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Inherited factor V deficient neonate with galactosaemia.

Abstract：

OBJECTIVES:Reporting a case of inherited factor V deficiency and galactosemia. METHODS:A neonate was admitted with hematoma, jaundice, splenomegaly, diarrhea, anemia, abdominal ascites and bilateral cataracts that diagnosis of galactosaemia and factor V deficiency was established. RESULTS:Coinheritance of both coagulation disorder and metabolic disorder is very rare episode that was identified in a neonate. CONCLUSION:Our case indicates that in mild bleeding episodes of neonates that imitate of coagulation disorders should be considered promptly by pediatricians.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Mansouritorghabeh H,Sharifi-Hoseini MR,Shahroudian M

doi

10.1016/j.clinbiochem.2011.12.024

subject

Has Abstract

pub_date

2012-03-01 00:00:00

pages

356-8

issue

4-5

eissn

0009-9120

issn

1873-2933

pii

S0009-9120(12)00003-3

journal_volume

45

pub_type

杂志文章,评审

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