ArticleCureus2024
A Rare Presentation of a 12-Year-Old With Systemic Infantile Hyalinosis: A Case Report and Review of the Literature.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07173010 (Pediatric Arthropathy Beyond Inflammation), which is not on this map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This case report presents the clinical manifestation and diagnostic testing of a 12-year-old male diagnosed with systemic infantile hyalinosis (SIH) at the Maternity and Children Hospital in Madinah in 2012. The patient presented with typical SIH symptoms, including painful joint contractures, hyperpigmented knuckles, gingival hypertrophy, subcutaneous nodules, and recurrent infections. Whole exome sequencing (WES) analysis identified a homozygous mutation in the ANTXR2 gene, which is a deletion in exon 13 (c.1074delT; p.A359HfsX50), confirming the diagnosis. Notably, this patient's survival beyond the typical age expectancy of SIH, which is usually within the first few years of life, challenges the usual prognosis associated with this disease. This case emphasizes the importance of early diagnosis through clinical suspicion confirmed by genetic analysis and highlights the variability in disease presentation and prognosis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.