Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome

Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome

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 fe...

First patients with hyperimmunoglobulinemia D syndrome from the United States.

P46: Optic Neuritis as the First Manifestation of the Primary Antiphospholipid Antibody Syndrome

Optic neuritis is commonly associated with diseases such as Multiple Sclerosis, infections, taking special drugs, etc. but recently we have observed a patient that presented retro bulbar optic neuritis as a manifestation of antiphospholipid syndrome. A 35 y/o young woman with the history of chickenpox admitted to the Qhaem hospital (Mashhad, Iran) with the c/o progressive pain and blurred visio...

Neonatal erythroderma as a first manifestation of Menkes disease.

Menkes disease is an X-linked recessive lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations. The low serum copper and ceruloplasmin suggests the diagnosis, which is confirmed by mutation analysis of the ATP7A gene. We report an exceptional presentation of classic Menkes disease wit...

A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab

Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl...