Rastreio de heterotopia nodular periventricular com ultrassom transfontanelar em paciente assintomático com fator de risco: relato de caso

Abstract

Periventricular nodular heterotopia (PH) results from abnormal neuronal migration during the genesis of the central nervous system, especially in the fetal period. It is asymptomatic in the neonatal period, however, is often characterized as epileptiform focus that is difficult to control throughout life, impacting the neuropsychomotor development and the quality of life of the child and his caregiver. Because it is related to genetic abnormality, often derived from a hereditary pattern, it can be predicted that affected parents may generate offspring with such a clinical condition. In this context, however, the use of transfontanellar ultrasonography (USTF) in the neonatal period, to screen PH in patients who have a positive family history for the clinical condition, is not yet consensus in the current literature. Thereby, we sought to report the case of PH diagnosed at random, in asymptomatic neonate, but with epileptic parent with the same condition, not known during prenatal care. The child showed signs suggestive of neuronal ectopy in requested USTF due to the risk of periventricular hemorrhage, which was later confirmed with brain magnetic resonance.

Keywords

• periventricular nodular heterotopia
• malformations of cortical development
• malformations of cortical develpment
• group ii
• ultrasonography