ABSTRACT
Fifteen-month-old twins presented with photophobia and bilateral corneal pseudodendrites, and tyrosinemia type II was suspected. Plasma tyrosine levels were elevated. After therapy with tyrosine-restricted diet, corneal lesions resolved. Bilateral pseudodendritic keratitis may be the initial or only manifestation of tyrosinemia type II.
Subject(s)
Corneal Diseases/diagnosis , Dendrites/pathology , Diseases in Twins/diagnosis , Twins, Monozygotic , Tyrosinemias/diagnosis , Blepharospasm/diagnosis , Corneal Diseases/diet therapy , Corneal Diseases/genetics , Diet, Protein-Restricted , Diseases in Twins/diet therapy , Diseases in Twins/genetics , Humans , Infant , Male , Photophobia/diagnosis , Tyrosine/blood , Tyrosinemias/diet therapy , Tyrosinemias/geneticsABSTRACT
Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine aminotransferase enzyme. We report a 15-year-old female patient with complaints of bilateral photophobia and tearing, which started during the infancy period. Biomicroscopic examination revealed bilateral circular corneal opacities on the inferior quadrant and small dendritic lesions at the center of the circular opacities. Blood tests showed a tyrosine level of 508 micromol/L (normal range: 30-150). On her dermatologic examination, plantar hyperkeratosis and seborrheic dermatitis were noted, and mild mental retardation was detected. One and a half months after the tyrosine- and phenylalanine-restricted diet, her tyrosine level dropped to 395 micromol/L level, her corneal lesions subsided, and a symptomatic relief was achieved. Tyrosinemia type II should be suspected in patients demonstrating dermatologic signs, especially palmoplantar keratosis, associated with bilateral pseudodendritic corneal lesions unresponsive to antiviral therapy.
Subject(s)
Corneal Diseases/complications , Keratoderma, Palmoplantar/diagnosis , Tyrosinemias/diagnosis , Adolescent , Corneal Diseases/blood , Corneal Diseases/diagnosis , Corneal Diseases/diet therapy , Delayed Diagnosis , Female , Humans , Keratoderma, Palmoplantar/blood , Keratoderma, Palmoplantar/complications , Keratoderma, Palmoplantar/diet therapy , Tyrosine/blood , Tyrosinemias/blood , Tyrosinemias/complications , Tyrosinemias/diet therapyABSTRACT
Two cases of tyrosinaemia with eye and skin lesions typical of the Richner-Hanhart syndrome are described. The patients are a 29- and 26-year-old brother and sister. They do not show neurological abnormalities or mental retardation. Parents are not consanguineous and family history is negative for similar conditions. The diagnosis of type II tyrosinaemia was based upon an increase of blood tyrosine (14-16mg/100 ml), tyrosinuria and absence of liver and kidney abnormalities. The treatment with a low tyrosine phenylalanine diet has resulted in a disappearence of the ocular manifestations while the cutaneous lesions are much improved.
Subject(s)
Amino Acid Metabolism, Inborn Errors/genetics , Corneal Diseases/genetics , Keratoderma, Palmoplantar/genetics , Tyrosine/blood , Adult , Amino Acid Metabolism, Inborn Errors/diet therapy , Child, Preschool , Corneal Diseases/diet therapy , Female , Humans , Infant , Keratoderma, Palmoplantar/diet therapy , Male , Syndrome , Tyrosine TransaminaseABSTRACT
A nutrition rehabilitation centre for treatment of children with xerophthalmia was established in Madurai, India. Treatment was based on provision of locally available food, rich in protein and beta-carotene and cheap enough for the families concerned to buy at home. This diet alone, with general medical treatment for other diseases, was sufficient to reverse conjunctival xerophthalmia and corneal xerosis. Children with more severe xerophthalmia received additional vitamin A. The records of 296 children followed up for between two months and three years were analysed. The results of treatment at the centre seemed as good as those produced by more expensive, and usually unobtainable, hospital treatment. Participation of the mother in buying, cooking, and sharing the food given to her child was of some educational value.
