Clinical biochemistry · 2012
Inherited factor V deficient neonate with galactosaemia.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Mansouritorghabeh Hassan, Sharifi-Hoseini Mohamad Reza, Shahroudian Masoud
Аннотация
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.
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.