RESUMO
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare but fatal lung disorder, which causes persistent pulmonary hypertension of the newborn (PPHN) and which is unresponsive to treatment. We report the case of two siblings, both of whom died a few hours after birth because of severe pulmonary failure. Post-mortem histology confirmed ACD/MPV as the cause of death in both cases, and genetic analysis identified the same 16p13.3 deletion. ACD/MPV can occur suddenly in apparently healthy newborns after a regular pregnancy, and always leads to death. Nevertheless, an autopsy is not always performed after the death of an infant. For these reasons ACD/MPV represents a challenge for diagnosis and therapeutic management with medicolegal implications. Prenatal assessment of ACD/MPV is very difficult, and it should be suspected when irreversible and persistent fetal circulation occurs rapidly in newborns. An early diagnosis during pregnancy would facilitate adequate counselling regarding treatment and prognosis. When death occurs, a complete autopsy with histological and genetic investigations is recommended in order to define the exact cause of death, and potentially inform appropriate genetic counselling of family members who could be affected by hereditary disorders.
Assuntos
Síndrome da Persistência do Padrão de Circulação Fetal/etiologia , Alvéolos Pulmonares/anormalidades , Irmãos , Deleção Cromossômica , Cromossomos Humanos Par 16 , Humanos , Recém-Nascido , Pulmão/patologia , Masculino , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico , Síndrome da Persistência do Padrão de Circulação Fetal/genética , Insuficiência Respiratória/etiologiaRESUMO
Internal carotid artery dissection (ICAD) after motorcycle accidents is unusual but life threatening if not promptly diagnosed and treated. We report the case of a motorcyclist involved in a frontal collision with a car, suffering injuries due to direct blunt trauma and indirect trauma by sudden deceleration force. Bilateral ICAD was diagnosed by computed tomography angiogram 5 days after the accident. Here in, starting from a medicolegal case, we emphasized some clinical criteria to make a prompt diagnosis to prevent permanent neurological deficit in this pathology whose best management is still under the debate. An unusual case of ICAD is described with regard to both forensic and promptly diagnostic therapeutic management.
