Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.
Tommaso Lo BarcoElisa OsanniAndrea BordugoGiulia RodellaMaria IasconeRomano TenconiRita BaroneBernardo Dalla BernardinaGaetano CantalupoPublished in: American journal of medical genetics. Part A (2020)
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.
Keyphrases
- drug resistant
- end stage renal disease
- multidrug resistant
- case report
- multiple sclerosis
- resting state
- chronic kidney disease
- acinetobacter baumannii
- magnetic resonance imaging
- functional connectivity
- newly diagnosed
- peritoneal dialysis
- high frequency
- working memory
- early onset
- prognostic factors
- deep brain stimulation
- magnetic resonance
- pregnant women
- cystic fibrosis
- patient reported outcomes
- cerebral ischemia
- pregnancy outcomes
- diffusion weighted imaging