Publications by authors named "Valentina Ragnoni"
Article Synopsis
- Moyamoya disease can cause strokes in children and also lead to problems in areas outside the brain, including the kidneys, where it can result in narrowed arteries and renovascular hypertension.
- A case involving an 18-month-old boy revealed he suffered from severe dehydration and a peculiar syndrome involving low sodium and high blood pressure linked to his kidney issues and moyamoya disease.
- After initial treatments failed, the boy underwent surgical procedures that significantly improved both his neurological condition and kidney function, marking a unique instance of how moyamoya disease can manifest atypically with hypertension and renal complications.
Glycerol-3-phosphate dehydrogenase 1 deficiency is a rare autosomal recessive disorder caused by mutations in the gene (GPD1; OMIM*138420). Very few cases are reported in literature. It usually manifests in early infancy with transient hypertriglyceridemia, hepatomegaly, steatosis, and fibrosis.
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