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CASE REPORT
Year : 2014  |  Volume : 41  |  Issue : 3  |  Page : 206-207

Craniospinal rachischisis with multiple anomalies in an anencephalic fetus: A rare case report


Department of Pathology, J.N. Medical College, Belgaum, Karnataka, India

Date of Web Publication19-Sep-2014

Correspondence Address:
Hema Basappa Bannur
J.N. Medical College, Belgaum - 590 010, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-5009.141242

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  Abstract 

Neural tube defects (NTDs) are the most common malformations accounting for 0.5-1.3 cases/1000 live births with multifactorial etiology. Anencephaly and craniospinal rachischisis are open NTDs. Associated malformations are noted in anencephaly, indicating some etiological heterogeneity. Here, we report an anencephalic fetus with craniospinal rachischisis and multiple other anomalies.

Keywords: Anencephaly, craniospinal, neural tube defects, rachischisis


How to cite this article:
Bannur HB, Suranagi VV, Davanageri R, Pilli GS. Craniospinal rachischisis with multiple anomalies in an anencephalic fetus: A rare case report. J Sci Soc 2014;41:206-7

How to cite this URL:
Bannur HB, Suranagi VV, Davanageri R, Pilli GS. Craniospinal rachischisis with multiple anomalies in an anencephalic fetus: A rare case report. J Sci Soc [serial online] 2014 [cited 2020 May 28];41:206-7. Available from: http://www.jscisociety.com/text.asp?2014/41/3/206/141242


  Introduction Top


Neural tube defects (NTDs) are a group of severe congenital abnormalities resulting from the failure of neurulation of multifactorial etiology around the 28 th day of conception. The most common NTD is anencephaly, which affects the development of the brain and often the spinal cord. It is associated with other systemic anomalies. The baby is either stillborn or dies within a few hours to days of birth. Antenatal diagnosis is possible by fetal ultrasonography and by assays of α-fetoprotein or acetylcholinesterase, which is increased in maternal serum and amniotic fluid. [1] Anencephaly and craniospinal rachischisis are incompatible with life. Genetic counseling is advised as the risk of recurrence of NTDs in those who have a first degree relative is 5-10 times greater than in the general population.


  Case report Top


Received a 30 weeks fetus for autopsy. Antenatal ultrasound had detected anencephaly, so termination was induced and the fetus was expelled after 10 h. Infantogram revealed thoracic hemivertebrae, kyphoscoliosis, and undeveloped vault of the skull. The autopsy findings were - umbilicus showed single umbilical artery. The face showed typical batrachian phenotype [Figure 1]. The scalp, calvarium and normal brain were absent, replaced by an angiomatous mass. The base of the skull was coarse and flattened. Dorsally, the skin was deficient over the ill-developed vertebrae exposing the spinal cord-craniospinal rachischisis [Figure 2]. On dissection, there was left diaphragmatic hernia with spleen, coils of the small intestine and part of the large intestine in the left hemithorax pushing both the lungs and heart to the right hemithorax [Figure 3]. Abdomen showed liver in the left hypochondrium, both the kidneys fused at the pelvis and absent adrenals. Histological examination of the angiomatous mass showed cystically dilated vascular spaces; hypoplastic lungs; extramedullary hemopoiesis in the liver and spleen and congested kidneys. Hence, a diagnosis of craniospinal rachischisis in an anencephalic fetus with multiple anomalies was offered. Genetic studies were not undertaken on the fetal samples.
Figure 1: Anterior aspect of the anencephalic fetus showing batrachian phenotype

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Figure 2: Dorsal view showing craniospinal rachischisis

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Figure 3: In situ examination showing le�� diaphragmatic hernia

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  Discussion Top


Craniospinal rachischisis is the failure of closure of most or all the neuraxis resulting in an absence/exposure of major portions of the brain and spinal cord. [2] It is associated with anencephaly, where there will be the complete absence of the brain and overlying skull. The brain is replaced by a highly vascular disorganized film of tissue called the area cerebrovasculosa. This substance remains after degeneration of the brain tissue at the "open" edges of the defect because of direct contact between the neural epithelium and amniotic fluid. The incidence of anencephaly is 0.1-0.7/1000 live births. There is increased risk if a sibling is affected. Male to female ratio is 1:3-1:7. It is associated with maternal diabetes, hyperthermia, anticonvulsant therapy. Risk is reduced by periconceptional folate supplementation. [3] The highest incidence is in Great Britain and Ireland and the lowest incidence is in Asia, Africa, and South America. [1] It occurs between the 3 rd and 4 th week of gestation (23 rd and 26 th embryonic day). [4] In India, the incidence of congenital malformations varies from 0.3% to 3.6%, respectively. [5] Central nervous system defects have been reported to be highest in the Indian subcontinent. [6] Associated malformations such as hydronephrosis, cleft lip, diaphragmatic hernia, exomphalos, hare lip and horse shoe kidney have been reported. [7] The present case had craniospinal rachischisis, diaphragmatic hernia, horseshoe kidney with absent adrenal glands and single umbilical artery. Recurrence risk of anencephaly is 3-5%. Antenatal ultrasound and elevated serum α-fetoprotein or acetylcholinesterase help in early detection of the anomaly.

 
  References Top

1.Moscoso G. Congenital structural defects of the brain. In: Levene IM, Chevvenak FA, editors. Fetal and Neonatal Neurolofy and Neurosurgery. 4 th ed. Edinburgh: Churchill Livingstone; 2008. p. 224-37.  Back to cited text no. 1
    
2.Yachnis AF, Rivera-Zengotita ML. Neuropathology: A Volume in the High Yield Series. Philadelphia: Saunders Elsevier Health Sciences; 2013. p. 10.  Back to cited text no. 2
    
3.Prayson RA. Neuropathology: A Volume in the Series: Foundations in Diagnostic Pathology. 2 nd ed. Philadelphia: Saunders Elsevier Health Sciences; 2012. p. 101-3.  Back to cited text no. 3
    
4.Eslavath A, Diddi RR, Valabhaneni KC. Anencephaly: A 3 Years Study. IOSR J Dent Med Sci 2013;12:12-5.  Back to cited text no. 4
    
5.Verma IC, Mathew AR. Congenital malformation in India. In: Sathyawati GV, editor. Peoples of India, Some Genetic Aspects. New Delhi: ICMR;1983. p. 70.  Back to cited text no. 5
    
6.Kalra A, Kalra K, Sharma V, Singh M, Dayal RS. Congenital malformations. Indian Pediatr 1984;21:945-50.  Back to cited text no. 6
[PUBMED]    
7.David TJ, Nixon A. Congenital malformations associated with anencephaly and iniencephaly. J Med Genet 1976;13:263-5.  Back to cited text no. 7
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    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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