Publications by authors named "Raquel Perez Delgado"
Unlabelled: Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder, caused by a deficiency of the monocarboxylate transporter 8 (MCT8), a specific transporter of thyroid hormones, with functions mainly at the brain level. The syndrome produces an early onset of severe neurological disorder, in which hypotonia predominates.
Objective: To present a rare case with an unexpected diagnosis, highlighting the usefulness of requesting a complete thyroid profile in every hypotonic male infant without a specific cause.
Article Synopsis
- - Mucopolysaccharidosis type IIIB is a lysosomal storage disease that results from a deficiency of the enzyme N-acetyl-alpha-d-glucosaminidase, leading to the buildup of heparan sulfate in tissues.
- - An 8-year-old patient with this condition experienced chronic diarrhea linked to intestinal lymphangiectasia, which improved after starting a low-fat diet with medium-chain triglycerides.
- - The cause of chronic diarrhea in Mucopolysaccharidosis type IIIB is still unclear, but the presence of intestinal lymphangiectasia in these patients should be looked into, and dietary modifications may enhance their quality of life.
Introduction: Mesial temporal sclerosis (MTS) is defined as neuron loss and gliosis in the hippocampus and adjacent structures. Here we report on our 19 years' experience in dealing with this condition.
Patients And Methods: A retrospective, descriptive study was conducted of patients diagnosed with MTS between May 1990 and January 2009.
Patients And Methods: This study reviews our experience over the last 18 years with paediatric patients diagnosed with non-haemorrhagic cerebrovascular accidents (CVA) after the perinatal period. Data were collected for the period between May 1990 and May 2008 (n = 10 270 children) and special attention was given to cases with no previous pathology.
Results: We found 41 cases that were diagnosed with post-natal non-haemorrhagic CVA, of which 13 did not present any known pathology at the onset of the symptoms.