Septo-optic dysplasia: an autopsy study of a 23-week fetus

Jethwani, Dilip; Mahadevan, Anita; Ramamurthy, BS; Mangala, R.; Shankar, S K

doi:10.5414/np300409

Cited by 1 publication

(3 citation statements)

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“…The corpus callosum was uniformly thin in 3 cases and focally thin in 1, which has been reported. 14,20,23,25,27 Cerebral white matter volume, especially intragyral white matter, appeared reduced in our cases. 25 Two of our cases had small optic radiations stemming from the pronounced neuronal loss we observed in the lateral geniculate nuclei.…”

Section: Discussionsupporting

confidence: 42%

“…14,21 The cause of the reduced white matter volume is unclear and it was accompanied by enlargement of the third ventricle and/ or lateral ventricles so a gradual loss of white matter is suspected. 20,23,25,27 All 4 of our cases showed subependymal gliosis suggesting that increased ventricular pressure or some other injury occurred. 21,23…”

Section: Discussionmentioning

confidence: 62%

“…14,21,23 The hypothalami were small in all cases and some showed partial fusion across the midline, and 1 case also showed thalamic fusion. 14,20 -22,25,27 Additional midline defects were evident at autopsy, including 2 cases with septal agenesis, whereas 2 others had a rudimentary septum. In 1 case, the ventral forebrain structures appeared partially fused.…”

Section: Discussionmentioning

confidence: 99%

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Neuropathology of Septo-optic Dysplasia: A Report of 4 Autopsy Cases

et al. 2020

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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.

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