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Comment
. 2023 Mar;37(4):700-704.
doi: 10.1038/s41433-022-02030-5. Epub 2022 Mar 25.

Demographics and ocular findings in children with myasthenia

Natalia Arruti  1 , Pinki Munot  2 , Richard Bowman  3   4
Affiliations
Comment

Demographics and ocular findings in children with myasthenia

Natalia Arruti et al. Eye (Lond). 2023 Mar.

Abstract

Purpose: To report the demographics and ocular features of myasthenia gravis in the paediatric population.

Methods: Retrospective revision of the medical records of all patients younger than 18 years of age with myasthenia who were examined at Great Ormond Street Hospital between the 1st of January 2016 and 1st of January 2020.

Results: A total of 49 children were assessed during the 4-year period. There was a female predominance, with only 12 males (24.5%). 26 children (53.1%) had juvenile myasthenia gravis (JMG) while 18 (36.7%) had congenital myasthenic syndrome (CMS). 4 patients (8.2%) were diagnosed with probable CMS while 1 (2.0%) was classified as probable JMG. The mean age at diagnosis was 5.3 years old (SD 3.9) whereas the mean age at onset was 3.7 years old (SD 3.9). Almost half of the children (49%) had ocular involvement, present in 19 patients in the JMG group (70.4%) and in 5 children (22.7%) in the CMS cohort. Ptosis was the most common sign at presentation, seen in 32 patients (65.3%). Nine patients (18.4%) presented with a squint and another 7 (14.3%) developed it later on. Anti-acetylcholine receptor antibodies were positive in 18 of the 26 JMG patients (69.2%) whereas identifiable mutations were found in the 18 CMS patients (100%). Pyridostigmine was the drug of choice in our series, used by thirty-three patients (67.3%). The majority of the patients (73.5%) improved after treatment.

Conclusions: JMG was the most common type of paediatric MG, specifically the ocular form. Ptosis was the most common sign at presentation. The majority of the patients improved after medical treatment.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Clustered Bar showing immunologic and electrophysiologic testing of the study population.
EMG = electromyography. MuSK antibodies = antibodies against muscle-specific kinase. AchR antibodies = anti-acetylcholine receptors antibodies.
Fig. 2
Fig. 2
3D Clustered columns showing outcomes of the study population.
See this image and copyright information in PMC

Comment on

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