International Journal of

Rare Diseases and DisordersISSN: 2643-4571

Archive

 Open Access DOI:10.23937/2643-4571/1710047

Att. to Kabuki Syndrome (ORPHA: 2322)

Hermann Josef Mascher

Article Type: Letter to the Editor | First Published: July 24, 2022

Especially the metabolism around lysine seemed promising. I got from the parents of a Kabuki syndrome child a urine sample. The researcher who put me on this track was not able to deliver more urine samples within an appropriate time frame so our cooperation ended....

 Open Access DOI:10.23937/2643-4571/1710046

Kikuchi-Fujimoto Disease, A Case Report from Australia

Cecilia Gu and Sherman Gu

Article Type: Case Report | First Published: July 04, 2022

Kikuchi-Fujimoto disease (KFD), also known as Kikuchi’s disease or histiocytic necrotising lymphadenitis, is a rare and benign medical condition of unknown aetiology. It is often misdiagnosed as lymphoma or systemic lupus erythematosus (SLE), leading to inappropriate investigations and delayed treatment. It is thus important for clinicians to be cognizant of this condition when assessing patients with cervical lymphadenopathy....

Volume 5
Issue 2