{Reference Type}: Case Reports
{Title}: Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report.
{Author}: Bahmad HF;Ramesar L;Nosti C;Anthonio G;Brathwaite C;Vincentelli C;Castellano-Sánchez AA;Poppiti R;
{Journal}: Diseases
{Volume}: 10
{Issue}: 4
{Year}: Nov 2022 1
暂无{DOI}: 10.3390/diseases10040095
{Abstract}: Miller-Dieker syndrome (MDS) is a rare genetic disorder characterized by congenital lissencephaly (absent or diminished cerebral gyri), facial dysmorphisms, neurodevelopmental retardation, intrauterine fetal demise, and death in early infancy or childhood. We present a case of a 4-year-old girl with MDS (17p13.3p13.2 deletion) who was admitted to the hospital due to fever and increased secretions from her nose, mouth, and tracheostomy tube (as she had been on a ventilator and G-tube dependent since birth). During the course of hospitalization, she developed multiorgan failure, third spacing, and significant lactic acidosis. The patient had a cardiorespiratory arrest and expired after 4 months and 8 days of hospitalization. We provide a synopsis of the main autopsy findings, with a focus on the neuropathologic anomalies.