Pediatric Neurology and rare diseases

Over the last three decades, the Pediatric Neurology Service at Vall d'Hebron University Hospital in Barcelona has been a pioneer in the country in developing a modern approach to the care of the severe neurological disorders of the developing nervous system. In the setting of a tertiary care center, a multidisciplinar attention to the patient, the fostering of clinical and applied research and the excellence in postgraduate training have been prioritized. This is reflected in the foundation of a laboratory research group and a Master programme in Pediatric Neurology. In the present review the Service achievements are illustrated through a brief account of the contributions made in the field of rare disorders. Among a large number of publications, we emphasize the description and characterization of at least three novel syndromes, a progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension, congenital brainstem dysgenesis and a distinct epileptic encephalopathy phenotype, as well as a rather productive research in genetics of migraine and other paroxysmal disorders and in the pathophysiology of muscle necrosis and regeneration associated to dystrophin deficiency.