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Multiple neurosurgical treatments for different members of the same family with Currarino syndrome
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Clinical case
Multiple neurosurgical treatments for different members of the same family with Currarino syndrome N. Serratrice a,∗ , L. Fievet b , F. Albader a , D. Scavarda c , H. Dufour a , S. Fuentes a a b c
Department of neurosurgery, La Timone hospital, Assistance publique–Hôpitaux de Marseille, 13005 Marseille, France Department of pediatric surgery, La Timone hospital, Assistance publique–Hôpitaux de Marseille, 13005 Marseille, France Department of pediatric neurosurgery, La Timone hospital, Assistance publique–Hôpitaux de Marseille, 13005 Marseille, France
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Article history: Received 26 September 2017 Received in revised form 2 December 2017 Accepted 27 January 2018 Available online xxx Keywords: Currarino syndrome Functional digestive and urinary disorders Anterior sacral meningocele Tethered spinal cord syndrome Lipoma of the filum terminale Neurosurgery
a b s t r a c t Introduction. – Currarino’s syndrome (CS) is an autosomal dominant disorder of embryonic development causing a rare malformating syndrome characterized by a triad of an anorectal malformations, presacral mass (most commonly an anterior sacral meningocele) and sacral bony defects. Mutations of the HLXB9 gene have been identified in most CS cases, but a precise genotype-phenotype correlation has not been described so far. Family screening is obligatory. The diagnosis is usually made during childhood and rarely in adulthood. In this context, imaging, and especially MRI plays a major role in the diagnosis of this syndrome. Surgical management is provided by pediatric surgeons or neurosurgeons. Familial case report. – Here, we present a family case report with CS requiring different neurosurgical management. The son, a 3-year-old boy, developed a tethered spinal cord syndrome associated to a lipoma of the filum terminale, a sacro-coccygeal teratoma and an anal adhesion. A combined surgical approach permitted a good evolution on the urinary and digestive functions despite a persistent fecal incontinence. The 2-year-old daughter presented with a cyst of the thyreoglossal tract infected and fistulized to the skin. She was also followed for a very small lipoma of the filum terminale that required a neurosurgical approach. The father, 44-year-old, manifested functional digestive and urinary disorders caused by a giant anterior sacral meningocele. The ligation of the neck of the cyst and aspiration of the liquid inside in full through a posterior partial approach permit a complete collapse of the cyst with an instantly satisfactory clinical outcome. Conclusion. – In these cases, cooperation between pediatric surgeons and neurosurgeons was crucial. The follow-up of these patients should be done in a spina bifida clinic. A geneticist evaluation must be offered to the patient in the case of a CS as well as a clinical evaluation of the relatives (parents, siblings). © 2018 Elsevier Masson SAS. All rights reserved.
1. Introduction In 1926, Kennedy was the first to report an association of sacral bony defect, anterior sacral meningocele and rectal polyp [1]. But it was only 50 years later that Currarino et al. described the triad as a complex syndrome [2]. Since then, approximately 300 pediatric cases and about 60 adult cases have been reported in the literature. Incidence is probably higher, because this pathology is little known by clinicians and many patients still go undiagnosed [3].
∗ Corresponding author. E-mail addresses: [email protected], [email protected] (N. Serratrice), lucile.fi[email protected] (L. Fievet), [email protected] (F. Albader), [email protected] (D. Scavarda), [email protected] (H. Dufour), [email protected] (S. Fuentes).
Currarino syndrome (CS) belongs to the group of neural malformations [4,5]. It results from an abnormal separation between the neuroectoderm and the endoderm [4]. A common embryological abnormality in the triad was suggested by Currarino, in which he was followed by several authors [6,7]. It is characterized by anorectal malformations, abnormalities in the sacral bone and presence of a presacral mass. It is complete if all 3 anomalies are present, and partial or incomplete in the presence of a hemisacrum associated with 1 of the other 2 malformations (presacral mass or anorectal abnormalities) [3–5]. CS is the only known form of hereditary sacral agenesis. The mode of inheritance is autosomal dominant in nearly half of the cases. Mutations of the HLXB9 homeobox gene (which encodes a transcription factor, the HB9 protein), located in the chromosomal 7q36 region, have been demonstrated in many cases of CS and in only 30% of sporadic cases. This suggests that other genes are involved in the syndrome [8,9]. Disease penetrance can be was
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incomplete and expressivity may vary, even within a given family. No correlation was found between phenotype and genotype [9–11]. Here, we present a family case report of CS, requiring multiple neurosurgical management. 2. Family case report The first case was a 3-year-old child followed for sacral agenesis (Fig. 1A). He was operated on with a multidisciplinary pediatric surgical approach: • pediatric neurosurgery for tethered spinal cord syndrome associated with lipoma of the filum terminale (Fig. 1B); • pediatric surgery for a sacrococcygeal teratoma and anal adhesion (Fig. 1C). The pathology confirmed the diagnosis of lipoma of the filum terminale. The rectal tumor comprised was adipose tissue, with no malignant aspect. Progression was satisfactory. The child had acquired cleanliness 3 months before surgery. Postoperatively, he developed disorders of urination (interruption of the urinary jet and drops at the end of miction), and diurnal urine leaks. The parents noticed that since the operation he no longer asked to use the toilet, but and urinated in his diaper. This is actually very unusual after surgery for a fibromatous lipoma. Renovesical ultrasound and cystography had returned to normal values. The child had urological follow-up due to the infectious risk in the urine. He developed fecal incontinence, with megarectum and megasigmoid on X-ray opacifi® cation. The Peristeen transanal irrigation system was introduced at a frequency of twice daily, with 350 mL water; this was very productive, and very well-tolerated, allowing discharge home with instructions to continue the procedure. Determination of blood tumor markers found alpha-fetoprotein at 1.94 ng/mL and betaHCG at < 0.04 ng/mL. The second case was the daughter, who was 2 years old when diagnosed. The situation was much more reassuring. The conus of the spinal cord was in a physiological position. There was a very small lipoma of the filum terminale that required neurosurgical management as a precaution (Fig. 2A and B). She also presented a similar image at the sacrum (Fig. 2C). The only manifestation was a cyst of the thyroglossal tract, infected and fistulized to the skin. Resection was completed by a Meunier stitch in the tongue base after a Sistrunk procedure. Pathology diagnosed a benign lesion. In the blood, alpha-fetoprotein was at 8.62 ng/mL and beta-HCG at < 0.04 ng/mL. The third case was the father of the children, who was 44 years old, with surgical history of anal imperforation at birth
operated on during the neo-natal period. He was followed for CS after the diagnosis in his son and due to the development of a very large pelvic mass. There were signs of pelvic organ compression with urinary disorder (pollakiuria), digestive disorder (chronic constipation treated with laxatives such as Macrogol) and poorly systematized root pain. There was also intracranial hypotension during certain efforts. MRI (Fig. 3A) found a voluminous anterior cystic tumor mass with meningocele and communication under the fourth sacral portion. A posterior approach was performed via partial lumbosacral laminectomy (Video). The giant anterior sacral meningocele was exposed extradurally. Levels S3, S4 and S5 were approached, and the collar of the cyst was found to be in communication with the dura, and was ligated with non-absorbable thread. Liquid inside the cyst was aspirated in totality. After centrifugation and MGG staining, the cystic fluid appeared hematic, with predominant red blood cells without any other identifiable abnormal cellular elements. Staphylococcus pasteuri, a multi-susceptible coagulase-negative Gram-positive organism, was detected in the liquid. The patient never presented clinical or biological signs of meningococcus or infectious syndrome, and did not receive any antibiotics. Pathology was consistent with meningocele, showing fibrous meningo-epithelial tissue. Postoperative MRI (Fig. 3B), early after surgery and 3 months later, showed complete regression of the meningocele. Neurological examination was normal. The patient no longer complained of constipation.
3. Discussion Currarino syndrome results from an abnormal separation between the neuroectoderm and the endoderm during embryogenesis [4]. In the normal state, the endodermal leaflet (future gastrointestinal tract) closes at about the same time as the neuroectoderm (future neural tube). The notochord and somites form the future vertebral bodies, thus isolating the neural tube from the primitive intestine. The persistence of an abnormal adhesion between the endoderm and the neuroectoderm prevents anterior fusion of the vertebral body, resulting in a “fistula” between the digestive and neural elements. Partial resorption of this “fistula” on the dorsal side leads to meningocele, and on the ventral side to an enteric cyst. Teratoma forms if the enteric and neural elements remain bound by elements of the mesoderm which have migrated into the presacral space during the development of the somites [2,6]. Anorectal malformations in CS comprise anal atresia, anorectal stenosis, anal ectopia, anal imperforation, rectourethral fistula or rectovaginal fistula [12].
Fig. 1. A. Initial radiograph of the pelvis: sacral agenesis. B. Tethered spinal cord syndrome associated with lipoma of the filum terminale (white asterisk) (MRI before surgery, sagittal view, T2 sequence). C. Anal adhesion.
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Fig. 2. Lipoma of the filum terminale (white asterisk), before (A) and after resection (B) (MRI sagittal views, T1 sequence). (C) Presacral mass (white asterisk).
Fig. 3. Anterior sacral meningocele (black asterisk) before surgery (A), and complete regression at 3 months post-surgery (B) (MRI sagittal views, T2 sequence).
Sacral abnormalities are present in 100% of cases [3,4]. All kinds of sacrococcygeal bone defect are possible, from simple lateral deviation of the coccyx to agenesis of the sacrum [6,13]. They are often asymptomatic, and discovered radiologically (regardless of age). The appearance of the sacrum in “cemetery” or sacral hemiagenesis is characteristic of the disease [14]. In addition to this aspect, there may also be total sacral agenesis with normal or diminished transverse pelvic diameter and absence of a few lumbar vertebrae, total sacral agenesis with intact lumbar vertebrae, partial sacral agenesis (presence of S1), hemisacrum or coccygeal agenesis. Spinal cord cone malformations are present in 66% of cases, which is why Crettole et al. [11], like other authors, preferred the term “Currarino syndrome” to that of “triad”. The malformation of the medullary terminal cone may take different forms: low bone marrow, thickened and shortened filum terminated by intraor even extra-spinal lipoma, syringomyelic cavity, hydromyelia and/or cystic dilation of the terminal cone. In almost half of cases, there is communication between the terminal cone of the cord and the presacral tumor, a potential source of serious or even lethal complications such as presacral abscesses and/or meningitis, making CS a severe disease [15,16], although spinal defects may remain asymptomatic for a long time. This necessitates MRI examination of the lumbosacral spine as soon as CS is suspected [17].
The presacral mass presents on ultrasound as a heterogeneous hypoechoic mass; it is MRI that specifies its nature, which may be: • an anterior meningocele (60%), which is an anterior extension through a vertebral bone defect of the dura mater and the arachnoid, constituting a retro- and/or sub-peritoneal pouch showing the same signal as that of the cerebrospinal fluid; • a benign teratoma (23%), which is a well-circumscribed mass with a capsule that is often thickened and sometimes calcified, the content of which is variable and may include liquid, solid, greasy or calcified elements, specified by MRI; • a dermoid cyst (6%), which appears as heterogeneous hypersignal on T1- and T2-weighted sequences due to the large amount of fat formed by the sebaceous glands; • or a lipoma, showing T1 and T2 hypersignal (1%), or a hamartoma, the association of the two being not exceptional. Malignant degeneration is rare, found only in 1% of cases [7]. Anomalies of the urogenital apparatus may be associated [18], as well as short limbs, lower-limb length discrepancy, missing toes or cardiovascular malformations. CS and Hirschsprung’s disease are associated in 10% of cases [19]. Imaging oriented by clinical findings establishes precise malformation status. Thus, standard X-ray reveals sacral agenesis, digestive opacification confirms and classifies anorectal malformation, and CT-scan completes lesion assessment. Medullary MRI is
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the examination of choice to confirm diagnosis and evaluate the extent of anomalies [12,17]. Close cooperation between pediatric surgeons and neurosurgeons is necessary to ensure correct surgical treatment, weighing the risks of malignant degeneration and of intraoperative nerve injury [20]. A familial tendency with autosomal dominant inheritance was observed in this family, as initially described by Yates et al. in 1983 [8]. Here, a known causative mutation in the HLXB9 gene was identified, and confirmed diagnosis. To date, a total of 70 HLXB9 mutations (including cytogenetic anomalies) have been identified [9]. Mutations in the HLXB9 gene were found in almost all reported cases of familial CS, and in approximately 30% of patients with sporadic CS [10]. HLXB9 was mainly studied as a developmental gene. This homeobox gene is also known as MNX1, and is involved in motor-neuronal development [21,22]. Experimental work on animal models showed that HLXB9 plays an essential role in early motor-neuron differentiation. Activation regulates the different stages of early embryonic development of the caudal part. The phenotypic variability observed in this family, carrying the same mutation, can be explained by the involvement of other genes [10,13,14,23,24]. The present study suggests that mutational analysis should be systematically performed in patients with suspicion of CS. Precise genetic counseling is still difficult, due to the lack of genotype/phenotype correlation and the variability of expression in carriers. In this context, MRI should be used as a screening tool in members of a CS family with genetic mutation, in order to avoid morbidity and mortality [25]. It is also worth mentioning that constipation can be a severe problem in CS patients, and especially around childbirth [26]. The true cause sometimes is difficult to elucidate, and may be a combination of anorectal malformation, anterior myelomeningocele and tethered cord. Anterior meningocele surgery is not necessarily indicated in CS, but only in the rare case in which bulk is expected to cause urinary or digestive disorders [27]. Here, we chose posterior minimally invasive neurosurgery for the anterior myelomeningocele. The classical technique is well-established [28]. Here, we went further, performing a minimally invasive sacral neurosurgical approach. We exposed the giant anterior sacral meningocele extradurally through a posterior partial opening. Levels S3, S4 and S5 were then approached, revealing the collar of the cyst in communication with the dura, and the collar was ligated with non-absorbable thread. Liquid inside the cyst was aspirated in totality, which quickly contributed to good digestive functional progression. In conclusion, this approach appeared safe and well-tolerated. Certain authors also described endoscopic management for giant anterior sacral meningocele [29]. Tethering the spinal cord is commonly associated with CS, in 70% of cases [30]. Here, we chose a classical technique, as previously described [31,32]. This is the first time that a thyroglossal cyst has been described in CS. No correlation is reported in the literature between CS and the formation of thyroglossal cysts, and the two are probably unrelated. Future literature will tell whether other patients develop this type of congenital malformation. S. pasteuri is a coagulase-negative Gram-positive organism which is emerging as an agent of nosocomial infection and bloodderivative contamination, though its role in causing human disease remains largely controversial. Despite the paucity of isolates recovered, this bacterium recently appeared to be resistant against several classes of antibiotic compounds [33]. This is the first time that this germ has been highlighted in CS. The patient was not symptomatic, clinically or biologically, so it was decided not to treat him with antibiotics.
4. Conclusion We presented a family case of CS caused by a classical HLXB9 gene mutation transmitted in an autosomal dominant mode. The son, daughter and father required different neurosurgical treatments. The son, a 3-year-old boy, developed tethered spinal cord syndrome associated with lipoma of the filum terminale, sacrococcygeal teratoma and anal adhesion. A combined surgical approach resulted in good progression of urinary and digestive function despite persistent fecal incontinence. The 2-year-old daughter presented with a cyst of the thyroglossal tract, infected and fistulized to the skin. She was also followed for a very small lipoma of the filum terminale that required a classical neurosurgical intervention. The father, 44 years old, showed digestive and urinary functional disorders, caused by a giant anterior sacral meningocele. Ligation of the cyst neck and total aspiration through a partial posterior approach achieved complete collapse of the cyst, with instantly satisfactory clinical impact. Minimally invasive neurosurgery of the anterior myelomeningocele appeared safe. Cooperation between pediatric surgeons and neurosurgeons is essential. Follow-up should be performed in a spina bifida clinic. Genetic evaluation must be offered to the patient in case of CS, as well as clinical evaluation of relatives (parents, siblings). Disclosure of interest The authors declare that they have no competing interest. Acknowledgments We are grateful to the co-authors for reading over the article. Appendix A. Supplementary data Supplementary data (video) associated with this article can be found, in the online version, at https://doi.org/10.1016/ j.neuchi.2018.01.009. References [1] Kennedy RLJ. An unusual rectal polyp: anterior sacral meningocele. Surg Gynecol Obstet 1926;43:803–4. [2] Currarino G, Coln D, Votteler T. Triad of anorectal, sacral, and presacral anomalies. AJR Am J Roentgenol 1981;137(2):395–8, http://dx.doi.org/10.2214/ajr.137.2.395. [3] Emans PJ, Kootstra G, Marcelis C, Beuls E, Enest Van Heurn LW. The Currarino triad: variable expression. J Pediatr Surg 2005;58(5):924–9, http://dx.doi.org/10.1227/01.NEU.0000209945.87233.6A [discussion 924–9]. [4] Otagiri N, Matsumoto Y, Yoshida Y. Posterior sagittal approach for Currarino syndrome with anterior sacral meningocele: a case report. J Pediatr Surg 2000;35(7):1112–4, http://dx.doi.org/10.1053/jpsu.2000.7838. [5] Samuel M, Hosie G, Holmes K. Currarino triad: diagnostic dilemma and a combined surgical approach. J Pediatr Surg 2000;35(12):1790–4, http://dx.doi.org/10.1053/jpsu.2000.19258. [6] Kirks DR, Merten DF, Filston HC, Oakes WJ. The Currarino triad: complex of anorectal malformation, sacral bony abnormality, and presacral mass. Pediatr Radiol 1984;14(4):220–5. [7] de Lagausie P, Munck A, Hertz PL, Aigrain Y, Dupont A, Boureau M. Currarino syndrome: an association not to be overlooked. Arch Fr Pediatr 1991;48(9):631–64. [8] Yates VD, Wilroy RS, Whitington GL, Simmons JC. Anterior sacral defects: an autosomal dominantly inherited condition. J Pediatr 1983;102(2):239–42. [9] Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 1998;20(4):358–61, http://dx.doi.org/10.1038/3828. [10] Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, et al. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 2000;66(1):312–9, http://dx.doi.org/10.1086/302723. [11] Cretolle C, Zerah M, Jaubert F, Sarnacki S, Revillon Y, Lyonnet S, et al. New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases). J Pediatr Surg 2006;41(1):126–31, http://dx.doi.org/10.1016/j.jpedsurg.2005.10.053 [discussion 126–31].
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in the SK-N-BE neuroblastoma cell line. PLoS One 2014;9(8):e105481, http://dx.doi.org/10.1371/journal.pone.0105481. [24] Garcia-Barceló MM, Lui VC, So MT, Miao X, Leon TY, Yuan ZW, et al. MNX1 (HLXB9) mutations in Currarino patients. J Pediatr Surg 2009;44(10):1892–8, http://dx.doi.org/10.1016/j.jpedsurg.2009.03.039. [25] Kim AY, Yoo SY, Kim JH, Eo H, Jeon TY. Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation. Clin Imaging 2013;37(2):398–402, http://dx.doi.org/10.1016/j.clinimag.2012.05.007. [26] McKenzie AG, Burns R, Cowan S. Combined spinal-epidural technique for caesarean delivery of a parturient with Currarino triad. Int J Obstet Anesth 2016;25:93–5, http://dx.doi.org/10.1016/j.ijoa.2015.08.008 [Epub 2015 Aug 14]. [27] Emans PJ, van Aalst J, van Heurn EL, Marcelis C, Kootstra G, Beets-Tan RG, et al. The Currarino triad: neurosurgical considerations. Neurosurgery 2006;58(5):924–9 [discussion 924–9]. [28] Barrenechea IJ, Lesser JB, Gidekel AL, Turjanski L, Perin NI. Diagnosis and treatment of spinal cord herniation: a combined experience. Neurosurg Spine 2006;5(4):294–302, http://dx.doi.org/10.3171/spi.2006.5.4.294. [29] Sunna TP, Westwick HJ, Zairi F, Berania I, Shedid D. Successful management of a giant anterior sacral meningocele with an endoscopic cutting stapler: case report. J Neurosurg Spine 2016;24(5):862–6, http://dx.doi.org/10.3171/2015.8.SPINE15129. [30] Kole MJ, Fridley JS, Jea A, Bollo RJ. Currarino syndrome and spinal dysraphism. Neurosurg Pediatr 2014;13(6):685–9, http://dx.doi.org/10. 3171/2014.3.PEDS13534 [Epub 2014 Apr 18]. [31] AbouZeid AA, Mohammad SA, Abolfotoh M, Radwan AB, Ismail MM, Hassan TA. The Currarino triad: what pediatric surgeons need to know. Pediatr Surg 2017;52(8):1260–8, http://dx.doi.org/10.1016/j.jpedsurg.2016.12.010 [pii: S0022-3468(16)30649-2]. [32] Yamada S, Won DJ, Siddiqi J, Yamada SM. Tethered cord syndrome: overview of diagnosis and treatment. Neurol Res 2004;26(7):719–21, http://dx.doi.org/10.1179/0161641042250179470. [33] Savini V, Catavitello C, Bianco A, Balbinot A, D’Antonio D. Epidemiology, pathogenicity and emerging resistances in Staphylococcus pasteuri: from mammals and lampreys, to man. Recent Pat Antiinfect Drug Discov 2009;4(2):123–9.
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Clinical case
Multiple neurosurgical treatments for different members of the same family with Currarino syndrome N. Serratrice a,∗ , L. Fievet b , F. Albader a , D. Scavarda c , H. Dufour a , S. Fuentes a a b c
Department of neurosurgery, La Timone hospital, Assistance publique–Hôpitaux de Marseille, 13005 Marseille, France Department of pediatric surgery, La Timone hospital, Assistance publique–Hôpitaux de Marseille, 13005 Marseille, France Department of pediatric neurosurgery, La Timone hospital, Assistance publique–Hôpitaux de Marseille, 13005 Marseille, France
a r t i c l e
i n f o
Article history: Received 26 September 2017 Received in revised form 2 December 2017 Accepted 27 January 2018 Available online xxx Keywords: Currarino syndrome Functional digestive and urinary disorders Anterior sacral meningocele Tethered spinal cord syndrome Lipoma of the filum terminale Neurosurgery
a b s t r a c t Introduction. – Currarino’s syndrome (CS) is an autosomal dominant disorder of embryonic development causing a rare malformating syndrome characterized by a triad of an anorectal malformations, presacral mass (most commonly an anterior sacral meningocele) and sacral bony defects. Mutations of the HLXB9 gene have been identified in most CS cases, but a precise genotype-phenotype correlation has not been described so far. Family screening is obligatory. The diagnosis is usually made during childhood and rarely in adulthood. In this context, imaging, and especially MRI plays a major role in the diagnosis of this syndrome. Surgical management is provided by pediatric surgeons or neurosurgeons. Familial case report. – Here, we present a family case report with CS requiring different neurosurgical management. The son, a 3-year-old boy, developed a tethered spinal cord syndrome associated to a lipoma of the filum terminale, a sacro-coccygeal teratoma and an anal adhesion. A combined surgical approach permitted a good evolution on the urinary and digestive functions despite a persistent fecal incontinence. The 2-year-old daughter presented with a cyst of the thyreoglossal tract infected and fistulized to the skin. She was also followed for a very small lipoma of the filum terminale that required a neurosurgical approach. The father, 44-year-old, manifested functional digestive and urinary disorders caused by a giant anterior sacral meningocele. The ligation of the neck of the cyst and aspiration of the liquid inside in full through a posterior partial approach permit a complete collapse of the cyst with an instantly satisfactory clinical outcome. Conclusion. – In these cases, cooperation between pediatric surgeons and neurosurgeons was crucial. The follow-up of these patients should be done in a spina bifida clinic. A geneticist evaluation must be offered to the patient in the case of a CS as well as a clinical evaluation of the relatives (parents, siblings). © 2018 Elsevier Masson SAS. All rights reserved.
1. Introduction In 1926, Kennedy was the first to report an association of sacral bony defect, anterior sacral meningocele and rectal polyp [1]. But it was only 50 years later that Currarino et al. described the triad as a complex syndrome [2]. Since then, approximately 300 pediatric cases and about 60 adult cases have been reported in the literature. Incidence is probably higher, because this pathology is little known by clinicians and many patients still go undiagnosed [3].
∗ Corresponding author. E-mail addresses: [email protected], [email protected] (N. Serratrice), lucile.fi[email protected] (L. Fievet), [email protected] (F. Albader), [email protected] (D. Scavarda), [email protected] (H. Dufour), [email protected] (S. Fuentes).
Currarino syndrome (CS) belongs to the group of neural malformations [4,5]. It results from an abnormal separation between the neuroectoderm and the endoderm [4]. A common embryological abnormality in the triad was suggested by Currarino, in which he was followed by several authors [6,7]. It is characterized by anorectal malformations, abnormalities in the sacral bone and presence of a presacral mass. It is complete if all 3 anomalies are present, and partial or incomplete in the presence of a hemisacrum associated with 1 of the other 2 malformations (presacral mass or anorectal abnormalities) [3–5]. CS is the only known form of hereditary sacral agenesis. The mode of inheritance is autosomal dominant in nearly half of the cases. Mutations of the HLXB9 homeobox gene (which encodes a transcription factor, the HB9 protein), located in the chromosomal 7q36 region, have been demonstrated in many cases of CS and in only 30% of sporadic cases. This suggests that other genes are involved in the syndrome [8,9]. Disease penetrance can be was
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incomplete and expressivity may vary, even within a given family. No correlation was found between phenotype and genotype [9–11]. Here, we present a family case report of CS, requiring multiple neurosurgical management. 2. Family case report The first case was a 3-year-old child followed for sacral agenesis (Fig. 1A). He was operated on with a multidisciplinary pediatric surgical approach: • pediatric neurosurgery for tethered spinal cord syndrome associated with lipoma of the filum terminale (Fig. 1B); • pediatric surgery for a sacrococcygeal teratoma and anal adhesion (Fig. 1C). The pathology confirmed the diagnosis of lipoma of the filum terminale. The rectal tumor comprised was adipose tissue, with no malignant aspect. Progression was satisfactory. The child had acquired cleanliness 3 months before surgery. Postoperatively, he developed disorders of urination (interruption of the urinary jet and drops at the end of miction), and diurnal urine leaks. The parents noticed that since the operation he no longer asked to use the toilet, but and urinated in his diaper. This is actually very unusual after surgery for a fibromatous lipoma. Renovesical ultrasound and cystography had returned to normal values. The child had urological follow-up due to the infectious risk in the urine. He developed fecal incontinence, with megarectum and megasigmoid on X-ray opacifi® cation. The Peristeen transanal irrigation system was introduced at a frequency of twice daily, with 350 mL water; this was very productive, and very well-tolerated, allowing discharge home with instructions to continue the procedure. Determination of blood tumor markers found alpha-fetoprotein at 1.94 ng/mL and betaHCG at < 0.04 ng/mL. The second case was the daughter, who was 2 years old when diagnosed. The situation was much more reassuring. The conus of the spinal cord was in a physiological position. There was a very small lipoma of the filum terminale that required neurosurgical management as a precaution (Fig. 2A and B). She also presented a similar image at the sacrum (Fig. 2C). The only manifestation was a cyst of the thyroglossal tract, infected and fistulized to the skin. Resection was completed by a Meunier stitch in the tongue base after a Sistrunk procedure. Pathology diagnosed a benign lesion. In the blood, alpha-fetoprotein was at 8.62 ng/mL and beta-HCG at < 0.04 ng/mL. The third case was the father of the children, who was 44 years old, with surgical history of anal imperforation at birth
operated on during the neo-natal period. He was followed for CS after the diagnosis in his son and due to the development of a very large pelvic mass. There were signs of pelvic organ compression with urinary disorder (pollakiuria), digestive disorder (chronic constipation treated with laxatives such as Macrogol) and poorly systematized root pain. There was also intracranial hypotension during certain efforts. MRI (Fig. 3A) found a voluminous anterior cystic tumor mass with meningocele and communication under the fourth sacral portion. A posterior approach was performed via partial lumbosacral laminectomy (Video). The giant anterior sacral meningocele was exposed extradurally. Levels S3, S4 and S5 were approached, and the collar of the cyst was found to be in communication with the dura, and was ligated with non-absorbable thread. Liquid inside the cyst was aspirated in totality. After centrifugation and MGG staining, the cystic fluid appeared hematic, with predominant red blood cells without any other identifiable abnormal cellular elements. Staphylococcus pasteuri, a multi-susceptible coagulase-negative Gram-positive organism, was detected in the liquid. The patient never presented clinical or biological signs of meningococcus or infectious syndrome, and did not receive any antibiotics. Pathology was consistent with meningocele, showing fibrous meningo-epithelial tissue. Postoperative MRI (Fig. 3B), early after surgery and 3 months later, showed complete regression of the meningocele. Neurological examination was normal. The patient no longer complained of constipation.
3. Discussion Currarino syndrome results from an abnormal separation between the neuroectoderm and the endoderm during embryogenesis [4]. In the normal state, the endodermal leaflet (future gastrointestinal tract) closes at about the same time as the neuroectoderm (future neural tube). The notochord and somites form the future vertebral bodies, thus isolating the neural tube from the primitive intestine. The persistence of an abnormal adhesion between the endoderm and the neuroectoderm prevents anterior fusion of the vertebral body, resulting in a “fistula” between the digestive and neural elements. Partial resorption of this “fistula” on the dorsal side leads to meningocele, and on the ventral side to an enteric cyst. Teratoma forms if the enteric and neural elements remain bound by elements of the mesoderm which have migrated into the presacral space during the development of the somites [2,6]. Anorectal malformations in CS comprise anal atresia, anorectal stenosis, anal ectopia, anal imperforation, rectourethral fistula or rectovaginal fistula [12].
Fig. 1. A. Initial radiograph of the pelvis: sacral agenesis. B. Tethered spinal cord syndrome associated with lipoma of the filum terminale (white asterisk) (MRI before surgery, sagittal view, T2 sequence). C. Anal adhesion.
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Fig. 2. Lipoma of the filum terminale (white asterisk), before (A) and after resection (B) (MRI sagittal views, T1 sequence). (C) Presacral mass (white asterisk).
Fig. 3. Anterior sacral meningocele (black asterisk) before surgery (A), and complete regression at 3 months post-surgery (B) (MRI sagittal views, T2 sequence).
Sacral abnormalities are present in 100% of cases [3,4]. All kinds of sacrococcygeal bone defect are possible, from simple lateral deviation of the coccyx to agenesis of the sacrum [6,13]. They are often asymptomatic, and discovered radiologically (regardless of age). The appearance of the sacrum in “cemetery” or sacral hemiagenesis is characteristic of the disease [14]. In addition to this aspect, there may also be total sacral agenesis with normal or diminished transverse pelvic diameter and absence of a few lumbar vertebrae, total sacral agenesis with intact lumbar vertebrae, partial sacral agenesis (presence of S1), hemisacrum or coccygeal agenesis. Spinal cord cone malformations are present in 66% of cases, which is why Crettole et al. [11], like other authors, preferred the term “Currarino syndrome” to that of “triad”. The malformation of the medullary terminal cone may take different forms: low bone marrow, thickened and shortened filum terminated by intraor even extra-spinal lipoma, syringomyelic cavity, hydromyelia and/or cystic dilation of the terminal cone. In almost half of cases, there is communication between the terminal cone of the cord and the presacral tumor, a potential source of serious or even lethal complications such as presacral abscesses and/or meningitis, making CS a severe disease [15,16], although spinal defects may remain asymptomatic for a long time. This necessitates MRI examination of the lumbosacral spine as soon as CS is suspected [17].
The presacral mass presents on ultrasound as a heterogeneous hypoechoic mass; it is MRI that specifies its nature, which may be: • an anterior meningocele (60%), which is an anterior extension through a vertebral bone defect of the dura mater and the arachnoid, constituting a retro- and/or sub-peritoneal pouch showing the same signal as that of the cerebrospinal fluid; • a benign teratoma (23%), which is a well-circumscribed mass with a capsule that is often thickened and sometimes calcified, the content of which is variable and may include liquid, solid, greasy or calcified elements, specified by MRI; • a dermoid cyst (6%), which appears as heterogeneous hypersignal on T1- and T2-weighted sequences due to the large amount of fat formed by the sebaceous glands; • or a lipoma, showing T1 and T2 hypersignal (1%), or a hamartoma, the association of the two being not exceptional. Malignant degeneration is rare, found only in 1% of cases [7]. Anomalies of the urogenital apparatus may be associated [18], as well as short limbs, lower-limb length discrepancy, missing toes or cardiovascular malformations. CS and Hirschsprung’s disease are associated in 10% of cases [19]. Imaging oriented by clinical findings establishes precise malformation status. Thus, standard X-ray reveals sacral agenesis, digestive opacification confirms and classifies anorectal malformation, and CT-scan completes lesion assessment. Medullary MRI is
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the examination of choice to confirm diagnosis and evaluate the extent of anomalies [12,17]. Close cooperation between pediatric surgeons and neurosurgeons is necessary to ensure correct surgical treatment, weighing the risks of malignant degeneration and of intraoperative nerve injury [20]. A familial tendency with autosomal dominant inheritance was observed in this family, as initially described by Yates et al. in 1983 [8]. Here, a known causative mutation in the HLXB9 gene was identified, and confirmed diagnosis. To date, a total of 70 HLXB9 mutations (including cytogenetic anomalies) have been identified [9]. Mutations in the HLXB9 gene were found in almost all reported cases of familial CS, and in approximately 30% of patients with sporadic CS [10]. HLXB9 was mainly studied as a developmental gene. This homeobox gene is also known as MNX1, and is involved in motor-neuronal development [21,22]. Experimental work on animal models showed that HLXB9 plays an essential role in early motor-neuron differentiation. Activation regulates the different stages of early embryonic development of the caudal part. The phenotypic variability observed in this family, carrying the same mutation, can be explained by the involvement of other genes [10,13,14,23,24]. The present study suggests that mutational analysis should be systematically performed in patients with suspicion of CS. Precise genetic counseling is still difficult, due to the lack of genotype/phenotype correlation and the variability of expression in carriers. In this context, MRI should be used as a screening tool in members of a CS family with genetic mutation, in order to avoid morbidity and mortality [25]. It is also worth mentioning that constipation can be a severe problem in CS patients, and especially around childbirth [26]. The true cause sometimes is difficult to elucidate, and may be a combination of anorectal malformation, anterior myelomeningocele and tethered cord. Anterior meningocele surgery is not necessarily indicated in CS, but only in the rare case in which bulk is expected to cause urinary or digestive disorders [27]. Here, we chose posterior minimally invasive neurosurgery for the anterior myelomeningocele. The classical technique is well-established [28]. Here, we went further, performing a minimally invasive sacral neurosurgical approach. We exposed the giant anterior sacral meningocele extradurally through a posterior partial opening. Levels S3, S4 and S5 were then approached, revealing the collar of the cyst in communication with the dura, and the collar was ligated with non-absorbable thread. Liquid inside the cyst was aspirated in totality, which quickly contributed to good digestive functional progression. In conclusion, this approach appeared safe and well-tolerated. Certain authors also described endoscopic management for giant anterior sacral meningocele [29]. Tethering the spinal cord is commonly associated with CS, in 70% of cases [30]. Here, we chose a classical technique, as previously described [31,32]. This is the first time that a thyroglossal cyst has been described in CS. No correlation is reported in the literature between CS and the formation of thyroglossal cysts, and the two are probably unrelated. Future literature will tell whether other patients develop this type of congenital malformation. S. pasteuri is a coagulase-negative Gram-positive organism which is emerging as an agent of nosocomial infection and bloodderivative contamination, though its role in causing human disease remains largely controversial. Despite the paucity of isolates recovered, this bacterium recently appeared to be resistant against several classes of antibiotic compounds [33]. This is the first time that this germ has been highlighted in CS. The patient was not symptomatic, clinically or biologically, so it was decided not to treat him with antibiotics.
4. Conclusion We presented a family case of CS caused by a classical HLXB9 gene mutation transmitted in an autosomal dominant mode. The son, daughter and father required different neurosurgical treatments. The son, a 3-year-old boy, developed tethered spinal cord syndrome associated with lipoma of the filum terminale, sacrococcygeal teratoma and anal adhesion. A combined surgical approach resulted in good progression of urinary and digestive function despite persistent fecal incontinence. The 2-year-old daughter presented with a cyst of the thyroglossal tract, infected and fistulized to the skin. She was also followed for a very small lipoma of the filum terminale that required a classical neurosurgical intervention. The father, 44 years old, showed digestive and urinary functional disorders, caused by a giant anterior sacral meningocele. Ligation of the cyst neck and total aspiration through a partial posterior approach achieved complete collapse of the cyst, with instantly satisfactory clinical impact. Minimally invasive neurosurgery of the anterior myelomeningocele appeared safe. Cooperation between pediatric surgeons and neurosurgeons is essential. Follow-up should be performed in a spina bifida clinic. Genetic evaluation must be offered to the patient in case of CS, as well as clinical evaluation of relatives (parents, siblings). Disclosure of interest The authors declare that they have no competing interest. Acknowledgments We are grateful to the co-authors for reading over the article. Appendix A. Supplementary data Supplementary data (video) associated with this article can be found, in the online version, at https://doi.org/10.1016/ j.neuchi.2018.01.009. References [1] Kennedy RLJ. An unusual rectal polyp: anterior sacral meningocele. Surg Gynecol Obstet 1926;43:803–4. [2] Currarino G, Coln D, Votteler T. Triad of anorectal, sacral, and presacral anomalies. AJR Am J Roentgenol 1981;137(2):395–8, http://dx.doi.org/10.2214/ajr.137.2.395. [3] Emans PJ, Kootstra G, Marcelis C, Beuls E, Enest Van Heurn LW. The Currarino triad: variable expression. J Pediatr Surg 2005;58(5):924–9, http://dx.doi.org/10.1227/01.NEU.0000209945.87233.6A [discussion 924–9]. [4] Otagiri N, Matsumoto Y, Yoshida Y. Posterior sagittal approach for Currarino syndrome with anterior sacral meningocele: a case report. J Pediatr Surg 2000;35(7):1112–4, http://dx.doi.org/10.1053/jpsu.2000.7838. [5] Samuel M, Hosie G, Holmes K. Currarino triad: diagnostic dilemma and a combined surgical approach. J Pediatr Surg 2000;35(12):1790–4, http://dx.doi.org/10.1053/jpsu.2000.19258. [6] Kirks DR, Merten DF, Filston HC, Oakes WJ. The Currarino triad: complex of anorectal malformation, sacral bony abnormality, and presacral mass. Pediatr Radiol 1984;14(4):220–5. [7] de Lagausie P, Munck A, Hertz PL, Aigrain Y, Dupont A, Boureau M. Currarino syndrome: an association not to be overlooked. Arch Fr Pediatr 1991;48(9):631–64. [8] Yates VD, Wilroy RS, Whitington GL, Simmons JC. Anterior sacral defects: an autosomal dominantly inherited condition. J Pediatr 1983;102(2):239–42. [9] Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 1998;20(4):358–61, http://dx.doi.org/10.1038/3828. [10] Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, et al. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 2000;66(1):312–9, http://dx.doi.org/10.1086/302723. [11] Cretolle C, Zerah M, Jaubert F, Sarnacki S, Revillon Y, Lyonnet S, et al. New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases). J Pediatr Surg 2006;41(1):126–31, http://dx.doi.org/10.1016/j.jpedsurg.2005.10.053 [discussion 126–31].
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Please cite this article in press as: Serratrice N, et al. Multiple neurosurgical treatments for different members of the same family with Currarino syndrome. Neurochirurgie (2017), https://doi.org/10.1016/j.neuchi.2018.01.009