Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient

Am J Med Genet A. 2021 Jan;185(1):219-222. doi: 10.1002/ajmg.a.61916. Epub 2020 Oct 15.

Abstract

Congenital glycosylation disorders (CDG) are inherited metabolic diseases due to defective glycoprotein and glycolipid glycan assembly and attachment. MOGS-CDG is a rare disorder with seven patients from five families reported worldwide. We report on a 19-year-old girl with MOGS-CDG. At birth she presented facial dysmorphism, marked hypotonia, and drug-resistant tonic seizures. In the following months, her motility was strongly limited by dystonia, with forced posture of the head and of both hands. She showed a peculiar hyperkinetic movement disorder with a rhythmic and repetitive pattern repeatedly documented on EEG-polygraphy recordings. Brain MRI showed progressive cortical and subcortical atrophy. Epileptic spasms appeared in first months and ceased by the age of 7 years, while tonic seizures were still present at last assessment (19 years). We report the oldest-known MOGS-CDG patient and broaden the neurological phenotype of this CDG.

Keywords: MOGS; congenital disorders of glycosylation; long-term outcome; movement disorders; spasms.

Publication types

  • Case Reports