Problemática de la transición, experiencias, punto de vista del neuropediatra / No disponible

La transición es definida como el desplazamiento decidido y planificado de adolescentes afectos de una enfermedad crónica, desde un sistema de asistencia centrado en el niño a otro orientado hacia el adulto. La mayoría de los pacientes con enfermedades neurológicas crónicas (ENC) sobreviven hasta la edad adulta y necesitan continuar el tratamiento en servicios para adultos. Las ENC infantiles son un grupo heterogéneo, por este motivo, para planificar la transición es necesario agrupar las patologías que puedan necesitar un tipo de actuación similar. La transición no es un evento, es un proceso que debe iniciarse con la antelación suficiente para ser aceptada y planificada, que garantice una continuidad de la atención durante la vida adulta. Se ha de realizar en un momento de estabilidad de la enfermedad. El primer paso es identificar a los Servicios de adultos que estén dispuestos a atender a estos pacientes especiales. Debe ir acompañada de la información necesaria (informe con la filiación del paciente, el diagnóstico principal, las complicaciones asociadas, que precisen seguimiento por diferentes especialidades, las exploraciones realizadas, los tratamientos). Al mismo tiempo puede ser necesaria una transición simultánea a otros profesionales, como fisioterapeuta, psicólogo, asistente social). No hay una transición típica, posiblemente son necesarios diferentes modelos, según las necesidades de cada grupo de pacientes y según las disponibilidades sanitarias. La mayoría de los pacientes o familias viven la transición con ansiedad, miedo y desconfianza y corresponde al Neuropediatra ayudar en este proceso de tránsito, ofreciendo el soporte necesario para que se realice con éxito (AU)

No disponible

Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.

Infantile neuronal ceroid lipofuscinosis (INCL; NCL1, Haltia-Santavuori disease) is caused by mutations in the CLN1/PPT gene which are associated with an early onset INCL phenotype. The most detailed descriptions of INCL have come from Finland and a few series have been reported from southern European countries. Clinical course and follow-up of six Spanish patients with INCL are reported with the aim of assessing the chronological evolution and severity of this disease. The age at disease onset ranged from 8 to 15 months. Delayed motor skills were the initial symptom when the disease began before 12 months of age, and ataxia was the first sign when the disease began later. Cognitive decline, which is described between 12 and 18 months of age, occurred from 16 to 20 months of age. In our series early stage is characterized by motor impairment, cognitive decline and autistic features. Visual failure may appear simultaneously with the neurological symptoms, leading quickly to blindness. As reported, psychomotor regression appeared between 2 and 3 years of age. Myoclonic jerks occurred after 24 months of age and epilepsy was the last symptom of the disease. We report two novel mutations in a patient without epilepsy to date and describe the features of two siblings homozygous for the V181M (c.541G>A) mutation, associated with the most severe INCL phenotype. The clinical evolution might be helpful to identify patients affected by this rare disease. Early diagnosis is essential in order to provide genetic counselling to affected families. Our series may contribute to the study of the genotype-phenotype INCL correlation in the Mediterranean countries.

Pontocerebellar hypoplasia type 2 and Reye-like syndrome.

Pontocerebellar hypoplasia is an autosomal recessive syndrome with onset during the fetal period. Two subtypes of pontocerebellar hypoplasia have been described on the basis of clinical and neuropathologic criteria. Pontocerebellar hypoplasia type 2 is characterized by progressive microcephaly, early onset of extrapyramidal dyskinesia, and near absence of motor and cognitive development, without signs of either spinal or peripheral involvement. We report a clinical observation of a patient with pontocerebellar hypoplasia type 2, a 3-year-old girl with progressive microcephaly, dystonic limb movements, and absence of motor and cognitive development. Cranial magnetic resonance imaging revealed pontocerebellar hypoplasia. At the age of 2 years, she suffered a Reye-like syndrome that worsened her condition. Differential diagnosis was established with intrauterine injuries, other malformative syndromes, and neurodegenerative or neurometabolic disorders, which can be associated with cerebellar hypoplasia.