Bilateral dendriform ulcer leading to an early diagnosis of tyrosinemia type 2

Abstract

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.