The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series

Abstract

1p36 deletion syndrome is the most common terminal deletion syndrome, manifesting clinically as abnormal facies and developmental delay with frequent cardiac, skeletal, urogenital, and renal abnormalities. Limited autopsy case reports describe the neuropathology of 1p36 deletion syndrome. The most extensive single case report described a spectrum of abnormalities, mostly related to abnormal neuronal migration. We report the largest published series of 1p36 autopsy cases, with an emphasis on neuropathologic findings. Our series consists of 3 patients: 2 infants (5-hours old and 23-days old) and 1 older child (11 years). Our patients showed abnormal cortical gyration together with a spectrum of neuronal migration abnormalities, including heterotopias and hippocampal abnormalities, as well as cerebellar hypoplasia. Our findings thus support the role of neuronal migration defects in the pathogenesis of cognitive defects in 1p36 deletion syndrome and broaden the reported neuropathologic spectrum of this common syndrome.

Neurohistopathological Findings of the Brain Parenchyma After Long-Term Deep Brain Stimulation: Case Series and Systematic Literature Review

“…Tissue processing was done as previously described. [13][14][15] Briefly, brains were fixed in 20% neutral buffered formalin for 10-14 days and then sectioned, sampled, processed, and stained (both histochemical and immunohistochemical stains) in the Emory Warner Clinical Pathology Laboratories of the University of Iowa according to standard protocols. A board-certified neuropathologist (MMH) and PhD-trained research neuropathologist (KLF) reviewed all tissue sections and stains.…”