Charcot-Marie-Tooth disease type 2 caused by homozygous MME gene mutation superimposed by chronic inflammatory demyelinating polyneuropathy
| Autor: | Michiaki Koga, J. Ogasawara, Hiroshi Takashima, Miwako Fujisawa, Masatoshi Omoto, Takashi Kanda, Yasuteru Sano |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Weakness Pathology medicine.medical_specialty business.industry Chronic inflammatory demyelinating polyneuropathy Inflammation Gene mutation medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure Immune system Peripheral nervous system Edema Medicine Neurology (clinical) medicine.symptom business Neprilysin 030217 neurology & neurosurgery |
| Zdroj: | Rinsho Shinkeigaku. 57:515-520 |
| ISSN: | 1882-0654 0009-918X |
| DOI: | 10.5692/clinicalneurol.cn-001036 |
| Popis: | We report a 59-year-old Japanese male who developed gradually worsening weakness and numbness of distal four extremities since age 50. His parents were first cousins, and blood and cerebral spinal examinations were unremarkable. Homozygous mutation of MME gene was detected and thus he was diagnosed as autosomal-recessive Charcot-Marie-Tooth disease 2T (AR-CMT2T); however, electrophysiological examinations revealed scattered demyelinative changes including elongated terminal latency in several peripheral nerve trunks. Sural nerve biopsy showed endoneurial edema and a lot of thinly myelinated nerve fibers with uneven distribution of remnant myelinated fibers within and between fascicles. Immunoglobulin treatment was initiated considering the possibility of superimposed inflammation and demyelination, and immediate clinical as well as electrophysiological improvements were noted. Our findings indicate that AR-CMT2T caused by MME mutation predisposes to a superimposed inflammatory demyelinating neuropathy. This is the first report which documented the co-existence of CMT2 and chronic inflammatory demyelinating polyneuropathy (CIDP); however, in the peripheral nervous system, neprilysin, a product of MME gene, is more abundant in myelin sheath than in axonal component. The fragility of myelin sheath due to mutated neprilysin may trigger the detrimental immune response against peripheral myelin in this patient. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|