1. Introduction and Relevance of Neuroimaging Brain Magnetic Resonance (MRI) constitutes the first-line complementary test after the anamnesis and detailed neurological examination in all children with suspected Childhood Cerebral Palsy (CPI). It is estimated that MRI reveals pathogenic abnormalities in more than 80% of cases, providing guidance on the...
Continue reading «Parálisis cerebral infantil y RM. Cuando pedir estudios genéticos.»
Clinical Factors Elevating the Probability of Diagnosis in Next Generation Sequencing (NGS): An Evidence-Based Review of the TRANSLATE NAMSE Study Next generation sequencing (NGS), especially whole exome (WES) and whole genome sequencing (WGS), has revolutionized the diagnosis of rare neurological disorders in childhood. However, its performance…
Continue reading «Síntomas que incrementan la probabilidad de diagnóstico en NGS (yield).»
The ARX (Aristaless-related homeobox) gene, located on chromosome Molecular Basis and Pathogenic Mechanisms The ARX protein contains a…
Facial Phenotypes in Cornelia de Lange Syndrome (CdLS) Cornelia de Lange syndrome (CdLS) is associated with a characteristic facial dysmorphic pattern that facilitates its clinical diagnosis: Synophridia: Very well-defined eyebrows, arched and united in the midline, along with unusually long eyelashes. Nasal anomalies: Short nose with depressed nasal bridge,…
Malformations of Cortical Development (CDM) Malformations of cortical development represent a broad group of structural abnormalities of the brain caused by the interruption of the biological processes of cell proliferation, neuronal migration or cortical organization during embryogenesis. Classification by Affected Stage Proliferation/Differentiation Anomalies: Microcephaly, megalencephaly, focal cortical dysplasia type II. Migration Anomalies…
Timing for performing MRI studies: Depending on age, there are different particularities and limitations: Age Justification for repetition 2 years…
Continue reading «Neurorradiología básica para neuropediatras.»
SCNx Database: A Rigorous Clinical Guide SCN Portal is an online database developed by the Broad Institute that provides information on the genetics and biology of sleep. This tool is valuable to medical professionals, especially neuropediatricians, as it offers a detailed resource on the spectrum of disorders…
Clinical Indicators of PCI Genetics Table 2. Summary of Indicators for Cerebral Palliacy Genetics Moderate Strong Possible 1. Dyskinesia2. Absence of spasticity3. Consanguinity∗4. Positive family history∗ 1. Intellectual disability2. Absence of premature birth3. No unilateral symptoms 1. Absence of perinatal risk factors2. Altered vision3. Microcephalus ∗ Known genetic indicator; comparison with the reference population…
Technological evolution in genomics has a very fast speed and clinical guidelines become obsolete with respect to usual clinical practice, so that professionals frequently find themselves with questions that are difficult to answer. Much has happened since the 2003 AAN guidelines, in which it was proposed as the first step...
