Two siblings with tyrosinaemia type 2.
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 micro mol/dl, respectively (reference value: 5.8+/-2.2 micro mol/dl). After 1 month of dietary treatment with low protein, low phenylalanine and tyrosine, tyrosine levels decreased to 37.7 and 65.6 micro mol/dl, respectively; the cutaneous lesions improved in both of them, and conjunctivitis disappeared.


CONCLUSIONS
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.
Aydin
Omer Faruk
OF
Dr. Sami Ulus Children's Hospital, 06530 Ankara, Turkey. ofaydin@yahoo.com
Zorlu
Pelin
P
Kunak
Benal
B
Tezic
Tahsin
T
Eken
Alev
A
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003231:Conjunctivitis / Q000150:complications; D003937:Diagnosis, Differential; D005260:Female; D005533:Foot Dermatoses / Q000150:complications; D006801:Humans; D007642:Keratosis / Q000150:complications; D008297:Male; D020795:Photophobia / Q000150:complications; D013577:Syndrome; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine