[Early onset Neurobehçet's disease]. / Neurobehçet de presentación precoz.

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. The first neurological symptoms appeared at the age of 5 years in the form of ophthalmoplegia, followed by ataxia and dysmetry. Magnetic resonance imaging of the head was a valuable aid in the study of the vascular alterations. She also presented abdominal pains, arthromyalgia, ulcers in the mouth and severely delayed weight gain. Yet, we were finally guided towards a diagnosis by the appearance of ulcers on the genitals, which do not usually occur until puberty, as well as the findings from the skin biopsy study. The serological study revealed the presence of antigen B08. Establishing therapy with methylprednisolone and later with azathioprine brought about the practically complete remission of the clinical picture. CONCLUSIONS: Behçet's disease, which has been infrequent in our country up till now, is a condition to be taken into account, especially in young female patients from countries with a high incidence rate of oral and genital ulcers, accompanied by neurological symptoms. Knowledge of this syndrome and performing appropriate complementary studies are essential to be able to reach an early diagnosis and for establishing suitable treatment.

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. A second cHAQ-S was administered at least 15 months after the first one. RESULTS: The cHAQ-S was administered to 79 patients of patients affected by JCA. The test-retest reliability was evaluated among 16 patients, and no significant differences between the first and second administration were found (0.88 versus 0.84; p > 0.6; intraclass correlation coefficient R = 0.94). The Cronbach's alpha coefficient was 0.948, indicating an excellent internal reliability with a mean correlation between the different components of the questionnaire varying from 0.3557 to 0.7831. For the between-observer reliability, an intraclass correlation coefficient of 0.96 was obtained. Correlations between DI (Disability Index) and several measures of disease activity were all statistically significant (Spearman's R ranged from 0.42 to 0.87; p < 0.005). Patients who improved showed similar improvement in the DI (p = 0.015), while patients who worsened showed a worsening of the DI (p = 0.1) and patients whose condition was stable showed no change in DI (p = 0.6). CONCLUSION: The cHAQ-S is a feasible, reliable and valid instrument for the determination of the health status of Spanish children suffering from JCA. It is also sensitive to changes in the child's health status.

[Evolution of a case of tyrosinemia type I treated with NTBC]. / Evolución de un caso de tirosinemia crónica tipo I tratado con 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. After treatment, toxic metabolites became undetectable and porphobilinogen synthase activity returned to normal. Renal function improved, blood hemoglobin returned to normal and alfa-fetoprotein decreased. The patient's general condition greatly improved. However, the alfa-fetoprotein concentration slowly increased during the second year of NTBC treatment and hepatocellular carcinoma developed. NTBC treatment should be considered even in advanced cases of tyrosinemia type I, although only as a palliative therapy.

[Raynaud phenomenon in childhood: review and progress control in eight cases]. / Fenómeno de Raynaud en la infancia: revisión y control evolutivo de ocho casos.

OBJECTIVE: The purpose of this study was to analyze the properties of Raynaud's phenomenon in childhood, as well as its evolution, pathology and differences with regard to adults. PATIENTS AND METHODS: The cases of patients affected by Raynaud's phenomenon between 1988 to 1996 in the pediatric rheumatology unit of Sant Joan de Déu in Barcelona have been reviewed. We evaluated the information regarding the clinical history and the complementary tests performed. RESULTS: We examined the results of eight cases affected by Raynaud's phenomenon. All of these were girls with an average age of 9 years and 9 months. The most typical clinical feature was sensitivity to cold. From an analytical point of view, 62.5% of the cases had positive antinuclear antibodies. Nail-fold capillary microscopy, which was carried out in all patients, was abnormal in six cases and had a "scleroderma-like" pattern in three of them. According to Le Roy-Medsger diagnostic criteria, we found one case (12.5%) of Raynaud's phenomenon classified as primary, five more (62.5%) as probably secondary to a connective tissue disease and two cases as secondary (25%, a sclerodermic and connective tissue disease). CONCLUSION: Raynaud's phenomenon could be the first symptom of a connective tissue disease, but in general there is a low prevalence in childhood. It is important to follow up these girls for a long period because of the high probability of developing a connective tissue disease. It is possible to do this thanks to anamnesy, clinical exploration, searching for antinuclear antibodies and nail-fold capillary microscopy.

[Kawasaki disease. A report of 50 cases]. / Enfermedad de Kawasaki. Presentación de cincuenta casos.

OBJECTIVE: We present 50 cases of Kawasaki's disease (KD), diagnosed and controlled in our hospital between January 1984 and December 1997. PATIENTS AND METHODS: Fifty patients were reviewed. In forty-six of these cases the onset was complete, according to the Research Committee of MLNS diagnosis criteria and four cases had incomplete onset. RESULTS: The ration male/female was 1.9/1. Both fever and oral cavity lesions were present in all cases. In 93.4% desquamation of fingers was observed. The most frequent skin lesion was maculopapular rash. Fourteen patients had atypical onset: adenophlegmon, aseptic meningitis, symptomatic hepatitis, parotiditis, queratopathia punctata and arthritis. Blood analysis showed alterations of high ESR (88% of cases), C-reactive protein (62%), leukocytosis (82%) and thrombocytosis (96%). Fifteen patients were treated with gamma globulin (IGIV), five received a single 2 g/Kg dose and ten received 400 mg/Kg per day during four days. Eight percent of our cases produced cardiovascular complications, none that included coronary aneurysms. CONCLUSIONS: After IGIV treatment we observed a shortening of the febrile period and amelioration of clinical symptoms. No deaths were reported.

Neurobehçet de presentación precoz / Early onset Neurobehçet’s disease

Introducción. La enfermedad de Behçet es de difícil diagnóstico en la infancia debido a la ausencia de manifestaciones clinicopatológicas patognomónicas precoces. Se han descrito pacientes de inicio desde los primeros meses de vida. Caso clínico. Niña de 12años de origen paquistaní, cuyas primeras manifestaciones aparecieron a los 6 meses en forma de fiebre y lesiones cutáneas. A los 5años surgió la primera manifestación neurológica en forma de oftalmoplejía, posteriormente ataxia y dismetría. La resonancia magnética craneal resultó útil en el estudio de las alteraciones vasculares. También presentó dolores abdominales, artromialgias, úlceras orales y grave retraso ponderal. Pero fueron las úlceras genitales, que no suelen presentarse hasta la pubertad, así como el resultado de la biopsia cutánea, lo que orientó hacia el diagnóstico. El estudio serológico mostró la presencia del antígeno B08. La instauración de tratamiento con metilprednisolona y posteriormente azatioprina supusola remisión prácticamente completa del cuadro clínico. Conclusiones. La enfermedad de Behçet, infrecuente hasta ahora en nuestro país, es una entidad a tener en cuenta, especialmente en niñas procedentes de países con alta incidencia de úlceras orales y genitales, acompañadas de manifestaciones neurológicas. El conocimiento de dicho síndrome y la realización de estudios complementarios adecuados es imprescindible para un diagnóstico precoz y la instauración de un tratamiento adecuado (AU)

Introduction. Behçet's disease is difficult to diagnose in infancy due to the absence of early clinic pathological 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. The first neurological symptoms appeared at the age of 5 years in the form of ophthalmoplegia, followed by ataxia and dysmetry. Magnetic resonance imaging of the head was a valuable aid in the study of the vascular alterations. She also presented abdominal pains, arthromyalgia, ulcers in the mouth and severely delayed weight gain. Yet, we were finally guided towards a diagnosis by the appearance of ulcers on the genitals, which do not usually occur until puberty, as well as the findings from the skin biopsy study. The serological study revealed the presence of antigen B08.Establishing therapy with methylprednisolone and later with azathioprine brought about the practically complete remission of the clinical picture. Conclusions. Behçet's disease, which has been infrequent in our country up till now, is a condition to betaken into account, especially in young female patients from countries with a high incidence rate of oral and genital ulcers, accompanied by neurological symptoms. Knowledge of this syndrome and performing appropriate complementary studies are essential to be able to reach an early diagnosis and for establishing suitable treatment (AU)

Artritis idiopática juvenil. Nueva denominación, nueva clasificación y clínica / Juvenile idiopathic arthritis: new name, new classification and clinical features

En 1997; durante el Congreso de MALAR., celebrado en la ciudad de Durban (Suráfrica), se llegó a una conclusión por consenso oficial para modificar el nombre de la artritis crónica juvenil (ACJ), el de la artritis reumatoide juvenil (ARJ), así como el de enfermedad de Still, por el de artritis idiopática juvenil (AIJ). Esta es la denominación que se debería adoptar en todas las publicaciones que se realicen al respecto, pues engloba una serie de procesos que tienen como característica común la artritis inflamatoria de causa desconocida (AU)

Evolución de un caso de tirosinemia crónica tipo I tratado con NTBC / Evolution of a case of tyrosinemia type i treated with ntbc

La tirosinemia tipo I es una enfermedad hereditaria autosómica recesiva causada por la actividad deficiente de la enzima fumarilacetoacetasa. El tratamiento con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexadiona (NTBC), un inhibidor del 4-hidroxifenilpiruvato dioxigenasa, ha sido usado con éxito en los últimos años. Se ha evaluado la respuesta clínica y bioquímica al tratamiento con NTBC en un paciente de 18 años con una forma crónica de tirosinemia tipo I, con hallazgos clínicos de raquitismo por vitamina D resistente junto con osteoporosis y múltiples fracturas y deformidades esqueléticas. Con el tratamiento los metabolitos tóxicos llegaron a ser indetectables con actividad enzimática de la porfobilinógeno sintetasa normalizada. La función renal mejoró, la hemoglobina se normalizó y la concentración de alfafetoproteína disminuyó. Su estado general mejoró de manera espectacular. Sin embargo, durante el segundo año de tratamiento, la concentración de alfafetoproteína aumentó considerablemente y el paciente desarrolló un carcinoma hepatocelular. El tratamiento con NTBC debe considerarse, incluso en casos de tirosinemia tipo I avanzados, como terapia paliativa (AU)

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