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Hemophagocytic lymphohistiocytosis caused by multiple infections during primary chemotherapy for pediatric acute lymphoblastic leukemia: a case report.
Front Immunol
November 2024
Department of Neonatology, Shunde Women and Children's Hospital of Guangdong Medical University, Foshan, China.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disorder that occurs as a consequence of immune dysregulation. HLH can be primary (familial or non-familial) or secondary to infection, autoimmune disease or malignancy. Malignancy-associated HLH is often accompanied by hematologic and lymphoid neoplasms.
View Article and Find Full Text PDFPosterior Column Release and Lengthening with a Magnetic Growing Rod Construct in Severe Congenital Thoracic Fusion: A Report of 2 Cases.
JBJS Case Connect
October 2024
Department of Orthopedics, Children's Hospital Colorado, Aurora, Colorado.
Case: We describe treatment of severe multilevel congenital thoracic fusion in a 3-year-old girl with Apert Syndrome by posterior element excision, posterior column osteotomies, and gradual distraction with magnetically controlled growing rods (MCGR) with 3-year follow-up. We also describe short-term follow-up with similar management in an 8-year-old patient with a congenitally fused thoracic spine from Jarcho-Levin syndrome.
Conclusion: Posterior element resection and targeted posterior column osteotomies combined with gradual distraction with MCGR offers a promising treatment course for children with severe thoracic insufficiency syndrome derived from congenital fusions.
Case Report: Whole exome sequencing identifies compound heterozygous variants in the gene in a child with developmental delay.
Front Genet
August 2024
Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: Developmental delay in children under 5 years old, which occurs globally with an incidence of 10%-15%, is caused by multiple factors including genetics, prenatal conditions, perinatal complications, postnatal influences, social factors, and nutritional deficiencies. Gene variants such as , and play a significant role in protein deformation and downregulation of nuclear factor κB (NF-κB) activity.
Methods: A 3-year-old girl, who exhibits poor gross motor skills, personal-social development, auditory language, hand-eye coordination, and visual performance, was diagnosed with global developmental delay.
Metagenomic next-generation sequencing could play a pivotal role in validating the diagnosis of invasive mold disease of the central nervous system.
Front Cell Infect Microbiol
June 2024
Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Invasive mold diseases of the central nervous (CNS IMD) system are exceedingly rare disorders, characterized by nonspecific clinical symptoms. This results in significant diagnostic challenges, often leading to delayed diagnosis and the risk of misdiagnosis for patients. Metagenomic Next-Generation Sequencing (mNGS) holds significant importance for the diagnosis of infectious diseases, especially in the rapid and accurate identification of rare and difficult-to-culture pathogens.
View Article and Find Full Text PDFComplex mitochondrial disease caused by the mutation of COX10 in a toddler: a case-report study.
Ann Med Surg (Lond)
June 2024
Cellular and Molecular Research Center, Iran University of Medical Sciences, Tehran, Iran.
Article Synopsis
- - Cytochrome C oxidase (COX) deficiency is a rare inherited metabolic disorder that affects the enzyme responsible for a critical step in the mitochondrial respiratory chain, potentially impacting various body tissues.
- - A case study presented a 3-year-old girl who experienced muscle weakness and developmental decline, leading to the identification of a genetic mutation causing COX10 deficiency.
- - Diagnosing mitochondrial disorders like COX deficiency can be challenging, but treatment mainly involves supportive care and supplements, highlighting the need for genetic mutation identification to improve treatment options.
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