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https://www.readbyqxmd.com/read/28631648/leiomyosarcoma-of-inferior-vena-cava-with-intracardiac-extension-presenting-as-budd-chiari-syndrome-report-of-a-rare-case
#1
Kaniyappan Nambiyar, Arvind Ahuja, Minakshi Bhardwaj
Primary leiomyosarcoma of vascular origin is a rare malignant smooth muscle tumor. This report describes a case of primary leiomyosarcoma of the inferior vena cava (IVC) in a 52-year-old male who presented with complaints of abdominal pain, chest pain, and bilateral lower limb swelling for 4 months. Imaging of the chest and abdomen revealed a mass in the IVC extending into right atrium, heterogeneous enhancement of liver, hepatosplenomegaly, and ascites. Histopathological examination showed a malignant spindle cell tumor with cells arranged in fascicular and hemangiopericytomatous pattern...
April 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28628471/haematological-involvement-associated-with-a-mild-autoinflammatory-phenotype-in-two-patients-carrying-the-e250k-mutation-of-pstpip1
#2
Elena Belelli, Chiara Passarelli, Manuela Pardeo, Dirk Holzinger, Fabrizio De Benedetti, Antonella Insalaco
OBJECTIVES: Hyperzincaemia/hypercalprotectinemia (Hz/Hc) syndrome is a recently described condition caused by a specific de novo mutation (E250K) affecting PSTPIP1 gene. It has a phenotype distinct from classical pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome that includes severe systemic and cutaneous inflammation, hepatosplenomegaly, arthritis without sequelae, pancytopenia and failure to thrive. METHODS: We describe an 8-year-old boy who presented recurrent right knee swelling mimicking septic arthritis and persistent bone marrow involvement, without cutaneous involvement...
June 19, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28625163/gamma-delta-%C3%AE-%C3%AE-t-cell-lymphoma-another-case-unclassifiable-by-world-health-organization-classification-a-case-report
#3
Hemant Sindhu, Ruqin Chen, Hui Chen, Jonathan Wong, Rashid Chaudhry, Yin Xu, Jen C Wang
BACKGROUND: We present a case of gamma-delta T-cell lymphoma that does not fit the current World Health Organization classifications. CASE PRESENTATION: A 74-year-old Caribbean-American woman presented with lymphocytosis, pruritus, and non-drenching night sweats. Bone marrow and peripheral blood analyses both confirmed the diagnosis of gamma-delta T-cell lymphoma. An axillary lymph node biopsy was negative for lymphoma. Clinically absent hepatosplenomegaly and skin lesions with biopsy-proven gamma-delta T-cell lymphoma suggest that she is unclassifiable within the current classification system...
June 19, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28611626/angioimmunoblastic-t-cell-lymphoma-mimicking-drug-reaction-with-eosinophilia-and-systemic-symptoms-dress-syndrome
#4
Joanna Mangana, Emmanuella Guenova, Katrin Kerl, Mirjana Urosevic-Maiwald, Valerie C Amann, Cornelia Bayard, Reinhard Dummer, Lars E French
Angioimmunoblastic T-cell lymphoma (AITCL) is a rare, aggressive lymphoma which derives from follicular helper T cells, commonly affecting the elderly population. It accounts for 2% of all non-Hodgkin lymphomas, with a reported 5-year overall survival rate of less than 30%. Very often, the clinical picture of AITCL encompasses systemic symptoms such as generalized lymphadenopathy, hepatosplenomegaly, skin rash, anemia, and polyclonal hypergammaglobulinemia. Here we report on the case of a female patient who presented with clinical features resembling drug reaction with eosinophilia and systemic symptoms (DRESS syndrome) prior to the definitive diagnosis of AITCL...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28604959/-analysis-of-tcirg1-gene-mutation-in-a-chinese-family-affected-with-infantile-malignant-osteopetrosis
#5
Min Wang, Tianping Chen, Ling Jin, Lijun Qu, Jian Wang, Yan Li, Jie Cheng, Zhe Xu, Chengjun Wang, Shan Gao
OBJECTIVE: To detect potential mutation of the TCIRG1 gene in a boy with infantile malignant osteopetrosis. METHODS: Target sequence capture and next-generation sequencing were applied for the proband and his parents to identify the causative mutation, and Sanger sequencing was used to verify the suspected mutation. RESULTS: The proband manifested at 4 months of age with symptoms including anemia, thrombocytopenia, hepatosplenomegaly, and cephalus quadratus...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28595195/gas6-oncogene-and-reverse-mllt3-kmt2a-duplications-in-an-infant-with-acute-myeloid-leukemia-and-a-novel-complex-hyperdiploid-karyotype-detailed-high-resolution-molecular-cytogenetic-studies
#6
Roberto R Capela de Matos, Daniela R Ney Garcia, Elaine Cifoni, Moneeb A K Othman, Mariana Tavares de Souza, Edna K Carboni, Gerson M Ferreira, Thomas Liehr, Raul C Ribeiro, Maria Luiza M Silva
Pediatric acute myeloid leukemia (AML) is a highly heterogeneous disease, presenting cytogenetic and molecular abnormalities which turned out to be critical prognostic factors. Ploidy changes as gain or loss of individual chromosomes are rare in AML, occurring only in about 1-2% of the affected children. Hyperdiploid karyotypes are exceedingly rare in infants less than 12 months of age. In this age group, structural rearrangements involving the KMT2A gene occur in about 58% of the cases. Among them, the translocation t(9;11)(p22;q23), KMT2A-MLLT3, is the most common abnormality accounting for approximately 22% of KMT2A rearrangements in infant AML cases...
June 9, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28588173/macrophage-activation-syndrome-in-paediatric-rheumatic-diseases
#7
M I Islam, M K Talukder, M M Islam, K Laila, S A Rahman
Macrophage activation syndrome (MAS) is a potentially fatal complication of rheumatic disorders, which commonly occurs in systemic juvenile idiopathic arthritis (sJIA).This study was carried out with the aims of describing the clinical features, laboratory findings and outcomes of MAS associated with paediatric rheumatic diseases in the Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University (BSMMU) and compare these results with previous studies on MAS. This retrospective study was conducted in the paediatric rheumatology wing of the Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh...
April 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28586473/exome-sequencing-identifies-two-variants-of-the-alkylglycerol-monooxygenase-gene-agmo-as-a-cause-of-relapses-in-visceral-leishmaniasis-in-children-in-sudan
#8
Sandrine Marquet, Bruno Bucheton, Camille Reymond, Laurent Argiro, Sayda Hassan El-Safi, Musa Mohamed Kheir, Jean-Pierre Desvignes, Christophe Béroud, Adil Mergani, Awad Hammad, Alain J Dessein
Background.: Visceral leishmaniasis (Kala-azar, KA) is the most severe form of leishmaniasis, characterized by fever, weight loss, hepatosplenomegaly and lymphadenopathy. During an outbreak of KA in Babar El Fugara (Sudan), 5.7% of cured patients displayed relapses, with familial clustering in half of the cases. Methods.: We performed whole-exome sequencing on 10 relapsing individuals and 11 controls from five nuclear families. Results.: Rare homozygous and compound-heterozygous nonsense (c...
June 6, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28584457/analysis-of-the-clinical-profile-in-patients-with-plasmodium-falciparum-malaria-and-its-association-with-parasite-density
#9
Praveen Mangal, Shilpa Mittal, Kamal Kachhawa, Divya Agrawal, Bhabagrahi Rath, Sanjay Kumar
BACKGROUND: Malaria remains a major health hazard in the modern world, particularly in developing countries. In Plasmodium falciparum malaria, there is a direct correlation between asexual erythrocytic stage parasite density and disease severity. Accordingly, the correlations between parasite density and various clinical presentations, severity, and outcome were examined in falciparum malaria in India. MATERIALS AND METHODS: The study was conducted in a tertiary health-care center in North India...
April 2017: Journal of Global Infectious Diseases
https://www.readbyqxmd.com/read/28583781/-macrophage-activation-syndrome-and-kawasaki-disease-four-new-cases
#10
B Dumont, P Jeannoel, L Trapes, E Rolland, C Gay, J-L Stephan
Macrophage activation syndrome (MAS) is a rarely reported complication of Kawasaki disease (KD). It must be sought during KD with unusual clinical signs, such as enlargement of the liver or spleen, cytopenia (including thrombocytopenia), and elevated serum triglycerides. Here, we report four cases from a single center. The first is the description of a case of KD occurring in an 11-month-old child 15 days after the occurrence of infectious spondylitis. For the second, acute myocarditis heralded KD in a 5-year-old child...
June 2, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28580156/castleman-s-disease-with-tafro-syndrome-a-case-report-from-syria
#11
Sami Alhoulaiby, Basel Ahmad, Ali Alrstom, Mayssoun Kudsi
Castleman's disease is a rare disorder, yet a rarer newly described syndrome called TAFRO syndrome was discovered to accompany it. TAFRO represents the constellation of symptoms (Thrombocytopenia, Anasarca, MyeloFibrosis, Renal failure, Organomegaly). Most cases were described in Japan. We present the first case of TAFRO syndrome in Syria. A 58-year-old Caucasian male with no relevant history presented with fatigue, oliguria, decreased platelets, increased creatinine level, hepatosplenomegaly, ascites, pitting edema and lymph node enlargement...
June 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28579852/treatment-of-myelofibrosis-old-and-new-strategies
#12
REVIEW
Alessandra Iurlo, Daniele Cattaneo
Myelofibrosis (MF) is a BCR-ABL1-negative myeloproliferative neoplasm that is mainly characterised by reactive bone marrow fibrosis, extramedullary haematopoiesis, anaemia, hepatosplenomegaly, constitutional symptoms, leukaemic progression, and shortened survival. As such, this malignancy is still orphan of curative treatments; indeed, the only treatment that has a clearly demonstrated impact on disease progression is allogeneic haematopoietic stem cell transplantation, but only a minority of patients are eligible for such intensive therapy...
2017: Clinical Medicine Insights. Blood Disorders
https://www.readbyqxmd.com/read/28574146/niemann-pick-type-c-as-a-cause-of-progressive-intellectual-and-neurological-deterioration-in-childhood
#13
Anne Marie Winstone, Lesley Ann Stellitano, Christopher Michael Verity
AIM: To describe the cases of Niemann-Pick type C (NP-C) disease in a United Kingdom epidemiological study of progressive intellectual and neurological deterioration in childhood. METHOD: Paediatricians notified cases via the British Paediatric Surveillance Unit between 1997 and 2015. RESULTS: Fifty-three NP-C patients were identified: 29 females, 24 males. Fifteen cases had a systemic presentation (neonatal jaundice and/or hepatosplenomegaly)...
June 2, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28571223/neonatal-hyperthyroidism-with-fulminant-liver-failure-a-case-report
#14
Mohammed Hasosah, Khalid Alsaleem, Mansour Qurashi, Abdullah Alzaben
Neonatal hyperthyroidism is a rare disease that is seen in infants born to mothers with Graves' disease. Hepatic manifestation of neonatal hyperthyroidism is extremely rare. We describe a neonate with fulminant liver failure secondary to neonatal hyperthyroidism caused by maternal Graves's disease. The baby was admitted with low birth weight and hepatosplenomegaly. At day 2 of life, the baby was irritable and he developed respiratory distress and fulminant hepatic failure which required mechanical ventilation...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28562515/secondary-hemophagocytic-lymphohistocytosis-in-a-child-with-brucellosis
#15
Esra Pekpak, Benhur Sirvan Cetin
Hemophagocytic lymphohistocytosis (HLH) is a potentially fatal hyperinflammatory syndrome that is characterized by proliferation of histiocytes and hemophagocytosis in different organs. The diagnostic criteria include fever, hepatosplenomegaly, bicytopenia, high serum ferritin level, decreased natural killer cell activity, elevated soluble CD25 level, high serum fasting triglyceride level or low fibrinogen level, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. HLH can be classified as primary and secondary...
May 29, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28553389/sandhoff-disease-without-hepatosplenomegaly-due-to-hexosaminidase-b-gene-mutation
#16
Vykuntaraju K Gowda, Raghavendraswami Amoghimath, Varun M Srinivasan, Maya Bhat
Sandhoff disease is a neurodegenerative disease caused due to deficiency of hexosaminidase (HEX) A and B. A 1-year-old male child presented with regression of milestones, exaggerated startle response, decreased vision, and seizures from 6 months of age. The child had coarse facies without hepatosplenomegaly. Serum levels of β hexosaminidase total (A + B) were low. Genetic testing for Sandhoff disease revealed a homozygous missense variant on HEXB gene. The case is presented to highlight that the absence of hepatosplenomegaly should not restrain in suspecting Sandhoff disease...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28548121/ebv-negative-aggressive-nk-cell-leukemia-lymphoma-a-clinical-and-pathological-study-from-a-single-institution
#17
Juehua Gao, Amir Behdad, Peng Ji, Kristy L Wolniak, Olga Frankfurt, Yi-Hua Chen
Aggressive natural killer (NK)-cell leukemia/lymphoma is a systemic NK-cell neoplasm that preferentially affects Asians with a fulminant clinical course and is almost always associated with Epstein-Barr virus (EBV). The data on EBV-negative aggressive NK-cell leukemia/lymphoma are limited. Here we report a series of three patients (two Caucasians, one African-American) with EBV-negative aggressive NK-cell leukemia/lymphoma from a single institution, including a case diagnosed on post-mortem examination. Similar to EBV-positive aggressive NK-cell leukemia/lymphoma, our patients presented with constitutional symptoms and hepatosplenomegaly, and followed a highly aggressive clinical course...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28538091/wolman-disease-a-mimic-of-infant-leukemia
#18
Kaduveettil G Gopakumar, Priyakumari Thankamony, Sheela Nampoothiri, Deeksha Bali, Jubie Raj, Jayasudha A Vasudevan, Ramachandran K Nair
BACKGROUND: Infant leukemia most commonly present with pallor and hepatosplenomegaly. The possibility of other differential diagnosis also has to be kept in mind during evaluation, as identifying the precise etiology for this clinical presentation is crucial for management. OBSERVATION: An infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion "c...
May 23, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28523896/hemophagocytic-lymphohistiocytosis-in-a-newborn-presenting-as-blueberry-muffin-baby
#19
Krista N Larson, Sergio R Gaitan, Benjamin J Stahr, Dean S Morrell
Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome characterized by uncontrolled activation and proliferation of proinflammatory cytokines. Initial presentation commonly includes fever, hepatosplenomegaly, and pancytopenia; 6 to 65% of cases also have a concurrent cutaneous eruption. We present the case of a 6-day-old premature infant boy with congenital severe thrombocytopenia, anemia, and hepatosplenomegaly who presented with several cutaneous violaceous papules and nodules and was found to have HLH...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28521786/role-of-routine-abdominal-ultrasonography-in-intensified-tuberculosis-case-finding-algorithms-at-hiv-clinics-in-high-tb-burden-settings
#20
Sonam Spalgais, Upasna Agarwal, Rohit Sarin, Devesh Chauhan, Anita Yadav, Anand Jaiswal
BACKGROUND: High proportion of TB in people living with HIV (PLHIV) is undiagnosed. Due to this active TB case finding is recommended for HIV clinics in high TB burden countries. Presently sputum examination and chest radiography are frontline tests recommended for HIV infected TB presumptives. Abdominal TB which occurs frequently in PLHIV may be missed even by existing programmatic intensified case finding protocols. This study evaluated the routine use of ultrasonography (USG) for active case finding of abdominal TB in HIV clinics...
May 18, 2017: BMC Infectious Diseases
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