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[Tyrosinemia type II. Case report].

A I Benatiya1, M A Bouayed, E Touiza

  • 1Service d'Ophtalmologie, CHU Hassan II, Fès, Maroc. cherdoc@hotmail.com

Bulletin De La Societe Belge D'Ophtalmologie
|July 30, 2005
PubMed
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Tyrosinemia type II, a rare genetic disorder, causes eye and skin issues. Dietary changes limiting tyrosine and phenylalanine effectively improved a patient's symptoms.

Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Dermatology

Background:

  • Tyrosinemia type II, also known as Richner-Hanhart syndrome, is a rare autosomal recessive metabolic disorder.
  • It results from a deficiency in the enzyme tyrosine aminotransferase.
  • Characterized by pseudoherpetiform corneal ulcerations and palmoplantar hyperkeratosis.

Observation:

  • A 12-year-old male presented with superficial punctate keratitis and corneal dystrophy in both eyes.
  • The patient also exhibited palmoplantar hyperkeratosis.
  • Serum tyrosine levels were significantly elevated at 1236 micromol/l.

Findings:

  • The diagnosis of Tyrosinemia type II was confirmed by clinical presentation and elevated serum/urinary tyrosine levels.
  • A dietary regimen restricting tyrosine and phenylalanine intake was initiated.

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  • Favorable clinical improvement was observed after six months of dietary management.

    • Implications:

    • Early suspicion of Tyrosinemia type II is crucial, especially in cases of dendritic keratitis unresponsive to antiviral therapy.
    • Co-occurrence of characteristic skin lesions like palmo-plantar keratosis warrants further investigation for this condition.
    • Dietary management is an effective treatment strategy for Tyrosinemia type II, improving ocular and dermatological manifestations.