Publications by authors named "Gabriel Peluffo"
Fibrodysplasia ossificans progressiva in a 3-year-old female patient.
Bol Med Hosp Infant Mex
March 2023
Background: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease affecting connective tissue, primarily caused by de novo mutations of the ACVR1 gene. FOP is a disease with congenital malformations of the toes and heterotopic ossification in characteristic patterns that progresses with flare-ups and remissions. Cumulative damage results in disability and, eventually, death.
View Article and Find Full Text PDFPrimary meningococcal arthritis of the hip due to serogroup W in a pediatric patient.
Bol Med Hosp Infant Mex
December 2021
Article Synopsis
- Primary Meningococcal Arthritis (PMA) is an infection in the joints caused by Neisseria meningitidis, occurring without signs of sepsis or meningitis, and this report focuses on a rare case in Uruguay caused by serogroup W.
- A 5-year-old girl presented with a fever and joint limp, where tests confirmed the infection but showed no growth in synovial fluid culture, while blood cultures identified serogroup W.
- Treatment involved antibiotics and joint drainage, leading to significant improvement, highlighting the importance of proper diagnosis and the rising concern over serogroup W in regional epidemiology.
Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X-linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome.
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