Craniorachischisis Totalis: A Necropsy Analysis

Authors

  • Praveen Arora Assistant Professor, Department of Forensic Medicine and Toxicology, Chirayu Medical College and Hospital, Bhopal-462030, MP
  • Manik Sirpurkar Associate Professor, Department of Obstetrics and Gynecology, Chirayu Medical College and Hospital, Bhopal, M.P., India
  • Lata Khanzode Professor and Head, Department of Anatomy, Chirayu Medical College and Hospital, Bhopal, M.P., India

DOI:

https://doi.org/10.48165/

Keywords:

Craniorachischisis totalis, Neural tube defects, Anencephaly, Spina bifida aperta, Congenital anomalies, Folic acid deficiency

Abstract

Neural tube defects are common congenital anomalies seen most commonly among population of low socio-economic status. These anomalies range from spina bifida occulta to craniorachischisis totalis and iniencephaly, which are very rare conditions. In many cases neural tube defects are associated with other malformations. Neural Tube Defects are seen mostly affecting first pregnancy. Neural Tube Defects are seen in all corners of the world. India also has quite high incidence, and in many cases it is due to folic acid deficiency. Here we present a case of Craniorachischisis totalis (Anencephaly with spina bifida aperta) in a 32 week gestation male fetus, born as fourth child to a Muslim mother. Academic autopsy was performed to see the presence of other associated congenital malformations, if any. 

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References

1. David TJ, McCrae FC, Bound JP. Congenital malformations associated with anencephaly in the Fylde peninsula of Lancashire. J Med Genet 1983; 20: 338-41.

2. Department of Health. Report from an Expert Advisory Group. Folic acid and the prevention of neural tube defects. London: Department of Health, 1992.

3. Berry JR, Ericson D, Li S, Moore LA. Prevention of neural tube defects with folic acid in China. N England J Med 1999; 341: 3485-90.

4. Verma IC. Burden of genetic disorders in India. Ind J Pediatrics 2000; 67: 893-98.

5. Gupta H, Gupta P. Neural tube defects and folic acid. Indian Pediatrics 2004; 41: 577-86.

6. Lammer EJ, Sever LE, Oakley GP Jr. Teratogen update: valproic acid. Teratology 1987; 35(3): 465-73.

7. Shibya K, Murray CJI. Congenital anomalies. In: Murray CJL, Lopez AD, editors. Health Divisions of Sex and Reproduction: The Global Burden of Sexually Transmitted Diseases, HIV, Maternal Conditions, Perinatal Disorders and Congenital Anomalies. Vol 3. Boston: Harvard University Press. 1998; pp-455-512.

8. Hall JG, Sollehhdin F. Genetics of neural tube defects. Mental Retard Div Disabil 1999; 4: 269-81.

9. Cragan JD, Roberts HE, Edmonds LD. Surveillance for anencephaly and spina bifida and impact of prenatal diagnosis United States. 1985-1994. Mortal Morb Wkly Rep 1995; 44: 1-13.

10. Dutta AK. Essentials of human embryology. 5th edition. Kolkata: Current Books International. May 2005; 38-39: 277.

11. Halder A, Pahi J, Chaddha V, Agarwal SS. Sirenomelia sequence associated with Craniorachischisis totalis, limb reduction and primitive heart. Indian Pediatrics 2001; 38: 1041-45.

12. Naveen NS, Murlimanju, Vishal K and Maligi AM. Craniorachischisis Totalis. J Neurosci Rural Prac 2010; 1(1): 54-55.

13. Campbell LR, Sohal GS. The pattern of neural tube defects created by secondary reopening of the neural tube. J Child Neurol 1990; 5: 336-40.

14. Marin-Padilla M. Clinical and experimental rachischisis. In:

Handbook of Clinical Neurology, Vol 32: Congenital Malformations of the Spine and Spinal Cord. Vinken PJ, Bruyn GW, Myrianthopoulos C (editors). Amsterdam: Elsevier 1978; pp-159-191.

15. Ranganath P, Pradhan M. Complete pentalogy of Cantrell with craniorachischisis: a case report. J Prenat Med 2012; 6(1): 10- 12.

16. Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. Am J Med Genet 1992; 42: 90–95.

17. Kapron C. Identification of the mouse Loop-tail gene: a model for human craniorachischisis. BioEssays 2002; 24(7): 580-83.

18. Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC. Human Neural Tube Defects: Developmental biology, epidemiology and genetics. Neurotoxicol Teratol 2005; 27(3): 515-24.

19. Van Allen MI, Kalousek DK, Chernoff GF, Juriloff D, Harris M, McGillivray BC, et al. Evidence for multi-site closure of the neural tube in humans. Am J Med Gen 1993; 47(5): 723- 43.

20. World Health Organization. Available at: http://www.who.int/ mediacentre/factsheets/fs370/en/

21. Moore CA. Classification of neural tube defects. In: Neural tube defects from origin to treatment. Diego F, Wyszynski (editors.). New York: Oxford University Press 2006; p-66.

22. Jones KL. Smith’s recognizable patterns of human malformation. 6th edn. Philadelphia: Saunders Elsevier 2006; 704.

23. Holmes LB, Driscoll SG, Atkins L. Etiologic heterogeneity of neural-tube defects. N Eng J Med 1976; 294: 365-69.

24. Elwood JM, Elwood JH. Epidemiology of anencephalus and spina bifida. Oxford: Oxford University Press. 1980; 24: 310.

25. Cunningham FG, Leveno KJ, Bloom SL, Houth JC, Gilstrap L, Wenstrom KD. Genetics. In: Williams’s Obstetrics. 22nd edition. New York: McGraw Hill. 2005; 285-12.

26. Pleydell MJ. Anencephaly and other congenital abnormalities an epidemiological study in Northampton shire. BMJ 1960; 30: 309-15.

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Published

2014-01-30

Issue

Vol. 11 No. 3&4 (2013): Indian Internet Journal of Forensic Medicine and Toxicology(Jul-Dec)

Section

Case Report

How to Cite

Craniorachischisis Totalis: A Necropsy Analysis . (2014). Indian Internet Journal of Forensic Medicine and Toxicology, 11(3&4), 105–111. https://doi.org/10.48165/