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Macroscopical observations on a human anencephalous fetus with multiple malformations (author's transl)
[Hokkaido Igaku Zasshi] the Hokkaido Journal of Medical Science
|November 1, 1978
Summary
This report details a rare case of an anencephalous fetus with craniorrhachischisis and multiple congenital anomalies. Findings highlight the extensive impact of anencephaly on both ectodermal and mesodermal structures.
Area of Science:
- Developmental biology
- Teratology
- Human embryology
Background:
- Anencephaly is a severe neural tube defect characterized by the absence of a major portion of the brain, skull, and scalp.
- Autopsied cases of anencephaly are rare, making detailed anatomical studies crucial for understanding its pathogenesis.
- This report presents a comprehensive examination of a stillborn anencephalous fetus with extensive craniorrhachischisis and associated malformations.
Observation:
- The fetus exhibited craniorrhachischisis, cleft palate, left-sided congenital diaphragmatic hernia, lung hypoplasia, imperforate vagina and anus, absent left kidney, and left sternal muscle agenesis.
- Significant malformations were observed in the thoracic and lumbar vertebral column, with twisting of the lumbar spine and absence of the left posterior abdominal wall.
- Congenital diaphragmatic hernia resulted in the protrusion of abdominal viscera into the left pleural cavity.
- Abnormalities in the nervous system included fused spinal ganglia and atypical nerve plexus formations.
Findings:
- The case aligns with NANAGAS's classification of Anencephalus craniorrhachischisis.
- Vertebral column malformations impacted rib development and abdominal wall integrity.
- The congenital diaphragmatic hernia involved the persistent left pleuroperitoneal canal, with herniation of the cecum, appendix, colon, spleen, and pancreas.
- Spinal nerve ganglia were fused into eight masses, with complex communication patterns between thoracic, lumbar, and sacral nerves and their plexuses.
Implications:
- The extensive mesodermal anomalies observed underscore the need to investigate these structures in anencephaly research.
- Understanding the topographical relationships of affected organs provides insights into the developmental cascade of anencephaly.
- Further research into both ectodermal and mesodermal factors is recommended to elucidate the genesis of anencephaly.