RETRACTED: Bahmad et al. Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report. Diseases 2022, 10, 95.

The Journal retracts the article, Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report [...].

Maintenance Electroconvulsive Therapy, Developmental Regression, Depression and Catatonia in an Adolescent With Down Syndrome: A Case Report.

This is a case report involving a 22-year-old male with a past medical history of Down syndrome and major depressive disorder who, at age 16, became preoccupied with returning to an infant-like state. He experienced a gradual deterioration in his mood over a year and began to show symptoms consistent with catatonia. These symptoms included waxy flexibility, hypokinesis, decreased appetite, mutism, and altered sleep habits. Pharmacologic therapy was initiated, and the patient experienced a waxing and waning pattern of improvement and regression. Over several years, various combinations of antidepressants, benzodiazepines, and second-generation antipsychotics were attempted. The patient and his family discontinued all medications except his benzodiazepine in early 2019 and decided to try electroconvulsive therapy (ECT). After more than 100 sessions of ECT between 2019 and 2022, the patient showed notable improvement in overall mood, and his appetite and sleep completely returned to baseline. His speech, affect, and movement also improved. With ECT, the patient showed the most sustained and substantial improvement in his catatonic symptoms. ECT has been historically shown to improve these types of symptoms in catatonic patients, including those who have Down syndrome. Often, clinicians do not consider the possibility of catatonia in patients with this type of presentation, which is unfortunate as misdiagnosis leads to increased morbidity. Additionally, there has not been much discussion of the optimal length of treatment and the necessity of slowly tapered maintenance therapy in the literature. This case report illustrates how catatonia can be a major cause of developmental regression in patients with Down syndrome and offers an example of a promising management strategy for the treatment of this condition.

Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report.

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.