Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18
Dawn Brianna Lammert1,2, David Miedema3, Josiree Ochotorena4
1Department of Pediatrics Johns Hopkins Hospital Baltimore Maryland.
Clinical Case Reports
|December 3, 2019
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.
Insights
Myelin basic protein (MBP) is crucial for nervous system myelin. This study details a rare ring chromosome 18 case, offering insights into early myelinopathy progression.
Area of Science:
- Neuroscience
- Genetics
- Clinical Neurology
Background:
- Myelin basic protein (MBP) is essential for peripheral and central nervous system myelin formation and maintenance.
- Developmental myelinopathies represent a spectrum of disorders affecting myelin, but MBP's role is often overlooked in genetic diagnostics.
- Current genetic testing panels for leukodystrophies and Charcot-Marie-Tooth disease do not typically include MBP.
Observation:
- A case of ring chromosome 18 is presented, a rare chromosomal abnormality.
- Serial magnetic resonance imaging (MRI) and electrodiagnostic studies (electromyography/nerve conduction studies, EMG/NCS) were performed.
- The study focuses on the early clinical presentation and progression of the disorder.
Findings:
- The ring chromosome 18 case provides a unique model to study the impact of genetic anomalies on myelin development.
- Serial MRI and EMG/NCS data illustrate the early clinical course and neurological impact of this specific myelinopathy.
- This case highlights the potential contribution of MBP dysfunction to developmental myelin disorders.
Implications:
- Understanding the clinical spectrum of myelinopathies, including those associated with rare chromosomal abnormalities, is critical for accurate diagnosis.
- The findings suggest that MBP's role in myelin disorders warrants further investigation and potential inclusion in broader genetic screening.
- This case contributes valuable data for understanding rare genetic causes of leukodystrophy and peripheral neuropathies.
