Arch Dis Child Educ Pract Ed
January 2024
Oral thrush is a familiar presentation in both general practice and paediatrics, and is usually responsive to treatment in the community. Here, we present the diagnostic journey of a previously well boy aged 3 years who presented with treatment-resistant thrush and describe how 'unexpected' results led to eventual diagnosis and management. This intriguing case was managed jointly by district hospital general paediatric team and tertiary hospital specialist teams.
View Article and Find Full Text PDFBackground: Xq27.1 duplication encompassing SOX3 has been implicated in the aetiology of X-linked hypopituitarism associated with intellectual disability and neural tube defects. We describe the largest case series to date of 5 unrelated patients with SOX3 duplication with a variable clinical phenotype, including the smallest reported SOX3 duplication.
View Article and Find Full Text PDFAn 11-year-old child presented with poor school attendance, and signs and symptoms of severe anaemia. He was heavily covered in lice. He was investigated for other causes of anaemia.
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