RESUMO
Respiratory syncytial virus (RSV) is the most common cause of lower respiratory tract infections in children. In most previously healthy infants, RSV infection is self-limited and resolves without complications. The risk of bacteremia is low in young febrile infants with RSV infection. Herein, we report two previously healthy infants with severe RSV infection who had concurrent Klebsiella bacteremia.
RESUMO
Congenital hyperinsulinism (CHI) is a rare cause of severe hypoglycemia in newborns. In focal CHI, usually one activity peak in fluorine-18-L-dihydroxyphenylalanine (18F-DOPA) positron emission tomography-magnetic resonance imaging (PET-MRI) indicates one focal lesion and its resection results in cure of the child. We present the case of a 5-month-old girl with CHI. Mutational screening of genes involved in CHI revealed a heterozygous pathogenic variant in the ABCC8 gene, which was not detectable in the parents. 18F-DOPA PET-MRI revealed 2 distinct activity peaks nearby in the pancreatic body and neck. Surgical resection of the tissue areas representing both activity peaks resulted in long-lasting normoglycemia that was proven by a fasting test. Molecular analysis of tissue samples from various sites provided evidence that a single second genetic hit in a pancreatic precursor cell was responsible for the atypical extended pancreatic lesion. There was a close correlation in the resected areas of PET-MRI activity with focal histopathology and frequency of the mutant allele (loss of heterozygosity) in the tissue. Focal lesions can be very heterogenous. The resection of the most affected areas as indicated by imaging, histopathology, and genetics could result in complete cure.
