[Early onset Neurobehçet's disease].

Introduction: Behçet's disease is difficult to diagnose in infancy due to the absence of early clinicopathological pathognomonic symptoms. There have been reports of patients in whom the onset of the disease occurred during the first months of their lives.

Case Report: We describe here the case of a 12-year-old female from Pakistan whose first symptoms appeared at the age of 6 months in the form of fever and skin lesions.

[Evolution of a case of tyrosinemia type I treated with NTBC].

Tyrosinemia type I is an autosomal recessive inherited disorder caused by deficient fumarylacetoacetase activity. Treatment with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexanedione (NTBC), an inhibitor of 4-hydroxyphenylpyruvate dioxygenase, has successfully been applied for the last few years. Our aim was to evaluate the clinical and biochemical response to treatment with NTBC of a 18-year-old patient with a chronic form of tyrosinemia type I, whose main clinical feature was vitamin D-resistant rickets leading to severe osteoporosis with multiple bone fractures and skeletal deformities.

Development of a Spanish (Castillian) version of the Childhood Health Assessment Questionnaire. Measurement of health status in children with juvenile chronic arthritis.

Objective: To demonstrate that the Spanish (Castillian) version of the Childhood Health Assessment Questionnaire (cHAQ-S) is a valid and reliable instrument for measuring the health status of children with juvenile chronic (or rheumatoid) arthritis (JCA) and is sensitive to change.

Methods: A conceptual translation of the original questionnaire into Spanish and two back-translations were performed. The cHAQ-S was completed by the parents of young children (aged 1 to 19 years) affected by JCA, and additionally by those children aged over 9.