%0 Case Reports
%T Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report.
%A Bahmad HF
%A Ramesar L
%A Nosti C
%A Anthonio G
%A Brathwaite C
%A Vincentelli C
%A Castellano-Sánchez AA
%A Poppiti R
%J Diseases
%V 10
%N 4
%D Nov 2022 1
%M 36412589
暂无%R 10.3390/diseases10040095
%X 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.