scholarly journals Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Weiran Li ◽  
Yu Zhu ◽  
Qin Guo ◽  
Chaomin Wan
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Complete Recovery ◽  
Recurrent Fever ◽  
Compound Heterozygous ◽  
Intravenous Glucose ◽  
Case Presentation ◽  
Genetic Sequencing ◽  
Chinese Girl ◽  
Antipyretic Treatment

Abstract Background Infantile liver failure syndrome-2 (ILFS2) is caused by neuroblastoma amplified sequence (NBAS) mutation. The disease is characterized by recurrent episodes of acute liver failure (ALF) or by liver crisis triggered by recurrent episodes of fever and complete recovery. Case presentation Here, we describe the case of a Chinese girl with typical clinical manifestation of ILFS2 without exhibition of extrahepatic involvement. The patient harbored novel compound heterozygous mutations in the NBAS region (c.3386C > T (p.Ser1129Phe), c.1A > C (p.Met1Leu) and c.875G > A (p.Gly292Glu)), mutations which have not been previously reported. After administration of antipyretics and intravenous glucose and electrolyte administration, the patient recovered fully. Conclusion Through the present study, we recommend that ILFS2 should be taken into consideration during the differential diagnosis of children with recurrent, fever-triggered ALF. While the definitive diagnosis of ILFS2 remains dependent on genetic sequencing and discovery of NBAS, early antipyretic treatment is recommended to prevent liver crisis.

scholarly journals Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure

Medicina ◽  
2019 ◽  
Vol 55 (4) ◽  
pp. 91 ◽  
Author(s):  
Alina Grama ◽  
Ligia Blaga ◽  
Alina Nicolescu ◽  
Călin Deleanu ◽  
Mariela Militaru ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Screening Program ◽  
Novel Mutation ◽  
Group B Streptococcus ◽  
Compound Heterozygous ◽  
Classic Galactosemia ◽  
Short Period ◽  
Galt Gene ◽  
Group B

Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most common agent is Escherichia coli, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with Group B Streptococcus (GBS) meningitis/sepsis. She received treatment with antibiotics, supportive therapy, and erythrocyte transfusion, but after a short period of improvement, she presented acute liver failure with suspicion of an inborn error of metabolism. Rapid nuclear magnetic resonance (NMR) spectroscopy from urine showed highly elevated values of galactose and galactitol. Under intensive treatment for acute liver failure and with a lactose-free diet, her clinical features and laboratory parameters improved considerably. Genetic testing confirmed compound heterozygous status for GALT mutations: c.563 A>G [p.Q188R] and c. 910 C>T, the last mutation being a novel mutation in GALT gene. In countries without an extensive newborn screening program, a high index of suspicion is necessary for early diagnosis and treatment of galactosemia.

Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation

2017 ◽  
Vol 30 (4) ◽  
Author(s):  
Sonya Galcheva ◽  
Violeta Iotova ◽  
Sian Ellard ◽  
Sarah E. Flanagan ◽  
Irina Halvadzhiyan ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Index Patient ◽  
Compound Heterozygous ◽  
Congenital Hyperinsulinism ◽  
Compound Heterozygosity ◽  
Clinical Heterogeneity ◽  
Intravenous Glucose ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Case Presentation ◽  
Compound Heterozygotes

AbstractBackground:Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) and marked clinical heterogeneity caused by compound heterozygosity for the same two novelCase presentation:The index patient is a 3-year-old boy with hypoglycaemic episodes presenting on the first day of life. HH was diagnosed and treatment with intravenous glucose and diazoxide was initiated. Currently he has normal physical and neurological development, with occasional hypoglycaemic episodes detected following continuous fasting on treatment with diazoxide. The first-born 8-year-old sibling experienced severe postnatal hypoglycaemia, generalised seizures and severe brain damage despite diazoxide treatment. The latter was stopped at 6-months of age with no further registered hypoglycaemia. Genetic testing showed that both children were compound heterozygotes for two novelConclusions:These

scholarly journals Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

2019 ◽  
Author(s):  
jun liu ◽  
Xu-Yun Hu ◽  
Zhi-Peng Zhao ◽  
Ruo-Lan Guo ◽  
Jun Guo ◽  
...  
Keyword(s):  
Donor Site ◽  
Severe Neutropenia ◽  
Recurrent Fever ◽  
Neutrophilic Dermatosis ◽  
Molecular Testing ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Reactive Protein ◽  
Pathogenic Variants ◽  
Moderate Anemia

Abstract Background: Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations in the LPIN2 gene located on the short arm of chromosome 18 have been identified as being responsible for Majeed syndrome. Case presentation: We report an 8-month-old boy, who presented with recurrent fever, mild to moderate anemia, and severe neutropenia. Erythrocyte sedimentation rate and C-reactive protein were elevated. Molecular testing identified a paternal splicing donor site variant c.2327+1G>C and a maternal frameshift variant c.1691_1694delGAGA (Arg564Lysfs*3) in LPIN2. Conclusions: Only a few cases with LPIN2 mutation have been reported, mainly in the Middle East with homozygous variants. Our patient exhibited a mild clinical phenotype and severe neutropenia, different from previous reports.

scholarly journals Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Jun Liu ◽  
Xu-Yun Hu ◽  
Zhi-Peng Zhao ◽  
Ruo-Lan Guo ◽  
Jun Guo ◽  
...  
Keyword(s):  
Donor Site ◽  
Severe Neutropenia ◽  
Recurrent Fever ◽  
Neutrophilic Dermatosis ◽  
Molecular Testing ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Reactive Protein ◽  
Pathogenic Variants ◽  
Moderate Anemia

Abstract Background Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations in the LPIN2 gene located on the short arm of chromosome 18 have been identified as being responsible for Majeed syndrome. Case presentation We report an 8-month-old boy, who presented with recurrent fever, mild to moderate anemia, and severe neutropenia. Erythrocyte sedimentation rate and C-reactive protein were elevated. Molecular testing identified a paternal splicing donor site variant c.2327 + 1G > C and a maternal frameshift variant c.1691_1694delGAGA (Arg564Lysfs*3) in LPIN2. Conclusions Only a few cases with LPIN2 mutation have been reported, mainly in the Middle East with homozygous variants. Our patient exhibited a mild clinical phenotype and severe neutropenia, different from previous reports.

scholarly journals Crossroad of infection and autoimmunity in acute liver failure: a case report

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Akash Roy ◽  
Sunil Taneja ◽  
Arka De ◽  
Ashim Das ◽  
Ajay K. Duseja ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Autoimmune Hepatitis ◽  
De Novo ◽  
Dramatic Improvement ◽  
Case Presentation ◽  
Wide Range ◽  
Syndromic Diagnosis ◽  
Initial Improvement ◽  
Tropical Infections

Abstract Background Acute liver failure (ALF) is a syndromic diagnosis, consisting of jaundice, coagulopathy, and any degree of encephalopathy in a patient without pre-existing liver disease within 26 weeks of the onset of symptoms. Autoimmune hepatitis has a wide range of presentations and can rarely present as ALF, which frequently tends to be autoantibody negative. Tropical infections like dengue, malaria, and leptospirosis, which present as mimickers of ALF, always remain a differential diagnosis of ALF and mandate an etiology specific management. In rare cases, such infections themselves act as a trigger for autoimmunity. We report a case of diagnostic crossroads of infection and autoimmunity, presenting as acute liver failure and describe the challenges in management. Case presentation A 25-year-old female presented with a syndromic diagnosis of acute liver failure with possibility of tropical illness-related ALF mimic on account of positive Leptospira serology. After initial improvement, there was a rebound worsening of liver functions which prompted a liver biopsy. Biopsy narrowed the differential to Leptospira-associated hepatitis and severe auto-immune hepatitis. Trial of low dose steroid was given which led to dramatic improvement. Conclusion Tropical infections can present as ALF mimics and can themselves act as triggers for autoimmunity. Distinguishing such cases from de-novo acute severe autoimmune hepatitis is difficult and requires therapeutic brinksmanship. An early trial of steroid is mandated but comes with its own challenges.

scholarly journals Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations

2021 ◽  
Vol 8 ◽  
Author(s):  
Bingxin Jiang ◽  
Fangfei Xiao ◽  
Xiaolu Li ◽  
Yongmei Xiao ◽  
Yizhong Wang ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Gene Mutations ◽  
Kidney Injury ◽  
Compound Heterozygote ◽  
Healthy Children ◽  
Whole Exome ◽  
Threatening Condition ◽  
Chinese Girl ◽  
Life Threatening

Acute liver failure (ALF) in childhood is a rapidly progressive, potentially life-threatening condition that occurs in previously healthy children of all ages. However, the etiology of ~50% of cases with pediatric ALF remains unknown. We herein report a 4-year-old Chinese girl with recurrent ALF (RALF) due to a mutation in the neuroblastoma amplified sequence (NBAS) gene. The patient had suffered from multiple episodes of fever-related ALF since early childhood. She had also suffered from acute kidney injury, hypertension, mild pulmonary hypertension, pleural effusion, and hypothyroidism. A novel compound heterozygote mutation, c.3596G> A (p.C1199Y)/ex.9del (p.216-248del), in the NBAS gene was identified by whole-exome sequencing (WES). The missense mutation c.3596G> A (p. C1199Y) was inherited from her father, and ex.9del (p.216-248del) was inherited from her mother. The patient was managed with intensive treatments, such as renal replacement therapy (CRRT), intravenous antibiotics, and glucose infusion, and was discharged after full recovery. We identified a novel compound heterozygote mutation in the NBAS gene that caused fever-related RALF in a Chinese child, which further expands the mutational spectrum of NBAS.

scholarly journals S2408 Sunitinib-Induced Acute Liver Failure: A Case Presentation

2020 ◽  
Vol 115 (1) ◽  
pp. S1278-S1278 ◽  
Author(s):  
Anum Aqsa ◽  
Sami Droubi ◽  
Shivantha Amarnath ◽  
Hassan Al Moussawi ◽  
Jeffrey R. Abergel
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Case Presentation

scholarly journals Acute liver failure and seizure: a case report of an unusual presentation of acute painless aortic dissection

2020 ◽  
Author(s):  
Tian-Yu Qiu ◽  
Jason Jia-Hao See ◽  
Haiyuan Shi ◽  
Yu-Jun Wong
Keyword(s):  
Aortic Dissection ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Early Recognition ◽  
Kidney Injury ◽  
Complete Recovery ◽  
Abdominal Ultrasound ◽  
Atypical Presentation ◽  
Life Saving ◽  
Malperfusion Syndrome

Abstract Background Painless aortic dissection presenting with seizure and acute liver failure is uncommon. We described a case of early recognition leading to successful treatment of painless aortic dissection with atypical presentation. Case summary A young lady presented with generalized tonic-clonic seizures coupled with hepatitic pattern of deranged liver function test. Examination revealed blood pressure of 99/75 mmHg and hepatic flap. Electrocardiography showed sinus tachycardia. Urgent bedside echocardiography showed preserved cardiac function without significant valvular pathology, but noted a moderate pericardial effusion. Abdominal Ultrasound excluded liver cirrhosis or biliary obstructions. Viral hepatitis serologies and anti-liver panel were negative. She was progressively hypotensive with concurrent acute liver failure and oliguric acute kidney injury. Despite no chest pain, her rising serum troponin and widened mediastinum prompted an urgent computed-tomography aortogram, which showed a 4.3 cm dilatation of ascending thoracic aorta with acute haemopericardium and cardiac tamponade. She was diagnosed with malperfusion syndrome from Stanford type A aortic dissection. She underwent emergent ascending aorta and aortic arch repair and dialysis. She experienced complete recovery in her kidney, liver, and neurological function post-operatively. Discussion Painless aortic dissection masquerade as acute liver failure is uncommon. We describe a successful early recognition of malperfusion syndrome from painless aortic dissection, thus providing window for timely, life-saving intervention. Clinical challenges in this case include: (i) atypical presentation of aortic dissection, (ii) worsening acute liver failure which could lead to unnecessary liver transplantation, and (iii) risk of contrast-induced nephropathy in the setting of acute renal failure.

Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure

2021 ◽  
Vol 14 (2) ◽  
pp. e234993
Author(s):  
Sowmya Krishnan ◽  
Ankur Rughani ◽  
Anne Tsai ◽  
Sirish Palle
Keyword(s):  
Osteogenesis Imperfecta ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Autosomal Recessive ◽  
Retrograde Transport ◽  
Compound Heterozygous ◽  
X Rays ◽  
Multiple Fractures ◽  
Therapeutic Implications ◽  
Compound Heterozygous Variants

Osteogenesis imperfecta (OI) consists of a group of genetically and phenotypically heterogeneous diseases characterised by bone fragility. Recent improvement in gene sequencing methods has helped us identify rare forms of OI that are inherited in an autosomal recessive manner. Paediatric endocrinology was consulted on a newborn girl with multiple fractures and wavy thin ribs noted on X-rays. In addition to the bone phenotype, she also has short stature and recurrent acute liver failure (ALF) episodes triggered by intercurrent illness. Whole exome sequencing revealed two novel compound heterozygous variants in neuroblastoma amplified sequence (NBAS) gene. NBAS gene codes for a protein that is involved in nonsense-mediated decay pathway and retrograde transport of proteins from Golgi to endoplasmic reticulum. Recognition of pathogenic variants in this gene as a rare cause of autosomal recessive OI and recurrent ALF has important therapeutic implications.

scholarly journals Undiagnosed HIV-related lymphoma associated to EBV co-infection: an autopsy case report

2021 ◽  
Author(s):  
Mariem Grayaa ◽  
Said Saadi ◽  
Ahlem Bellalah ◽  
Sami Ben Jomaa ◽  
Seifeddine Ben Hammouda ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Case Presentation ◽  
Large B Cell Lymphoma ◽  
Hiv Antibodies ◽  
Undiagnosed Hiv ◽  
Epstein Barr ◽  
Macroscopic Examination

Abstract Background: The diffuse large-B-cell lymphoma (DLBCL) is known as one of the most neoplasm that occurs in AIDS patients. In rare cases, this tumor is manifested with acute liver failure. Case presentation: We report a case of patient who was presented with jaundice and hepatomegaly due to an acute liver failure. A blood exposure accident helped the operator to discover the seropositive statue of the deceased. The results confirmed the presence of HIV antibodies in patient’s serum. Macroscopic examination of the spleen showed a well-defined subcapsular nodule. It had a micronodular appearance. Immunohistochemistry was also performed. Conclusion: The diagnosis of DLBCL related to HIV associated to an Epstein-Barr infection was established in postmortem.

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