Niemann-Pick disease type B. Study of 3 cases and literature revision
Acta Pediátrica de México, 2014 Objective: To describe the course of type B Niemann-Pick disease (ENP-B) by following the evolution of three pediatric patients. Methods: Three patients, two of them male, age between two and eleven years, with type B Niemann-Pick disease were evaluated ...
Jorge Zarco-Román +4 more
doaj +1 more source
A hemophagocytic lymphohistiocytosis case with newly defined UNC13D (C.175G>C; p.Ala59Pro) mutation and a rare complication [PDF]
, 2015 Hemophagocytic lymphohistiocytosis (HLH) represents a severe hyperinflammatory condition with cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages with impaired ...
Akpınar, Funda Özgürler +7 more
core +2 more sources
Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma [PDF]
Journal of Clinical and Diagnostic Research, 2017 Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis.
Jyoti Ramnath Kini +4 more
doaj +1 more source
Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation
Journal of Pediatric Neurosciences, 2017 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 ...
Vykuntaraju K Gowda +3 more
semanticscholar +1 more source
A rare case of massive hepatosplenomegaly due to acute lymphoblastic leukemia in pregnancy.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2017 Acute lymphoblastic leukaemia (ALL) is rarely seen in pregnancy. Massive hepatosplenomegaly as a presentation of ALL has not been described previously in any patient population. A 30-year-old pregnant woman presented at 16 weeks' gestation with epistaxis,
R. Gonçalves, R. Meel
semanticscholar +1 more source
A multi-parametric analysis of Trypanosoma cruzi infection: common pathophysiologic patterns beyond extreme heterogeneity of host responses [PDF]
, 2017 The extreme genetic diversity of the protozoan Trypanosoma cruzi has been proposed to be associated with the clinical outcomes of the disease it provokes: Chagas disease (CD).
Chillón-Marinas, Carlos +6 more
core +3 more sources
Hepatosplenic sarcoidosis complicated by liver cirrhosis [PDF]
, 2015 Sarcoidosis is a multisystemic disease usually affecting the lungs and mediastinal lymph nodes. Other organs, such as the liver and the spleen, are less commonly involved. Patients usually present with mild nonspecific symptoms.
Bernard, Philippe +4 more
core +3 more sources
Isolated abdominal sarcoidosis presenting with hypercalcemic crisis: A rare case
MAMC Journal of Medical Sciences, 2015 Sarcoidosis is a granulomatous disease of unknown origin, with pulmonary findings in more than 90% of patients. Extrapulmonary involvement is common and all organs can be involved (especially lymph nodes, eyes, joints, and central nervous system) but it ...
Nidhi Anand +3 more
doaj +1 more source
Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report [PDF]
, 2019 We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in
Bobbert, Thomas +8 more
core +1 more source
Intravascular Large B-Cell Lymphoma Presenting as Dementia and Hemolytic Anemia [PDF]
, 2010 Background: Intravascular lymphoma (IVL) is an uncommon disease characterized by atypical lymphoid cells growing inside the lumina of small vessels. The diversity of clinical presentation due to possible involvement of multiple organs often complicates ...
Ahle, Guido +6 more
core +1 more source