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An Infant with Bilateral Keratitis: From Infectious to Genetic Diagnosis
Louis-Philippe Thibault1, Grant A Mitchell2, Brigitte Parisien1
1Division of General Pediatrics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Quebec, Canada.
The American Journal of Case Reports
|November 30, 2022
Summary
Tyrosinemia Type II (TYRII) can mimic herpes simplex virus (HSV) keratitis due to similar corneal lesions. Early suspicion and genetic testing are crucial for diagnosing TYRII, especially in infants with ocular and skin findings.
Area of Science:
- Metabolic disorders
- Ophthalmology
- Genetics
Background:
- Tyrosinemia Type II (TYRII) is a rare genetic metabolic disorder caused by tyrosine aminotransferase (TAT) deficiency.
- It leads to hypertyrosinemia and characteristic ocular and skin manifestations.
Observation:
- A 10-month-old infant presented with photophobia and bilateral dendritiform corneal lesions, initially suspected as herpes simplex virus (HSV) keratitis.
- A papular, crusted lesion on the thumb also raised HSV concerns.
- The patient showed improvement with acyclovir treatment, but HSV testing was negative.
Findings:
- The infant was diagnosed with Tyrosinemia Type II (TYRII) confirmed by elevated plasma tyrosine levels and molecular analysis.
- Corneal involvement in TYRII can be misdiagnosed as HSV keratitis.
Implications:
- Clinical presentation alone should not preclude further investigation for TYRII.
- Clinicians should consider TYRII in infants with dendritiform corneal lesions, even without typical palmoplantar hyperkeratosis.
- Prompt diagnosis of TYRII is essential for appropriate management and to prevent complications.
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