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.

Details

Title
RETRACTED: Histopathologic Findings Associated with Miller–Dieker Syndrome: An Autopsy Report
Author
Bahmad, Hisham F 1   VIAFID ORCID Logo  ; Ramesar, Lauren 2 ; Nosti, Cecilia 2 ; Anthonio, Gameli 2 ; Brathwaite, Carole 3 ; Vincentelli, Cristina 4 ; Castellano-Sánchez, Amilcar A 4 ; Poppiti, Robert 4 

1  Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA; [email protected] (C.V.); [email protected] (A.A.C.-S.); [email protected] (R.P.) 
2  Department of Translational Medicine, Herbert Wertheim College of Medicine, Florida International University, Miami, FL 33199, USA; [email protected] (L.R.); [email protected] (C.N.); [email protected] (G.A.) 
3  Department of Pathology, Nicklaus Children’s Hospital, Miami, FL 33155, USA; [email protected] 
4  Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA; [email protected] (C.V.); [email protected] (A.A.C.-S.); [email protected] (R.P.); Department of Translational Medicine, Herbert Wertheim College of Medicine, Florida International University, Miami, FL 33199, USA; [email protected] (L.R.); [email protected] (C.N.); [email protected] (G.A.) 
First page
95
Publication year
2022
Publication date
2022
Publisher
MDPI AG
e-ISSN
20799721
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.3390/diseases10040095
ProQuest document ID
2756682879
Copyright
© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.