To the best of our knowledge, thus far there are no reported cases of melanotic neuroectodermal tumor of infancy (MNTI) with multiple complications. In this case report, we describe the clinical phenotype of MNTI in a 9-month-old female infant associated with tetralogy of Fallot (TOF), a congenital heart defect, and congenital hypothyroidism (CH). Our study showed that the growth of MNTI was delayed by a lower dosage of levothyroxine (L-T4) that was prescribed to treat CH because of the presence of TOF, a severe congenital heart disease. However, the standardized dosage of L-T4 improved thyroid function but stimulated the rapid growth of MNTI. Our report demonstrated that treatment with L-T4 affects the progression of MNTI. Our findings demonstrated the role of thyroid hormone in MNTI growth and progression. Furthermore, our study suggested that the treatment of co-morbidities in children with MNTI requires careful consideration of their effects on the growth and progression of MNTI.
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http://dx.doi.org/10.3389/fcvm.2022.924538 | DOI Listing |
Clin Chim Acta
December 2024
Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Center of Laboratory Medicine, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.
Copy number variations (CNVs) in the 7q11.2 and 22q11.2 chromosomal regions are major contributors to genetic disorders such as Williams-Beuren syndrome and 22q11.
View Article and Find Full Text PDFEur J Med Genet
December 2024
CHU Lille, Institut de Génétique Médicale, F-59000 Lille, France; Univ. Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, F-59000 Lille, France. Electronic address:
The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause Intellectual Developmental Disorder, X-linked Syndromic (MIM #300967), characterised by intellectual disability, neurodevelopmental delay, cardiomyopathy, such as left ventricular non-compaction (LVNC), and congenital heart defects such as including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and patent foramen ovale (PFO). This study reports three new patients with pathogenic hemizygous frameshift variants in NONO identified with exome sequencing, broadening the clinical presentation.
View Article and Find Full Text PDFMol Cell Pediatr
December 2024
Department of Paediatric Cardiology, University Hospital, Liège, Belgium.
Background: In neonates with congenital heart disease (CHD), myocardial remodelling involves activation of inflammatory pathways. The role of hypoxemia related pathways is however unknown. This study was therefore designed to investigate myocardial mRNA expression of interleukin (IL)-6 and hypoxia-inducible factor (HIF)-1α in neonates with CHD and analyse its influence on post-operative outcome.
View Article and Find Full Text PDFPediatr Radiol
December 2024
Department of Radiology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, USA.
Dynamic contrast-enhanced magnetic resonance lymphangiography is a high-resolution imaging technique that has emerged as the preferred method for evaluating lymphatic anatomy and flow dynamics due to its precise anatomical detail. The lymphatic system has a complex anatomical distribution, and variability is common among individuals with cardiac abnormalities, particularly congenital heart disease. Lymphatic imaging has recently been revolutionized by the introduction of MR lymphangiography.
View Article and Find Full Text PDFJACC Clin Electrophysiol
November 2024
Department of Cardiology, AZ Sin Jan Bruges, Bruges, Belgium. Electronic address:
Background: Sudden cardiac death (SCD) is generally associated with life-threatening ventricular arrhythmias. Supraventricular arrhythmias are an accepted cause of SCD in Wolff-Parkinson-White syndrome and complex congenital heart disease. However, the role of atrial tachyarrhythmias (ATAs) in SCD in patients with structurally normal hearts is unclear.
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