First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).

Hunter syndrome (mucopolysaccharidosis type II [MPS II], OMIM309900) is a rare X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulphatase, resulting in accumulation of glycosaminoglycans (GAGs), multisystem organ failure and early death. Enzyme replacement therapy (ERT) with idursulfase is commercially available since 2007. Early access programs were established since 2005. However, limited information on the effects of ERT in young children is available to date. The aim of this analysis was therefore to determine the effects of ERT on patients younger than 5 years of age. We report data from six Spanish patients with confirmed Hunter syndrome who were younger than 5 years at the start of ERT, and had been treated with weekly intravenous infusions of idursulfase between 6 and 14 months. Baseline and treatment data were obtained from the Hunter Outcome Survey (HOS). HOS is an international database of MPS II patients on ERT or candidates to be treated, that collects data in a registry manner. HOS is supported by Shire Human Genetic Therapies, Inc. (Cambridge, MA, USA). At baseline, all patients showed neurological abnormalities, including ventriculomegaly, hydrocephaly, cerebral atrophy, perivascular changes and white matter lesions. Other signs and symptoms included thoracic deformity, otitis media, joint stiffness and hepatosplenomegaly, demonstrating that children under 5 years old can also be severely affected. ERT reduced urinary GAG levels, and reduced spleen (n = 2) and liver size (n = 1) after only 8 months. Height growth was maintained within the normal range during ERT. Joint mobility either stabilized or improved during ERT. In conclusion, this case series confirms the early onset of signs and symptoms of Hunter syndrome and provides the first evidence of ERT beneficial effects in patients less than 5 years of age. Similar efficacy and safety profiles to those seen in older children can be suggested, although further studies including a direct comparison with older patients would still be required.

Incidencia de la diabetes mellitus tipo 1 en la población de 0-14 años de edad, de la provincia de Jaén (1995-2000) / No disponible

Antecedentes. Los estudios de incidencia de diabetes tipo 1 son prioritarios para establecer tendencias y diferencias geográficas que ayuden a clarificar los factores ambientales que pueden intervenir. Y a un mejor conocimiento de la enfermedad. Objetivo. Conocer la incidencia de diabetes tipo 1, en la población de 0-14 años de edad, de la provincia de Jaén, durante el periodo 1995-2000. Pacientes y métodos. Diseño observacional, longitudinal y retropectivo. Los criterios de definición de casos fueron: criterios diagnósticos (normas del “NDDG” y “ADA”, edad de 0-14 años, y residencia de Jaén de forma habitual. La fuente de identificación fueron las historias clínicas de la red hospitalaria provincial. La población de rieso se estableció según datos y estimaciones censales. Se calculó la densidad de incidencia por años yla incidencia media para los seis años de estudio. Resultados. La incidencia media observada en Jaén es de 15.24 casos/105 niños-año; apreciándose, desde el año 1996 a 2000 una ligerísima tendencia a la disminución de las incidencias anuales (20,2 casos /105 niños a 12,1 casos/105). Se observó un ligero predominio de incidencia entre los varones, muy marcado en el grupo de 0-4 años de edad, donde el cociente de incidencias varón: mujer alcanza una cifra de cuatro. El grupo de edad de 5-9 años es el de mayor incidencia de diabetes, siendo llamativa la baja incidencia observada en niñas de 0-4 años de edad. Conclusiones. La incidencia de diabetes tipo 1 en Jaén en menor de la esperada y se observa una relativa estabilidad o ligero descenso en el peiodo de 1996-2000 (AU)

Introduction. The studies about incidence of diabetes mellitus type 1 (DM-1) are very important in order to establish geographical differences and to clarify the role of environment factors in the pathogenesis of the illness. Objedtive. Knowing the incidence of DM_1 in children younger than 14 years old in Jaén from 1995-2000. Patients and methods. We notice a slight tendency for annual incidence to go dow (from 20,2 cases/105 children to 12,1 cases/105). There was a slightly greater incidence in males than in females, specially in children 0 to 4 years of age. The highest incidence was observed among children 5 to 9 years of age and the lowest one in children diagnosed within the first year of live. Conclusions. The incidence of DM_1 in Jaén is lower than we expected and there is an very slight tendency to lower form 1996 to 2000 (AU)

[Acute monocytic leukemia as secondary neoplasia in a girl with acute lymphocytic leukemia]. / Leucemia monocítica aguda (LMA-M5) como segunda neoplasia en una niña con LLA-L1.

The presence of second malignancies in children suffering from acute lymphoblastic leukemia (ALL) is becoming increasingly frequent. Nevertheless, the appearance of M5 type acute myeloid leukemia (AML) in patients being treated for ALL is very rare. We report the presence of AML-M5 as a second malignancy in a girl diagnosed of ALL-L1 56 months before. The clinical course of this rare association is discussed.

[Extrinsic allergic alveolitis: apropos of a case in a child]. / Alveolitis alérgica extrínseca: a propósito de un caso en edad pediátrica.

We present a young male (12 years) with low grade fever, weight loose, anorexia and progressive dyspnea. The clinical, roentgenological and pulmonary function pictures are close with interstitial pneumonitis. The patient had a pigeon loft on his house, thus we tried confirmed the diagnosis of extrinsic allergic alveolitis: pigeon breeder's lung. We believed at any patient age the pigeon breeder's lung must be considered in the differential diagnosis of interstitial pneumonitis. A good anamnesis will avoid unnecessary complementary test.