UNLABELLED: This report describes a case of mevalonate kinase deficiency diagnosed at 1 mo of age. Soon after delivery, symptoms were suggestive of congenital infection. An intestinal occlusion occurred towards the age of 8 mo. CONCLUSION: Mevalonate kinase deficiency has variable clinical and biological signs which can lead to a delay in diagnosis. This is the first reported occurrence of bowel obstruction in this disease and the resemblance to a congenital infection in the neonatal period must be emphasized.
UNLABELLED: This report describes a case of mevalonate kinase deficiency diagnosed at 1 mo of age. Soon after delivery, symptoms were suggestive of congenital infection. An intestinal occlusion occurred towards the age of 8 mo. CONCLUSION:Mevalonate kinase deficiency has variable clinical and biological signs which can lead to a delay in diagnosis. This is the first reported occurrence of bowel obstruction in this disease and the resemblance to a congenital infection in the neonatal period must be emphasized.
Authors: Anna Simon; Joost P H Drenth; Dietrich Matern; Eric S Goetzman; Elizabeth J Hager; K Michael Gibson Journal: Mol Genet Metab Date: 2013-01-15 Impact factor: 4.797
Authors: Jodie Ouahed; Elizabeth Spencer; Daniel Kotlarz; Dror S Shouval; Matthew Kowalik; Kaiyue Peng; Michael Field; Leslie Grushkin-Lerner; Sung-Yun Pai; Athos Bousvaros; Judy Cho; Carmen Argmann; Eric Schadt; Dermot P B Mcgovern; Michal Mokry; Edward Nieuwenhuis; Hans Clevers; Fiona Powrie; Holm Uhlig; Christoph Klein; Aleixo Muise; Marla Dubinsky; Scott B Snapper Journal: Inflamm Bowel Dis Date: 2020-05-12 Impact factor: 5.325