Ontology highlight
ABSTRACT:
SUBMITTER: Huffnagel IC
PROVIDER: S-EPMC5953898 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Huffnagel Irene C IC Redeker Egbert J W EJW Reneman Liesbeth L Vaz Frédéric M FM Ferdinandusse Sacha S Poll-The Bwee Tien BT
JIMD reports 20170729
We report the major diagnostic challenge in a female patient with signs and symptoms suggestive of an early-onset mitochondrial encephalopathy. Motor and cognitive development was severely delayed and brain MRI showed signal abnormalities in the putamen and caudate nuclei. Metabolic abnormalities included 3-methylglutaconic aciduria and elevated lactate levels in plasma and cerebrospinal fluid, but were transient. Whole exome sequencing at the age of 25 years finally revealed compound heterozygo ...[more]