Download PDF
Neuropediatrics 2024; 55(02): 148
DOI: 10.1055/s-0043-1778649
Videos and Images in Neuropediatrics

Cogan's Lid Twitch Sign in a Child with Congenital Myasthenia

Sujatha Manjunathan
1   Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
,
Pradeep Kumar Gunasekaran 
1   Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
,
Veena Laxmi
1   Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
,
Ashna Kumar
1   Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
,
Lokesh Saini 
1   Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
› Author Affiliations Funding None.
› Further Information
    Permissions and Reprints

An 8-year-old boy, born out of a nonconsanguineous marriage presented with droopy eyelids, bilateral squint since early infancy, and excessive fatigue and weakness on exertion for 3 years. Parents reported an increase in the droopiness of eyelids as the day progressed. Neurological examination revealed bilateral ptosis, complete external ophthalmoplegia, and Cogan's lid twitch sign ([Supplementary Video 1], available in online version), and fatigable weakness of limbs. He had improvement in ptosis on performing the ice pack test. Other cranial nerves, sensory, and cerebellar examinations were normal. A possibility of congenital myasthenic syndrome due to acetylcholine receptor deficiency was considered. Genetic testing revealed a pathogenic homozygous deletion (c.1327del;p.Glu443LysfsTer64) of exon 12 of the CHRNE gene. He was started on pyridostigmine, and on follow-up, he showed gradual improvement of ptosis.

Supplementary Video 1 Video showing eyelid twitches after the child returns from downgaze for 10 to 15 seconds to primary gaze, suggestive of Cogan's lid twitch sign.


Quality:

Cogan's lid twitch sign was first described by an American Ophthalmologist, David Glendenning Cogan in 1965.[1] This sign is seen in myasthenia gravis with 50 to 99% sensitivity and 75 to 100% specificity[2] and also reported in dorsal midbrain lesions and Miller Fisher syndrome.[3] [4] The sign is elicited by asking the patient to look downward for 10 to 15 seconds and to return to the primary gaze, and the sign is present when brief twitches of the affected eyelid are seen.[5]

Authors' Contribution

Study design, writing, editing, drafting: S.M., P.K.G., L.S.; intellectual content: L.S.; critical revision, final approval: S.M., P.K.G., V.L., A.K., L.S.




Publication History

Received: 19 October 2023

Accepted: 03 December 2023

Article published online:
16 January 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Cogan DG. Myasthenia gravis: a review of the disease and a description of lid twitch as a characteristic sign. Arch Ophthalmol 1965; 74: 217-221
    CrossrefPubMedGoogle Scholar
  • 2 Pietris J, Madike R, Lam A. et al. Cogan's lid twitch for myasthenia gravis: a systematic review. Semin Ophthalmol 2023; 38 (08) 727-736
    CrossrefPubMedGoogle Scholar
  • 3 Ragge NK, Hoyt WF. Midbrain myasthenia: fatigable ptosis, ‘lid twitch’ sign, and ophthalmoparesis from a dorsal midbrain glioma. Neurology 1992; 42 (04) 917-919
    CrossrefPubMedGoogle Scholar
  • 4 Anthony SA, Thurtell MJ, Leigh RJ. Miller Fisher syndrome mimicking ocular myasthenia gravis. Optom Vis Sci 2012; 89 (12) e118-e123
    CrossrefPubMedGoogle Scholar
  • 5 Singman EL, Matta NS, Silbert DI. Use of the Cogan lid twitch to identify myasthenia gravis. J Neuroophthalmol 2011; 31 (03) 239-240
    CrossrefPubMedGoogle Scholar