Central and Peripheral Dysmyelination in a 3-year-old Girl with Ring Chromosome 18

Overview

Journal Clin Case Rep

Date 2019 Dec 3

PMID 31788257

Citations 3

Authors

Dawn Brianna Lammert

David Miedema

Josiree Ochotorena

Nienke Dosa

Kalliopi Petropoulou

Roger Robert Lebel

Ai Sakonju

Affiliations

Soon will be listed here.

Abstract

Myelin basic protein (MBP) contributes to peripheral and central nervous system myelin. Developmental myelinopathies exist on a clinical spectrum, but is not included on leukodystrophy or CMT gene panels. This ring chromosome 18 case presents serial MRI and EMG/NCS, shedding light on the early clinical course of the disorder.

Citing Articles

Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms.

Matyskova D, Richtrova M, Novotna A, Koskova O Orphanet J Rare Dis. 2024; 19(1):478.

PMID: 39707539 PMC: 11662835. DOI: 10.1186/s13023-024-03505-2.

Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications.

Montanari A, Caforio P, Paparella A, Casieri P, Nuzzi M, Antonucci M Mol Cytogenet. 2024; 17(1):31.

PMID: 39639321 PMC: 11619688. DOI: 10.1186/s13039-024-00700-5.

Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18.

Lammert D, Miedema D, Ochotorena J, Dosa N, Petropoulou K, Lebel R Clin Case Rep. 2019; 7(11):2087-2091.

PMID: 31788257 PMC: 6878035. DOI: 10.1002/ccr3.2426.

References

Tassano E, Severino M, Rosina S, Papa R, Tortora D, Gimelli G . Interstitial 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature. Mol Cytogenet. 2016; 9:78. PMC: 5057431. DOI: 10.1186/s13039-016-0285-1. View

Gay C, Hardies L, Rauch R, Lancaster J, Plaetke R, DuPont B . Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency. Am J Med Genet. 1997; 74(4):422-31. DOI: 10.1002/(sici)1096-8628(19970725)74:4<422::aid-ajmg14>3.0.co;2-k. View

Readhead C, Hood L . The dysmyelinating mouse mutations shiverer (shi) and myelin deficient (shimld). Behav Genet. 1990; 20(2):213-34. DOI: 10.1007/BF01067791. View

Tosic M, Rakic S, Zecevic N . Identification of Golli and myelin basic proteins in human brain during early development. Glia. 2002; 37(3):219-28. DOI: 10.1002/glia.10028. View

Kaye E, Doll R, Natowicz M, SMITH F . Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies. Ann Neurol. 1994; 36(6):916-9. DOI: 10.1002/ana.410360618. View

Girirajan S, Rosenfeld J, Coe B, Parikh S, Friedman N, Goldstein A . Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med. 2012; 367(14):1321-31. PMC: 3494411. DOI: 10.1056/NEJMoa1200395. View

Takanashi J, Nitta N, Iwasaki N, Saito S, Tanaka R, Barkovich A . Neurochemistry in shiverer mouse depicted on MR spectroscopy. J Magn Reson Imaging. 2013; 39(6):1550-7. DOI: 10.1002/jmri.24306. View

Brodtkorb E, Torbergsen T, Nakken K, Andersen K, Gimse R, Sjaastad O . Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome?. Acta Neurol Scand. 1994; 90(4):232-40. DOI: 10.1111/j.1600-0404.1994.tb02713.x. View

Alfonsi E, Clerici A, Costi I, Berardinelli A, Rognone F, Savasta S . Pelizaeus-Merzbacher disease: electrophysiological study of two sibs with the classic form and of their relatives. Funct Neurol. 2002; 16(4):337-45. View

10.

Cody J, Hasi M, Soileau B, Heard P, Carter E, Sebold C . Establishing a reference group for distal 18q-: clinical description and molecular basis. Hum Genet. 2013; 133(2):199-209. PMC: 3947160. DOI: 10.1007/s00439-013-1364-6. View

11.

Motley W, Palaima P, Yum S, Gonzalez M, Tao F, Wanschitz J . De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain. 2016; 139(Pt 6):1649-56. PMC: 5022672. DOI: 10.1093/brain/aww055. View

12.

Vogel H, Urich H, Horoupian D, Wertelecki W . The brain in the 18q-syndrome. Dev Med Child Neurol. 1990; 32(8):732-7. DOI: 10.1111/j.1469-8749.1990.tb08435.x. View

13.

Lyubetska H, Zhang L, Kong J, Vrontakis M . An elevated level of circulating galanin promotes developmental expression of myelin basic protein in the mouse brain. Neuroscience. 2014; 284:581-589. DOI: 10.1016/j.neuroscience.2014.10.031. View

14.

Vaurs-Barriere C, Bonnet-Dupeyron M, Combes P, Gauthier-Barichard F, Reveles X, Schiffmann R . Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. Ann Hum Genet. 2006; 70(Pt 1):66-77. DOI: 10.1111/j.1529-8817.2005.00208.x. View

15.

Lang R, Gundlach A, Holmes F, Hobson S, Wynick D, Hokfelt T . Physiology, signaling, and pharmacology of galanin peptides and receptors: three decades of emerging diversity. Pharmacol Rev. 2014; 67(1):118-75. DOI: 10.1124/pr.112.006536. View

16.

Loevner L, SHAPIRO R, Grossman R, Overhauser J, Kamholz J . White matter changes associated with deletions of the long arm of chromosome 18 (18q- syndrome): a dysmyelinating disorder?. AJNR Am J Neuroradiol. 1996; 17(10):1843-8. PMC: 8337541. View

17.

Tazir M, Hamadouche T, Nouioua S, Mathis S, Vallat J . Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update. J Neurol Sci. 2014; 347(1-2):14-22. DOI: 10.1016/j.jns.2014.10.013. View

18.

Anzai M, Arai-Ichinoi N, Takezawa Y, Endo W, Inui T, Sato R . Patchy white matter hyperintensity in ring chromosome 18 syndrome. Pediatr Int. 2016; 58(9):919-22. DOI: 10.1111/ped.13043. View

19.

Beri S, Hussain N, Gosalakkal J . Connatal Pelizaeus-Merzbacher disease: a great masquerader. Indian J Pediatr. 2010; 77(3):338. DOI: 10.1007/s12098-009-0303-y. View

20.

Tanaka R, Iwasaki N, Hayashi M, Nakayama J, Ohto T, Takahashi M . Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination. Brain Dev. 2011; 34(3):234-7. DOI: 10.1016/j.braindev.2011.05.008. View