Corneal lesion as the initial manifestation of tyrosinemia type II

Chun Pin Tsai, Pei Yu Lin, Ni Chung Lee, Dau Ming Niu, Shui Mei Lee, Wen-Ming Hsu

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Tyrosinemia type II (Richner-Han hart syndrome) is a rare autosomal recessive disease with deficiency of tyrosine aminotransferase and subsequently increasing level of serum tyrosine. We report the case of a 2-year-old girl who was referred due to bilateral corneal lesions. Slit-lamp examination showed small granular white deposits arranged in a dendritic pattern in the superficial central cornea of both eyes. Physical examination revealed painful, non-pruritic, hyperkeratotic plaques on the soles, palms and fingertips. Mental evaluation demonstrated developmental delay for her age. Blood examination revealed serum tyrosine level to be 1,868 μM (normal range, 30-110 μM), which decreased to 838 μM with 2-month diet on tyrosine and phenylalanine restriction. The corneal and skin lesions resolved completely. However, the corneal deposits recurred a month later as her mother failed to strictly control the diet because the little girl was losing weight and activity. With specific formula and adjusted diet regimen, the corneal lesions decreased again. Corneal pseudodendritic deposits may be the initial manifestation in patients with tyrosinemia type II. Early diagnosis and intervention with diet control are crucial for preventing permanent visual and developmental deficits. Corneal deposits can be one of the parameters in monitoring the efficacy of diet control.

Original languageEnglish
Pages (from-to)286-288
Number of pages3
JournalJournal of the Chinese Medical Association
Volume69
Issue number6
DOIs
Publication statusPublished - Jan 1 2006
Externally publishedYes

Fingerprint

Tyrosinemias
Diet
Tyrosine
Formulated Food
Serum
Phenylalanine
Cornea
Physical Examination
Early Diagnosis
Reference Values
Mothers
Weights and Measures
Skin

Keywords

  • Cornea
  • Pseudodendritic
  • Richner-Hanhart syndrome
  • Tyrosinemia type II

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Corneal lesion as the initial manifestation of tyrosinemia type II. / Tsai, Chun Pin; Lin, Pei Yu; Lee, Ni Chung; Niu, Dau Ming; Lee, Shui Mei; Hsu, Wen-Ming.

In: Journal of the Chinese Medical Association, Vol. 69, No. 6, 01.01.2006, p. 286-288.

Research output: Contribution to journalArticle

Tsai, Chun Pin ; Lin, Pei Yu ; Lee, Ni Chung ; Niu, Dau Ming ; Lee, Shui Mei ; Hsu, Wen-Ming. / Corneal lesion as the initial manifestation of tyrosinemia type II. In: Journal of the Chinese Medical Association. 2006 ; Vol. 69, No. 6. pp. 286-288.
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