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 Table of Contents  
CASE REPORT
Year : 2019  |  Volume : 52  |  Issue : 6  |  Page : 235-238

Sacrococcygeal teratoma with unilateral renal agenesis, spinal dysraphism, lumbar hernia, CTEV and natal teeth


Department of Paediatric Surgery, SMS Medical College, Jaipur, Rajasthan, India

Date of Submission20-Jun-2019
Date of Decision24-Jul-2019
Date of Acceptance18-Sep-2019
Date of Web Publication05-Dec-2019

Correspondence Address:
Dr. Rahul Gupta
Department of Paediatric Surgery, SMS Medical College, Jaipur, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/fjs.fjs_51_19

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  Abstract 


We report a unique case of unilateral renal agenesis, spinal dysraphism, lumbar hernia, congenital talipes equino varus, and natal teeth associated with sacrococcygeal teratoma (SCT). The occurrence of this rare association in a neonate has not been reported in the literature. The theory of defective mesenchymal precursor cells from primitive node may explain the presence of associated malformations (related to defective mesenchyme) and presence of SCT.

Keywords: Association, lumbar hernia, natal teeth, sacrococcygeal teratoma, spinal dysraphism, unilateral renal agenesis


How to cite this article:
Gupta R, Gupta AK. Sacrococcygeal teratoma with unilateral renal agenesis, spinal dysraphism, lumbar hernia, CTEV and natal teeth. Formos J Surg 2019;52:235-8

How to cite this URL:
Gupta R, Gupta AK. Sacrococcygeal teratoma with unilateral renal agenesis, spinal dysraphism, lumbar hernia, CTEV and natal teeth. Formos J Surg [serial online] 2019 [cited 2020 Jul 2];52:235-8. Available from: http://www.e-fjs.org/text.asp?2019/52/6/235/272318




  Introduction Top


Sacrococcygeal teratoma (SCT) is the most common congenital tumor in the newborn.[1] Presence of unilateral renal agenesis (URA) with associated SCT has been reported only once in the medical literature till date.[2] We present herein rare association of unilateral renal agenesis, spinal dysraphism, lumbar hernia, congenital talipes equino varus (CTEV), and natal teeth associated with SCT in a male neonate which has not been reported previously. We also explain the possible embryopathogenesis of this rare association in our patient.


  Case Report Top


A 26-day-old male baby, weighing 2400 g presented to pediatric surgery department with a sacrococcygeal lump along with swelling in the left lumbar region [Figure 1]. The child was born at term by vaginal delivery, third in birth order, and born to nonconsanguineous parents. There was no previous maternal medical ailment and antenatal history was unremarkable. There was no evidence of congenital malformation in the family. The maternal prenatal ultrasonography (USG) was not performed due to resource limitations and noncompliance of the mother in the prenatal period.
Figure 1: Preoperative photographs showing (a) left lumbar hernia (red arrow); and (b and c) 4 cm × 3.5 cm ulcerated sacrococcygeal teratoma (blue arrow) and 5 cm × 3 cm × 2.5 cm left lumbar hernia (red arrow)

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On general examination, the patient was stable, mildly dehydrated with respiratory rate of 40/min and pulse rate of 140/min. There was no facial dysmorphism. Two natal teeth were seen along with ulceration of under surface of tongue [Figure 2]. Abdominal examination revealed a 5 cm × 3 cm × 2.5 cm soft, nontender, reducible swelling suggestive of the left lumbar hernia [Figure 1]. Perineal examination revealed a 4 cm ×3.5 cm mixed (soft to firm) consistency, nonfluctuant, ulcerated (1 cm ×1 cm) swelling (infected) suggestive of SCT [Figure 1]. Both feet had CTEV deformity with right more than left [Figure 2]. There was no apparent spinal abnormality [Figure 1].
Figure 2: Preoperative photograph showing (a) natal teeth were with ulceration of under surface of tongue and (b) congenital talipes equino varus of right foot (red arrow)

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Baseline blood investigations revealed Hb of 15.6 g%, total leukocyte count of 13,200, with raised serum urea levels (47 mg/dl), and INR of 1.31. Serum electrolytes, calcium, and other biochemical parameters were normal. Serum alpha-fetoprotein (AFP) levels were 356.2 IU/ml. USG of the swelling revealed SCT and abdominal USG revealed nonvisualization of right kidney; cranial USG was normal. Computed tomography (CT) abdomen showed heterogeneously enhancing soft-tissue density mass arising from the coccyx confirming Altman's Type 1 SCT and right renal agenesis [Figure 3]; CT spine revealed hemi vertebra and partial fusion of lumbar spine and posterior neural arch defects [Figure 3] and [Figure 4]. Spinal dysraphism was also present in the lower cervical spine [Figure 4].
Figure 3: Computed tomography abdomen showing unilateral (right) renal agenesis (yellow arrow, A1 and B1); also seen are hemi vertebra and partial fusion of lumbar spine (A1). A heterogeneously enhancing soft tissue density mass is arising from the coccyx (red arrow, C1)

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Figure 4: Computed tomography spine showing (a) posterior neural arch defects (red arrow) and (b) hemi vertebra (red arrow)

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A diagnosis of SCT with unilateral (right) renal agenesis, spinal dysraphism, left lumbar hernia, CTEV, and natal teeth was made. The patient was stabilized, supportive care and preoperative optimization was commenced. En bloc complete excision of SCT with coccygectomy was performed by bilateral chevron incision. Specimen [Figure 5] was sent for histopathological examination which revealed immature Grade 1 teratoma. Postoperative course was uneventful. CTEV is being treated by Ponseti method (casting phase). The patient is being followed up with serial monitoring of AFP levels and ultrasound scans.
Figure 5: Excised specimen of sacrococcygeal teratoma showing (a) ulcerated and infected ulcer (orange arrow) and (b) specimen with coccyx

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  Discussion Top


Congenital URA is rare and is an incidental finding on radiological imaging. It was seen in 0.93–1.8/1000 autopsies.[2] Male-to-female ratio is 1.8.[3] Left kidney is more frequently involved than right.[2] Right kidney was involved in present case and also in a previous rare association of URA with SCT.[2] URA is frequently associated with other genitourinary anomalies in both females (37%–60%) and males.[2] Associated urological anomalies are absent ureter, vesicoureteral reflux, and ureterovesical and ureteropelvic junction obstruction. The other organ systems involved are skeletal, gastrointestinal, and cardiovascular abnormalities.

Association of URA with Type 4 SCT in a female child has been reported only once in the literature.[2] The occurrence of rare association of URA, spinal dysraphism, lumbar hernia, CTEV, and natal teeth associated with SCT in a male neonate has not reported previously.

SCT is the most common (1:40,000 live births) germ cell tumor in newborns usually presenting with large, predominantly external lesions at birth. They have a female predominance (F:M ratio = 3–4:1).[1] Most of the SCTs are benign and cystic and only 1%–2% are malignant.[1],[2] SCTs are classified into four types according to Altman classification.[1] Our case was Altman's Type 1 (the most common type) having predominantly external component projecting from the sacrococcygeal region; there was absence of intrapelvic component as suggested by absence of pelvic component in USG.[1] CT also confirmed SCT Type I.

SCT may be associated with vertebral (80%),[4] anorectal, and urogenital anomalies (12% in females).[5] Currarino's syndrome is triad of anorectal malformation (ARM), sacral dysplasia, and presacral mass.[6] Association of spinal dysraphism with SCT has been reported rarely.[7] The treatment SCT is early, en bloc complete tumor excision with coccygectomy, followed by a meticulous, extensive microscopic examination for ruling out malignant foci in the tumor.[2] Deep pelvic fascial injury must be prevented for good functional outcomes of the bladder and anal canal. Prognosis depends upon the size, Altman's type, and age at diagnosis (treatment), incomplete surgical excision with the presence of microscopic residues, tumor spillage, coccygectomy, and histological type.[1],[2],[6]

Embryological association

SCT is believed to arise from embryologically multipotent cells of Hensen's node, which lies within the coccyx.[8] Growth of these primitive pleuripotential cells escapes the control of embryonic inductors and organizers, resulting in development of teratoma.[8] Association of SCT with ARM has been proposed to be due to physical presence of tumor preventing descent and fusion of the urorectal septum to the cloacal membrane, resulting in a high ARM.[9] This theory fails to explain the presence of low ARM seen with SCT. The theory of defective mesenchymal precursor cells (proliferation, migration, and differentiation) from primitive node may explain the presence of associated malformations (related to defective mesenchyme) and presence of SCT.[10]

Mesenchymal (epiblasts) precursor cells migrating from primitive node and proximal part of primitive streak lead to the formation of notochord, paraxial and intermediate plate mesoderm.[10] It is believed that the disruption occurs in the proliferation, migration, and differentiation of the mesoderm, leading to the different malformations including that of the VACTERL spectrum.[10] Furthermore, URA results when ureteric bud either fails to develop or fails to interact with the ipsilateral metanephric blastema.[2] Lumbar hernia is also due to defective mesenchyme in the lumbar region. Failure of some of these epiblasts cells to migrate from primitive node will lead to remnants at primitive streak which may persist in sacrococcygeal region as a teratoma.[10] We propose that rare association of SCT with other malformations may be more than a chance association in our patient.


  Conclusion Top


Our case is a unique association of URA, spinal dysraphism, lumbar hernia, CTEV, and natal teeth associated with SCT. The theory of defective mesenchymal precursor cells from primitive node may explain the presence of associated malformations (related to defective mesenchyme) and presence of SCT.

Declaration of patient consent

The authors certify that they have obtained all appropriate guardians' consent forms. In the form the guardians have given their consent for the images and other clinical information to be reported in the journal. The guardians understand that the names and initials will not be published and due efforts will be made to conceal their children's identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Altman RP, Randolph JG, Lilly JR. Sacrococcygeal teratoma: American academy of pediatrics surgical section survey-1973. J Pediatr Surg 1974;9:389-98.  Back to cited text no. 1
    
2.
Ahmed MS, Imtiaz S, Pathan H, Usman R. Unilateral renal agenesis with subseptate uterus and sacrococcygeal teratoma: A unique triad. Indian J Radiol Imaging 2017;27:298-301.  Back to cited text no. 2
[PUBMED]  [Full text]  
3.
Barakat AJ. Association of unilateral renal agenesis and genital anomalies. Case Rep Clin Pract Rev 2002;3:57-60.  Back to cited text no. 3
    
4.
Lahdenne P, Heikinheimo M, Jääskeläinen J, Merikanto J, Heikkilä J, Siimes MA. Vertebral abnormalities associated with congenital sacrococcygeal teratomas. J Pediatr Orthop 1991;11:603-7.  Back to cited text no. 4
    
5.
Shalaby MS, O'Toole S, Driver C, Bradnock T, Lam J, Carachi R, et al. Urogenital anomalies in girls with sacrococcygeal teratoma: A commonly missed association. J Pediatr Surg 2012;47:371-4.  Back to cited text no. 5
    
6.
Gupta R, Sharma SB, Mathur P, Goyal RB. Variants of currarino syndrome: Embryological association and review of pertinent literature. Int J Embryol [Internet] 2014;2014:1-5. Available from: http://www.hindawi.com/journals/ijembry/2014/636375/. [last accessed 2019 Jun 20].  Back to cited text no. 6
    
7.
Sivrikoz TS, Has R, Esmer AC, Kalelioglu I, Yuksel A, Taskin OC. Prenatal diagnosis of tethered spinal cord associated with sacrococcygeal teratoma. J Clin Ultrasound 2016;44:506-9.  Back to cited text no. 7
    
8.
Schey WL, Shkolnik A, White H. Clinical and radiographic considerations of sacrococcygeal teratomas: An analysis of 26 new cases and review of the literature. Radiology 1977;125:189-95.  Back to cited text no. 8
    
9.
Subbarao P, Bhatnagar V, Mitra DK. The association of sacrococcygeal teratoma with high anorectal and genital malformations. Aust N Z J Surg 1994;64:214-5.  Back to cited text no. 9
    
10.
Gupta R, Chaturvedi V. VACTERL association with sacrococcygeal teratoma. Indian Pediatr 2016;53:746-7.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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Abstract
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Case Report
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