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S C Dinescu1, P L Ciurea1,2, F A Vreju1,2
1Department of Rheumatology, Emergency County Hospital Craiova, Romania.
Abstract:
Currently incurable, Charcot-Marie-Tooth (CMT) disease is the most commonly inherited neurological disorder, which affects a small percentage of the population. The most common cause of CMT is the duplication of a region on the short arm of chromosome 17, which includes the gene PMP22. We report a thirty-seven-year-old man with CMT disease having sleep, memory and attention disorders characterized by brief retrograde amnesia at early age. The patient has no genetic disease in the family, but was diagnosed with diabetes mellitus, which emphasizes the sensory loss and prolonged infections. Diabetes mellitus emphasizes the sensory symptomatology and predisposes to the development of infections with delayed healing.
Insights
Charcot-Marie-Tooth (CMT) disease, a common inherited neurological disorder, can manifest with cognitive issues like memory loss. This case study highlights a patient with CMT experiencing amnesia, sleep, and attention deficits.
Area of Science:
- Neurology
- Genetics
Background:
- Charcot-Marie-Tooth (CMT) is the most prevalent inherited neurological disorder, currently without a cure.
- The primary genetic cause of CMT is a PMP22 gene duplication on chromosome 17.
- CMT affects a small but significant portion of the population.
Purpose of the Study:
- To report a case of a 37-year-old male diagnosed with Charcot-Marie-Tooth disease.
- To describe the patient's co-occurring sleep, memory, and attention disorders, including early-onset retrograde amnesia.
- To explore potential links between CMT, diabetes mellitus, and associated complications.
Main Methods:
- Case report of a 37-year-old male patient.
- Clinical assessment of neurological and cognitive symptoms.
- Review of patient's medical history, including diagnosis of diabetes mellitus.
Main Results:
- The patient presented with Charcot-Marie-Tooth disease.
- He exhibited sleep disturbances, memory deficits, and attention problems, notably early retrograde amnesia.
- The patient had a history of diabetes mellitus, which correlated with sensory loss and prolonged infections.
Conclusions:
- Charcot-Marie-Tooth disease can present with significant cognitive and sleep-related symptoms beyond typical motor and sensory deficits.
- Diabetes mellitus may exacerbate sensory symptoms and increase susceptibility to infections in CMT patients.
- This case underscores the complex and multifaceted nature of CMT and its potential systemic implications.
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