NDLI: A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation

Content Provider	Springer Nature : BioMed Central
Author	Xu, Xin Lu, Fen Du, Senjie Zhang, Li
Abstract	Background Charcot-Marie-Tooth disease (CMT) is a group of single-gene hereditary diseases of peripheral nerve with high clinical variability and genetic heterogeneity. The typical clinical manifestations include progressive muscle weakness and muscle atrophy in the distal extremities, accompanied by disappearance of tendon reflexes and distal sensory disturbances. CMT2A2 (OMIM: 609260) is caused by the mutation of MFN2 (OMIM: 608507), is the most common type of axonal pattern. Although a small number of patients with X-linked CMT1 (CMT1X) present with central nervous system involvement, including reversible white matter lesions, it is rarely in CMT2A2. Case presentation A 3-year and 5-month-old girl had experienced motor lag, muscle tension, and abnormal gait for over a year. A reexamination of cranial MRI revealed an anterior enlargement of the abnormal signal range in the lateral ventricles and bilateral frontal lobes. And the whole exon sequencing showed that this girl carried a heterozygous missense mutation c.314C > T of MNF2 gene, inherited from her mother. Conclusions In this study, we retrospectively analyzed the clinical and molecular genetic findings of a child with Charcot-Marie-Tooth disease A2 with central nervous system involvement as the initial presentation, and explored its pathogenic mechanism.
Related Links	https://bmcpediatr.biomedcentral.com/counter/pdf/10.1186/s12887-023-04441-z.pdf
Ending Page	7
Page Count	7
Starting Page	1
File Format	HTM / HTML
ISSN	14712431
DOI	10.1186/s12887-023-04441-z
Journal	BMC Pediatrics
Issue Number	1
Volume Number	24
Language	English
Publisher	BioMed Central
Publisher Date	2024-01-05
Access Restriction	Open
Subject Keyword	Pediatrics Internal Medicine Charcot-Marie-Tooth disease type 2A2 MFN2 Cerebral nervous system
Content Type	Text
Resource Type	Case study
Subject	Pediatrics, Perinatology and Child Health
Journal Impact Factor	2/2023
5-Year Journal Impact Factor	2.4/2023

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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