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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. This report aimed to describe a case of FOP to highlight the importance of early diagnosis of this rare condition. Case report: We describe the case of a 3-year-old female diagnosed with congenital hallux valgus, who initially presented with soft tissue tumors, predominantly in the neck and chest, with partial remission. Multiple diagnostic tests were performed, including biopsies and magnetic resonance imaging, with nonspecific results. We observed ossification of the biceps brachii muscle during evolution. The molecular genetic study found a heterozygous ACVR1 gene mutation that confirmed FOP. Conclusions: Knowledge of this rare disease by pediatricians is critical for an early diagnosis and for avoiding unnecessary invasive procedures that may promote disease progression. In case of clinical suspicion, performing an early molecular study is suggested to detect ACVR1 gene mutations. The treatment of FOP is symptomatic and focused on maintaining physical function and family support.

Background: Myiasis is an emerging disease caused by tissue invasion of dipteran larvae. In Uruguay, Cochliomyia hominivorax and Dermatobia hominis are the most frequent species. This study aimed to describe the epidemiological and clinical characteristics and the follow-up of children < 15 years hospitalized for myiasis in a reference center in Uruguay between 2010 and 2019. Methods: We conducted a descriptive and retrospective study by reviewing medical records. We analyzed the following variables: age, sex, comorbidities, origin, the month at admission, clinical manifestations, other parasitoses, treatments, complications, and larva species identified. Results: We found 63 hospitalized children: median age of 7 years (1 month–14 years), 68% of females. We detected risk comorbidities for myiasis (33%), of which chronic malnutrition was the most frequent (n = 6); 84% were from the south of the country; 76% were hospitalized during the summer. Superficial and multiple cutaneous involvements were found in 86%: of the scalp 50, furunculoid type 51, secondary to C. hominivorax 98.4%, and to D. hominis in 1.6%. As treatments, larval extraction was detected in all of them, surgical in 22%. Asphaltic products for parasites were applied in 94%, ether in 49. Antimicrobials were prescribed in 95%; cephradine and ivermectin were the most frequent. About 51% presented infectious complications, impetigo was found in 29, cellulitis in 2, and abscess in 1. Conclusions: Myiasis predominantly affected healthy schoolchildren during the summer months and was frequently associated with ectoparasites. Superficial infestation of the furuncle-like scalp by C. hominivorax was the most frequent form. Infectious complications motivated hospitalizations.

Background: Primary meningococcal arthritis (PMA) is defined as the presence of acute septic arthritis with the identification of Neisseria meningitidis in synovial fluid or blood cultures but no clinical evidence of sepsis or meningitis. This report aimed to describe a clinical case of PMA caused by serogroup W, an uncommon etiology of this disease in Uruguay, and review the available literature. Case report: We report the case of a 5-year-old female, with no past medical history, admitted to the emergency department with a 12-hour history of fever of 39 °C and a limp. The patient was hemodynamically stable and had no clinical evidence of meningitis. Hip ultrasound showed an increase in synovial fluid. Arthrocentesis showed purulent exudate and synovial fluid culture showed no growth after five days. The blood culture showed isolates of N. meningitidis, serogroup W. The patient received treatment with ceftriaxone, and drainage of the affected joint was performed with excellent clinical response. Conclusions: Primary meningococcal arthritis is a rare presentation of meningococcal disease. Systematic arthrocentesis and the adequacy of antibiotic therapy when septic arthritis is clinically suspected are essential for confirming the diagnosis and decompressive drainage of the involved joint. This report is the first of PMA caused by serogroup W in Uruguay. Although the most common serogroup involved in meningococcal arthritis is serogroup B in Uruguay, an increase in serogroup W-related diseases has been reported in Chile and Argentina, emphasizing the need for epidemiological surveillance.