NEONATAL HEMOCHROMATOSIS: A RARE CASE REPORT WITH CONSANGUINITY

Background: Neonatal hemochromatosis (NH) is a rare and severe liver disease of mainly intra-uterine onset, characterized by neonatal liver failure, hepatic and extrahepatic iron acquisition.NH is also called as Gestational alloimmune liver disease (GALD). This leads to an altered iron metabolism with resulting siderosis ,multi-organ failure and infants may be stillborn or present with advance, overwhelming liver disease. The disease represents the most common cause of liver failure in neonates and is also the most common indication for neonatal liver transplantation. We present an neonate who died at 15 days of age,and who was found to have massive iron overload in the liver. Initial treatment consisted of chelation therapy and antioxidants, but lack of laboratory and clinical improvement led to an exchange transfusion followed by intravenous immunoglobulin (IVIG). Irrespective of all above treatment no improvement of general condition of the patient. The unfavourable course of the disease is described in this case report.

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Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review

Case Reports in Pediatrics ◽

10.1155/2017/7432859 ◽

2017 ◽

Vol 2017 ◽

pp. 1-7 ◽

Cited By ~ 7

Author(s):

Carolina Roos Mariano da Rocha ◽

Renata Rostirola Guedes ◽

Carlos Oscar Kieling ◽

Marina Rossato Adami ◽

Carlos Thadeu Schmidt Cerski ◽

...

Keyword(s):

Liver Disease ◽

Liver Failure ◽

Specific Treatment ◽

Neonatal Morbidity ◽

Best Management ◽

Neonatal Hemochromatosis ◽

Appropriate Treatment ◽

Specialized Center ◽

Neonatal Liver ◽

Neonatal Liver Failure

Neonatal liver failure (NLF) is a major cause of neonatal morbidity and mortality, presenting as acute liver failure and/or congenital cirrhosis. Many affected patients show antenatal signs of fetal injury. There are several causes of NLF and early diagnosis is mandatory to elucidate the etiology and determine a specific treatment or the best management strategy. Gestational alloimmune liver disease associated with neonatal hemochromatosis (GALD-NH) is a rare but potentially treatable cause of NLF. It should be considered in any neonate with fetal signs of disease and postnatal signs of liver failure with no other identifiable causes. GALD-NH is often diagnosed late and patients are therefore referred late to specialized centers, delaying treatment. This case highlights the consequences of late diagnosis and treatment of GALD-NH and emphasizes the importance of a high grade of suspicion of this disease in order to refer the patient to a specialized center soon enough to perform the appropriate treatment.

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Extrahepatic Nonreticuloendothelial Siderosis Is Not Specific to Gestational Alloimmune Liver Disease

Pediatric and Developmental Pathology ◽

10.1177/1093526619826429 ◽

2019 ◽

Vol 22 (4) ◽

pp. 356-364 ◽

Cited By ~ 1

Author(s):

Hao Wu ◽

William Ferguson ◽

Eumenia Castro ◽

Debra Kearney ◽

Milton Finegold ◽

...

Keyword(s):

Liver Disease ◽

Liver Failure ◽

Adrenal Glands ◽

Infant Deaths ◽

Duration Of Illness ◽

History Of ◽

Neonatal Liver ◽

Neonatal Liver Failure ◽

The Mean ◽

Bronchial Glands

Autopsy reports of 78 stillbirths and early infant deaths (up to age 8 weeks) were reviewed to investigate the prevalence of extrahepatic nonreticuloendothelial siderosis (EHNRS) in the context of neonatal liver failure. Of these, 10 liveborns (12.8%), M:F 3:2, with mean gestational age 37.6 weeks (range: 35–39) and mean age at the time of demise 19.1 days (range: 7–42), showed significant liver injury: infection (n = 7, viral > fungal), congenital malformations (n = 2), and ischemia (n = 1). None had maternal history of gestational alloimmune liver disease (GALD) or previous fetal/neonatal death due to liver failure. Seven of 10 cases (70%) showed EHNRS: pancreas (n = 6), kidneys (n = 4), thyroid and adrenal glands (n = 3), and bronchial glands and heart (n = 2). Iron deposition was most frequent in the pancreas (60%), most diffuse in the kidneys, and seen in at least 2 organs, with pancreas and kidney being the most frequent combination. Hepatic C5b-9 expression was variable (1+ to 4+) except 1 case (100% necrosis). The duration of illness and the mean age at the time of demise tended to be higher in those with EHNRS. In summary, hepatic and EHNRS, with or without C5b-9 expression, are not specific for GALD. Other causes of liver failure should be investigated as clinically and pathologically appropriate.

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A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis

Brain and Development ◽

10.1016/j.braindev.2019.01.004 ◽

2019 ◽

Vol 41 (5) ◽

pp. 460-464 ◽

Cited By ~ 3

Author(s):

Tadayuki Kumagai ◽

Hiroshi Terashima ◽

Hajime Uchida ◽

Akinari Fukuda ◽

Mureo Kasahara ◽

...

Keyword(s):

Liver Failure ◽

Disease Type ◽

Neonatal Hemochromatosis ◽

Niemann Pick Disease ◽

Neonatal Liver ◽

Neonatal Liver Failure ◽

Type C ◽

Niemann Pick ◽

Pick Disease

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Neonatal liver failure owing to gestational alloimmune liver disease without iron overload

Hepatology Research ◽

10.1111/hepr.12381 ◽

2014 ◽

Vol 45 (5) ◽

pp. 601-605 ◽

Cited By ~ 5

Author(s):

Tomoyuki Tsunoda ◽

Ayano Inui ◽

Manari Kawamoto ◽

Tsuyoshi Sogo ◽

Haruki Komatsu ◽

...

Keyword(s):

Liver Disease ◽

Iron Overload ◽

Liver Failure ◽

Neonatal Liver ◽

Neonatal Liver Failure

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The modern creation technologies of implanted bioartificial liver

Biomeditsinskaya Khimiya ◽

10.18097/pbmc20105604425 ◽

2010 ◽

Vol 56 (4) ◽

pp. 425-442 ◽

Cited By ~ 2

Author(s):

M.S. Dolgikh

Keyword(s):

Liver Transplantation ◽

Liver Disease ◽

Liver Failure ◽

Hepatic Failure ◽

Bioartificial Liver ◽

Severe Liver ◽

Failure Treatment ◽

Severe Liver Disease ◽

Experimental Approaches ◽

The Creation

The liver transplantation is the most effective method for treating severe liver disease. The hepatocytes transplantation may serve as the perspective means for treating liver failure. This review analyzes the experimental approaches and perspectives on the adult hepatocytes use for the creation of implanting bioartificial liver module for hepatic failure treatment.

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Neonatal Hemochromatosis: Diagnostic Work-Up Based on a Series of 56 Cases of Fetal Death and Neonatal Liver Failure

The Journal of Pediatrics ◽

10.1016/j.jpeds.2014.09.030 ◽

2015 ◽

Vol 166 (1) ◽

pp. 66-73 ◽

Cited By ~ 23

Author(s):

Sophie Heissat ◽

Sophie Collardeau-Frachon ◽

Julien Baruteau ◽

Estelle Dubruc ◽

Raymonde Bouvier ◽

...

Keyword(s):

Liver Failure ◽

Fetal Death ◽

Neonatal Hemochromatosis ◽

Neonatal Liver ◽

Neonatal Liver Failure ◽

Diagnostic Work ◽

Work Up ◽

Diagnostic Work Up

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Hemocromatose Hereditária: investigação do tipo raro em paciente com história familiar de 4 parentes de 1º grau com hepatopatia grave - Relato de Caso / Hereditary Hemochromatosis: rare investigation in a patient with a Family history of 4 firts-degree relatives with severe liver disease – Case Report

Brazilian Journal of Development ◽

10.34117/bjdv7n8-019 ◽

2021 ◽

Vol 7 (8) ◽

pp. 75947-75963

Author(s):

Viviane Lozano Espasandin ◽

Larissa Carvalho Das Chagas ◽

Camilla de Paula Cardoso

Keyword(s):

Case Report ◽

Liver Disease ◽

Family History ◽

Hereditary Hemochromatosis ◽

Severe Liver ◽

Disease Case ◽

History Of ◽

Severe Liver Disease

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The Effect of Prolonged Antenatal IVIG Treatment on the Development of Gestational Alloimmune Liver Disease in the Neonate

Blood ◽

10.1182/blood-2020-135973 ◽

2020 ◽

Vol 136 (Supplement 1) ◽

pp. 13-14

Author(s):

Faraz A Afridi ◽

Janine Gomes ◽

Sukrita A Mysore ◽

Rafat Ahmed ◽

Alla A Kushnir

Keyword(s):

Liver Transplantation ◽

Case Report ◽

Liver Disease ◽

Sinus Thrombosis ◽

Iron Deposition ◽

Ivig Treatment ◽

Venous Sinus Thrombosis ◽

Neonatal Hemochromatosis ◽

Neonatal Liver ◽

The Brain

Introduction: Gestational Alloimmune Liver Disease (GALD) is a rare disease characterized by subacute fetal liver injury and often accompanied by hepatic and extrahepatic iron deposition. Findings include hypoglycemia, coagulopathy, hypoalbuminemia, elevated serum ferritin, elevated alpha-fetoprotein, and ascites. Extrahepatic hemosiderin deposition is often seen in salivary glands. Previously, the mortality rate was close to 80% with all patients needing liver transplantation. With maternal IVIG treatment and changes in neonatal treatment, there is now less than 20% mortality with infrequent need for liver transplantation. Diagnosis of GALD is typically done on a postmortem analysis. Case Description: A term female infant was born via scheduled c-section to a 32 year old G2P1000 mother who had been receiving weekly IVIG during this pregnancy due to the death of her first child at 4 days of life. Autopsy of that female baby demonstrated extensive neuropathological changes, liver steatosis, iron depletion, and ascites, consistent with GALD. Following delivery of our current patient, there was an elevated alpha-fetoprotein (greater than 80,000), decreased fibrinogen, and coagulopathy with peak international normalized ratio of 1.6. The patient received fresh frozen plasma and IVIG on day of life 1 with improvement of these levels. Complete blood count, liver function tests, and ammonia were within normal limits. An MRI of the liver demonstrated normal size, morphology, and normal iron levels based on T2 relaxometry. A buccal biopsy did not demonstrate extrahepatic iron deposition. MRI of the brain showed significant stenosis of the right transverse and sigmoid sinus relating to dural venous sinus thrombosis. There was no evidence of parenchymal infarction and no evidence of iron deposition. At this time, enoxaparin was initiated. The patient was discharged home on day of life nine on enoxaparin therapy. Discussion: There are few reported cases of patients with GALD, especially after maternal IVIG treatment. This case report exemplifies the effect of antenatal IVIG infusions during subsequent pregnancies in women with a history of GALD in prior children. This effect is protective, evidenced by lack of liver injury noted in this patient. This supports the use of immunotherapy during pregnancy to prevent recurrence of alloimmune injury. References: 1. Is exchange transfusion a possible treatment for neonatal hemochromatosis? Giuseppina Timpani-Francesca Foti-Antonino Nicolò-Pier Nicotina-Emanuele Nicastro-Raffaele Iorio - Journal of Hepatology - 2007 2. Medical and surgical treatment of neonatal hemochromatosis: Single center experience-Thomas Heffron-Todd Pillen-David Welch-Massimo Asolati-Gregory Smallwood-Phil Hagedorn-Carlos Fasola-David Solis-John Rodrigues-Jill Depaolo-James Spivey-Enrique Martinez-Stuart Henry-Rene Romero - Pediatric Transplantation - 2007 3. Neonatal Hemochromatosis: A Congenital Alloimmune Hepatitis - Peter Whitington - Seminars in Liver Disease - 2007 4. Neonatal hemochromatosis: The importance of early recognition of liver failure Pankaj Vohra-Cindy Haller-Sukru Emre-Margret Magid-Ian Holzman-Ming Ye-Elizaveta Iofel-Benjamin Shneider - The Journal of Pediatrics - 2000 5. Neonatal Liver Cirrhosis Without Iron Overload Caused by Gestational Alloimmune Liver Disease. Debray-François Guillaume de Halleux- Virginie Guidi-Ornella Detrembleur-Nancy Gaillez-Stéphanie Rausin-Léon Goyens-Philippe Pan-Xiaomin Whitington Peter-Pediatrics-2012 6. Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review Oscar Roos Mariano da Rocha Carolina-Renata Rostirola Guedes- Carlos Oscar Kieling- Marina Rossato Adami- Carlos Thadeu Schmidt Cerski- Sandra Maria Conçalvez Vieria - Hindawi - 2017 Image: (A) MRI liver showing normal appearance without evidence of hemochromatosis (B) MRI brain showing no evidence of iron deposition within the brain parenchyma (C) MRV head showing right transverse and sigmoid venous sinus thrombosis Figure Disclosures No relevant conflicts of interest to declare.

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