An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria.
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.


CONCLUSIONS
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.
Nimubona
L
L
Department of Neonatology, Caen University Hospital, France. lnimubonafr@yahoo.fr
Laloum
D
D
Rolland
M O
MO
Read
M H
MH
Guillois
B
B
Duhamel
J F
JF
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis; D018450:Disease Progression; D017809:Fatal Outcome; D006801:Humans; D007077:Ileal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D007223:Infant; D007415:Intestinal Obstruction / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D007579:Jejunal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D007813:Laparotomy; D008297:Male; D008798:Mevalonic Acid / Q000378:metabolism*; D012720:Severity of Illness Index
D008798:Mevalonic Acid