Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study.
Orphanet J Rare Dis
; 19(1): 217, 2024 May 24.
Article
em En
| MEDLINE
| ID: mdl-38790028
ABSTRACT
BACKGROUND:
To investigate the peripheral nervous system involvement in S sialidosis with typical features of myoclonus, seizure, and giant waves in somatosensory evoked potentials suggesting hyperexcitability in the central nervous system.METHODS:
The clinical presentation of patients with genetically confirmed sialidosis was recorded. Neurophysiological studies, including nerve conduction studies (NCSs), F-wave studies, and needle electromyography (EMG), were performed on these patients.RESULTS:
Six patients (M/F 24) were recruited. In addition to the classical presentation, intermittent painful paresthesia was noted in four patients, and three of whom reported it as the earliest symptom. In the NCSs, one patient had reduced compound muscle action potential amplitudes in the right ulnar nerve, while another patient had prolonged distal motor latency in the bilateral tibial and peroneal nerves. Prolonged F-wave latency (83.3%), repeater F-waves (50%), and neurogenic polyphasic waves in EMG (in 2 out of 3 examined patients) were also noted. Interestingly, a very late response was noted in the F-wave study of all patients, probably indicating lesions involving the proximal peripheral nerve or spinal cord.CONCLUSION:
In addition to the central nervous system, the peripheral nervous system is also involved in sialidosis, with corresponding clinical symptoms. Further study on these phenomena is indicated.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Eletromiografia
/
Mucolipidoses
Limite:
Adolescent
/
Adult
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Child
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Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Orphanet J Rare Dis
/
Orphanet j. rare dis
/
Orphanet journal of rare diseases
Assunto da revista:
MEDICINA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Taiwan