Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.
Adolescent
Adult
Brain
/ diagnostic imaging
Child
Congenital Disorders of Glycosylation
/ complications
Electroencephalography
Epilepsy
/ complications
Female
Humans
Magnetic Resonance Imaging
Male
Movement Disorders
/ complications
Muscle Hypotonia
/ diagnostic imaging
Mutation
/ genetics
Phenotype
Seizures
/ complications
Young Adult
MOGS
congenital disorders of glycosylation
long-term outcome
movement disorders
spasms
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
24
04
2020
revised:
16
08
2020
accepted:
26
09
2020
pubmed:
16
10
2020
medline:
30
6
2021
entrez:
15
10
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33058492
doi: 10.1002/ajmg.a.61916
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
219-222Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
de Praeter, C. M., Gerwig, G. J., Bause, E., Nuytinck, L. K., Vliegenthart, J. F. G., Breuer, W., … van Coster, R. N. (2000). A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. American Journal of Human Genetics, 66, 1744-1756.
Fiumara, A., Barone, R., del Campo, G., Striano, P., & Jaeken, J. (2016). Electroclinical features of early-onset epileptic encephalopathies in congenital disorders of glycosylation (CDGs). JIMD Reports, 27, 93-99.
Jaeken, J., & van den Heuvel, L. (2014). Congenital disorders of glycosilation. In Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases (pp. 484-511). Berlin, Heidelberg: Springer.
Jaeken, J., Lefeber, D. J., & Matthijs, G. (2020). SRD5A3 defective congenital disorder of glycosylation: Clinical utility gene card. European Journal of Human Genetics, 28, 1297-1300.
Kane, M. S., Davids, M., Adams, C., Wolfe, L. A., Cheung, H. W., Gropman, A., … Boerkoel, C. F. (2016). Mitotic intragenic recombination: A mechanism of survival for several congenital disorders of glycosylation. American Journal of Human Genetics, 98, 339-346.
Kim, Y.-M., Seo, G. H., Jung, E., Jang, J.-H., Kim, S. Z., & Lee, B. H. (2018). Characteristic dysmorphic features in congenital disorders of glycosylation type IIb. Journal of Human Genetics, 63, 383-386.
Li, M., Xu, Y., Wang, Y., Yang, X. A., & Jin, D. (2019). Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb. Journal of Human Genetics, 64, 265-268.
Mostile, G., Barone, R., Nicoletti, A., Rizzo, R., Martinelli, D., Sturiale, L., … Zappia, M. (2019). Hyperkinetic movement disorders in congenital disorders of glycosylation. European Journal of Neurology, 26(9), 1226-1234.
Neumann, L. M., von Moers, A., Kunze, J., Blankenstein, O., & Marquardt, T. (2003). Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation. European Journal of Pediatrics, 162, 710-713.
Peiwei Zhao, P. X., Luo, S., Huang, Y., Tan, L., Shao, J., & He, X. (2020). Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams. Neurogenetics, 21, 97-104.
Prietsch, V., Peters, V., Hackler, R., Jakobi, R., Assmann, B., Fang, J., … Hoffmann, G. F. (2002). A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. Journal of Inherited Metabolic Disease, 25, 126-130.
Rossi, M., Medina Escobar, A., Ameghino, L., & Merello, M. (2017). Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia. Journal of the Neurological Sciences, 378, 52-54.
Sadat, M. A., Moir, S., Chun, T.-W., Lusso, P., Kaplan, G., Wolfe, L., … Rosenzweig, S. D. (2014). Glycosylation, hypogammaglobulinemia, and resistance to viral infections. The New England Journal of Medicine, 370, 1615-1625.