Category: Clinical Science
At the end of the session, participants will be able to:
- To recognize the features of the complex discussed
- To understand some features that indicate the likely disruptive nature of the pathogenesis
COI Disclosure:
I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose.
Presenter
Patrick Shannon is a pathologist at Mount Sinai Hospital, Toronto.
Patrick Shannon1, Yael Fisher2, Elka Miller3, Shiri Shinar4, Vivek Pai3, David Chitayat4
1Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto
2Department of Pathology, Rambam Health Care Campus, Haifa
3Department of Diagnostic & Interventional Radiology, Hospital for Sick Children, Toronto,
4Department of Obstetrics and Gynaecology, Mount Sinai Hospital, Toronto
Target Audience:
Residents
CanMEDS:
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis is most likely disruptive in origin; neuropathology and autopsy findings
Abstract
The complex of peritrigonal and temporo-occipital periventricular heterotopia with corpus callosal and cerebellar dysgenesis is a radiologically described suite of central nervous system anomalies; the distribution of lesions is hypothesised to correspond to an early developmental insult to the posterior circulation. To our knowledge, documentation of the central nervous system histopathology is strikingly limited. We review our autopsy experience with this entity. We used textword searches for “Nodular Heterotopia” and “Cerebellar hypoplasia” followed by manual autopsy report review of autopsy cases in our laboratory information system spanning the last 20 years. We identified and reviewed five fetal cases (gestational ages ranging from 25 to 21 weeks, Median =22.5 weeks) encountered at post-mortem with radiological, clinical and pathological correlation. All 5 demonstrated histological evidence of brain tissue injury, with features most compatible with post encephaloclastic changes to the cerebellum or brainstem in all 5 cases, cerebral transmantle glial seams in 4 cases, porencephaly in two cases and incipient polymicrogyria in three cases. Placental pathology showed significant disease in three cases, all with fetal vascular malperfusion, and one with significant villous dysmorphism). Other systemic findings at autopsy were unrevealing. We conclude that the pathology in all these cases is most compatible with a disruptive sequence, and that the abnormal development is often accompanied by post-encephaloclastic changes in the cerebrum, brainstem and cerebellum. Placental examination may further indicate microvascular disease. This pathology confirms the hypothesised disruptive origin of this condition and clarifies the cerebellar pathology.