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Two siblings with tyrosinaemia type 2.
- Source :
-
European Journal of Pediatrics . 2003, Vol. 162 Issue 2, p81. 3p. - Publication Year :
- 2003
-
Abstract
- We report on two siblings with tyrosinaemia type 2, a 6-year-old girl and her 3.5-year-old brother with a main complaint of painful palmo-plantar hyperkeratosis. The boy presented also conjunctival injection, photophobia, lacrimation and conjunctivitis. Blood tyrosine levels were increased in both patients, 150.6 and 202.3 µmol/dl, respectively (reference value: 5.8±2.2 µmol/dl). After 1 month of dietary treatment with low protein, low phenylalanine and tyrosine, tyrosine levels decreased to 37.7 and 65.6 µmol/dl, respectively; the cutaneous lesions improved in both of them, and conjunctivitis disappeared. Conclusion: the association of bilateral ulcero-conjunctivitis with photophobia and palmo-plantar hyperkeratosis since early infancy is the clue to the diagnosis of tyrosinaemia type 2. [ABSTRACT FROM AUTHOR]
- Subjects :
- *SIBLINGS
*CONJUNCTIVITIS
*DISEASES
Subjects
Details
- Language :
- English
- ISSN :
- 03406199
- Volume :
- 162
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- European Journal of Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 8981143
- Full Text :
- https://doi.org/10.1007/s00431-002-0962-4