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

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.

• Authors: Tommaso Lo Barco, Elisa Osanni, Andrea Bordugo, Giulia Rodella, Maria Iascone, Romano Tenconi, Rita Barone, Bernardo Dalla Bernardina, Gaetano Cantalupo
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 185 Issue 1 Pg. 219-222 (01 2021) ISSN: 1552-4833 [Electronic] United States
• PMID: 33058492 (Publication Type: Case Reports)
• Copyright: © 2020 Wiley Periodicals LLC.

Topics

• Adolescent
• Adult
• Brain (diagnostic imaging, pathology)
• Child
• Congenital Disorders of Glycosylation (complications, diagnosis, diagnostic imaging, pathology)
• Electroencephalography
• Epilepsy (complications, diagnosis, diagnostic imaging, pathology)
• Female
• Humans
• Magnetic Resonance Imaging
• Male
• Movement Disorders (complications, diagnosis, pathology)
• Muscle Hypotonia (diagnostic imaging, genetics, pathology)
• Mutation (genetics)
• Phenotype
• Seizures (complications, diagnosis, diagnostic imaging, pathology)
• Young Adult