1.MELASand ITS SISTERS Prof. Dr. Saad S Al Ani Senior Pediatric Consultant Head of Pediatric Department Khorfakkan HospitalSharjah ,UAE [email_address]2. Case presentation:1…

Slide 1 Does this ill child have a metabolic disease? ► General Intro ► Disease Presentation & Investigation  Acute Neonatal  Recurrent Encephalopathy  Hyperammonaemia…

Slide 1 Corneal Disease and Mitochondrial Cytopathy: Report of Two Unrelated Individuals Jocelyn Kim, BA, Anagha Medsinge, MD, Bharesh Chauhan, PhD, Cara Wiest, BA, Will…

an incidence of 1:40,000 live births. It presents wide clinical, biochemical, and genetic heterogeneity, but with homogenous neuropatoradiological alterations. There is no

2672 Pathology - Sarnat152 A decade ago, it was unusual for pathologists to receive a muscle biopsy for the expressed diagnosis of mitochondrial disease. Today, as many as

Mitochondrial Cytopathy, Mitochondrial Myopathy,Disease name: Mitochondrial Cytopathy, Mitochondrial Myopathy, Mitochondrial Encephalomyopathy ICD 10: G731.81 Synonyms: Mitochondrial