Liver Failure in Early Infancy

Bitar, Rana; Thwaites, Rosemary; Davison, Suzanne; Rajwal, Sanjay; McClean, Patricia

doi:10.1097/mpg.0000000000001202

Cited by 37 publications

(39 citation statements)

References 21 publications

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“…The incidence of infant‐related (within the first 120 days of life) acute liver failure is difficult to discern as there are only few contemporary cohort studies available and by and large they are from single centers . As biliary atresia is the most common reason for pediatric transplant, progressive and relatively rapid liver failure from biliary atresia can occur and usually presents in the form of coagulopathy.…”

Section: Discussionmentioning

confidence: 99%

“…Despite advances in our understanding of congenital diseases that lead to liver failure in the pediatric population, there are still a significant number of infants that present with late complications related to ESLD. The etiology of liver failure during the neonatal period and early infancy in this patient population includes metabolic disorders (tyrosinemia etc), biliary atresia, GALD, infection, and hypoxia‐ischemia‐related hepatopathy . The most common presentation is jaundice and hypoglycemia followed by renal failure, bleeding, and encephalopathy .…”

Section: Introductionmentioning

confidence: 88%

“…The etiology of liver failure during the neonatal period and early infancy in this patient population includes metabolic disorders (tyrosinemia etc), biliary atresia, GALD, infection, and hypoxia‐ischemia‐related hepatopathy . The most common presentation is jaundice and hypoglycemia followed by renal failure, bleeding, and encephalopathy . As might be expected, when these patients present, they are extremely ill and may be beyond the window to tolerate a liver transplant.…”

Section: Introductionmentioning

confidence: 88%

“…encephalopathy. 2,3 As might be expected, when these patients present, they are extremely ill and may be beyond the window to tolerate a liver transplant.…”

mentioning

confidence: 89%

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confidence: 99%

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Pediatric liver transplant following near catastrophic head bleed: Lessons learned

Cuenca

Hardy

Shah

et al. 2020

Pediatric Transplantation

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Evaluation for liver transplant candidacy is a multidisciplinary effort that involves all aspects of clinical care including social work, nutrition, and a multitude of medical specialties. The prognosis of a pretransplant clinical condition is integrated into the decision to list a patient. Herein, we report a successful liver transplant and recovery of a 3‐month‐old male following a large right hemispheric subdural hematoma related to acute coagulopathy secondary to undiagnosed end‐stage liver disease. On presentation with jaundice, lethargy, and unequal pupils, a CT scan was obtained which demonstrated a large right subdural hematoma with herniation. Once his coagulopathy was corrected, he went for decompressive craniectomy. He survived with medically controlled seizures and improving L‐sided neglect and extremity weakness. Six weeks later, given his continued neurologic recovery and worsening liver function, the decision was made to list him for liver transplantation. One month later, he underwent orthotopic liver transplant. His post‐operative hospital course was complicated by DVTs and heparin‐induced thrombocytopenia, but no neurologic decline, and he was eventually discharged from the hospital on post‐op day 26. Three years later, he has a well‐functioning allograft and no clinically evident neurologic deficits. The prognosis following pediatric neurologic trauma remains somewhat unclear as recovery and neurologic examinations can be influenced by numerous extrinsic factors. This is one of the first reports of near full neurologic recovery of a pediatric liver transplant recipient following a large subdural hematoma with herniation.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 88%

Section: Introductionmentioning

confidence: 88%

“…encephalopathy. 2,3 As might be expected, when these patients present, they are extremely ill and may be beyond the window to tolerate a liver transplant.…”

mentioning

confidence: 89%

mentioning

confidence: 99%

See 3 more Smart Citations

Pediatric liver transplant following near catastrophic head bleed: Lessons learned

Cuenca

Hardy

Shah

et al. 2020

Pediatric Transplantation

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Genetic aetiologies of acute liver failure

Hegarty,

Thompson

2024

J of Inher Metab Disea

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Acute liver failure (ALF) is a rare, rapidly evolving, clinical syndrome with devastating consequences where definitive treatment is by emergency liver transplantation. Establishing a diagnosis can be challenging and, historically, the cause of ALF was unidentified in up to half of children. However, recent technological and clinical advances in genomic medicine have led to an increasing proportion being diagnosed with monogenic aetiologies of ALF. The conditions encountered include a diverse group of inherited metabolic disorders each with prognostic and treatment implications. Often these disorders are clinically indistinguishable and may even mimic disorders of immune regulation or red cell disorders. Rapid genomic sequencing for children with ALF is, therefore, a key component in the diagnostic work up today. This review focuses on the monogenic aetiologies of ALF.

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Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency

et al. 2018

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Background: Deleterious mutations in cytosolic leucine-tRNA synthetase (LARS) cause infantile liver failure syndrome, type 1 (ILFS1), a recently recognized, rare autosomal recessive disorder (OMIM151350). Only six families with ILFS1 have been reported in the literature. Patients with ILFS1 are typically diagnosed between 5 and 24 months of age with failure to thrive, developmental delays, encephalopathy, microcytic anemia, and chronic liver dysfunction with recurrent exacerbations following childhood illnesses. Neonatal manifestations of this disorder have not been well documented. Case Report: We report a premature female newborn with intrauterine growth restriction, failure to thrive, congenital anemia, anasarca, and fulminant liver failure leading to lethal multiple organ failure. Liver failure in this infant was characterized by a disproportionate impairment of liver synthetic function, including severe coagulopathy and hypoalbuminemia without significant defects in liver detoxification or evidence of hepatocellular injury during early phase of the disease. Whole-exome sequencing of child-parent trio identified two inherited missense mutations in LARS in this patient. One, c.1292T>A; p.Val431Asp, has been reported in patients with ILFS1, while the other, c.725C>T; p.Pro242Leu, is novel. Both mutations involve amino acid residues in the highly conserved editing domain of LARS, are predicted to be functionally deleterious, and presumably contribute to the clinical manifestations in this patient. Conclusion: This is the first case documenting neonatal manifestation of ILFS1, highlighting early, severe, and disproportionate defects in liver synthetic function. Timely diagnosis of ILFS1 is crucial to guide critical clinical management and improve outcomes of this rare and potentially life-threatening disorder.

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Liver Failure in Early Infancy

Cited by 37 publications

References 21 publications

Pediatric liver transplant following near catastrophic head bleed: Lessons learned

Pediatric liver transplant following near catastrophic head bleed: Lessons learned

Genetic aetiologies of acute liver failure

Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency

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