Images in Pediatric Neurosurgery Pediatr Neurosurg 2013;49:126–128 DOI: 10.1159/000358095
Received: October 9, 2013 Accepted after revision: December 18, 2013 Published online: February 11, 2014
Complex Spinal Dysraphism with Multiple Anomalies Kanwaljeet Garg Rajinder Kumar Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India
Ectopic or accessory digits attached to the back with other congenital anomalies are an extremely rare and strange condition. Due to the rare nature of these malformations and the wide range of presentation, classification and categorization can be difficult and somewhat confusing. Here we present an infant born with a complex lipomatous lumbar mass with 2 attached digits and an underlying split cord malformation associated with Chiari malformation type II, holocord syrinx, cervicothoracic anterolisthesis and craniosynostosis. The differential diagnosis of this complex is briefly discussed. A 1-year-old male child was brought to our outdoor patient department with a swelling over the lower back region since birth. He was the second child of a nonconsanguineous marriage with full-term normal delivery. The mother did not receive any folic acid supplements during the periconceptional period. He was moving his limbs normally but had continuous urinary dribbling. There was a large swelling over the lower dorsal and lumbar region, 18 × 15 cm in size, with 2 digits, one at the 12-o’clock position and the other at the 3-o’clock position with a well-formed nail (fig. 1a, 2). MRI revealed multiple anomalies. There was type I split cord malformation with an unusually large, bony spur from T11 to L3. A fluid-filled sac was seen in the © 2014 S. Karger AG, Basel 1016–2291/14/0492–0126$39.50/0 E-Mail [email protected] www.karger.com/pne
dorsolumbar region, with the left hemicord, distal cord and nerve roots extending into the sac and with fat deposition in the subcutaneous tissue, suggestive of lipomyelomeningocele. There was long-segment syrinx formation in the cervicodorsolumbar region. There was an associated Chiari type II malformation. There were multiple spinal segmentation anomalies (fig. 1, 3). The patient had a small head with fused suture lines suggestive of craniosynostosis (fig. 3d). He was planned for surgery, but the parents of the patient did not agree to the surgical intervention. They could not be convinced despite all measures taken. An association of accessory digits with spinal dysraphism with these congenital anomalies is extremely rare. Our patient had 2 digits arising from a dorsolumbar lipomatous mass with underlying spinal dysraphism and Chiari malformation. These findings can be associated with a number of diagnostic entities like teratomas [1] and hamartomas [2]. It may be part of disorganization syndrome and may also represent a rudimentary parasitic/ conjoint twin (‘rachipagus’) [3]. Histologically, these lesions may contain a range of mature germ layer derivatives, possibly related to abnormal inductive interactions between the dorsal part of the neural tube and the somitederived dorsal mesoderm [4]. Dr. Rajinder Kumar Room No. 605, Department of Neurosurgery Cardio-Neuro Centre, All India Institute of Medical Sciences New Delhi 110029 (India) E-Mail rklaythalling @ rediffmail.com
Fig. 1. a Child with a midline dorsal mass with attached fingers with a well-formed nail. b, c Sagittal T1- and T2-weighted MRI showing a dorsolumbar lipomyelomeningocele sac with holocord syrinx, Chiari type II malformation and cervicothoracic anterolisthesis. d, e Axial T1- and T2weighted MRI showing type I split cord malformation with neural tissue extending into the sac.
a
b
d
e
There has been considerable debate regarding the pathogenesis of the abovementioned range of skin-covered dorsal mass lesions [5]. Krishna and Lal [6], in their series of 9 cases, supported the hypotheses of Gardner [7] and Egar [8]. Gardner [7] differentiated between primary and secondary neural-tube defects and suggested that while the former resulted from failure of the neural tube to close, the latter resulted from its rupture after closure due to oversecretion of neural tube fluid. When this overexpanded neural tube ruptures beneath an intact cutaneous ectoderm, the proteinaceous neural tube fluid infiltrates the mesoderm. Dislocation of cells occurs and is compounded by the injury caused by extraneous protein to the as yet unidentifiable anlagen of mesodermal organs. This interesting concept of secondary neural tube defects may satisfactorily explain why most of such cases have a complete skin cover and why accessory limbs do not occur with the common variety of spina bifida cystica, which may be a primary neural tube defect. The overdistension theory may also explain the very high occurrence of more than 1 neural tube defect in the same baby. The association of Chiari type II, large syrinx and craniosynostosis with complex spinal dysraphism may represent part of the disorganization syndrome. Complex Spinal Dysraphism with Multiple Anomalies
c
Fig. 2. Clinical photograph of the child showing a huge midline mass
in the dorsolumbar region with 2 well-formed accessory digits.
Pediatr Neurosurg 2013;49:126–128 DOI: 10.1159/000358095
127
d
b
Fig. 3. Noncontrast CT images. a Sagittal image showing a large bony spur arising from T12/L1. b Axial image showing a bony spur dividing the spinal canal into 2 parts with absent lamina on the left side. c Axial image showing the phalangeal bones. d Head (bone window) showing fused sutures.
a
The surgical management of such cases includes exploration and excision of the lipomyelomeningocele along with the redundant skin and the accessory digits. If the surgery is well planned before taking in such a patient, there is no place for partial excision – although partial excision can be considered in cases where a child has lost an excess amount of blood during surgery. Such children with multiple anomalies may require multiple surgeries in order to deal with the different abnormalities – such as lipomyelomeningocele and craniosynostosis in our case – as the small child may not tolerate correction of all abnormalities in one go. At our center we close the dura primarily, after mobilizing it from the surrounding tissues without using any other graft (natural or synthetic) material.
c
Conclusion
There is a pathogenically related spectrum of skin-covered dorsal mass lesions, frequently associated with spinal dysraphism and a lipomatous component. The spectrum of such disorders extends from lipomas/lipomyelomeningoceles at the one end to complex lesions comprising well-developed limbs, abdominopelvic viscera and genitalia at the other end. The present case occupies an intermediate position along this spectrum. Such complex anomalies require multiple corrective procedures, each procedure adding to possible risks of complications. However, the final decision regarding operation rests with the patient’s attendants when knowing all the pros and cons.
References 1 Koen JL, McLendon RE, George TM: Intradural spinal teratoma: evidence for a dysembryogenic origin – report of four cases. J Neurosurg 1998;89:844–851. 2 Tibbs PA, James HE, Rorke LB, Schut L, Bruce DA: Midline hamartomas masquerading as meningomyeloceles or teratomas in the newborn infant. J Pediatr 1976;89:928–933.
128
3 Spencer R: Parasitic conjoined twins: external, internal (fetuses in fetu and teratomas), and detached (acardiacs). Clin Anat 2001;14: 428–444. 4 Catala M: Embryogenesis: why do we need a new explanation for the emergence of spina bifida with lipoma? Childs Nerv Syst 1997;13: 336–340. 5 Drut R, García C, Drut RM: Poorly organized parasitic conjoined twins: report of four cases. Pediatr Pathol 1992;12:691–700.
Pediatr Neurosurg 2013;49:126–128 DOI: 10.1159/000358095
6 Krishna A, Lal P: Accessory limbs associated with spina bifida: a second look. Pediatr Surg Int 1999;15:248–250. 7 Gardner WJ: Hypothesis: overdistention of the neural tube may cause anomalies of nonneural organs. Teratology 1980;22:229–238. 8 Egar MW: Accessory limb production by nerve-induced cell proliferation. Anat Rec 1988;221:550–564.
Garg/Kumar
Copyright: S. Karger AG, Basel 2014. Reproduced with the permission of S. Karger AG, Basel. Further reproduction or distribution (electronic or otherwise) is prohibited without permission from the copyright holder.
Received: October 9, 2013 Accepted after revision: December 18, 2013 Published online: February 11, 2014
Complex Spinal Dysraphism with Multiple Anomalies Kanwaljeet Garg Rajinder Kumar Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India
Ectopic or accessory digits attached to the back with other congenital anomalies are an extremely rare and strange condition. Due to the rare nature of these malformations and the wide range of presentation, classification and categorization can be difficult and somewhat confusing. Here we present an infant born with a complex lipomatous lumbar mass with 2 attached digits and an underlying split cord malformation associated with Chiari malformation type II, holocord syrinx, cervicothoracic anterolisthesis and craniosynostosis. The differential diagnosis of this complex is briefly discussed. A 1-year-old male child was brought to our outdoor patient department with a swelling over the lower back region since birth. He was the second child of a nonconsanguineous marriage with full-term normal delivery. The mother did not receive any folic acid supplements during the periconceptional period. He was moving his limbs normally but had continuous urinary dribbling. There was a large swelling over the lower dorsal and lumbar region, 18 × 15 cm in size, with 2 digits, one at the 12-o’clock position and the other at the 3-o’clock position with a well-formed nail (fig. 1a, 2). MRI revealed multiple anomalies. There was type I split cord malformation with an unusually large, bony spur from T11 to L3. A fluid-filled sac was seen in the © 2014 S. Karger AG, Basel 1016–2291/14/0492–0126$39.50/0 E-Mail [email protected] www.karger.com/pne
dorsolumbar region, with the left hemicord, distal cord and nerve roots extending into the sac and with fat deposition in the subcutaneous tissue, suggestive of lipomyelomeningocele. There was long-segment syrinx formation in the cervicodorsolumbar region. There was an associated Chiari type II malformation. There were multiple spinal segmentation anomalies (fig. 1, 3). The patient had a small head with fused suture lines suggestive of craniosynostosis (fig. 3d). He was planned for surgery, but the parents of the patient did not agree to the surgical intervention. They could not be convinced despite all measures taken. An association of accessory digits with spinal dysraphism with these congenital anomalies is extremely rare. Our patient had 2 digits arising from a dorsolumbar lipomatous mass with underlying spinal dysraphism and Chiari malformation. These findings can be associated with a number of diagnostic entities like teratomas [1] and hamartomas [2]. It may be part of disorganization syndrome and may also represent a rudimentary parasitic/ conjoint twin (‘rachipagus’) [3]. Histologically, these lesions may contain a range of mature germ layer derivatives, possibly related to abnormal inductive interactions between the dorsal part of the neural tube and the somitederived dorsal mesoderm [4]. Dr. Rajinder Kumar Room No. 605, Department of Neurosurgery Cardio-Neuro Centre, All India Institute of Medical Sciences New Delhi 110029 (India) E-Mail rklaythalling @ rediffmail.com
Fig. 1. a Child with a midline dorsal mass with attached fingers with a well-formed nail. b, c Sagittal T1- and T2-weighted MRI showing a dorsolumbar lipomyelomeningocele sac with holocord syrinx, Chiari type II malformation and cervicothoracic anterolisthesis. d, e Axial T1- and T2weighted MRI showing type I split cord malformation with neural tissue extending into the sac.
a
b
d
e
There has been considerable debate regarding the pathogenesis of the abovementioned range of skin-covered dorsal mass lesions [5]. Krishna and Lal [6], in their series of 9 cases, supported the hypotheses of Gardner [7] and Egar [8]. Gardner [7] differentiated between primary and secondary neural-tube defects and suggested that while the former resulted from failure of the neural tube to close, the latter resulted from its rupture after closure due to oversecretion of neural tube fluid. When this overexpanded neural tube ruptures beneath an intact cutaneous ectoderm, the proteinaceous neural tube fluid infiltrates the mesoderm. Dislocation of cells occurs and is compounded by the injury caused by extraneous protein to the as yet unidentifiable anlagen of mesodermal organs. This interesting concept of secondary neural tube defects may satisfactorily explain why most of such cases have a complete skin cover and why accessory limbs do not occur with the common variety of spina bifida cystica, which may be a primary neural tube defect. The overdistension theory may also explain the very high occurrence of more than 1 neural tube defect in the same baby. The association of Chiari type II, large syrinx and craniosynostosis with complex spinal dysraphism may represent part of the disorganization syndrome. Complex Spinal Dysraphism with Multiple Anomalies
c
Fig. 2. Clinical photograph of the child showing a huge midline mass
in the dorsolumbar region with 2 well-formed accessory digits.
Pediatr Neurosurg 2013;49:126–128 DOI: 10.1159/000358095
127
d
b
Fig. 3. Noncontrast CT images. a Sagittal image showing a large bony spur arising from T12/L1. b Axial image showing a bony spur dividing the spinal canal into 2 parts with absent lamina on the left side. c Axial image showing the phalangeal bones. d Head (bone window) showing fused sutures.
a
The surgical management of such cases includes exploration and excision of the lipomyelomeningocele along with the redundant skin and the accessory digits. If the surgery is well planned before taking in such a patient, there is no place for partial excision – although partial excision can be considered in cases where a child has lost an excess amount of blood during surgery. Such children with multiple anomalies may require multiple surgeries in order to deal with the different abnormalities – such as lipomyelomeningocele and craniosynostosis in our case – as the small child may not tolerate correction of all abnormalities in one go. At our center we close the dura primarily, after mobilizing it from the surrounding tissues without using any other graft (natural or synthetic) material.
c
Conclusion
There is a pathogenically related spectrum of skin-covered dorsal mass lesions, frequently associated with spinal dysraphism and a lipomatous component. The spectrum of such disorders extends from lipomas/lipomyelomeningoceles at the one end to complex lesions comprising well-developed limbs, abdominopelvic viscera and genitalia at the other end. The present case occupies an intermediate position along this spectrum. Such complex anomalies require multiple corrective procedures, each procedure adding to possible risks of complications. However, the final decision regarding operation rests with the patient’s attendants when knowing all the pros and cons.
References 1 Koen JL, McLendon RE, George TM: Intradural spinal teratoma: evidence for a dysembryogenic origin – report of four cases. J Neurosurg 1998;89:844–851. 2 Tibbs PA, James HE, Rorke LB, Schut L, Bruce DA: Midline hamartomas masquerading as meningomyeloceles or teratomas in the newborn infant. J Pediatr 1976;89:928–933.
128
3 Spencer R: Parasitic conjoined twins: external, internal (fetuses in fetu and teratomas), and detached (acardiacs). Clin Anat 2001;14: 428–444. 4 Catala M: Embryogenesis: why do we need a new explanation for the emergence of spina bifida with lipoma? Childs Nerv Syst 1997;13: 336–340. 5 Drut R, García C, Drut RM: Poorly organized parasitic conjoined twins: report of four cases. Pediatr Pathol 1992;12:691–700.
Pediatr Neurosurg 2013;49:126–128 DOI: 10.1159/000358095
6 Krishna A, Lal P: Accessory limbs associated with spina bifida: a second look. Pediatr Surg Int 1999;15:248–250. 7 Gardner WJ: Hypothesis: overdistention of the neural tube may cause anomalies of nonneural organs. Teratology 1980;22:229–238. 8 Egar MW: Accessory limb production by nerve-induced cell proliferation. Anat Rec 1988;221:550–564.
Garg/Kumar
Copyright: S. Karger AG, Basel 2014. Reproduced with the permission of S. Karger AG, Basel. Further reproduction or distribution (electronic or otherwise) is prohibited without permission from the copyright holder.
