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NEUROIMAGE
Year : 2020  |  Volume : 68  |  Issue : 6  |  Page : 1506-1507

A Rare Case of Caudal Regression Syndrome


Department of Radiodiagnosis, Santokba Durlabhji Memorial Hospital (SDMH), Jaipur, Rajasthan, India

Date of Web Publication19-Dec-2020

Correspondence Address:
Dr. Krati Khandelwal
23 New MLA Colony, Jawahar Chowk, Bhopal - 462003, Madhya Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.304074

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How to cite this article:
Khandelwal K, Khandelwal G, Purohit S. A Rare Case of Caudal Regression Syndrome. Neurol India 2020;68:1506-7

How to cite this URL:
Khandelwal K, Khandelwal G, Purohit S. A Rare Case of Caudal Regression Syndrome. Neurol India [serial online] 2020 [cited 2021 Jan 23];68:1506-7. Available from: https://www.neurologyindia.com/text.asp?2020/68/6/1506/304074




A 2 months' old infant born to a 25-year-old woman was referred for evaluation of bilateral clubbed foots. The mother had history of a previous macrosomic child and was diagnosed as gestational diabetes in this pregnancy. The clinical examination of the infant showed bilateral talipes equinovarus. There was wasting of both proximal and distal muscles of legs and the buttocks were flattened.

The infantogram [Figure 1] show absence of sacral vertebrae and bilateral talipes equinovarus. The patient underwent magnetic resonance imaging (MRI) which demonstrated an abrupt termination of the spinal cord at the T12 level, with a wedge-shaped ending. Cauda equina nerve roots had a double-bundle arrangement [Figure 2]. Sacrococcygeal agenesis was also noted. No cord tethering was present. No terminal cord cyst or syrinx was seen. Features suggested group I caudal regression syndrome (CRS).MRI coronal Short Tau Inversion Recovery (STIR) sequence showed agenesis of right kidney[Figure 3].
Figure 1: Infantogram showing bilateral talipes equinovarus and absent sacrum

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Figure 2: MRI T2w sagittal image showing abrupt wedge-shaped termination of spinal cord

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Figure 3: MRI coronal STIR shows agenesis of right kidney

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CRS is a rare malformation, with an estimated incidence of 0.1-0.25:10,000 of normal pregnancies.[1] However, it occurs in about one in 350 infants of diabetic mothers, representing an increase of about 200 times. The orthopedic, gastrointestinal, genitourinary and cardiac anomalies are commonly seen with this condition.[1] However, due to recent advances in antenatal ultrasound techniques, full blown syndromes are rarely seen. In our case, total sacral agenesis is associated with unilateral renal aplasia and bilateral club foot.

CRS results from disturbed development of the caudal cell mass. The caudal cell mass gives rise to conus of the spinal cord, filum, and distal nerve roots via canalization and retrogressive differentiation.[2] It gives rise to lower spine and associated neural structures at the same time as primitive cloaca develops into anorectal and genitourinary structures.

CRSs manifestations range from absent coccyx as an isolated finding without neurologic sequelae, to sacral or lumbosacral agenesis. This is associated with high abrupt spinal cord termination. Based on position of conus, Pang[3] divided patients into two groups:

  • Group 1: Conus ends cephalic to the lower border of L1 vertebrae. In these patients, sacral deficit is large ending at or above S1 vertebrae.
  • Group 2: Conus ends caudal to the lower border of L1 vertebrae. In these patients, sacrum tends to be well-preserved with identifiable portions of S1 or lower vertebrae. Conus is elongated, stretched caudally and tethered by thick filum terminale (65%), terminal myelocystocoele (15%), terminal hydromyelia (10%), and transitional lipoma.


The most characteristic feature of the spinal cord terminus in CRS is the wedge-shaped cord terminus, that is the dorsal aspect of the cord extending more caudally than the ventral portion.[4] When this characteristic cord terminus is seen, imaging of the lower lumbar and sacral regions should be performed to verify the diagnosis of caudal regression. Severe sacral agenesis is associated with lower extremity neurologic compromise (motor deficit > sensory deficit), and severe bowel and bladder dysfunction.[5]

The associated orthopedic anomalies may range from deformities of feet, flexion contractures of hips and knees, dislocation of hips, kyphoscoliosis, pelvic deformity, absence of ribs, and sirenomyelia (fused lower extremities).[6] Affected infants may also have clubfeet or webbed skin on the back of the knees. In our patient, the first abnormality clinically noticed was bilateral talipes equinovarus.

Kidney abnormalities that occur in CRS are renal agenesis, renal ectopia, malrotated kidney, fused ureters resulting in urinary obstruction, neurogenic bladder, vesicoureteral reflux, etc.[7] If caudal regression is associated with bilateral renal agenesis, the defect is lethal. Our patient had unilateral renal agenesis.

The syndrome has been shown to occur more frequently in the offspring of diabetic mothers. Altered oxidative metabolism from maternal diabetes may cause increased production of free oxygen radicals in the developing embryo which may be teratogenic. There may be an association between CRS and VACTERL defect (vertebral, anal, cardiac, tracheoesophageal fistula, renal, and limb) which supports the theory that these entities may be different manifestations of a single pathogenic process.

Early detection of CRS at 11 weeks of gestational age by transvaginal ultrasound scanning reported.[8] It is unfortunate in our case no antenatal scan done from beginning due to unknown reason indicating the necessity of educating diabetic mothers for early scans. Fetal MRI can also be used to make the diagnosis in difficult cases.[9] A couple of recent Indian case reports show how timely radiological diagnosis of CRS, made antenatally, lead to medical termination of pregnancy.[10],[11] The prognosis for children with CRS depends on the severity of the lesion and the presence of associated anomalies. Surviving infants have usually a normal mental function and they require extensive urologic and orthopedic assistance. Treatment is difficult, multidisciplinary, and largely supportive.

Declaration of patient consent

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

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Tortori-Donati P, Fondelli MP, Rossi A, Charles AR, Armando C, Valeria C. Segmental spinal dysgenesis: Neuro-radiologic findings with clinical and embryologic correlation. Am J Neuroradiol 1999;20:445-56.  Back to cited text no. 1
    
2.
Nievelstein RA, Valk J, Smit LM, Vermeij-Keers C. MRI of the caudal regression syndrome: Embryologic implications. Am J Neuroradiol 1994;15:1021-9.  Back to cited text no. 2
    
3.
Pang D. Sacral agenesis and caudal spinal malformations. Neurosurgery 1993;32:755-78.  Back to cited text no. 3
    
4.
Barkovich AJ, Raghavan N, Chuang S, Peck WW. The wedge-shaped cord terminus: A radiographic sign of caudal regression.AJNR Am J Neuroradiol1989;10:1223-31.  Back to cited text no. 4
    
5.
Mcgahan JP, Gianluigi P, David A. Nyberg: Neural Tube Defects and The Spine: Diagnostic Imaging of Fetal Anomalies. 1st ed., vol 7. Lippincott: Williams & Wilkins, 2003. p. 321-3.  Back to cited text no. 5
    
6.
Seidahmed MZ, Abdelbasit OB, Alhussein KA, Miqdad AM, Khalil MI, Salih MA. Sirenomelia and severe caudal regression syndrome. Saudi Med J 2014;35(Suppl 1):S36-43.  Back to cited text no. 6
    
7.
Torre M, Guida E, Bisio G, Scarsi P, Piatelli G, Cama A, et al. Risk factors for renal function impairment in a series of 502 patients born with spinal dysraphisms. J Pediatr Urol 2011;7:39-43.  Back to cited text no. 7
    
8.
Baxi L, Warren W, Collins MH, Timor-Tritsch IE. Early detection of caudal regression syndrome with transvaginal scanning. Obstet Gynecol 1990;75:486.  Back to cited text no. 8
    
9.
Whitby E, Wright P. Non-central nervous system fetal magnetic resonance imaging. Semin Fetal Neonatal Med 2015;20:130-7.  Back to cited text no. 9
    
10.
Chawla GS, Agrawal PM, Bajwa KS. A rare case of caudal regression syndrome in a foetus of non-diabetic mother: A case report. Pol J Radiol 2017;82:621-4.  Back to cited text no. 10
    
11.
Bhatt S, Tandon A, Singh AK, Manchanda S, Jain S, Meena N. Caudal regression syndrome: A case study with associated review of common differential diagnoses made with antenatal sonography. J Diagn Med Sonogr 2017;33:130-3.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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