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Continuous muscle fibre activity (Isaacs' syndrome) in infancy: a report of two cases
N H Thomas1, J Z Heckmatt, E Rodillo
1Department of Paediatrics, Hammersmith Hospital, London, U.K.
Insights
Continuous muscle fibre activity in infants is a severe condition leading to respiratory failure. Current treatments offer only temporary relief, indicating a need for better therapeutic strategies.
Area of Science:
- Neurology
- Pediatrics
- Clinical Electrophysiology
Background:
- Continuous muscle fibre activity (CMFA) is a rare neuromuscular disorder.
- Infantile CMFA presents with severe symptoms and a poor prognosis.
Purpose of the Study:
- To report two cases of severe infantile CMFA.
- To investigate the electrophysiological and pharmacological characteristics of infantile CMFA.
- To compare infantile CMFA with that seen in older individuals.
Main Methods:
- Case reporting of two affected infants.
- Electrophysiological studies to assess nerve and muscle function.
- Pharmacological trials with phenytoin and carbamazepine.
Main Results:
- Both infants experienced severe respiratory failure and died.
- Phenytoin and carbamazepine provided only transient symptomatic improvement.
- Evidence suggests the pathology is at the terminal nerve endings or motor end plate.
- Infantile CMFA appears more severe and treatment-resistant than in older patients.
Conclusions:
- Infantile CMFA is a severe, often fatal, condition.
- The neuromuscular junction is implicated as the primary site of the disorder.
- Current treatments are largely ineffective, highlighting the need for novel therapeutic approaches.
Abstract:
Two cases of continuous muscle fibre activity in infancy are reported. Both infants were severely affected and died from respiratory failure. Treatment with phenytoin and carbamazepine produced only temporary improvement. Electrophysiological and pharmacological evidence suggests that the site of the lesion in infancy, as in older patients, is in the terminal nerve endings or motor end plate. Continuous muscle fibre activity occurring in infancy seems to be more severe than in older children or adults and seems refractory to treatment.