Objective: To analyze the clinical data and genetic characteristics of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferritinemia cataract syndrome (HHCS).
Methods: A child who was admitted to the PICU of the First Affiliated Hospital of Zhengzhou University in November 2020 was selected as the study subject. Clinical data of the child was collected. Genetic testing was carried out for the child, and the result was analyzed in the light of literature review to explore the clinical and genetic characteristics to facilitate early identification.
Results: The patient, a 3-year-old male, had mainly presented with visual impairment, progressive cognitive and motor regression, and epilepsy. Cranial magnetic resonance imaging revealed deepened sulci in bilateral cerebral hemispheres, and delayed myelination. The activity of palmitoyl protein thioesterase was low (8.4 nmol/g/min, reference range: 132.2 ~ 301.4 nmol/g/min), whilst serum ferritin was increased (2417.70 ng/mL, reference range: 30 ~ 400 ng/ml). Fundoscopy has revealed retinal pigment degeneration. Whole exome sequencing revealed that he has harbored c.280A>C and c.124-124+3delG compound heterozygous variants of the PPT1 gene, which were respectively inherited from his father and mother. Neither variant has been reported previously. The child has also harbored a heterozygous c.-160A>G variant of the FTL gene, which was inherited from his father. Based on the clinical phenotype and results of genetic testing, the child was diagnosed as CLN1 and HHCS.
Conclusion: The compound heterozygous variants of the PPT1 gene probably underlay the disorders in this child. For children with CLN1 and rapidly progressing visual impairment, ophthalmological examination should be recommended, and detailed family history should be taken For those suspected for HHCS, genetic testing should be performed to confirm the diagnosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.cn511374-20230112-00025 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Application of the Sponge Model Implants in the Study of Vaccine Memory in Mice Previously Immunized with LBSap.
Vaccines (Basel)
November 2024
Laboratory of Biology of Cellular Interactions, Department of Morphology, Federal University of Minas Gerais, Belo Horizonte 31270-901, MG, Brazil.
Background/objectives: Considering the large number of candidates in vaccine-testing studies against different pathogens and the amount of time spent in the preclinical and clinical trials, there is a pressing need to develop an improved in vivo system to quickly screen vaccine candidates. The model of a polyester-polyurethane sponge implant provides a rapid analysis of the specific stimulus-response, allowing the study of a compartmentalized microenvironment. The sponge implant's defined measurements were standardized as a compartment to assess the immune response triggered by the vaccinal antigen.
View Article and Find Full Text PDFMultidrug-Resistant Strains in a Hospital: Phylogenetic Analysis to Investigate Local Epidemiology.
Microorganisms
December 2024
Operative Research Unit of Laboratory, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo, 200, 00128 Rome, Italy.
Multidrug-resistant is a significant healthcare challenge that particularly affects vulnerable patients through opportunistic nosocomial infections. Surveillance is crucial for monitoring the prevalence of these infections. Eighty-four KPC strains (2019-2022) were collected from patients admitted in Fondazione Policlinico Universitario Campus Bio-Medico.
View Article and Find Full Text PDFGenomic Insights into Host Susceptibility to Periprosthetic Joint Infections: A Comprehensive Literature Review.
Microorganisms
December 2024
Orthopedic Surgery Department, Cleveland Clinic, Weston, FL 33331, USA.
Periprosthetic joint infection (PJI) is a multifactorial disease, and the risk of contracting infection is determined by the complex interplays between environmental and host-related factors. While research has shown that certain individuals may have a genetic predisposition for PJI, the existing literature is scarce, and the heterogeneity in the assessed genes limits its clinical applicability. Our review on genetic susceptibility for PJI has the following two objectives: (1) Explore the potential risk of developing PJI based on specific genetic polymorphisms or allelic variations; and (2) Characterize the regulatory cascades involved in the risk of developing PJI.
View Article and Find Full Text PDFPhenotypic and Genotypic Analysis of Antimicrobial Resistance in Isolated from Pigs with Enzootic Pneumonia in Australia.
Pathogens
November 2024
The Davies Livestock Research Centre, School of Animal and Veterinary Sciences, University of Adelaide, Adelaide, Adelaide, SA 5005, Australia.
, an important cause of enzootic pneumonia in pigs in many countries, has recently been shown to exhibit reduced susceptibility to several antimicrobial classes. In the present study, a total of 185 pig lung tissue samples were collected from abattoirs in Australia, from which 21 isolates of were obtained. The antimicrobial resistance profile of the isolates was determined for 12 antimicrobials using minimum inhibitory concentration (MIC) testing, and a subset ( = 14) underwent whole-genome sequence analysis.
View Article and Find Full Text PDFAutomatic Single-Cell Harvesting for Fetal Nucleated Red Blood Cell Isolation on a Self-Assemble Cell Array (SACA) Chip.
Micromachines (Basel)
December 2024
Department of Engineering and System Science, National Tsing Hua University, Hsinchu 30013, Taiwan.
(1) Background: Fetal chromosomal examination is a critical component of modern prenatal testing. Traditionally, maternal serum biomarkers such as free β-human chorionic gonadotropin (Free β-HCG) and pregnancy-associated plasma protein A (PAPPA) have been employed for screening, achieving a detection rate of approximately 90% for fetuses with Down syndrome, albeit with a false positive rate of 5%. While amniocentesis remains the gold standard for the prenatal diagnosis of chromosomal abnormalities, including Down syndrome and Edwards syndrome, its invasive nature carries a significant risk of complications, such as infection, preterm labor, or miscarriage, occurring at a rate of 7 per 1000 procedures.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!