1 - Medicina Física e de Reabilitação, Centro Hospitalar Universitário Lisboa Central
2 - Medicina Física e de Reabilitação, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central
- Congresso Internacional de MFR “ISPRM 2022 - 16th World Congress em Lisboa de 3 a 7 de julho de 2022”, sob forma de resumo, em formato de poster.
Introduction: Pediatric trigger finger (TF) is a rare condition with poorly understood etiology. In 29% of cases it has a primary cause, including mucopolysaccharidosis (MPS). In our Outpatient PM&R clinic, pediatric TF is usual, making the awareness of primary etiologies important. The existence of a fee-free Portuguese project on MPS-genetic-testing (FIND Project) allows the deepening of the diagnosis.
Aims: The purpose of this study is to present our project to find the association between TF and MPS in a pediatric population.
Methods: Retrospective study of pediatric patients admitted due to TF (september 2017-march 2022). Isolated trigger thumb cases were excluded. A comprehensive medical history chart was built, focusing on significant clinical findings in MPS patients. Informatic clinical files were reviewed and telephone enquiries performed if information was lacking.
Results: Seven children were included, ages at diagnosis between 6 months and 2 years. Four patients had bilateral single TF. Two had two TF in the same hand. One had multiple TFs in both hands. None of these children had previous diagnosis of metabolic disease. All clinical charts were reviewed to find history of other symptoms associated with MPS. Only one patient reported having multiple of these. All patients were asked to further evaluate the possibility of MPS, submitting to the FIND Project digit prick test. Presently the blood samples are being evaluated.
Conclusions: One third of pediatric TF have a primary cause. The main characteristics of pediatric TF associated with underlying MPS are bilateral cases, multiple fingers committed, association with carpal tunnel syndrome and dysmorphic characteristics. Clinicians must be aware of these associations and do further investigation.
Palavras Chave: Mucopolysaccharidosis, Screening, Trigger finger