In this case report, we discuss a rare tarsal coalition occurring bilaterally between the navicular and the medial cuneiform in a 15-year-old girl and highlight the management of such cases.
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http://dx.doi.org/10.7547/0003-0538-105.2.181 | DOI Listing |
J Med Case Rep
January 2025
Department of Orthopaedics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Background: Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries, recurrent infections, and mental retardation.
View Article and Find Full Text PDFBackground: Antibiomania is the manifestation of manic symptoms secondary to taking an antibiotic, which is a rare side effect. In these cases, the antibiotics most often incriminated are macrolides and quinolones, but to our knowledge, there are no published cases of antibiomania secondary to cotrimoxazole. Furthermore, we also provide an update of pharmacovigilance data concerning antibiomania through a search of the World Health Organization (WHO) database.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Postbus, Groningen, 30001 - 9700 RB, the Netherlands.
Background: Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on a combination of different biomarkers, mostly routine clinical chemical markers and subsequent genetic confirmation.
View Article and Find Full Text PDFBMC Pediatr
January 2025
Department of Paediatrics, Nnamdi Azikiwe University, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Anambra state, Nigeria.
Background: Soft tissue tumors (STTs) in adolescents are relatively rare, and their characteristics and behavior have not been well studied in this age group. The aim of this study was to describe the clinicopathologic patterns of STTs in adolescents aged 10-19 years according to the 2020 WHO classification.
Method: A 10-year retrospective cross-sectional study of 632 surgical samples from adolescents was conducted at a tertiary health facility to determine the frequency, histological patterns and characteristics of STTs in this population.
BMC Pediatr
January 2025
Department of Pediatrics II (Neonatology), Medical University of Innsbruck, Innsbruck, Austria.
Preterm infants are at high risk of developing respiratory distress syndrome (RDS). Mutations in the genes encoding for surfactant proteins B and C or the ATP-binding cassette transporter A3 (ABCA3) are rare but known to be associated with severe RDS and interstitial lung diseases. The exact prevalence of these mutations in the general population is difficult to determine, as they are usually studied in connection with clinical symptoms.
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