Ophthalmology Department, Hôpital-Fondation A. de Rothschild, Paris, France.
Necker-Enfants Malades University Hospital, Reference Center of Metabolic Diseases, Paris, France; Paris-Descartes University, Sorbonne-Paris-Cité, Paris, France.
J AAPOS. 2020 Apr;24(2):120-122. doi: 10.1016/j.jaapos.2019.12.007. Epub 2020 Feb 1.
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.
一位 2 岁女孩,有 1 年畏光史,表现为双侧眼红,发现树枝状角膜溃疡,最初用阿昔洛韦软膏治疗,但未见改善。临床检查发现手指和脚趾有小的皮肤损伤。伪树枝状角膜炎伴手掌和足底过度角化损伤提示 2 型酪氨酸血症,这通过血浆酪氨酸水平升高(2134μmol/L)得到证实。限制蛋白质的饮食导致角膜和皮肤病变完全消退,并避免了酪氨酸对中枢神经系统的潜在毒性。