AI Article Synopsis
- - Noonan Syndrome with Multiple Lentigines (NSML), previously called LEOPARD syndrome, is a rare genetic condition that typically causes heart issues, especially hypertrophic cardiomyopathy (HCM).
- - The case presented involves a patient with NSML who exhibits an uncommon and uneven pattern of cardiac hypertrophy rather than the typical symptoms.
- - This unique presentation highlights the variability in how NSML can affect individuals, particularly regarding heart health.
Article Abstract
Noonan Syndrome with Multiple Lentigines (NSML-formerly known as LEOPARD syndrome) is a rare autosomal dominant condition that usually exhibits cardiac involvement with hypertrophic cardiomyopathy (HCM). Here we present a case of a NSML patient with an unusual and patchy cardiac hypertrophy distribution.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s10554-024-03185-w | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A patient with a PTPN11 gene variant complicated with Chiari I malformation and syringomyelia and a review of literatures.
Int J Dev Neurosci
February 2025
Department of Pediatric Neurology, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
Background: According to previous literature reports, PTPN11 gene variants account for approximately 50% of Noonan syndrome (NS) cases and 85% of Leopard syndrome (LS) cases. Several patients who were diagnosed with NS or LS complicated with Chiari I malformation (CIM) and/or syringomyelia have been reported to have a PTPN11 variant. However, it is not always clear whether the association between CIM and/or syringomyelia and PTPN11 variants is real or random.
View Article and Find Full Text PDFAtypical Multifocal Granular Cell Tumor with FLT3 Y842C Somatic Mutation: A case report and a review of the literature.
Tunis Med
October 2024
Washington DC VA Medical Center, Department of Pathology, 20422, Washington, DC, USA.
Introduction: Granular cell tumors (GCT) are predominantly benign neoplasms composed by cells with abundant eosinophilic granular cytoplasm. Although the majority of GCTs exhibit a benign clinical course, a minority display cytological atypia and may exhibit aggressive, cancer-like behavior. Definitive evidence of malignancy in GCTs is reliably established only through the presence of metastasis.
View Article and Find Full Text PDFCase report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient.
Front Neurol
September 2024
Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Article Synopsis
- The RASopathies are a group of genetic syndromes caused by mutations in the RAS/MAPK signaling pathway, affecting conditions like neurofibromatosis type 1, Noonan syndrome, and others, often leading to similar symptoms due to abnormal cell growth.
- Epidermal nevus syndromes are characterized by skin nevi alongside other systemic issues, with recent findings indicating that mosaic RAS mutations may contribute to these conditions.
- A case study details a child's treatment with the MEK inhibitor selumetinib, demonstrating stabilization of nerve hypertrophy and improvement of skin lesions, highlighting the potential for targeted therapies beyond currently established uses for RASopathy-related symptoms.
LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review.
ESC Heart Fail
August 2024
Department of Magnetic Resonance Imaging, Fuwai Hospital and National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Age-related retinal degeneration resulting from the deletion of Shp2 tyrosine phosphatase in photoreceptor neurons.
Cell Death Dis
August 2024
Department of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.
Article Synopsis
- Shp2 is a vital protein that regulates cellular functions and is linked to several health issues, including obesity and cancer.
- This research highlights Shp2's significant presence in rod photoreceptor cells and demonstrates that its absence leads to age-related degeneration of these cells.
- The study identifies that Shp2 influences the expression of occludin, a key protein for cell junctions, and affects cell cycle regulation and retinal metabolism when deleted in rod cells.
Want 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!