A Turkish female infant of 96 days was admitted to the pediatric emergency room because of inconsolable crying, persistent cough, and difficulty in feeding during the previous day. She was conscious and did not show any signs or symptoms of multiorgan failure. A few minutes afterwards, the child experienced cardiac arrest with an initial cardiac rhythm of asystole and died 75 minutes later following cardiopulmonary resuscitation maneuvers. As the pathological cause of death, autopsy findings revealed a rare type of idiopathic infantile arterial calcification resulting from a mutation in the gene encoding for the ENPP1 enzyme.

Download full-text PDF

Source
http://dx.doi.org/10.1714/2190.23670DOI Listing

Publication Analysis

Top Keywords

idiopathic infantile
8
infantile arterial
8
[molecular biology
4
biology diagnostic
4
diagnostic tool
4
tool newborn
4
newborn emergency
4
emergency department
4
department rare
4
rare case
4

Similar Publications

The clinical assessment of lung involvement in patients with Still's disease, results from the multicentre international AIDA Network Still's Disease Registry.

Rheumatology (Oxford)

January 2025

Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy.

Objectives: To assess the lung involvement in patients with Still's disease, an inflammatory disease assessing both children and adults. To exploit possible associated factors for parenchymal lung involvement in these patients.

Methods: A multicentre observational study was arranged assessing consecutive patients with Still's disease characterized by the lung involvement among those included in the AIDA (AutoInflammatory Disease Alliance) Network Still's Disease Registry.

View Article and Find Full Text PDF

Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, nephrocalcinosis, vomiting, dehydration, and failure to thrive. It is caused by the presence of biallelic loss-of-function variants in the locus. Although hypercalcemia has been linked to the consumption of vitamin D-fortified milk, no reports have documented its role in triggering IIH in patients with variants.

View Article and Find Full Text PDF

Isolated Temporomandibular Arthritis as Presentation of Juvenile Idiopathic Arthritis.

J Craniofac Surg

January 2025

Rheumatology Unit, Department of Childhood and Developmental Medicine, ASST Fatebenefratelli-Sacco, Milano, MI.

Involvement of the temporomandibular joint (TMJ) in patients with juvenile idiopathic arthritis (JIA) has been increasingly reported, affecting up to 87% of cases. This involvement generally occurs after the diagnosis of JIA has been established; however, in the authors' cases, as in a few others documented in the literature, patients presented with isolated TMJ arthritis as the sole joint involvement. The authors performed a narrative literature review on TMJ involvement in JIA and reported 2 cases that presented with isolated TMJ arthritis as the initial manifestation of JIA.

View Article and Find Full Text PDF

This study aimed to discuss the pathogenic hereditary factors of children with steroid-resistant nephrotic syndrome (SRNS) in Guangxi, China. We recruited 89 patients with SRNS or infantile NS from five major pediatric nephrology centers in Guangxi, and conducted a retrospective analysis of clinical data. Whole-exome sequencing analysis was also performed on all patients.

View Article and Find Full Text PDF

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!