Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report.
Hisham F BahmadLauren RamesarCecilia NostiGameli AnthonioCarole BrathwaiteCristina VincentelliAmilcar A Castellano-SánchezRobert PoppitiPublished in: Diseases (Basel, Switzerland) (2022)
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.
Keyphrases
- case report
- mechanical ventilation
- healthcare
- acute respiratory distress syndrome
- subarachnoid hemorrhage
- body composition
- high intensity
- genome wide
- emergency department
- intensive care unit
- weight gain
- early life
- cell proliferation
- physical activity
- gestational age
- preterm birth
- extracorporeal membrane oxygenation