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Infant hepatomegaly

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https://www.readbyqxmd.com/read/29137101/analysis-of-islet-beta-cell-functions-and-their-correlations-with-liver-dysfunction-in-patients-with-neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency-niccd
#1
Chun-Ting Lu, Jing Yang, Si-Min Huang, Lie Feng, Ze-Jian Li
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) primarily manifests in neonates or infants with hepatomegaly, liver dysfunction, and hypoglycemia. This study investigated the functions of islet beta cells and their correlations with liver dysfunction in NICCD patients.We retrospectively analyzed clinical data on liver function and islet beta cell functions for 36 patients diagnosed with NICCD and 50 subjects as the control group. The NICCD group had significantly higher total bilirubin (TBIL), direct bilirubin (DBIL), alanine aminotransferase (ALT), aspartate amino transferase (AST), gamma-glutamyl transpeptidase (GGT), alkaline phosphatase (ALP) and alpha-fetoprotein (AFP) levels and albumin/globulin ratio (A/G) (P < ...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29071542/infant-with-hepatomegaly-and-hypoglycemia-a-setting-for-fatty-acid-oxidation-defects
#2
Aathira Ravindranath, Gautham Pai, Anshu Srivastava, Ujjal Poddar, Surender Kumar Yachha
Fatty acid oxidation defects (FAOD) are one of the commonest metabolic liver diseases (MLDs) that can have varied presentations in different age groups. An infant presented with short history of jaundice and irritability, examination showed soft hepatomegaly. Investigations revealed non-ketotic hypoglycemia suggesting FAOD which was later confirmed as carnitine uptake defect with gas chromatography and mass spectrometry and mutation analysis. Patient improved with acute management of metabolic crisis, carnitine supplementation and corn starch therapy with reversal of encephalopathy, reduction in hepatomegaly, maintenance of euglycemia and improvement in liver function tests and creatine phosphokinase on follow up...
October 26, 2017: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/29030856/mitochondrial-3-hydroxy-3-methylglutaryl-coa-synthase-deficiency-unique-presenting-laboratory-values-and-a-review-of-biochemical-and-clinical-features
#3
Erin Conboy, Filippo Vairo, Matthew Schultz, Katherine Agre, Ross Ridsdale, David Deyle, Devin Oglesbee, Dimitar Gavrilov, Eric W Klee, Brendan Lanpher
We report an 8-month-old infant with decreased consciousness after a febrile episode and reduced oral intake. He was profoundly acidotic but his lactate was normal. Serum triglycerides were markedly elevated and HDL cholesterol was very low. The urine organic acid analysis during the acute episode revealed a complex pattern of relative hypoketotic dicarboxylic aciduria, suggestive of a potential fatty acid oxidation disorder. MRI showed extensive brain abnormalities concerning for a primary energy deficiency...
October 14, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29018645/dietary-therapy-for-von-gierke-s-disease-a-case-report
#4
Mohammad Raza, Fehmina Arif, Pirthvi Raj Giyanwani, Saad Azizullah, Sonum Kumari
Von Gierke's disease, also known as glycogen storage disease (GSD) type 1A, is an autosomal recessive disease in which there is an inability to cleave glycogen to glucose because of a glucose 6 phosphate deficiency resulting in hypoglycemia and lactic acidosis. The patient may present with hepatomegaly and signs and symptoms of hypoglycemia. We diagnosed a case of Von Gierke's disease in a seven-month-old female infant who was admitted for abdominal distension, vomiting, and lethargy for a duration of four months with characteristic rounded doll's face, fatty cheeks, protuberant abdomen, and massive hepatomegaly...
August 8, 2017: Curēus
https://www.readbyqxmd.com/read/28902093/bile-acid-synthesis-disorders-in-arabs-a-10-year-screening-study
#5
Abdulrahman Al-Hussaini, Kenneth D R Setchell, Bader AlSaleem, James E Heubi, Khurram Lone, Anne Davit-Spraul, Emmanuel Jacquemin
OBJECTIVES: Early diagnosis of bile acid synthesis disorders (BASD) is important because, untreated, these conditions can be fatal. Our objectives were to screen children with cholestasis or unexplained liver disease for BASD and in those with confirmed BASD to evaluate the effectiveness of cholic acid therapy. METHODS: A routine serum total bile acid measurement was performed on children with cholestasis, liver cirrhosis, and liver failure. Patients were screened for BASD by fast atom bombardment ionization-mass spectrometry (FAB-MS) analysis of urine, and molecular analysis confirmed diagnosis...
September 9, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28804516/the-role-of-sebelipase-alfa-in-the-treatment-of-lysosomal-acid-lipase-deficiency
#6
REVIEW
Angelika L Erwin
Lysosomal acid lipase deficiency (LALD) is a lysosomal storage disorder (LSD) characterized either by infantile onset with fulminant clinical course and very poor prognosis or childhood/adult-onset disease with an attenuated phenotype. The disorder is often misdiagnosed or remains undiagnosed in children and adults due to a rather unspecific clinical presentation with dyslipidemia and steatohepatitis. Until recently, no good treatment options were available for LALD. Despite supportive and symptomatic therapies, death occurred before 1 year of age in patients with infantile-onset disease and patients with childhood/adult-onset LALD suffered from significant complications, such as liver cirrhosis, requiring liver transplantation and early-onset cardiovascular disease...
July 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28697823/-clinical-feature-and-genetic-analysis-of-a-family-affected-by-congenital-bile-acid-synthesis-defect-type-2-identification-of-2-novel-mutations-in-akr1d1-gene
#7
Ying Cheng, Li Guo, Mei Deng, Yuan-Zong Song
Congenital bile acid synthesis defect type 2 (CBAS2) is an autosomal recessive disorder caused by biallelic mutations of AKR1D1 gene, which encodes the Δ4-3-oxo-steroid 5β-reductase. Cholestatic jaundice is the main clinical manifestation, accompanied by malabsorption of fat and fat-soluble vitamins. This paper reported the clinical and genetic features of a CBAS2 patient definitely diagnosed by AKR1D1 genetic analysis. An 8-month-old male infant was referred to the hospital with the complaint of jaundiced skin and sclera over 7 months...
July 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28695157/lipoprotein-lipase-deficiency-in-an-infant-with-chylomicronemia-hepatomegaly-and-lipemia-retinalis
#8
Dinesha Maduri Vidanapathirana, Thushara Rodrigo, Samantha Waidyanatha, Eresha Jasinge, Amanda J Hooper, John R Burnett
No abstract text is available yet for this article.
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28687948/role-of-hepatobiliary-scintigraphy-and-preoperative-liver-biopsy-for-exclusion-of-biliary-atresia-in-neonatal-cholestasis-syndrome
#9
Ankur Mandelia, Richa Lal, Nijagal Mutt
All diagnostic algorithms for Neonatal Cholestasis Syndrome (NCS) focus on differentiating numerous medical causes from Biliary Atresia (BA). No preoperative diagnostic algorithm has 100% diagnostic accuracy for BA and yet, timely diagnosis is crucial to optimize surgical outcome. Markers for high index of clinical suspicion for BA are: a "usually" well thriving infant with conjugated hyperbilirubinemia, raised gamma glutamyl transpeptidase, persistently "acholic" stools, firm hepatomegaly with dysmorphic, hypoplastic gall bladder...
July 8, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28678091/prenatally-diagnosed-infant-aml
#10
Mary-Pat Schlosser, Shannon Bucking, Brigitte Lemyre, David Grynspan, Ruth Padmore, Donna Johnston
We report the first case of a fetus with acute myeloid leukemia, without Down syndrome, diagnosed in utero. A cordocentesis sample prepared to investigate hepatomegaly led to further evaluations revealing acute myeloid leukemia, monocytic type, in the fetus. Cytogenetic analysis showed mixed lineage leukemia duplication, no gene disruption or trisomy. Planned treatment included intrauterine exchange transfusion to extend gestation, low-dose chemotherapy at birth, and full chemotherapy once stable. Before any intervention, the child was delivered emergently for maternal condition and died 2 hours later...
July 3, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28388738/riboflavin-responsive-multiple-acyl-coa-dehydrogenase-deficiency-associated-with-hepatoencephalomyopathy-and-white-matter-signal-abnormalities-on-brain-mri
#11
Päivi Vieira, Päivi Myllynen, Marja Perhomaa, Hannu Tuominen, Riikka Keski-Filppula, Seppo Rytky, Leila Risteli, Johanna Uusimaa
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting both fatty acid and amino acid oxidation. It can manifest at any age, but riboflavin-responsiveness has mainly been described in less severely affected patients. We describe an infant with severe MADD presenting with profound hypotonia and hepatomegaly. Treatment with riboflavin improved his muscle strength, liver size, and biochemical markers. A homozygous mutation of electron transfer flavoprotein dehydrogenase (ETFDH) was found...
April 7, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#12
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
June 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/27799810/novel-treatment-options-for-lysosomal-acid-lipase-deficiency-critical-appraisal-of-sebelipase-alfa
#13
REVIEW
Kim Su, Emma Donaldson, Reena Sharma
Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of cholesterol metabolism with an autosomal recessive mode of inheritance. The absence or deficiency of the LAL enzyme gives rise to pathological accumulation of cholesterol esters in various tissues. A severe LAL-D phenotype manifesting in infancy is associated with adrenal calcification and liver and gastrointestinal involvement with characteristic early mortality. LAL-D presenting in childhood and adulthood is associated with hepatomegaly, liver fibrosis, cirrhosis, and premature atherosclerosis...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27797444/hereditary-fructose-intolerance-mimicking-a-biochemical-phenotype-of-mucolipidosis-a-review-of-the-literature-of-secondary-causes-of-lysosomal-enzyme-activity-elevation-in-serum
#14
REVIEW
Carlos R Ferreira, Joseph M Devaney, Sean E Hofherr, Laura M Pollard, Kristina Cusmano-Ozog
We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis II or III, in whom a diagnosis of hereditary fructose intolerance (HFI) was ultimately obtained. She presented before introduction of solid foods, given her consumption of a fructose-containing infant formula. We present the most extensive panel of lysosomal enzyme activities reported to date in a patient with HFI, and propose that multiple enzyme elevations in plasma, especially when in conjunction with a normal plasma α-mannosidase activity, should elicit a differential diagnosis of HFI...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27668206/fetal-neuroblastoma-ultrasonography-and-magnetic-resonance-imaging-findings-in-the-prenatal-and-postnatal-iv-s-stage
#15
Heron Werner, Pedro Daltro, Taisa Davaus, Edward Araujo Júnior
We report a case of a fetus with an ultrasonography diagnosis of a neuroblastoma during a routine third trimester fetal scan, which presented as a hyperechogenic nodule located above the right kidney. No other abnormalities were found in the ultrasonography scan; however, the follow-up ultrasonography during the 36th week of gestation revealed that the lesion had doubled in size. At the same time, magnetic resonance imaging demonstrated a round mass in the topography of the right adrenal gland with a low signal on T1-weighted images and slightly high signal on T2-weighted images, causing a slight inferior displacement of the kidney...
September 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27610342/history-of-the-infantile-hepatic-hemangioma-from-imaging-to-generating-a-differential-diagnosis
#16
REVIEW
Maria Gnarra, Gerald Behr, Alison Kitajewski, June K Wu, Sudha A Anupindi, Carrie J Shawber, Nick Zavras, Dimitrios Schizas, Chris Salakos, Konstantinos P Economopoulos
We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis...
August 8, 2016: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/27556807/incidence-and-risk-factors-for-developing-dengue-associated-hemophagocytic-lymphohistiocytosis-in-puerto-rico-2008-2013
#17
Esther M Ellis, Tyler M Sharp, Janice Pérez-Padilla, Liza González, B Katherine Poole-Smith, Emmaculate Lebo, Charlotte Baker, Mark J Delorey, Brenda Torres-Velasquez, Eduardo Ochoa, Brenda Rivera-Garcia, Hector Díaz-Pinto, Luis Clavell, Anabel Puig-Ramos, Gritta E Janka, Kay M Tomashek
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare, potentially fatal disorder characterized by fever, pancytopenia, hepatosplenomegaly, and increased serum ferritin. HLH is being increasingly reported as a complication of dengue, a common tropical acute febrile illness. METHODOLOGY/PRINCIPAL FINDINGS: After a cluster of pediatric dengue-associated HLH patients was identified during the 2012-2013 dengue epidemic in Puerto Rico, active surveillance and a case-control investigation was conducted at four referral hospitals to determine the incidence of HLH in children and identify risk factors for HLH following dengue...
August 2016: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/27504083/very-early-presentation-of-extrahepatic-portal-vein-obstruction-causing-portal-hypertension-in-an-infant-uncertainties-in-the-management-and-therapeutic-limitations
#18
Parisá Khodayar-Pardo, Andrés Peña Aldea, Ana Ramírez González, Adela Meseguer Carrascosa, Cristina Calabuig Bayo
Extrahepatic portal vein obstruction, although rare in children, is a significant cause of portal hypertension (PHT) leading to life-threatening gastrointestinal bleeding in the pediatric age group. PHT may also lead to other complications such as hyperesplenism, cholangyopathy, ascites, and even hepatopulmonary syndrome and portopulmonary hypertension that may require organ transplantation. Herein we report the case of an asymptomatic 11-month-old infant wherein a hepatomegaly and cavernous transformation of the portal vein was detected by liver ultrasound...
May 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27376438/brainstem-micro-abscesses-caused-by-burkholderia-pseudomallei-in-a-10-month-old-infant-a-case-report
#19
M Prasanna Kumar, Sriram Krishnamurthy, V S Venkateswaran, Subramanian Mahadevan, M Lalitha, Sujatha Sistla, K Nagarajan
Melioidosis is an uncommon tropical infectious disease caused by Burkholderia pseudomallei. Neurological complications of melioidosis are extremely uncommon in infants. A 10-month-old girl is described who presented with disseminated melioidosis with subcutaneous nodules, arthritis, hepatomegaly and a lung cavity, and developed a left medial rectus palsy. Cranial MRI demonstrated mid-brain, pontine and basal ganglia micro-abscesses. Therapy with meropenem and cotrimoxazole led to resolution of the medial nerve palsy...
August 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/27256967/mulibrey-nanism-two-novel-mutations-in-a-child-identified-by-array-cgh-and-dna-sequencing
#20
Enza Mozzillo, Carla Cozzolino, Rita Genesio, Daniela Melis, Giulia Frisso, Ada Orrico, Barbara Lombardo, Valentina Fattorusso, Valentina Discepolo, Roberto Della Casa, Francesca Simonelli, Lucio Nitsch, Francesco Salvatore, Adriana Franzese
In childhood, several rare genetic diseases have overlapping symptoms and signs, including those regarding growth alterations, thus the differential diagnosis is sometimes difficult. The proband, aged 3 years, was suspected to have Silver-Russel syndrome because of intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly, body asymmetry, and bilateral fifth finger clinodactyly. Other features were left atrial and ventricular enlargement and patent foramen ovale...
August 2016: American Journal of Medical Genetics. Part A
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