Neuropathology of Septo-optic Dysplasia: A Report of 4 Autopsy Cases
| Autor: | Jessica Blackburn, Diana L Thomas, Christopher R. Pierson, Anna Hughes |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Autopsy Neuropathology 030218 nuclear medicine & medical imaging 03 medical and health sciences 0302 clinical medicine Septo-Optic Dysplasia medicine Humans Child Retrospective Studies Optic nerve hypoplasia business.industry Brain Infant Septo-optic dysplasia Absent septum pellucidum medicine.disease Dysplasia Child Preschool Pediatrics Perinatology and Child Health Neurology (clinical) Pituitary dysfunction business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Child Neurology. 36:105-115 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/0883073820954071 |
| Popis: | Septo-optic dysplasia (SOD) is defined by the presence of 2 or more features in a diagnostic triad: (1) optic nerve hypoplasia, (2) pituitary dysfunction, and (3) midline forebrain anomalies. SOD arises due to diverse pathogenetic mechanisms including acquired and genetic factors, and it shows considerable clinical and phenotypic variability. Our knowledge of SOD is incomplete in part because of a paucity of published neuropathology data, so we reviewed the autopsy neuropathology of 4 SOD patients. All patients met SOD criteria according to the triad. Additional neuropathologic findings included malformations involving non-forebrain structures and possible secondary phenomena. Autopsies demonstrate that SOD patients often have additional neuropathologic findings beyond the triad and we feel that use of the term SOD-complex appropriately underscores this diversity and its likely clinical impact. This study suggests that autopsies enhance our understanding of SOD and may be an asset in performing needed clinical and phenotypic correlation studies. |
| Databáze: | OpenAIRE |
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