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Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report
Hisham F Bahmad1, Lauren Ramesar2, Cecilia Nosti2
1Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA.
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.
Insights
Miller-Dieker syndrome (MDS) is a rare genetic disorder. This case study details a 4-year-old girl with MDS who experienced multiorgan failure and expired after prolonged hospitalization, highlighting neuropathologic anomalies.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Miller-Dieker syndrome (MDS) is a rare genetic disorder characterized by lissencephaly, facial dysmorphisms, and severe neurodevelopmental issues.
- MDS is typically caused by a deletion in the 17p13.3 region of chromosome 17.
Observation:
- A 4-year-old girl with a 17p13.3p13.2 deletion, diagnosed with MDS, was hospitalized for fever and increased secretions.
- The patient required mechanical ventilation and G-tube support from birth due to her condition.
Findings:
- During hospitalization, the patient developed multiorgan failure, third spacing, and lactic acidosis.
- She experienced cardiorespiratory arrest and expired after 4 months and 8 days of hospitalization.
- Autopsy findings focused on significant neuropathologic anomalies consistent with MDS.
Implications:
- This case underscores the severe and often fatal progression of Miller-Dieker syndrome.
- Detailed autopsy findings contribute to understanding the neuropathology of MDS.
- Highlights the critical care needs and complex medical management required for patients with MDS.
