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

Dawn Brianna Lammert; David Miedema; Josiree Ochotorena; Nienke Dosa; Kalliopi Petropoulou; Roger Robert Lebel; Ai Sakonju

doi:10.1002/ccr3.2426

Clinical Case Reports (Nov 2019)

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

Dawn Brianna Lammert,
David Miedema,
Josiree Ochotorena,
Nienke Dosa,
Kalliopi Petropoulou,
Roger Robert Lebel,
Ai Sakonju

Affiliations

Dawn Brianna Lammert: Department of Pediatrics Johns Hopkins Hospital Baltimore Maryland
David Miedema: United States Army Medical Corps Fort Drum New York
Josiree Ochotorena: Child and Adolescent Health Associates Samaritan Health Systems Watertown New York
Nienke Dosa: Center for Development, Behavior, and Genetics SUNY Upstate Medical University Syracuse New York
Kalliopi Petropoulou: Department of Radiology SUNY Upstate Medical University Syracuse New York
Roger Robert Lebel: Center for Development, Behavior, and Genetics SUNY Upstate Medical University Syracuse New York
Ai Sakonju: Department of Neurology SUNY Upstate Medical University Syracuse New York

DOI: https://doi.org/10.1002/ccr3.2426
Journal volume & issue: Vol. 7, no. 11
pp. 2087 – 2091

Abstract

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Abstract Myelin basic protein (MBP) contributes to peripheral and central nervous system myelin. Developmental myelinopathies exist on a clinical spectrum, but MBP 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.

Published in Clinical Case Reports

ISSN: 2050-0904 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Medicine (General)
Website: https://onlinelibrary.wiley.com/journal/20500904

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Abstract

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