An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria.
Acta Paediatr
; 91(6): 714-6, 2002.
Article
in En
| MEDLINE
| ID: mdl-12162608
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Amino Acid Metabolism, Inborn Errors
/
Ileal Diseases
/
Intestinal Obstruction
/
Jejunal Diseases
/
Mevalonic Acid
Type of study:
Diagnostic_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Acta Paediatr
Year:
2002
Document type:
Article
Affiliation country:
France