Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome

Autor: Marie-Louise von Linstow, Vibeke Rosenfeldt
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Zdroj: Case Reports in Pediatrics, Vol 2014 (2014)
Druh dokumentu: article
ISSN: 2090-6803
2090-6811
DOI: 10.1155/2014/936890
Popis: Hyper IgD syndrome (HIDS) is a rare metabolic autoinflammatory syndrome characterised by recurrent febrile episodes, accompanied by various inflammatory symptoms. We present a case of severe HIDS in a young girl, whose symptoms started in the neonatal period with hepatomegaly, hepatitis, thrombocytopenia, and conjugated hyperbilirubinemia. From the age of five months, the child had recurrent febrile episodes, stomatitis, adenitis, and persistent hepatomegaly. The diagnosis of HIDS was established when she was three years and eight months old. This case report suggests that HIDS should be included in the differential diagnosis of neonatal hepatitis and conjugated hyperbilirubinemia.
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