Abstract: Acute liver failure in the newborn is relatively rare but often fatal. The broadest definition of acute liver failure is failure of the vital functions of the liver occurring within weeks or a few months of the onset of clinical liver disease. Ritter and Antonios O. Felson and Yuqing Zhang. Pages 1441-1446. Select 173 - Clinical features of osteoarthritis. For a pedigree to be included in this study, the woman must have been accepted for antenatal therapy, and, thus, the index case had neonatal hemochromatosis without demonstrable alternate etiology.1, 3, 4 Diagnosis of neonatal hemochromatosis in the index case was made by standard criteria: clinically by severe liver disease with demonstration. Hereditary hemochromatosis (HH) is a genetic disorder of iron overload. In the classic form, a C282Y mutation in the HFE gene inappropriately increases iron absorption from the duodenum. Other forms of HH involve mutations in various molecules that regulate iron homeostasis.
Neonatal hemochromatosis (NH) has been defined as neonatal liver disorder accompanied by extrahepatic siderosis, and gestational alloimmune liver disease (GALD) is the main cause of NH. We report an atypical case of NH that may have gone underdiagnosed. A male infant was born at term after an uneventful antenatal period. At 7 h of life, he was noted to be tachypneic. Chest X-ray was normal and capillary blood gas analysis showed severe lactic acidosis. An extended blood test showed elevated levels of tyrosine and methionine that, after excluding an inborn error of metabolism, led to the diagnosis of acute liver failure.
BACKGROUND: Neonatal hemochromatosis (NH) is a rare but serious disease causing fulminant hepatic failure. The recurrence rate of NH in a subsequent infant of a mother with an affected infant is 70-90%.
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Recently, antenatal maternal high-dose intravenous immunoglobulin (IVIG) treatment has been reported to be effective for preventing NH recurrence. However, data on the IgG concentrations during this treatment are limited. OBJECTIVE: We report a Japanese experience and present a pharmacokinetic simulation model of IgG during IVIG treatment. Neonatal liver failure (NLF) is a rare diagnosis but carries with it significant risks of mortality and morbidity. Common etiologies for NLF include metabolic causes, gestational alloimmune liver disease (GALD or neonatal hemochromatosis), and viral infections. We report a case of liver failure in a premature infant with abnormal iron profile within 48 hours of birth. Lack of accepted guidelines for the initial management of severe jaundice with a high direct component in the first week after birth made treatment challenging.
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the latest American College of Medical Genetics and Genomics (ACMG) guideline; only pathogenic and likely pathogenic variants were confirmed by orthologous methods before being reported. BACKGROUND: There are limited data on utility of magnetic resonance imaging (MRI) in the assessment of suspected neonatal hemochromatosis (NH). OBJECTIVES: The aim of the study was to present our experience with utilization of multi-echo sequence MRI technique in the evaluation of NH and to compare MRI findings in infants with and without NH.
METHODS: MRI performed for suspected NH were retrospectively reviewed to note the presence and severity of iron deposition (ID) in liver, spleen, pancreas, and kidneys on multi-echo sequences. Neonatal acute liver failure is a rare, very severe disease with a high rate of mortality. It is clinically and etiologically different from acute liver failure seen in older children and adults. Coagulopathy with an international normalized ratio ≥ 3 is the critical parameter that defines it. The most common causes are fetal alloimmune hepatitis, previously called neonatal hemochromatosis, viral infections, metabolic disorders, and hemophagocytic lymphohistiocytosis. There is a group of treatable diseases that require a very early diagnosis for the prescription of an adequate treatment. Neonatal liver failure (NLF) is a major cause of neonatal morbidity and mortality, presenting as acute liver failure and/or congenital cirrhosis.
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