Mitochondrial Disease as a Cause of Neonatal Hemophagocytic Lymphohistiocytosis

• Main Authors: Kazumasa Fuwa (Author), Mitsuru Kubota (Author), Masami Kanno (Author), Hiroshi Miyabayashi (Author), Ken Kawabata (Author), Keiichi Kanno (Author), Masaki Shimizu (Author)
• Format: Book
• Published: Hindawi Limited, 2016-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Diagnosis of mitochondrial respiratory chain disorder (MRCD) is often difficult. Its pathogenesis is still unclear. We diagnosed MRCD by measuring the activity of the mitochondrial respiratory chain enzyme, and the patient also had hemophagocytic lymphohistiocytosis (HLH). A preterm female infant wa...