Idiopathic neonatal iron-storage disease

Barnard, J. A.; Manci, Elizabeth A.

doi:10.1016/0016-5085(91)90097-5

Cited by 28 publications

(14 citation statements)

References 21 publications

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“…Basal iron metabolism in the parents (serum iron, iron binding capacity, and ferritin) was normal other than low serum iron levels in the mother (9-5 gmol/l, normal range 14-31 ,umol/l). Liver function tests in both parents were normal other than minimally raised bilirubin levels in the father (25 itmol/l, normal range [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] ,umol/l). Basic metabolic screening (urea and creatinine, electrolytes, amino acids, caeruloplasmin) was all normal as were the karyotypes of both parents.…”

Section: Family Historymentioning

confidence: 99%

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.

Verloes¹,

Temple²,

Hubert³

et al. 1996

Journal of Medical Genetics

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We report two families in which neonatal haemochromatosis was observed in half sibs. In the first family, two successive girls were born of different fathers. In the second family, an affected brother and sister were followed by an affected half brother born after donor insemination. These observations, as well as a previous abstract describing two affected half sisters, revive the debate over the inheritance of neonatal haemochromatosis. Incomplete penetrance or gonadal mosaicism for a dominant disorder, a maternal "environmental factor", or mitochondrial defect may be more suitable explanations than autosomal recessive inheritance in this condition. Alternative modes of fertilisation, such as donor insemination or in vitro fertilisation with donor eggs, should be considered with caution. (JtMed Genet 1996;33:444-449) Key words: neonatal haemochromatosis; half sibs; maternal inheritance.Neonatal haemochromatosis (NH) is a polyvisceral iron storage disorder of prenatal onset. It is characterised by a rapidly progressive hepatic insufficiency with prenatal or perinatal onset and a specific distribution of iron overload similar to that seen in adult chromosome 6 326,mol/l under treatment. However, serum iron increased to 228 itmol/l and liver insufficiency persisted. She had disseminated intravascular coagulation with fibrin degradation products at 160 gg/ml (normal <20).In addition to standard treatment for liver failure, she was given continuous infusion factors II, V, VII, IX, and fibrinogen at a dosage of 50 IU/kg/day without improvement. Death resulted from massive intracranial haemorrhage and multivisceral failure on day 5.Postmortem liver biopsy showed micronodular cirrhosis, mild ductular proliferation and portal inflammation, extramedullary haematopoiesis, and multinucleated hepatocytes. Iron overload was obvious and was concentrated in hepatocytes, without iron accumulation in Kupffer cells. Iron overload was found at necropsy in the pancreas, stomach, adrenal glands, kidneys, thyroid, heart, and salivary glands. AETIOLOGICAL INVESTIGATIONSAs recommended elsewhere,8 appropriate blood and urine tests were performed before death in both children. Combined with postmortem pathological examination, tyrosinaemia, galactosaemia, hereditary fructose intolerance, organic acidaemias, Niemann-Pick type C, glycogenosis I, III, and IV, ocl antitrypsin deficiency, peroxisomal disorders, primary defects of bile acid synthesis, cystic fibrosis, Byler disease, Wolman disease, and neonatal infections were excluded. The mother was aged 22 at the birth of patient 1. Her liver function and basal iron metabolism, assessed six months after the birth of patient 2, showed slightly raised iron (2-04 mg/l, normal range 0 6-1 5) and transferrin (4-12 g/l, normal range from 2-4-3-8 1). On CT scan, attenuation of the liver was normal and the difference from splenic attenuation was not significant. Hepatic, renal, splenic, and adrenal iron storage, estimated through abdominal MRI scan, by TI, T2, and gradient echo sequenc...

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Section: Family Historymentioning

confidence: 99%

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.

Verloes¹,

Temple²,

Hubert³

et al. 1996

Journal of Medical Genetics

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“…Neonatal hemochromatosis has an unclear etiology and is likely not a single disorder. Despite the lack of a clear etiology and pathogenesis and the possibility that it is heterogeneous, the phenotype of NH now is widely recognized and universally found to have an aggressive course and to carry a poor prognosis [Bernard and Manci, 1991;Murray and Kowdley, 2001]. Intractable diarrhea is defined as protracted, severe chronic diarrhea associated with severe malnutrition not easily resolved by conventional management.…”

Section: Introductionmentioning

confidence: 99%

Tricho‐hepato‐enteric syndrome: A case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality

Dweikat¹,

Sultan²,

Maraqa

et al. 2007

American J of Med Genetics Pt A

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We report on a female infant with congenital iron storage disease, facial dysmorphism, intractable diarrhea, and hair abnormalities. The intractable diarrhea failed to resolve despite total parenteral nutrition and complete bowel rest for more than 3 weeks. The patient also had elevated liver enzymes and failure to thrive. Histopathologic examination of the liver revealed marked iron deposits in hepatocytes with portal edema, fibrosis, and septal formation. No metabolic abnormalities could be detected. She died at the age of 10 months. We suggest that this case could have a specific iron storage syndrome that is similar to the two sibs reported by Stankler et al. [1982; Arch Dis Child 57:212-216] and Verloes et al. [1997; Am J Med Genet 68:391-395]. The condition was called the tricho-hepato-enteric (THE) syndrome.

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“…It is not known, however, how early in gestation these abnormalities could confidently be detected by biopsy 5 . The histological changes are established at birth.…”

Section: Antenatal Diagnosismentioning

confidence: 99%

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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Idiopathic neonatal iron-storage disease

Cited by 28 publications

References 21 publications

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.

Tricho‐hepato‐enteric syndrome: A case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality

Neonatal Hemochromatosis - Immunological, Metabolic or Genetic?

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