Alberto Alcantud Bertolin

Hospital de Sagunto · Pediatrics

Background Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history...

Background Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history...

GPT2 deficiency is an autosomic recessive disorder with a neurodevelopmental phenotype characterised by microcephaly and intellectual disability.

https://continuum.aeped.es/courses/info/976#.XyfEahntaDI

A case report of Temple syndrome, an epigenetic disorder with multiple pediatric consequences, including growth and neurodevelopment.

Case description of the coocurrence of a Panayitopoulos syndrome in a patient with an undiagnosed preexisting Waardenburg type 1 syndrome, later genetically confirmed.

Introducción: Las mutaciones en los genes de las proteínas transportadores de glucosa (GLUT) ocasionan hipoglucorraquia y se manifiestan con gran variabilidad fenotípica, debiendo sospecharse en niños con epilepsia refractaria y trastornos del movimiento asociados (síntoma guía). Caso 1: Mujer 7 años, a los 4 años inicia crisis distónicas de miembr...

INTRODUCCIÓN: El síndrome de Allan-Herndon-Dudley es una enfermedad neurometabólica ligada al X que se caracteriza por retraso del desarrollo, hipotonía grave y tetraparesia espástica progresiva, con un patrón de hormonas tiroideas característico. Su causa es una malfunción del transportador de hormona tiroidea neuronal MCT8 por mutación en el gen...

Case description of a chronic bilirrubin encephalopathy spectrum disorder, in the form of auditive kernicterus. Review of the diagnostic criteria and clinical clues for its diagnosis, with especial attention to dental enamel.

Case report of a genitopatelar syndrome due to a KAT6B mutation. Methodology of diagnosis described, including the utilization of informatized phenotype analysis.

Case description of a secondary scoliosis due to a intramedullar hemangioblastoma in a patient with a previously undiagnosed von Hipple-Lindau disease. Review of red flags for secondary scoliosis in pediatric neurology.

Review of the clinical diagnosis, differential diagnosis an treatment of acute, subacute and chronic polyneuropathies in adults.

A clinic-pathological case study of extrapulmonar tuberculosis manifested as Pott's disease and tuberculous meningitis with a post-mortem etiologic diagnosis, and clinical onset in the form of a malignant stroke due to cerebral vasculitis.