La arteria de Percherón es una variante anatómica que se encarga de la irrigación bilateral de ambos tálamos mediales y sector rostral del tronco encefálico. Su obstrucción determina infartos en dichos territorios.Objetivo: Describir un caso clínico de infarto de la arteria de Percherón destacando los hallazgos clínicos e imagenológicos, para considerar esta patología en población pediátrica con compromiso de conciencia agudo.Caso Clínico: Adolescente de 17 años sana que presentó un cuadro de compromiso de conciencia y diplopía, la cual revierte en pocas horas. Mediante resonancia magnética de encéfalo se objetivó un infarto talámico medial bilateral, diagnosticándose una oclusión de la arteria de Percherón. Como único elemento presuntamente etiológico se objetivó la presencia de un foramen oval permeable. Se realizó corrección quirúrgica del defecto cardiaco y anticoagulación, con recuperación completa del cuadro.Conclusión: Es fundamental conocer el patrón clínico-radiológico de este cuadro, el cual es muy característico, pero de baja frecuencia en la edad pediátrica.

Although the association between basal ganglia (BG) stroke and mild traumatic brain injury (TBI) is well recognized, its association with lenticulostriate vasculopathy has only recently been described. We present the case of a 6-month-old female infant without personal or familiar relevant records who presented with left-sided hemiparesis and without altered consciousness after a mild TBI. An emergency computed tomography (CT) scan of the brain revealed bilateral linear calcifications along the course of the lenticulostriate arteries. Brain magnetic resonance imaging (MRI) revealed an ischemic lesion in the right BG and damage to the posterior limb of the right internal capsule. A few months after the ischemic event, the patient was asymptomatic. Given the clinical, radiological, and evolutionary characteristics of this group of patients, the term mineralizing angiopathy is proposed to define a specific clinical-imaging syndrome in infants who suffer a BG stroke after a mild TBI and present with the calcification of the lenticulostriate arteries.

Background Lissencephaly (LIS) is a cortical malformation, characterized by smooth or nearly smooth cerebral surface and a shortage of gyral and sulcal development, which is caused by deficient neuronal migration during embryogenesis. Neuronal migration involves many gene products, among which is the product of the PAFAH1B1 gene, associated with this disease. LIS is a rare disease, characterized by low population frequency, and with non-specific clinical symptoms such as early epilepsy, developmental delay or cerebral palsy-like motor problems. Given that high-throughput sequencing techniques have been improving diagnosis, we have chosen this technique for addressing this patient. Case presentation We present the case of a seven years old male patient with an undiagnosed rare disease, with non-specific clinical symptoms possibly compatible with lissencephaly. The patient was enrolled in a study that included the sequencing of his whole genome. Sequence data was analyzed following a bioinformatic pipeline. The variants obtained were annotated and then subjected to different filters for prioritization. Also mitochondrial genome was analyzed. A novel candidate frameshift insertion in known PAFAH1B1 gene was found, explaining the index case phenotype. The assessment through in silico tools reported that it causes nonsense mediated mechanisms and that it is damaging with high confidence scores. The insertion causes a change in the reading frame, and produces a premature stop codon, severely affecting the protein function and probably the silencing of one allele. The healthy mother did not carry the mutation, and the unaffected father was not available for analysis. Conclusions Through this work we found a novel de novo mutation in LIS1/PAFAH1B1 gene, as a likely cause of a rare disease in a young boy with non-specific clinical symptoms. The mutation found correlates with the phenotype studied since the loss of function in the gene product has already been described in this condition. Since there are no other variants in the PAFAH1B1 gene with low population frequency and due to family history, a de novo disease mechanism is proposed.