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New neurological findings in trisomy 13
Archives of Pathology & Laboratory Medicine
|October 1, 1977
Summary
This case report details a patient with trisomy 13, presenting classic neuropathologic features and novel findings like cochlear nuclei herniation and arteriovenous malformations. These observations expand our understanding of trisomy 13 neuropathology.
Area of Science:
- Neuropathology
- Genetics
- Developmental Biology
Background:
- Trisomy 13 (Patau syndrome) is a severe chromosomal disorder associated with multiple congenital anomalies.
- Neuropathologic findings in trisomy 13 are well-documented but can exhibit variability.
- This report focuses on a specific case to highlight both characteristic and potentially new neuropathologic features.
Observation:
- The patient exhibited classic neuropathologic stigmata of trisomy 13, including retinal dysplasia, arrhinencephaly, holoprosencephaly, single external nare, granular cell heterotopias in the cerebellum, and microphthalmia.
- Novel neuropathologic findings identified in this case included bilateral herniation of cochlear nuclei, gray matter in the eleventh cranial nerve, arteriovenous malformations, arachnoid cyst at the cauda equina, and retinal pigment epithelium within the optic nerve.
Findings:
- The neuropathologic examination revealed a combination of expected and previously unreported findings in trisomy 13.
- Specific novel findings include herniation of cochlear nuclei, ectopic gray matter, vascular malformations, and aberrant tissue presence within the optic nerve.
Implications:
- This detailed neuropathologic description contributes to the spectrum of known anomalies in trisomy 13.
- The identification of new findings may prompt further research into the developmental mechanisms underlying trisomy 13.
- Such detailed case reports are crucial for refining diagnostic criteria and understanding the full phenotypic expression of chromosomal abnormalities.