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Keywords = neonatal hemochromatosis immunoglobulin therapy

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6 pages, 325 KiB  
Case Report
Successful IVIG Treatment in Neonatal Hemochromatosis Without Extrahepatic Siderosis: A Case Report
by Gwan Yong Lim, Ashta Thashin, Gayathri Joy, Ithamar Cheyne and Małgorzata Mikaszewska-Sokolewicz
Reports 2025, 8(2), 53; https://doi.org/10.3390/reports8020053 - 23 Apr 2025
Viewed by 315
Abstract
Background and Clinical Significance: Neonatal hemochromatosis is a rare iron overload disorder that causes severe liver injury in newborns, typically with extrahepatic siderosis. Diagnosis of neonatal hemochromatosis is usually confirmed through a biopsy and MRI, demonstrating deposition of iron and liver failure. [...] Read more.
Background and Clinical Significance: Neonatal hemochromatosis is a rare iron overload disorder that causes severe liver injury in newborns, typically with extrahepatic siderosis. Diagnosis of neonatal hemochromatosis is usually confirmed through a biopsy and MRI, demonstrating deposition of iron and liver failure. However, in severe patients who are not able to undergo biopsy, the diagnostic and management method remains unknown. Case Presentation: We present an unusual case of neonatal hemochromatosis without extrahepatic iron deposition in a 9-day-old male who showed signs of liver failure and respiratory distress. This case suggests that when the risks of biopsy outweigh its benefits, a diagnosis may be reached based on clinical evaluation and MRI findings. Early high-dose intravenous immunoglobulin therapy improved liver function and led to recovery, highlighting the need for early therapeutic intervention in neonatal hemochromatosis. Conclusions: This case highlights that the absence of extrahepatic siderosis cannot exclude a diagnosis of neonatal hemochromatosis, and high doses of IVIG should be administered promptly when neonatal hemochromatosis is suspected to maximize therapeutic effectiveness. Full article
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8 pages, 2368 KiB  
Case Report
Gestational Alloimune Liver Disease—Case Report
by Mihaela Demetrian, Radu Botezatu, Nicolae Gică, Valentina Safta, Georgeta Grecu, Vlad Dima, Andreea Daniela Binișor and Anca Panaitescu
Children 2023, 10(1), 66; https://doi.org/10.3390/children10010066 - 28 Dec 2022
Viewed by 3650
Abstract
We describe the case of a newborn with the antenatal onset of hepatic failure, which has been investigated for all etiologies that can cause liver damage: infectious, metabolic, genetic, and immune. The lack of a clear answer regarding the etiology and the response [...] Read more.
We describe the case of a newborn with the antenatal onset of hepatic failure, which has been investigated for all etiologies that can cause liver damage: infectious, metabolic, genetic, and immune. The lack of a clear answer regarding the etiology and the response to immunoglobulin therapy led us to the diagnosis of gestational alloimmune liver disease. Gestational alloimunne liver disease is an uncommon and very severe cause of neonatal acute liver failure (NALF). Initially, the therapeutic approach aimed at correcting the effects produced by iron loading, respectively, iron chelators and antioxidants. Since all aspects of this case indicated characteristic features typical for GALD, therapy with intravenous immunoglobulins (IVIG) was introduced. If such therapy alters the prognosis of newborns with GALD, the etiology and pathophysiology remain uncertain. However, in cases regarding severe hepatic failure with the perinatal onset and apparently unknown etiology, immunoglobulin or exchange transfusion therapy should be taken into account even before finalizing all the etiological investigations. The prognosis is uncertain and varies between clinical resolution, chronic hepatitis/cirrhosis, and the need for a hepatic transplant, and overall survival depends on prompt therapeutic intervention. Full article
(This article belongs to the Section Pediatric Neonatology)
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