Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient.
Camurati Engelmann
Gait disturbance
TGFB-1
Journal
Pediatric rheumatology online journal
ISSN: 1546-0096
Titre abrégé: Pediatr Rheumatol Online J
Pays: England
ID NLM: 101248897
Informations de publication
Date de publication:
08 Oct 2024
08 Oct 2024
Historique:
received:
05
06
2024
accepted:
12
08
2024
medline:
9
10
2024
pubmed:
9
10
2024
entrez:
8
10
2024
Statut:
epublish
Résumé
Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal thickening of the long bones' diaphysis. This condition is caused by mutations in the transforming growth factor beta-1 (TGFB-1) gene and is typically inherited in an autosomal dominant pattern. Patients with CED often present with symptoms such as chronic bone pain, muscle weakness, fatigue, and difficulty walking. We report a 30-month-old boy who presented with gait abnormality. Initially, toxic synovitis was considered, and non-steroidal anti-inflammatory (NSAİ) treatment was administered. The patient did not respond to NSAİ treatment. Direct radiographs showed diaphyseal thickening, especially in the long bones. Radiologically, CED was suspected, and clinical exome sequencing identified a TGFB-1: c1121C > G (Pro374Arg) heterozygous mutation, which was interpreted as a possible pathogenic variant for CED. A clinical, radiologic, and genetic diagnosis of CED was made. Due to its rarity and variable clinical presentation, the diagnosis of CED can be challenging and often requires a high index of suspicion. Early and accurate diagnosis is crucial for managing symptoms and improving patients' quality of life.
Sections du résumé
BACKGROUND
BACKGROUND
Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal thickening of the long bones' diaphysis. This condition is caused by mutations in the transforming growth factor beta-1 (TGFB-1) gene and is typically inherited in an autosomal dominant pattern. Patients with CED often present with symptoms such as chronic bone pain, muscle weakness, fatigue, and difficulty walking.
CASE PRESENTATION
METHODS
We report a 30-month-old boy who presented with gait abnormality. Initially, toxic synovitis was considered, and non-steroidal anti-inflammatory (NSAİ) treatment was administered. The patient did not respond to NSAİ treatment. Direct radiographs showed diaphyseal thickening, especially in the long bones. Radiologically, CED was suspected, and clinical exome sequencing identified a TGFB-1: c1121C > G (Pro374Arg) heterozygous mutation, which was interpreted as a possible pathogenic variant for CED. A clinical, radiologic, and genetic diagnosis of CED was made.
CONCLUSION
CONCLUSIONS
Due to its rarity and variable clinical presentation, the diagnosis of CED can be challenging and often requires a high index of suspicion. Early and accurate diagnosis is crucial for managing symptoms and improving patients' quality of life.
Identifiants
pubmed: 39379987
doi: 10.1186/s12969-024-01016-9
pii: 10.1186/s12969-024-01016-9
doi:
Substances chimiques
Transforming Growth Factor beta1
0
TGFB1 protein, human
0
Types de publication
Case Reports
Journal Article
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
89Informations de copyright
© 2024. The Author(s).
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