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Case 17 - Facial Somatic Mosaicism

from Section 2 - Headache and Pain

Published online by Cambridge University Press:  27 July 2023

Mark McCarron
Affiliation:
Ulster University
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Summary

A 48-year-old right-handed man attended a neurology clinic. He had a long history of migraine with aura, hemiplegic migraine and glaucoma. He had always had poor vision from his left eye, which deteriorated further with a retinal detachment. When young, he had left buphthalmos (an enlarged eye – often a symptom of childhood glaucoma).

Type
Chapter
Information
55 Cases in Neurology
Case Histories and Patient Perspectives
, pp. 113 - 120
Publisher: Cambridge University Press
Print publication year: 2023

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References

Ashina, M, Terwindt, GM, Al-Mahdi Al-Karagholi, M et al. Migraine: disease characterisation, biomarkers, and precision medicine. Lancet. 2021;397:1496–504.CrossRefGoogle ScholarPubMed
Sudarsanam, A, Ardern-Holmes, SL. Sturge–Weber syndrome: from the past to the present. Eur J Paediatr Neurol. 2014;18(3):257–66.CrossRefGoogle ScholarPubMed
Siri, L, Giordano, L, Accorsi, P et al. Clinical features of Sturge–Weber syndrome without facial nevus: five novel cases. Eur J Paediatr Neurol. 2013;17(1):91–6.CrossRefGoogle ScholarPubMed
Shirley, MD, Tang, H, Gallione, CJ et al. Sturge–Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368(21):1971–9.CrossRefGoogle ScholarPubMed

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