Severe early-onset colitis revealing mevalonate kinase deficiency
M Levy, A Arion, D Berrebi, L Cuisset… - …, 2013 - publications.aap.org
Hyperimmunoglobulinemia D is the less severe form of mevalonate kinase deficiency (MKD)
caused by recessive inherited mutation in the mevalonate kinase gene.
Hyperimmunoglobulinemia D is characterized by febrile attacks, often associated with
transient digestive manifestations, such as abdominal pain, diarrhea, and vomiting. Here we
report for the first time 2 patients with MKD revealed by severe neonatal colitis. Both patients
had chronic bloody diarrhea and failure to thrive; 1 patient since the age of 1 month and the …
caused by recessive inherited mutation in the mevalonate kinase gene.
Hyperimmunoglobulinemia D is characterized by febrile attacks, often associated with
transient digestive manifestations, such as abdominal pain, diarrhea, and vomiting. Here we
report for the first time 2 patients with MKD revealed by severe neonatal colitis. Both patients
had chronic bloody diarrhea and failure to thrive; 1 patient since the age of 1 month and the …