Juan Pablo García Íñiguez

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INTRODUCTION Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with(More)
Osteopetrosis (OP) is a congenital bone disease which is caused by a functional disorder in osteoclasts with inability for normal bone resorption, leading to increased bone mineral density and bone sclerosis. It can be classified into different groups according to their clinical and their genetic characteristics: autosomal recessive with several subtypes(More)
INTRODUCTION There are transient intracranial hypertension cases, recognizable by bulging fontanelle in infants and by papilloedema in children. We present our experience in benign intracranial hypertension (BIH) cases, excluding traumatic brain injuries, encephalitis and meningitis. RESULTS Among the entire neuropaediatric database, with 10,720 children(More)
INTRODUCTION We present our experience on idiopathic intracranial hypertension (IIH), before and after the introduction of a specific diagnosis and management protocol. METHOD A descriptive retrospective study was conducted on patients with IIH over a 25year period (1990-2015), comparing the last 7years (after introduction of the protocol) with the(More)