Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome

Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group.

BACKGROUND AND DESIGN The hyperimmunoglobulinemia D (hyper-IgD) syndrome is characterized by recurrent febrile attacks with abdominal distress, headache, and arthralgias. Physical examination reveals cervical lymphadenopathy in most cases and, sometimes, splenomegaly. Skin lesions have been observed in isolated cases during attacks. We summarize the features of skin lesions and the histopatholo...

Hypoparathyroidism as the First Mani-Festation of Kearns-Sayre Syndrome: A Case Report

Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms of this condition include retinitis pigmentosa, chronic progressive external ophthalmoplegia, and one or more of the following factors: cardiac conduction system diseases, cerebellar ataxia, and cerebrospinal fluid (CSF) with protein content above 100 mg/dL. The nature of thi...

First patients with hyperimmunoglobulinemia D syndrome from the United States.

Application of ursodeoxycholic acid in hepatobiliary scintigraphy for neonatal hyperbilirubinemia: Comparison with phenobarbital

  Introduction: Early differentiation of biliary atresia from neonatal hepatitis is of utmost importance, since on time surgery of biliary atresia significantly improves the outcome. Hepatobiliary scintigraphy is an integral part of diagnosis work-up of these patients; however its specificity for diagnosis of biliary atresia is suboptimal. In this study we evaluated t...

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...