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Infant hepatomegaly

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
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
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
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
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...
July 4, 2016: Paediatrics and International Child Health
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
Siu Ying Angel Nip, Kam Lun Hon, Wing Kwan Alex Leung, Alexander K C Leung, Paul C L Choi
Hemangioma is the most common vascular tumor of infancy; presentation is often as cutaneous infantile hemangioma (IH). Cutaneous hemangioma is a clinical diagnosis. Most IHs follow a benign course, with complete involution without treatment in the majority of cases. Visceral hemangioma often involves the liver and manifests as a life-threatening disorder. Hepatic hemangiomas may be associated with high output cardiac failure, coagulopathy, and hepatomegaly which generally develop between 1 and 16 weeks of age...
2016: Case Reports in Pediatrics
Lea H Mallett, Vinayak P Govande, Ashita Shetty, Madhava R Beeram
This double-blinded, randomized, crossover study evaluated the safety and effectiveness of 20 mL/kg aliquots of packed red blood cell (PRBC) transfusions versus 15 mL/kg aliquot transfusions in very low birth weight (VLBW) infants with anemia. The study enrolled 22 hemodynamically stable VLBW infants requiring PRBC transfusions, with a mean gestational age of 25.7 ± 2.2 weeks and birth weight of 804 ± 261 g. Each infant was randomized to receive one of two treatment sequences: 15 mL/kg followed by 20 mL/kg or 20 mL/kg followed by 15 mL/kg...
April 2016: Proceedings of the Baylor University Medical Center
Eunice Sandoval-Ramírez, Ignacio Camacho-Meza, Nery Eduardo-Solís, Oswaldo Plascencia-Tabares, Efraín Navarro-Olivos, Francisco Ignacio Ortiz-Aldana
Hemophagocytic syndrome is characterized by increased proliferation and activation of antigen presenting cells (histiocytes) in bone marrow and other organs of the reticuloendothelial system as well as CD8+ T cells that threatens life of patients. The predominant clinical manifestations such as fever, cytopenia, hepatitis, coagulopathy, neurological symptoms and multiple organ failure are related to systemic inflammation. We report the case of an infant who started with jaundice, abdominal pain, vomiting and malaise, at admission, hepatomegaly, splenomegaly and biochemically with features suggestive of hepatocellular inflammation and progressive cholestasis with poor outcome, it was added persistent fever, seizures, anemia, thrombocytopenia, leukopenia, elevated ferritin and hypertriglyceridemia integrating hemophagocytic syndrome with fatal outcome despite immunosuppressive therapy...
January 2016: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
Yun Liu, Yang Yang, Beibei Wang, Lizhi Wu, Honglu Liang, Qing Kan, Zhaolan Cao, Youyan Zhao, Xiaoyu Zhou
Pompe disease, also known as glycogen storage disease type II, is caused by acid maltase deficiency, and can lead to lysosomal glycogen storage. The primal manifestations may be observed in children and adults, and also in infants. In general, the clinical spectrum in infants is more progressive and lethal than that in older patients. This case report describes the case of a newborn who was found to have cardiac hypertrophy, hepatomegaly and elevated serum enzyme levels, which was characterized by an aspartate aminotransferase level of 95 U/l, lactate dehydrogenase level of 778 U/l and creatine kinase level of 1,299 U/l...
January 2016: Experimental and Therapeutic Medicine
W E Sadoh, W O Osarogiagbon
OBJECTIVE: To evaluate heart failure in patients with pneumonia. SETTING: The paediatric wards of a tertiary hospital in Nigeria. SUBJECTS: One hundred and four patients were studied. RESULTS: The mean age was 10.3 ± 11.0 months and 53(51.0%) were males. Of the 104, 41(39.4%) also had Congestive Cardiac Failure (CCF). All 41(100%) patients with CCF compared to 38 of 63 (60.3%) with pneumonia only had cardiomegaly (p = 0...
October 2012: East African Medical Journal
Giacomo Gotti, Antonio Marseglia, Costantino De Giacomo, Maria Iascone, Aurelio Sonzogni, Lorenzo D'Antiga
The most common conditions causing cholestatic jaundice in infants are biliary atresia, neonatal hepatitis, and Alagille syndrome. In these disorders, the clinical presentation includes jaundice, pale stools, dark urine and hepatomegaly. Splenomegaly is not an early feature since it is due to portal hypertension, a later event. The finding of cholestatic jaundice and a large spleen usually raises the suspicion of Niemann-Pick type C disease (NP-C), a lysosomal storage disorder. We present and discuss here a case of an infant with liver disease and splenomegaly that were not ascribed to NP-C, but to Gaucher disease type 2...
2016: Fetal and Pediatric Pathology
Elizabeth M Keating, Phot Nget, Sreng Kea, Suy Kuong, Leng Daly, Seng Phearom, Felicity Enders, Lynn A Cheryk, Mark Topazian, Philip R Fischer, Varun Kumar
BACKGROUND: Beriberi is endemic in South-east Asia. Diagnosis is based on clinical findings, but correlation of clinical features with blood thiamine concentrations is uncertain. OBJECTIVES: To investigate in tachypnoeic Cambodian infants the correlation between whole blood thiamine diphosphate (TDP) concentrations, clinical findings and blood TDP levels after therapy. METHODS: Infants hospitalised with tachypnoea were enrolled from October 2011 to January 2012...
2015: Paediatrics and International Child Health
Jia-peng Sun, Xin-tian Lu, Wei-hong Zhao, Ying Hua
We described 1 case of autoimmune lymphoproliferative syndrome (ALPS), first diagnosed in our hospital, and reviewed the recent literature. The 11-month old male patient presented with a history of splenomegaly and hepatomegaly since 1 month after birth. He suffered recurrent infectious diseases including cytomegalovirus infection, parvovirus B19 infection and chronic diarrhea disease. Besides, his symptoms included hemolytic anemia and thrombocytopenia. The laboratory abnormality indicated an expanded population of alpha/beta double-negative T cells (DNTs) (27...
December 18, 2015: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
Marzena Dębska, Piotr Kretowicz, Anna Tarasiuk, Joanna Dangel, Romuald Dębski
A 34-year-old multiparous woman presented with anti-Rh-D antibodies (1: 512) and fetal hydrops at the 21(st) week of gestation. Ultrasound revealed massive fetal skin edema, ascites, hepatomegaly, placentomegaly, and anhydramnios. No fetal movements were observed. Fetal heart was enlarged, with reportedly decreased contractibility. The Doppler parameters were abnormal: the peak systolic velocity in median cerebral artery (MCA PSV) was increased (84 cm/s, 3 MoM), and absent end diastolic flow (AEDF) was reported in the umbilical artery...
June 2014: Journal of Ultrasonography
Heidi Helin, Jon van der Walt, Muriel Holder, Simi George
We present a case of pure erythroleukemia, diagnosed at autopsy, in a dysmorphic premature infant who died of multiorgan failure within 24 hours of birth. Dysmorphic features included facial and limb abnormalities with long philtrum, microagnathia, downturned mouth, short neck as well as abnormal and missing nails, missing distal phalanx from the second toe, and overlapping toes. Internal findings included gross hepatomegaly and patchy hemorrhages in the liver, splenomegaly, and cardiomegaly; and subdural, intracerebral, and intraventricular hemorrhages...
July 2016: Pediatric and Developmental Pathology
Myriam Ley-Martos, María J Salado-Reyes, Raúl Espinosa-Rosso, Jesús Solera-García, Luis Jiménez-Jiménez
INTRODUCTION: Pompe disease is a generalized progressive disease caused by a deficiency of the lysosome enzyme acid alpha-glucosidase (GAA). We present three cases with different clinical symptomatology and treated with enzyme replacement therapy (ERT) with positive evolution. CASE REPORTS: Case 1: three-month old male, with weakness and rejecting meals; mild hepatomegaly, discrete macroglossia and muscular hypotony; and increased muscular enzymes. Case 2: five-month old male, with delayed motor development, severe neurosensory deafness, and respiratory disorder of difficult evolution; muscular hypotony; and mild increase in creatine kinase...
November 1, 2015: Revista de Neurologia
Gema Mira-Perceval Juan, Pedro J Alcalá Minagorre, Ana M Huertas Sánchez, Sheila Segura Sánchez, Silvia López Iniesta, Francisco J De León Marrero, Estela Costa Navarro, María Niveiro de Jaime
The anaplastic large cell lymphoma is a rare entity in pediatric patients. We present an unusual case of pericardial involvement, quite uncommon as extranodal presentation of this type of disorder, that provoked a life-risk situation requiring an urgent pericardiocentesis. To our knowledge, this is the first report on a child with pericardial involvement without an associated cardiac mass secondary to anaplastic large cell lymphoma in pediatric age. We report the case of a 21-month-old Caucasian male infant with cardiac tamponade associated with the presentation of anaplastic large cell lymphoma...
2015: Case Reports in Pediatrics
Juan Ding, Yu Huang, Haipo Yang, Qingyou Zhang, Xinlin Hou, Xueqin Liu, Yanling Yang, Hui Xiong
OBJECTIVE: To summarize clinical features and diagnosis of Chinese infantile patients with glycogen storage disease type II (GSD II). METHOD: Six infant patients with GSD II diagnosed from January 2012 to June 2014 in the Department of Pediatrics, Peking University First Hospital were enrolled into this study. Clinical information of the 6 patients, including clinical manifestation, blood biochemistry, chest X-ray, echocardiogram, electrocardiogram, acid alpha-glucosidase (GAA) activity and GAA gene mutation analysis by direct sequencing of polymerase chain reaction (PCR) product were reviewed...
June 2015: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Harshavardhini Palanivel, Shashikala Nair, Anandhalakshmi Subramaniyan, Philip Vivian Joseph Ratnam, Reba Kanungo
BACKGROUND: Outbreaks of dengue infection occur in several parts of India with clockwork precision closely related to changing seasons. Most recent outbreak in Puducherry occurred between October 2012 and January 2013, affected a sizable pediatric population. A prospective study was done to characterize the demographic, diagnostic and clinical profile of pediatric patients in a tertiary care center in Puducherry. MATERIALS AND METHODS: Data of patients serologically positive for either dengue NS1 antigen or anti-dengue IgM antibodies were analyzed...
July 2015: Indian Journal of Pathology & Microbiology
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