Síndrome de Beckwith-Wiedemann. Aportación de cinco casos y revisión de la literatura / Beckwith-Wiedemann syndrome: a report

Presentamos nuestra experiencia con el síndrome de Beckwith-Wiedemann (SBW), aportando cinco casos, cuyo diagnóstico y seguimiento se llevó a cabo en nuestro centro y que se registraron desde el año 1987 hasta 1998. Todos ellos son hijos de padres sanos no consanguíneos. Presentan un desarrollo psicomotor normal, y la edad media de seguimiento ha sido de 5,2 años (rango: 20 meses-10 años). Todos ellos, menos uno, cumplen al menos 3 criterios mayores: patología onfalica, macroglosia, hipoglucemia neonatal y gigantismo pre y/o posnatal y alguno de los diferentes criterios menores descritos en este síndrome. Los cinco pacientes sobreviven en la actualidad. El caso 5 es una forma incompleta de la enfermedad, pero que presenta la característica del desarrollo de un tumor de Wilms a lo largo de su evolución (AU)

[Graves-Basedow's disease in childhood and adolescence: clinical and biologic features in 49 patients]. / Enfermedad de Graves-Basedow en la infancia y la adolescencia: aspectos clinicobiológicos en 49 casos.

INTRODUCTION: Graves' disease is rare in childhood and adolescence. PATIENTS AND METHODS: Six boys and 43 girls between the ages of 2 and 18 years were evaluated. All presented diffuse goiter and symptomatology of hyperthyroidism. Concentrations of T4, FT4, T3 and TSH were determined by RIA with various sensitivities during the study. Thyroid antibodies were determined by hemagglutination. All patients were treated with antithyroid drugs. RESULTS: In five patients, growth velocity increased. In a further five patients association with other autoimmune diseases was detected. Quetelet's index was between the 90th and 97th percentiles in five patients and between 3rd and 10th in eight. Biochemical results were as follows: T4: 282.41 +/- 1.1 nmol/1; FT4: 62.98 +/- 1.1 pmol/l; T3: 4.92 +/- 0. 07 nmol/l) and TSH: > 0.002-0.001 mU/l. Values of TSI/TRAb were 33. 23 +/- 1.95 U/l. Four total remissions and 1 partial remission were observed. Four patients underwent surgery and eight received radioiodine. CONCLUSIONS: Few remissions were obtained with medical treatment. Radioiodine seems to be a therapeutic alternative.

[Acute interstitial nephritis of probable pharmacological origin]. / Nefritis intersticial aguda de probable etiología medicamentosa.

Acute interstitial nephritis in children is rare. We present a case of acute interstitial nephritis in a 10-year-old boy, which was probably drug-induced. Initial symptoms included fever, loss of appetite, weight loss, alterations in urine analysis and mild renal failure. Treatment with steroids produced a good clinical response and renal function returned to normal within a few months.

Enfermedad de graves-basedow en la infancia y la adolescencia: aspectos clinicobiológicos en 49 casos / Grave's disease in childhood and adolescence: clinical and biochemical aspects in 49 patients

INTRODUCCIÓN: La enfermedad de Graves-Basedow es rara en la infancia y la adolescencia. PACIENTES Y MÉTODOS: Se han evaluado 6 niños y 43 niñas, con edades comprendidas entre 2 y 18 años. Todos presentaban un bocio difuso y sintomatología de hipertiroidismo. Las concentraciones de T4, FT4, T3 y TSH se determinaron por radioinmunoanálisis con diferente sensibilidad a lo largo del tiempo y los anticuerpos, por hemaglutinación. Todos fueron tratados con fármacos antitiroideos. RESULTADOS: En 5 casos se detectó un aumento de la velocidad de crecimiento y en otros 5 había una asociación con otras autoinmunopatías. El índice de Quetelet estaba entre los percentiles 90 y 97 en 5 casos, y entre 3 y 10 en 8 casos. Los resultados bioquímicos fueron: T4 282,41 ñ 1,1 nmol/l; FT4 62,98 ñ 1,1 pmol/l; T3 4,92 ñ 0,07 nmol/l; TSH < 0,002 mU/l. Los valores de TSI/TRAb fueron 33,23 ñ 1,95 U/l. Se han obtenido 4 remisiones totales y una parcial. En 4 ocasiones se recurrió a cirugía y 8 pacientes recibieron 131I. CONCLUSIÓN: Se han obtenido pocas remisiones con el tratamiento médico y el radioyodo parece ser una terapéutica alternativa (AU)

[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.