulin therapy, the triglyceride levels dramatically decreased, but cholestasis persisted. A liver biopsy revealed diffuse iron deposition and the diagnosis of neonatal hemochromatosis was established. In neonatal hemochromatosis, diabetes may occur as a result of iron deposition in the pancreas. The coexistence of neonatal diabetes secondary to neonatal hemochromatosis with a fatal course during the infancy period has not been previously reported. In this report, an infant with neonatal diabetes secondary to neonatal hemochromatosis is presented as the first case in the literature involving the coexistence of these two conditions. KEY WORDSneonatal hemochromatosis, neonatal diabetes mellitus, hyperglycaemia, hyperlipidemia.

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Section: Discussionmentioning

confidence: 86%

A Case Report of Neonatal Diabetes Due to Neonatal Hemochromatosis

Çeti̇nkaya

Kunak

Kara

et al. 2010

Journal of Pediatric Endocrinology and Metabolism

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“…The treatment of NH is usually supportive, however this tactic, but for a few exceptions [8,9], is generally unsuccessful. An antioxidant-chelation 'cocktail' of deferoxamine, vitamin E, N-acetylcysteine, selenium, and prostaglandin-E1 has shown encouraging results [10] but, as yet, there is limited information as to which patients are most suitable to receive such a regimen [11,12].…”

Section: Discussionmentioning

confidence: 99%

Neonatal haemochromatosis associated with gastroschisis

et al. 2008

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We describe, to our knowledge, the first case of progressive neonatal liver failure due to neonatal haemochromatosis (NH) occurring in an infant with a gastroschisis and review the literature regarding these two conditions. A 1,665 g male infant with antenatally diagnosed gastroschisis was born with a severe coagulopathy, anaemia, thrombocytopenia, hypoglycaemia and jaundice. He developed progressive liver failure, complicated by necrotising enterocolitis. Serum ferritin was elevated at 1,459 microg/L. He died on day 40 and a limited post-mortem examination confirmed significant hepatic siderosis with fibrosis and cholestasis, and siderosis of the pancreas. Although no genetic aetiology for gastroschisis has been identified, an occasional inherited tendency has been observed. There is also evidence to support an autosomal recessive inheritance in NH.

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“…The iron overload in this type of hemochromatosis is reversible and not progressive 9 . Overwhelming sepsis is the most common cause of rapid clinical decline.…”

Section: Clinical Presentationmentioning

confidence: 93%

Neonatal Hemochromatosis - Immunological, Metabolic or Genetic?

Sher¹

2001

International Journal on Disability and Human Development

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Neonatal hemochromatosis (NH) is a rare, usually fatal, disorder defined by severe liver disease of intrauterine onset associated with extrahepatic siderosis that spares reticuloendothelial elements. The neonate presents within hours of birth with rapidly progressive liver failure, usually resulting in death by age 40 days. Diagnosis is based on clinical suspicion, serum iron studies, biopsies demonstrating hepatic hemosiderosis and siderosis of extrahepatic sites. MRI is a useful non-invasive modality for diagnosing hemosiderosis of the liver and extrahepatic sites. It has also been used antenatally for monitoring fetuses at risk for NH. The only curative treatment is liver transplantation and iron does not re-accumulate in the transplanted liver. The etiology of this condition in most patients is unknown. NH may not be a distinct clinical entity but rather may be the end point of a number of different causes of neonatal liver failure including alloimmune (maternal antibodies), inborn errors of hepatocyte function, or intrauterine infection. Further studies are required in order to determine the incidence and pathogenesis of this disorder and to provide guidelines regarding intrauterine diagnosis and monitoring and effective early management with newer treatment modalities.

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Neonatal haemochromatosis: report of a patient with favourable outcome

Cited by 22 publications

References 13 publications

A Case Report of Neonatal Diabetes Due to Neonatal Hemochromatosis

A Case Report of Neonatal Diabetes Due to Neonatal Hemochromatosis

Neonatal haemochromatosis associated with gastroschisis

Neonatal Hemochromatosis - Immunological, Metabolic or Genetic?

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