Bilateral dendriform ulcer leading to an early diagnosis of tyrosinemia type 2.
Journal
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
ISSN: 1528-3933
Titre abrégé: J AAPOS
Pays: United States
ID NLM: 9710011
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
18
09
2019
revised:
16
12
2019
accepted:
21
12
2019
pubmed:
6
2
2020
medline:
27
7
2021
entrez:
5
2
2020
Statut:
ppublish
Résumé
A 2-year-old girl with a 1-year history of photophobia presented with bilateral eye redness and was found to have dendriform corneal ulcers, which were initially managed with acyclovir ointment, without improvement. Clinical inspection revealed small cutaneous lesions on the fingers and toes. The association of pseudodendritic keratitis with palmo-plantar hyperkeratotic lesions was suspicious for tyrosinemia type 2, which was confirmed by high levels of plasmatic tyrosine (2134 μmol/L). A protein-restricted diet led to the complete resolution of the corneal and cutaneous lesions and avoided the potential toxicity of tyrosine on central nervous system.
Identifiants
pubmed: 32018000
pii: S1091-8531(20)30023-9
doi: 10.1016/j.jaapos.2019.12.007
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
120-122Informations de copyright
Copyright © 2020 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.