| Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn. | |
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MedLine Citation:
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PMID: 20027140 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Ingrid Brucknerova; Darina Behulova; Claudia Sebova; Vladimir Bzduch; Mojmir Mach; Michal Dubovicky; Eduard Ujhazy |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Neuro endocrinology letters Volume: 30 Suppl 1 ISSN: 0172-780X ISO Abbreviation: Neuro Endocrinol. Lett. Publication Date: 2009 |
Date Detail:
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Created Date: 2010-02-26 Completed Date: 2010-05-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8008373 Medline TA: Neuro Endocrinol Lett Country: Sweden |
Other Details:
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Languages: eng Pagination: 29-31 Citation Subset: IM |
Affiliation:
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1st Department of Paediatrics, Medical School, Comenius University, Bratislava, Slovakia. osmium@centrum.sk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Diagnosis, Differential Humans Hyperbilirubinemia, Neonatal / diagnosis*, etiology, urine* Infant, Newborn Male Mevalonate Kinase Deficiency / complications, diagnosis*, urine* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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