Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
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Neonatal hyperthyroidism is a rare disease that is seen in infants born to mothers with Graves' disease. Hepatic manifestation of neonatal hyperthyroidism is extremely rare. We describe a neonate with fulminant liver failure secondary to neonatal hyperthyroidism caused by maternal Graves's disease. The baby was admitted with low birth weight and hepatosplenomegaly. At day 2 of life, the baby was irritable and he developed respiratory distress and fulminant hepatic failure which required mechanical ventilation. All investigations of obstructive, infectious and metabolic causes of hepatic failure were negative. His hepatic dysfunction improvement was correlated with initiation carbimazole as anti-thyroid medication. The conjugated hyperbilirubinemia, liver enzymes and International Normalised Ratio (INR) were gradually improved with normalization by eight weeks. This case has been reported to illustrate lessons learnt for early identification of neonate with hyperthyroidism as potential cause of cholestasis is important, because delayed treatment of hyperthyroidism might lead to irreversible consequences such as mental retardation or even death due to liver failure.
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PMID:Neonatal Hyperthyroidism with Fulminant Liver Failure: A Case Report. 2857 Dec 23