Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn.
Neuro Endocrinol Lett
; 30 Suppl 1: 29-31, 2009.
Article
em En
| MEDLINE
| ID: mdl-20027140
ABSTRACT
OBJECTIVES:
To present clinical and laboratory findings in the case of a term newborn with conjugated hyperbilirubinaemia and to stress the importance of differential diagnosis.RESULTS:
A term newborn delivered by caesarean section (birth weight 2550 g, birth length 47 cm, value of Apgar score 9/10) with good direct adaptation had on the first day of life increased levels of conjugated bilirubin (23 micromol/l), unconjugated bilirubin (55 micromol/l) and C-reactive protein 39.4 g/l. The diagnosis of mevalonic aciduria was confirmed by urine analysis (mevalonolactone 393 micromol/mmol crea, normal range <2.0 micromol/mmol crea; mevalonic acid 40.5 micromol/mmol crea, normal range <0.04 micromol/mmol crea).CONCLUSION:
Mevalonic aciduria can be clinically distinguished based on symptoms of neurological involvement. It can also present itself with hepatosplenomegaly, lymphadenopathy, anaemia, leukocytosis, increased sedimentation rates and levels of C-reactive protein. In cases of conjugated hyperbilirubinaemia of unknown aetiology it is important to exclude mevalonic aciduria by urine investigation for organic acids.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hiperbilirrubinemia Neonatal
/
Deficiência de Mevalonato Quinase
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Neuro Endocrinol Lett
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Eslováquia