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. 1. Background Hyper IgD syndrome (HIDS) is a rare metabolic autoinflammatory syndrome characterised by recurrent febrile episodes, accompanied by lymphadenopathy, exanthema, joint pain, abdominal pain, diarrhoea, vomiting, headache, hepatomegaly, myalgia, conjunctivitis, and oral ulcers [1, 2]. HIDS is also termed mevalonate kinase deficiency, as mutations in the mevalonate kinase (MVK) gene are responsible for the autosomal recessive pattern of inheritance seen in HIDS [3, 4]. MVK deficiency is present both in HIDS and in the more severe phenotype mevalonate aciduria (MA). MA is characterized by recurrent febrile crises, severe mental retardation, ataxia, failure to thrive, cataracts, and dysmorphic features. These children often die in early childhood [5]. Only two cases of HIDS, both from Finland, have been described in Scandinavian children [6]. We here present a case of HIDS in a girl, in whom typical symptoms were registered from the age of five months. However, severe hepatitis and thrombocytopenia in the neonatal period might have been the first manifestation of HIDS. 2. Case Presentation The girl was born in Tórshavn, Faeroe Islands. The mother was a primipara and previously healthy with an uneventful pregnancy. The parents were nonconsanguineous, the mother being of Columbian and the father of Faroese ancestry. Spontaneous labour occurred in gestational age 38 weeks. Due to slow progress, green amniotic fluid, polyhydramnion, and a pathological cardiotocography, an acute caesarean section was performed. Apgar scores were 3, 6, and 9 in 1, 5, and 10 minutes, respectively. Birth weight was 3,510？g. K-vitamin was administered. The mother remained afebrile during and after delivery. The child had a normal physical examination, except from a petechial rash. She was suspected for sepsis and started on ampicillin and gentamycin. Abdominal ultrasound (US) showed an enlarged
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