Corneal Pseudodendritic Lesions Masquerading as Herpetic Keratitis in a Patient With Tyrosinemia Type I

Sevim, Duygu Gülmez; Gümüş, Koray; Cavanagh, Harrison D

doi:10.1097/icl.0000000000000187

Cited by 5 publications

(2 citation statements)

References 9 publications

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“…The most frequently reported eye problems are transient itching, burning, and photophobia [12, 31, 51], although silent keratopathy, clinical corneal opacities, or even corneal crystals presenting as pseudodendritic lesions have been reported [12, 46, 63, 84–87]. Although no clear correlation between ocular problems and tyrosine concentrations could be found, withdrawal of NTBC or stricter adherence to the phenylalanine/tyrosine-restricted diet resolves the corneal lesions [12, 13, 87]. Therefore, ophthalmic follow-up is necessary and in case of eye problems, specific eye investigations with a slit lamp should be considered, while the diet should be intensified [82, 88].…”

Section: Adverse Effects Of Ntbcmentioning

confidence: 99%

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

et al. 2019

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Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 is clinically characterized by acute liver failure, development of hepatocellular carcinoma, renal and neurological problems, and consequently an extremely poor outcome. This review showed that the introduction of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in 1992 has revolutionized the outcome of TT1 patients, especially when started pre-clinically. If started early, NTBC can prevent liver failure, renal problems, and neurological attacks and decrease the risk for hepatocellular carcinoma. NTBC has been shown to be safe and well tolerated, although the long-term effectiveness of treatment with NTBC needs to be awaited. The high tyrosine concentrations caused by treatment with NTBC could result in ophthalmological and skin problems and requires lifelong dietary restriction of tyrosine and its precursor phenylalanine, which could be strenuous to adhere to. In addition, neurocognitive problems have been reported since the introduction of NTBC, with hypothesized but as yet unproven pathophysiological mechanisms. Further research should be done to investigate the possible relationship between important clinical outcomes and blood concentrations of biochemical parameters such as phenylalanine, tyrosine, succinylacetone, and NTBC, and to develop clear guidelines for treatment and follow-up with reliable measurements. This all in order to ultimately improve the combined NTBC and dietary treatment and limit possible complications such as hepatocellular carcinoma development, neurocognitive problems, and impaired quality of life. Key Points Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) has been found to be generally safe and has clearly improved treatment and outcomes for patients with tyrosinemia type 1.

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Section: Adverse Effects Of Ntbcmentioning

confidence: 99%

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

et al. 2019

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“…Viral infections are typically accompanied by a history of upper respiratory tract infections (although this may not occur in some patients) or decreased immunity; they are also generally unilateral. 15,16 Our patient did not demonstrate typical symptoms and manifested only posterior corneal deposits and swollen endothelial cells; therefore, we could only make the diagnosis of herpes simplex keratitis after PCR analysis of corneal scrapings. Empirically, antiviral drugs are used throughout the course of treatment because amoebic infection tends to undermine the barrier function of the cornea, such that it becomes more vulnerable to viral infection.…”

Section: Clinical Practice Pointsmentioning

confidence: 83%

Clinical diagnosis and treatment of rare painless keratitis caused by three pathogens: clinical practice and experiential discussion

Sun

Wang

et al. 2020

J Int Med Res

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There have been numerous reports regarding the occurrence of keratitis in patients with soft contact lenses, but few reports in patients with rigid gas permeable contact lenses. To the best of our knowledge, the occurrence of infection associated with three species of pathogens has never been reported. Here, we describe a patient who exhibited refractory painless keratitis caused by three pathogens (Staphylococcus epidermidis, Acanthamoeba, and herpes simplex virus) and summarize similar reports published at multiple centers worldwide, with the aim of providing guidance for clinicians who might encounter mixed-type corneal infections. We describe the results of many ophthalmologic and laboratory investigations, which guided our treatment selection. We achieved good treatment efficacy, such that the patient exhibited a corrected visual acuity of 20/20 in the affected eye after a series of treatments, including curettage of ulcer lesions. Corneal infections caused by multiple pathogens are challenging in clinical practice. This summary of our experience in patient diagnosis and treatment can help clinicians to achieve a favorable prognosis in treatment of future patients.

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Hereditary Tyrosinemia Type 1 in Turkey

Aktuğlu-Zeybek

Kıykım

Cansever

2017

Advances in Experimental Medicine and Biology

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Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism. Currently, the treatment in HT1 consists of two principles: inhibition of the formation of toxic metabolites by nitisinone [2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione; NTBC] and reduction of tyrosine levels by dietary treatment. In this chapter besides presenting the data for 42 patients that had been followed up by Pediatric Metabolic Diseases and Nutrition Unit, Cerrahpasa Medical Faculty, Istanbul University, we also evaluated the data abstracted from the previously published case studies in order to better understand the disease course and gain further insight in the current diagnosis and treatment for HT1 in Turkey.

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Corneal Pseudodendritic Lesions Masquerading as Herpetic Keratitis in a Patient With Tyrosinemia Type I

Cited by 5 publications

References 9 publications

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

Clinical diagnosis and treatment of rare painless keratitis caused by three pathogens: clinical practice and experiential discussion

Hereditary Tyrosinemia Type 1 in Turkey

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