Caudal duplication syndrome

Síndrome da duplicação caudal

CLINICAL/SCIENTIFIC NOTE

Caudal duplication syndrome

Síndrome da duplicação caudal

Atul Kumar Taneja^I; Geazi Zaffani^II; Augusto Celso Scarparo Amato-Filho^III; Luciano de Souza Queiroz^IV; Verônica de Araújo Zanardi^V; José Ribeiro de Menezes-Netto^VI

^IResident, Department of Radiology, Clinics Hospital (HC), Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil (FCM/UNICAMP)

^IIFormer Resident, Department of Radiology, Clinics Hospital (HC), Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil (FCM/UNICAMP)

^IIIAssistant Radiologist, Department of Radiology, Clinics Hospital (HC), Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil (FCM/UNICAMP)

^IVProfessor, Department of Pathology, Clinics Hospital (HC), Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil (FCM/UNICAMP)

^VProfessor, Department of Radiology, Clinics Hospital (HC), Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil (FCM/UNICAMP)

^VIMRI Division Chief, Department of Radiology, Clinics Hospital (HC), Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil (FCM/UNICAMP)

We report a rare case of caudal duplication syndrome, a disorder associating partial or complete duplication of the spine/spinal cord and of other caudal structures, specially gastrointestinal and urogenital tracts, and variable degrees of neurological dysfunction.

CASE

A female infant, born by cesarean delivery (dilation dystocia), was referred to our service at age of 24 hours with a history of "imperforate anus". Physical examination revealed duplicity of the vulvar introit (urine output by the right orifice and feces by the left). She was submitted to the following imaging exams: (1) echodopplercardiogram - interatrial and interventricular communications; (2) ultrasonography - pelvic left kidney; (3) barium enema - one of the perineal orifices had a communication with the rectum; the other communicated with the vaginal dome and the bladder (urogenital sinus); (4) voiding cystourethrogram (VCU) - two urethral orifices communicating with the bladder, bladder diverticulum on the right side and vesico-ureteral reflux (grade II) on the left side.

Investigation of the spine was done with conventional radiographs (XR), computed tomography (CT) and magnetic resonance imaging (MRI), which disclosed complex malformations of the thoracic and lumbosacral spine, with "S" shaped dextroscoliolis. Aortic duplication was also noted (Fig 1). The vertebral bodies of T1, T2, T4 and T10 were widened and split by an anterior median incisure. A T7 hemivertebra was also present. From T11 level there was complete duplication of the vertebral bodies extending down to the S2 level. The remaining sacral and coccigeal vertebrae were absent. Duplicated vertebrae were joined posteriorly by deformed laminae and encompassed an extremely enlarged spinal canal. The spinal cord was duplicated from level T1 downwards. From L1 level, a large lipoma occupied the spinal canal and communicated with the subcutaneous tissues inferiorly (Fig 2).

DISCUSSION

Spinal and spinal cord duplicity (diastematomyelia) malformations span a wide spectrum of anomalies, ranging from a simple fibrous band splitting the cord into halves to complete duplication of the spine and spinal cord. The more serious forms are rare and only a limited number of cases are on record¹. They are usually associated with other systemic malformations, including duplication of vascular structures, of the distal gastrointestinal and urogenital tracts (as in the present case), and possibly limb malformations. The term caudal duplication syndrome has been applied to those instances.

The embryologic origin of the caudal duplication is not known. Some authors propose that it may result from incomplete division of monozygotic twins. Pang et al.² advanced a unified theory for the spinal cord duplication disorders, suggesting that all result from abnormal adherence between ectoderm and endoderm². In the view of Dominguez et al. these anomalies originate from damage to the mass formed by caudal cells and posterior gut at approximately 25 days of pregnancy¹.

Pang et al. classified spinal cord duplication anomalies into types I and II. The first is characterized by two hemicords, each contained within its own dural sac, and separated by an osteocartillaginous septum. Type II is defined by two hemicords in the same dural sac, separated by a fibrous septum^2,3. The case we report may be classified as type I.

Most cases present with severe neurological impairment, although a few patients with mild or absent neurological dysfunction are on record^4,5.

Received 7 February 2009, received in final form 25 May 2009. Accepted 11 June 2009.

Dr. Atul Kumar Taneja - Rua Oscar Freire 2040 / 164 - 05409-011 São Paulo SP - Brasil. E-mail: [e-mail]

References

• 1. Dominguez R, Rott J, Castillo M, Pittaluga RR, Corriere JN Jr. Caudal duplication syndrome. Am J Dis Child 1993;147:1048-1052.
• 2. Pang D, Dias MS, Ahab-Barmada M. Split cord malformation: Part I. A unified theory of embryogenesis for double spinal cord malformations. Neurosurgery 1992;31:451-480.
• 3. Pang D, Dias MS, Ahab-Barmada M. Split cord malformation. Part II: Clinical syndrome. Neurosurgery 1992;31:481-500.
• 4. Incesu L, Karaismailoglu TN, Selcuk MB. Neurologically normal complete asymmetric lumbar spine duplication. AJNR Am J Neuroradiol 2004;25:895-896.
• 5. Ahmed S, Xenos C, Hockley AD. Thoraco-lumbar duplication of the spine: case report and embryology review. Childs Nerv Syst 2000;16: 603-606.

Publication Dates

• Publication in this collection
  21 Aug 2009
• Date of issue
  Sept 2009