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.

Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient / Lo Barco, Tommaso; Osanni, Elisa; Bordugo, Andrea; Rodella, Giulia; Iascone, Maria; Tenconi, Romano; Barone, Rita; Dalla Bernardina, Bernardo; Cantalupo, Gaetano. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 185:1(2021), pp. 219-222. [10.1002/ajmg.a.61916]

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

Lo Barco, Tommaso;
2021-01-01

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.
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Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient / Lo Barco, Tommaso; Osanni, Elisa; Bordugo, Andrea; Rodella, Giulia; Iascone, Maria; Tenconi, Romano; Barone, Rita; Dalla Bernardina, Bernardo; Cantalupo, Gaetano. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 185:1(2021), pp. 219-222. [10.1002/ajmg.a.61916]
Lo Barco, Tommaso; Osanni, Elisa; Bordugo, Andrea; Rodella, Giulia; Iascone, Maria; Tenconi, Romano; Barone, Rita; Dalla Bernardina, Bernardo; Cantalupo, Gaetano
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1290171
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