Sacral Defect Research Articles

Letter to the Editor Infection caused by Aeromonas sobria , complicated by lower extremity paraplegia and the cauda equine syndrome in a patient with well-controlled type 2 diabetes

Letter to the Editor Infection caused by Aeromonas sobria , complicated by lower extremity paraplegia and the cauda equine syndrome in a patient with well-controlled type 2 diabetes

LIMB BODY WALL COMPLEX IN TWO HETEROZYGOTIC TWINS: A CASE REPORT

Introdution. Limb-Body Wall Complex (LBWC) is a congenital defect which includes at least two of the following characteristics: abdominal and/or thoracic body wall defects, exencephaly or encephalocoele with or without craniofacial defects (56%) and spinal defects associated with marked vertebral or sacral defects (95%). Case Report. We present a case report of an infant with LBWC, borned by diamniotic twin pregnancy. A prenatal ultrasound reported an healthy fetus and a fetus with multiple malformations. At birth we found a big abdominal wall defect, absence of scrotal sac and testicles, asymmetric chest and no major deformities in craniofacial region. At 2 hours of life, we removed the amniotic sac, we put the stomach and the spleen in the abdominal cavity, which is virtual, and positioned a spring-loaded silo. At 15th day of life we had complete reduction of the intestinal loops and liver and we closed the wall defect with a prosthesis and a cryopreserved skin. The general conditions of the patient, very severe since birth, became progressively worse and he died in the 21st day of life. Discussion. Once the diagnosis is done the physician should offer the parents a therapeutic abortion, and above all, in case they want to carry the pregnancy to term, we need to prepare them to the severity of the malformation and the high probability of death.

In Utero Closure of Myelomeningocele Does Not Improve Lower Urinary Tract Function

Recent data comparing prenatal to postnatal closure of myelomeningocele showed a decreased need for ventriculoperitoneal shunting and improved lower extremity motor outcomes in patients who underwent closure prenatally. A total of 11 children whose spinal defect was closed in utero were followed at our spina bifida center. We hypothesized that in utero repair of myelomeningocele improves lower urinary tract function compared to postnatal repair. Eleven patients who underwent in utero repair were matched to 22 control patients who underwent postnatal repair according to age, gender and level of spinal defect. Urological outcomes were retrospectively reviewed including urodynamic study data, need for clean intermittent catheterization, use of anticholinergic agents and prophylactic antibiotics, and surgical history. The need for ventriculoperitoneal shunting or spinal cord untethering surgery was also reviewed. Mean followup was 7.2 years for patients who underwent in utero repair and 7.3 years for those who underwent postnatal repair. Mean patient age at compared urodynamic studies was 5.9 years for in utero repair and 6.0 years for postnatal repair. The in utero repair group was comprised of 5 lumbar and 6 sacral level defects with equal matching (1:2) in the postnatal repair cohort. There were no differences between the groups in terms of need for clean intermittent catheterization, incontinence between catheterizations or anticholinergic/antibiotic use. Urodynamic parameters including bladder capacity, detrusor pressure at capacity, detrusor overactivity and the presence of detrusor sphincter dyssynergia were not significantly different between the groups. There was no difference in the rate of ventriculoperitoneal shunting (p = 0.14) or untethering surgery (p = 0.99). While in utero closure of myelomeningocele has been shown to decrease rates of ventriculoperitoneal shunting and improve motor function, it is not associated with any significant improvement in lower urinary tract function compared to repair after birth.

Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype

The Currarino syndrome (CS) consists of a sacral defect, an anorectal malformation and a pre-sacral mass. It manifests as an autosomal dominant congenital malformation in familial settings, with varying penetrance. The disease-causing gene, Motor neuron and pancreas homeobox-1 (MNX1), is known to be mutated in almost all familial cases, but due to the lack of genotype–phenotype correlation, there is a need for better clinical and molecular genetic characterization of the CS. Here, we report two novel mutations in the MNX1 gene in two cases. Each case was found to be familial upon further investigation of the other members of each family. The first affected case (a one year old boy) exhibited a missense mutation, p.Phe289Ser, in exon 3 in the highly conserved third helix of the homeodomain, which is considered to affect the DNA binding property and transcription regulation of the protein. The mutation seemed to display full penetrance of the disease in this family, but with different time of on-set. The second affected case (a 5months old boy) displayed a 13 basepair insertion in exon 1, creating a complex frameshift mutation which results in a premature truncation of the protein that lacks the third helix homeodomain. Other members of the boy's family, who harbored the same mutation, were found to be completely asymptomatic. In conclusion, we detected two novel mutations in the MNX1 gene in cases with CS, which supports mutational analysis in the diagnosis of CS, even though the variability in the genotype and phenotype correlation maintains.

Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation

Currarino syndrome (CS) is characterized by the triad of partial sacral defect, anorectal malformation, and presacral mass and has been recently reported to be associated with mutations in the HLXB9 gene, which have been suggested to be the genetic background of CS. Phenotypic expression of the HLXB9 gene mutation in a CS family varies from an incomplete to a complete triad. We present variable clinical and imaging features of CS in three siblings with genetically identified HLXB9 mutation. Clinical presentation, management and outcome were also reviewed, and we suggest that magnetic resonance imaging should be used as a screening tool in the members of a CS family with genetic mutation in order to avoid morbidity and mortality from an undiagnosed presacral mass.

Adult with sacral lipomyelomeningocele covered by an anomalous bone articulated with iliac bone: Computed tomography and magnetic resonance images

The present paper reports and discusses a case of sacral lipomyelomeningocele with an anomalous long bone articulating with the left iliac bone in a 40-year-old female. That patient had a monozygotic twin sister who had normal spine. The findings were incidental during an evaluation for a urinary tract infection. The computed tomography (CT) and magnetic resonance (MR) images revealed sacral dysraphism, lipomyelomeningocele, tethered spinal cord, and profound subcutaneous fat in the sacrococcygeal region. In addition, an anomalous bony strut was demonstrated on the posterior aspect of the sacrum, covering the sacral defect and the associated lipomyelomeningocele. The 3-D CT images of the anomalous bone associated with the sacral lipomyelomeningocele and the putative embryologic process are presented with a review of the literature.

Urodynamic Findings in Patients With Currarino Syndrome

Currarino syndrome is an inherited disorder consisting of a triad of anorectal anomaly, sacrococcygeal defect and presacral mass. We evaluated the urological issues in patients with Currarino syndrome and sought to determine whether spinal cord detethering improves urinary tract function. We retrospectively reviewed 14 patients diagnosed with Currarino syndrome. We evaluated urinary signs/symptoms and urodynamic findings before and after spinal cord detethering. All patients with Currarino syndrome having a sacral defect and presacral mass were diagnosed between birth and 6 years. Of the patients 86% had a tethered spinal cord that was surgically detethered between 8 months and 6 years (average 3 years). Overall 10 of 12 children who underwent surgery had voiding complaints postoperatively, including urgency, frequency and incontinence. Five patients had recurrent urinary tract infections, of whom 3 had vesicoureteral reflux that resolved spontaneously. Three patients had mild unilateral hydronephrosis without reflux. Ten of 12 patients who underwent spinal cord detethering underwent comprehensive urodynamic evaluation. Of the 5 patients who underwent preoperative and postoperative urodynamic evaluation 3 showed improvement with resolution of detrusor overactivity or dyssynergia postoperatively, and 2 demonstrated no change. Of the 5 patients who underwent only postoperative urodynamic evaluation 4 had abnormal findings, including small capacity, poor compliance, detrusor overactivity, detrusor sphincter dyssynergia and/or high voiding pressure. No progressive denervation was seen on electromyography preoperatively or postoperatively. Currarino syndrome is a rare congenital disorder with few published reports regarding the long-term implications. Although no solid conclusions could be drawn regarding urodynamic improvement postoperatively due to our small sample size, spinal cord detethering did not lessen ongoing voiding complaints in the study patients.

Utility of the omentum in sacral reconstruction following total sacrectomy due to recurrent and irradiated giant cell tumour of the spine

Reconstruction of the lumbosacral region after surgical excision of irradiated and recurrent spinal giant cell tumours remains a challenging problem. In this case report, we describe the use of the pedicled omentum flap in reconstruction of an irradiated and infected wide sacral defect of a 19-year-old male patient. The patient had radiotherapy and subsequent wide surgical resection after recurrence of the tumour. A myocutaneous flap from the gluteal area had failed previously. Local flap options could not be used because of the recent radiotherapy to the gluteal area. Since the patient had a laparotomy for tumour resection and a colostomy, abdominal muscles were not considered reliable for reconstructive procedures. A pedicled omentum flap was chosen as a reconstructive option because of its rich blood supply, large surface area, and angiogenic capacity. This report aims to describe the use of the pedicled omentum flap for reconstruction of the lumbosacral area following surgical resection of a spinal tumour, when gluteal and abdominal flap options for reconstruction are jeopardised.

Presacral teratoma in a Curarrino syndrome woman with an unreported insertion in MNX1 gene

Objective Currarino syndrome (CS) comprises a presacral mass, anorectal malformation, and a sacral bony defect. It is rarely reported in the gynecological field. Case Report We describe here the case of a 26-year-old married woman with Currarino syndrome who presented with a presacral teratoma and a previously unreported insertion in MNX1 gene. She had had a pelvic teratoma diagnosed by laparoscopy 8 years previously. She was referred to our clinic because of the increasing size of the teratoma and associated compression symptoms. Computed tomography demonstrated a heterogeneous 12 cm mass in the presacral region. Spina bifida at S2eS5 was also noted. Laparotomy confirmed the diagnosis of presacral teratoma. Genetic analysis disclosed a triple CGC repeat insertion in exon 1 of MNX1, resulting in three in-frame shifts encoding for the amino acid alanine. No siblings had known similar symptoms. Conclusion Currarino syndrome is known to be an autosomal dominant disorder. The presence of constipation can lead to a diagnosis of the syndrome early in childhood. In sporadic cases diagnosis is late because of atypical symptoms. Delayed treatment of a presacral tumor may cause serious complications such as central nervous system infection or subsequent neurological dysfunction. In clinical practice, a presacral tumor with a sacral bony defect may indicate Currarino syndrome. Genetic analysis of the family may provide information on the hereditary traits of specific MNX1 mutation.

Currarino Syndroma, initially misdiagnosed and treated like megacolon congenitum

AbstractCurrarino syndrome was first described as a triad by Guido Currarino, an American radiologist in 1981. It is an autosomal dominant hereditary disease known by the triad of anorectal stenosis, anterior sacral defect, and a presacral mass that is most often an anterior sacral meningocele.We represent a 3 year boy with refractory constipation from birth, which had been wrongly diagnosed and treated as Hirschsprung’s disease since early childhood. The patient underwent urgent colostomy because of water intoxication due to bowel irrigation, and following investigations (CT, MRI) revealed anorectal anomaly and presacral mass compatible with Curarrino’s syndrome.Definitive operation was done with perineal approach, posterior sagittal anorectoplasty, with interval colostomy closure 2 months after perineal operation. An uncomplicated postoperative recovery ensued. The patient’s bowel habits successfully returned to normal soon after the operation. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are rectal examination, sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of Currarino syndrome families, CT scan, magnetic resonance (MR) evaluation of patient spine and pelvis and suction rectal biopsies. If the mass is a meningocele, colostomy and neurosurgical exploration should precede anoplasty due to the risk of meningitis.

Laparoscopic Abdominoperineal Resection with Open Posterior Cylindrical Excision and Primary Transpelvic VRAM Flap

In our own experience over the last 15 years, the primary transpelvic vertical rectus abdominis myocutaneous (VRAM) flap is a reliable tool to prevent perineal wound complications after cylindrical excision in radical anorectal tumor surgery. To minimize the operative trauma in such patients, we performed a laparoscopic abdominoperineal resection combined with an open posterior cylindrical excision and a primary transpelvic vertical rectus abdominis myocutaneous (VRAM) flap via a minimal supraumbilical incision, which is described here for the first time. A 49-year-old patient with recurrent anal cancer received radiochemotherapy with curative intention and underwent laparoscopic abdominoperineal rectal excision with posterior cylindrical excision combined with a primary transpelvic vertical rectus abdominis myocutaneous (VRAM) flap. The rectal stump was clipped and pulled through the pelvis together with the VRAM flap, which was then placed into the sacral defect. We found that the combined operative technical approaches with laparoscopy and minimal incisions for flap harvest and cylindrical excision were technically feasible, and no mesh was needed to close the small-sized laparotomies. We achieved complete tumor removal and flap perfusion, and healing was uneventful. The patient showed no relapse at 3 years postoperative. Our report of the operative technique shows that the combination of minimally invasive methods together with transpelvic VRAM flap transposition is technically feasible, can be performed with operative efficiency, and may become a valuable tool to minimize perioperative complications in advanced colorectal tumor surgery.

Combined latissimus dorsi and serratus anterior flaps for pelvic reconstruction

In recurrent pressure sores, adjacent tissue has already been consumed by multiple surgeries. Additional problems are several co-morbidities of patients. Especially, severe atherosclerosis would be a contraindication for using free flaps. However, microsurgical techniques allow circumventing these limitations and preparing even severely atherosclerotic vessels. We performed a total of eight sacral pressure sore coverage in our standardized fashion, using the free combined latissimus dorsi and serratus anterior free flaps. All patients had severe atherosclerosis and needed large soft tissue coverage of the sacral defects. Five patients presented after bowel resection, three with recurrent sacral pressure sores. The average follow-up was 12 months. Postoperatively, all patients were allowed to be prone on the operated area. One minor wound dehiscence was sutured in local anesthesia. CT imaging analysis of the pelvis showed complete void space coverage. The combined latissimus dorsi and serratus anterior flaps are a valuable tool for pelvic reconstruction in our hands. In addition, severe atherosclerosis should not be considered an obstacle to microsurgery and the use of free flaps.

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have an autosomal recessive inheritance and other families’ presentation of the syndrome strongly supported an autosomal dominant inheritance. We report OAV in a female infant presenting with tracheomalacia, diaphragmatic hernia, encephalomeningocele, sacral neural tube defect, and cardiac defect and her brother having no more than dysmorphic features. The mode of inheritance in this family supports an autosomal recessive inheritance where the transmission was from normal first-degree consanguineous parents to one of the sons and to the daughter. This report further broadens the clinical presentation and symptoms of OAV and supports the hypothesis advancing OAV as a genetically heterogeneous disorder.

OP25.04: Does proximity to the transducer influences accuracy of fetal lateral ventricle volume measurement by transabdominal 3D sonography compared to MRI?

Objectives: The prognosis of infants with open spina bifida depends upon the location and extent of the lesion. This study aimed to determine the effectiveness of the 3D sonography on the prediction of upper pole of spina bifida during second trimester anomaly scan. Methods: Fetuses with spina bifida diagnosed during the second trimester from the October 2009 to the April 2010 were analyzed in two referral centers. Volumes were acquired starting from a midsagittal scan. The upper level of spina bifida was identified in multiplanar mode and maximum mode by comparing axial and sagitttal views, using as reference either the last rib (corresponding to T12) or the sacroiliac joint (S1). The diagnosis made on 3D was confirmed with pathological examination of aborted specimens and postnatal magnetic resonance imaging. Results: Fourteen fetuses were analyzed and the mean gestational age were 20.14 ± 2.11 (17–24). Six fetuses had thoracic spina bifida, six had lumbar defects and two had purely sacral defects. All had cranial signs of Arnold-Chiari malformation including lemon sign, banana sign and ventriculomegaly. Talipes was present in 12/14. Multiplanar mode was superior to the maximum mode in the identification of spina bifida level. This was correctly diagnosed in 10/14 (71, 43%). In the four remaining cases the sonographic estimate was within one vertebral segment (28, 57%). Conclusions: 3D sonography with multiplanar mode is an accurate tool in the diagnosis of open spina bifida level.

OP25.03: The usefulness of 3D ultrasonography in determining the level of open spina bifida in the second trimester

Objectives: The prognosis of infants with open spina bifida depends upon the location and extent of the lesion. This study aimed to determine the effectiveness of the 3D sonography on the prediction of upper pole of spina bifida during second trimester anomaly scan. Methods: Fetuses with spina bifida diagnosed during the second trimester from the October 2009 to the April 2010 were analyzed in two referral centers. Volumes were acquired starting from a midsagittal scan. The upper level of spina bifida was identified in multiplanar mode and maximum mode by comparing axial and sagitttal views, using as reference either the last rib (corresponding to T12) or the sacroiliac joint (S1). The diagnosis made on 3D was confirmed with pathological examination of aborted specimens and postnatal magnetic resonance imaging. Results: Fourteen fetuses were analyzed and the mean gestational age were 20.14 ± 2.11 (17–24). Six fetuses had thoracic spina bifida, six had lumbar defects and two had purely sacral defects. All had cranial signs of Arnold-Chiari malformation including lemon sign, banana sign and ventriculomegaly. Talipes was present in 12/14. Multiplanar mode was superior to the maximum mode in the identification of spina bifida level. This was correctly diagnosed in 10/14 (71, 43%). In the four remaining cases the sonographic estimate was within one vertebral segment (28, 57%). Conclusions: 3D sonography with multiplanar mode is an accurate tool in the diagnosis of open spina bifida level.

Extreme hypoglycorrhachia: not always bacterial meningitis

A 55-year-old man presented with 4 months of chronic meningitis, neutrophilic pleocytosis and extreme hypoglycorrhachia-an abnormally low concentration of glucose in the cerebrospinal fluid (CSF). A previous neurological work-up had revealed no noteworthy abnormalities. Despite the brief improvements that were seen after numerous trials of antibiotics and corticosteroids, the symptoms relapsed soon after corticosteroids were discontinued. Lumbar puncture revealed cholesterol crystals in the CSF and imaging studies revealed a sickle-shaped sacrum, partial rectal stenosis, and a communicating presacral meningocele with an epidermoid-dermoid mass. Extreme hypoglycorrhachia seems almost always to be bacterial in origin, but its differential diagnosis is, nevertheless, extensive. The definition, physiology, pathophysiology and differential diagnosis of hypoglycorrhachia are reviewed here. Physical examination, laboratory testing, multiple imaging studies including CT and MRI of the brain and spinal cord, as well as myelography and CSF analysis. Cholesterol-induced leptomeningitis in a patient with Currarino syndrome, a triad that consists of sacral bone defects, congenital hindgut anomaly, and a presacral tumor. The patient was initially treated with multiple antimicrobials and steroids. However, once the cholesterol crystals and communicating presacral cyst were identified, the condition was successfully managed with surgically resection of the cyst.

Complete Currarino Triad Presenting with Diarrhea in a 7-Month-Old Girl

The Currarino triad is a complex genetic disorder characterized by multiple caudal anomalies. Currarino et al first described this syndrome in 1981 as a sacral bony defect, presacral mass, and an anorectal malformation. Patients with this disorder usually present with constipation and characteristic radiological findings. Early diagnosis is vital for improving patient prognosis and quality of life. We report a case of complete Currarino triad in a 7-month-old girl with an unusual presentation of diarrhea, who was later found to have an imperforate anus with rectoperianal fistula, a presacral lipomyelomeningocele, and sacral hypoplasia.

Reconstruction of sacral defects following necrosis of buttocks due to embolization of internal iliac artery using a transverse lumbar flap

Fractures of the pelvis associated with uncontrollable hypotension are managed by stabilization of fractures and arteriographic embolization of the bleeding vessels. Embolization of these arteries may result in necrosis of the buttocks. The use of a transverse lumbar artery-based flap can be used for repair of these defects.

One-Staged Subtotal Sacrectomy for Primary Sacral Tumor

Sacrectomy with adequate margins is challenging because of the complexity of the surgical approach and morbidities. Two-staged sequential approach, therefore, has been advocated. This study was designed to demonstrate the modification of this technique. This is a case presentation of a 45-year-old man with chordoma involving the lower border of S2, who underwent one-staged subtotal sacrectomy. The technique involved the following: midline incision, mobilization of the rectum, construction of a colostomy and the modified Hartmann stump with intact superior rectal vessels, ligation of internal iliac arteries, ligation of all branches connecting to external iliac veins resulting in "complete isolation" of the external iliac veins, dissection of presacral tissue, anterior osteotomy at the S1-S2 junction and the sacroiliac joints, and abdominal closure. The posterior approach involved a three-limbed incision, dissection of the gluteus muscle and ligaments from the sacrum, subperiosteal dissection, S1 laminectomy, posterior osteotomy corresponding with the anterior osteotomy line with preservation of S1 nerves, division of S2-S4 nerves from sciatic nerves, and specimen removal. Closure of the large sacral defect was undertaken using the Hartmann stump and bilateral gluteus maximus flaps. En bloc resection with free margins without tumor rupture was accomplished. Operative time was 12 hours. Blood transfusion was 6 units. This patient had a good recovery without complications. He was able to ambulate within 1 week and walk normally within 1 month. No recurrence was found at a 24-month-follow-up. One-staged sacrectomy can be safely performed, obtaining the satisfactory outcomes.

Variable presentations of Currarino syndrome in three members of the same family

The article presents an autosomal dominant Currarino syndrome with incomplete penetrance in three out of four members of the same family. The mother had only a bony sacral defect and no other signs. In the older daughter, the syndrome was completely developed with presacral cystic teratoma, a sacral defect and abdominal discomfort. The younger daughter had no clinical or imaging features of the disease. The only son harboured presacral meningocele, urinary stenosis and a sacral defect. The daughter and son with developed variants of the syndrome were successfully operated on and are now symptom free.