Letter to the Editor: Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever [PDF]
Iranian Journal of Immunology, 2020 Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of apoptosis, most commonly due to mutations in the FAS (TNFRSF6) gene. ALPS caused by defective lymphocyte homeostasis is characterized by non-malignant lymphoproliferation that
Sultan Aydin Koker +5 more
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Does level of training Influence the ability to detect hepatosplenomegaly in children with leukemia? [PDF]
, 2012 Background: Children with leukemia often have hepatosplenomegaly present. This can be diagnosed with physical examination and confirmed with ultrasound.
Cyr, Janelle +3 more
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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
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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
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Approach to Hereditary Storage Diseases in Patients with Hepatosplenomegaly [PDF]
, 2015 How to Cite This Article: Razzaghy Azar M. Approach to Hereditary Storage Diseases in Patients with Hepatosplenomegaly. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 18-19. Pls see pdf.
Razzaghy Azar, Maryam
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A rare case of massive hepatosplenomegaly due to acute lymphoblastic leukaemia in pregnancy [PDF]
, 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.
Meel, R. +5 more
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A patient with leishmaniasis presenting with longstanding pancytopenia and hepatosplenomegaly
, 2023 Leishmaniasis is a common cause of pancytopenia and hepatosplenomegaly in tropical and subtropical regions. A high index of suspicion is required to diagnose and manage patients with leishmaniasis.
Evelyne Mulwa +2 more
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Blau syndrome with hypertension and hepatic granulomas: a case report and literature review
Frontiers in Pediatrics, 2023 BackgroundBlau syndrome (BS) is a monogenic disorder caused by NOD2 gene variants characterized by the triad of granulomatous polyarthritis, rash, and uveitis. Atypical symptoms were recognized in one-third to one-half of individuals with BS.
Fangling Yao +4 more
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PROBLEM OF DIAGNOSIS OF EARLY CONGENITAL SYPHILIS
Детские инфекции (Москва), 2015 The paper presents a case of delayed diagnosis of early congenital syphilis in a child whose mother was observed in prenatal clinic starting from the 14th week of pregnancy. The child had specific skin rash already in maternity.
G. P. Martynova, N. F. Kuznetsova
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Frontiers in Pediatrics, 2019 Perinatal lethal Gaucher disease (PLGD), a particular and serious form of type 2 Gaucher disease (GD), often causes lethality in utero or death within hours after birth.
Meili Wei +3 more
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