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

• DOI: 10.1002/ccr3.2426
• Publication Date: 2019-09-28T03:24:11Z
• Authors: Dawn Brianna Lammert; David Miedema; Josiree Ochotorena; Nienke Dosa; Kalliopi Petropoulou; Roger Robert Lebel; Ai Sakonju
• Keywords: Medicine (General); 18q deletion; R; Case Reports; myelin basic protein; 3. Good health; myelin; 03 medical and health sciences; R5-920; 0302 clinical medicine; ring chromosome 18; Medicine

AbstractMyelin 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.