Identification of Compound Heterozygous DPM1 Variants in a Pediatric Patient With Congenital Disorder of Glycosylation Type Ie

Congenital disorders of glycosylation (CDG) constitute a group of rare genetic metabolic diseases caused by defects in the synthesis and modification of oligosaccharides. CDG-Ie is a rare subtype caused by mutations in the DPM1 gene. We describe a female patient who presented with ocular abnormalities, motor retardation, hypotonia, hepatic dysfunction, elevated creatine kinase, abnormal electroencephalogram (EEG), and abnormal cranial magnetic resonance imaging (MRI) findings, which have been reported in previous cases.