Results 31 to 40 of about 32,645 (198)

From hepatosplenomegaly to genetic diagnosis: A case of congenital disorder of glycosylation type IIb due to mannosyl-oligosaccharide glucosidase mutation

Journal of Integrative Medicine and Research
Congenital disorders of glycosylation (CDG) are rare metabolic conditions with heterogeneous presentations, often complicating diagnosis. We report a 5-year-old male born to consanguineous parents, presenting with a 2-year history of painless abdominal ...
Hari Nandan Reddy Golla, Srinivas Adari, Nirmal Kumar Mohakud, Swarnalata Das, Amit Ranjan Rup   +4 more
doaj   +1 more source

Familial Hemophagocytic Lymphohistiocytosis Presenting as Hydrops Fetalis

American Journal of Perinatology Reports, 2015
Background Familial hemophagocytic lymphohistiocytosis (FLH) is an autosomal recessive disorder of immune regulation that leads to a hyperinflammatory syndrome. Fetal onset FHL is extremely rare and is considered to be the most severe form of FHL.
Sota Iwatani, Kazuya Uemura, Masami Mizobuchi, Seiji Yoshimoto, Keiichiro Kawasaki, Yoshiyuki Kosaka, Masayuki Hori, Takahiro Yasumi, Hideto Nakao   +8 more
doaj   +1 more source

Pediatric Systemic Lupus Erythematosus Complicated by Acute EBV and CMV Co‐infection

Journal of Clinical Laboratory Analysis, EarlyView.
This case report describes a 10‐year‐old girl with new‐onset pediatric SLE who presented with malar rash, fever, and arthritis following sun exposure, alongside serological evidence of acute Epstein–Barr virus (EBV) and cytomegalovirus (CMV) co‐infection.
Anning Chen, Gengchun Ji, Ziping Lan, Ping Li, Jianwei Wang, Le Zhang, Chaojun Hu, Shulan Zhang   +7 more
wiley   +1 more source

Breastfeeding-associated congenital syphilis in an infant of a seronegative mother: a case report

Zdorovʹe Rebenka
Syphilis, caused by Treponema pallidum, can be transmitted congenitally from mother to child during pregnancy, delivery, or even after birth. This case report presents an unusual manifestation: a 1-month and 25-day-old male infant diagnosed with ...
Samuel Sembor, Diah Ayu Pitaloka
doaj   +1 more source

Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency

Case Reports in Gastroenterology, 2019
Lysosomal acid lipase deficiency (LALD) is a rare genetic disease characterized by the accumulation of cholesteryl esters and triglycerides in many organs, including the liver, spleen, lymph nodes, bone marrow, and vascular endothelium.
Maria Zharkova, Tatiana  Nekrasova, Vladimir  Ivashkin, Marina  Maevskaya, Tatyana Strokova   +4 more
doaj   +1 more source

Myeloid sarcoma presenting as an isolated pancreatic mass in a 3‐year‐old child

JPGN Reports, EarlyView.
Abstract Myeloid sarcoma (MS) is an extramedullary tumor of myeloid precursor cells, frequently associated with acute myeloid leukemia (AML), and rarely occurring in isolation. We present a child with obstructive jaundice secondary to a pancreatic head mass.
Jappmann Kaur Monga, Cara L. Mack, Michelle Saad, Dylan Applin, Maisam Abu‐El‐Haija, David Vitale, Zachary Graff, Gila Ginzburg   +7 more
wiley   +1 more source

Seronegative Antiphospholipid Syndrome: A Challenging Case Report

Clinical Case Reports
Seronegative antiphospholipid syndrome (SN‐APS) is uncommon and challenging condition, which should be included in the differential diagnosis of stroke in young, since it can result in arterial thrombosis.SN‐APS is typically diagnosed by exclusion ...
Eihab A. Subahi, Soha Aboukhalaf, Shahd Mohammedain, Sagda Sayed, Elrazi A. Ali, Mohamed Subahi, Ijaz Kamal   +6 more
doaj   +1 more source

Plummer–Vinson syndrome in a 10‐year‐old boy from Côte d'Ivoire: An exceptional paediatric case with African context

JPGN Reports, EarlyView.
Abstract Plummer–Vinson syndrome (PVS) is characterised by the triad of dysphagia, iron‐deficiency anaemia, and proximal oesophageal webs. While well described in adults, paediatric cases remain exceptionally rare, particularly in sub‐Saharan Africa.
Paul Mike Tayou Mbobda, Hatrydt Guillaume Dimitri Kouamé, Amadou Ouattara   +2 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Putative Novel Genotype of Avian Hepatitis E Virus, Hungary, 2010

Emerging Infectious Diseases, 2012
To explore the genetic diversity of avian hepatitis E virus strains, we characterized the near-complete genome of a strain detected in 2010 in Hungary, uncovering moderate genome sequence similarity with reference strains.
Krisztián Bányai, Ádám György Tóth, Éva Ivanics, Róbert Glávits, Katalin Szentpáli-Gavallér, Ádám Dán   +5 more
doaj   +1 more source