Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.

Introduction: Currarino syndrome is a rare syndrome with multiple congenital anomalies including sacral agenesis, anorectal malformation, and presence of a presacral mass. Currarino syndrome is considered to be an autosomal dominant inherited disorder, with low penetrance and variable expressivity, but sporadic cases have also been reported. Mutations in MNX1 gene, mapped to 7q36, are the main causes of this syndrome. To the best of our knowledge, less than 400 cases of this syndrome have been mentioned in the literature. Currarino syndrome is often seen in children and considered to be rare in adults; it is mostly found as incidental finding and suspected to be underdiagnosed. Case Presentation: Recognizing the rarity of this syndrome, we present here two siblings with incomplete form of Currarino syndrome combined with microcephaly and intellectual disability. Banding and molecular cytogenetics were used to characterize the origin of this disorder. Banding cytogenetics together with molecular cytogenetics revealed an unbalanced translocation t(7;21)(q36.2;p11.3)mat, leading to a deletion of the 7q36 region in both affected children. Conclusion: This report highlights the importance of cytogenetics in diagnosis of rare genetic syndromes, with impact on genetic counseling of patients and their families. To the best of our knowledge, this is the first Moroccan Currarino syndrome case due to an unbalanced translocation leading to a der(7)t(7;21)(q36.2;p11.3). Also, this is the first Currarino syndrome case associated with a deletion in 7q36 to be reported in Morocco.

Variability in Surveillance Strategies Following Resection of Sacrococcygeal Teratoma.

INTRODUCTION: Surveillance following sacrococcygeal teratoma (SCT) resection varies. The purpose of this study was to describe the clinical characteristics and outcomes of patients undergoing SCT resection and examine current institutional practices to detect recurrence. METHODS: A single-institution retrospective review of children who underwent resection of an SCT from January 1, 2010 to December 31, 2020 was performed. Data were summarized and surveillance strategies compared between histopathologic subtypes using nonparametric methods. RESULTS: Thirty six patients (75.0% female) underwent SCT removal at a median age of 8 d. Histopathology revealed 27 mature teratomas (75.0%), eight immature teratomas (22.2%), and one malignant germ cell tumor (2.8%). Median postoperative follow-up was 3.17 y (interquartile range [IQR]: 2.31-4.38 y). Patients had a median of 2.32 clinic visits per year (IQR: 2.00-2.70), alpha-fetoprotein levels were obtained at a median of 2.01 times per year (IQR: 0-1.66), and surveillance imaging was performed at a median of 2.31 times per year (IQR: 0-2.84). Patients with immature teratomas had alpha-fetoprotein laboratories obtained more frequently than patients with mature teratomas (3.10 times/year versus 0.93 times/year, P = 0.001). There was no significant difference in the number of imaging studies obtained between groups. Two patients (5.6%) developed recurrence, which were identified on magnetic resonance imaging at 191 and 104 d postresection, respectively. CONCLUSIONS: Postoperative surveillance practices varied widely. Recurrence was noted in a single malignant case in the first year following resection. Multi-institutional studies are needed to determine the optimal surveillance strategy to detect recurrence of SCT.

Managing Recurrent Teratoma in Currarino Syndrome.

To the best of our knowledge, this is the first reported case of a recurrent presacral tumor in Currarino syndrome. Currarino syndrome is a rare disease usually found in childhood with a triad of sacral agenesis, anorectal malformation, and presacral tumor. However, it can often remain undiscovered until adulthood. Currarino syndrome is generally diagnosed during childhood in the setting of recurrent meningitis and is often suspected when there is a family history. Occasionally, it is diagnosed in adulthood through incidental imaging or due to investigations for back pain and chronic constipation. MRI is the recommended imaging modality in this disease process, as it can better help differentiate soft tissue. The tumor can be resected through either the transabdominal approach or the posterior approach (Kraske procedure). We present a 52-year-old female patient who was diagnosed with Currarino syndrome when she was one year old due to recurrent meningitis and surgical resection of a presacral mass and was asymptomatic until she developed back pain and constipation. Her symptoms were investigated with an MRI, revealing a recurrence of a presacral tumor, and she subsequently underwent a Kraske procedure. The patient is currently under annual surveillance, and the residual tumor has remained stable. There are currently no surveillance guidelines after resection of a presacral tumor in Currarino Syndrome. However, follow-up surveillance should be considered.

Case report: Sacral agenesis in two boxer dogs: clinical presentation, diagnostic investigations, and outcome.

Two boxer dogs from the same litter were presented at 3 months of age for urinary and fecal incontinence. Both dogs had an abnormal tail consisting of a small stump, an atonic anal sphincter, and absent perineal reflex and sensation. Neurological evaluation was indicative of a lesion of the cauda equina or sacral spinal cord. Radiology and CT scan of the spine displayed similar findings in the two dogs that were indicative of sacral agenesis. Indeed, they had 6 lumbar vertebrae followed by a lumbosacral transitional vertebra, lacking a complete spinous process, and a hypoplastic vertebra carrying 2 hypoplastic sacral transverse processes as the only remnant of the sacral bone. Caudal vertebrae were absent in one of the dogs. On MRI, one dog had a dural sac occupying the entire spinal canal and ending in a subfascial fat structure. In the other dog, the dural sac finished in an extracanalar, subfascial, well-defined cystic structure, communicating with the subarachnoid space, and consistent with a meningocele. Sacral agenesis-that is the partial or complete absence of the sacral bones-is a neural tube defect occasionally reported in humans with spina bifida occulta. Sacral agenesis has been described in human and veterinary medicine in association with conditions such as caudal regression syndrome, perosomus elumbis, and Currarino syndrome. These neural tube defects are caused by genetic and/or environmental factors. Despite thorough genetic investigation, no candidate variants in genes with known functional impact on bone development or sacral development could be found in the affected dogs. To the best of the authors' knowledge, this is the first report describing similar sacral agenesis in two related boxer dogs.

Currarino Syndrome Presenting in Adulthood: A Rare Case.

Currarino syndrome or Currarino triad is a complex condition consisting of congenital anomalies. The triad consists of anterior sacral mass (meningocele, teratoma or dermoid/epidermoid cyst), sacral bone defect (hypoplasia, agenesis ), anorectal malformation/congenital anorectal stenosis. This condition is named after Dr Guido Currarino, an Italian-American paediatric radiologist, who first described it in 1975. This needs a multidisciplinary treatment approach. We describe a case of successfully managed young adult with Currarino syndrome. The latest artificial intelligence tool, Chat Generative Pre-Trained Transformer (ChatGPT), helped to write this case report.

Selection of operative approach in children with Currarino syndrome.

PURPOSE: To summarize the experience of surgical treatment of children diagnosed with Currarino syndrome, with an emphasis on the selection of an optimal operative approach. METHODS: The clinical materials of patients diagnosed with Currarino syndrome were recorded. Special attention was given to the operative management, particularly the different routes for operation. The type of ARM was the critical point. The Rintala score was used for the evaluation of bowel function. RESULTS: The medical records of 26 patients were reviewed. Seven were male, and 19 were female, with a mean age of 19.38 ± 13.80 months. The standard posterior sagittal approach (SPS) group included three perineal fistulae, one anal stenosis, one retraction of the rectum after anoplasty for vestibular fistula, one ARM with no fistula, one rectourethral fistula, and one cloaca. In the limited posterior sagittal approach (LPS) group, there were 13 perineal fistulae, one displacement of the rectum, and one retraction of the rectum after anoplasty for the vestibular fistula. In addition, the transanal approach (TA) and anterior sagittal approach (AS) were also used. The mean follow-up time was 39.48 ± 26.84 m. The Rintala score was 16.74 ± 2.93. CONCLUSION: For a perineal fistula, SPS or LPS should be used to reach anoplasty and remove the presacral mass. For a vestibular fistula, the AS or LPS should be chosen. For anal stenosis, SPS or LPS should be used.

Presacral mature cystic teratoma associated with Currarino syndrome in an adolescent with androgen insensitivity: illustrative case.

BACKGROUND: Currarino syndrome is a rare disorder that classically presents with the triad of presacral mass, anorectal malformation, and spinal dysraphism. The presacral mass is typically benign, although malignant transformation is possible. Surgical treatment of the mass and exploration and repair of associated dysraphism are indicated for diagnosis and symptom relief. There are no previous reports of Currarino syndrome in an androgen-insensitive patient. OBSERVATIONS: A 17-year-old female patient presented with lack of menarche. Physical examination and laboratory investigation identified complete androgen insensitivity. Imaging analysis revealed a presacral mass lesion, and the patient was taken to surgery for resection of the mass and spinal cord untethering. Intraoperative ultrasound revealed a fibrous stalk connecting the thecal sac to the presacral mass, which was disconnected without the need for intrathecal exploration. The presacral mass was then resected, and pathological analysis revealed a mature cystic teratoma. Postoperatively, the patient recovered without neurological or gastrointestinal sequelae. LESSONS: Diagnosis of incomplete Currarino syndrome may be difficult but can be identified via work-up of other disorders, such as androgen insensitivity. Intraoperative ultrasound is useful for surgical decision making and may obviate the need for intrathecal exploration during repair of dysraphism in the setting of Currarino syndrome.

Currarino Syndrome: A Rare Case Report of Sepsis and Its Management.

Currarino syndrome (CS) is characterized by a triad of anomalies consisting of: a sacral bone defect, anorectal malformations and a pre-sacral mass. We present the case of an adult patient with a medical history of CS who presented with septic shock and was subjected to an emergency laparotomy due to severe abdominal distension. In this particular case, we underline the importance of immediate surgery on the patient's outcome as well as the considerable role of landiolol in controlling the heart rate with no further deterioration of blood pressure in this patient presenting with atrial fibrillation and sepsis.

Case report of experience of misdiagnosis of Currarino syndrome as ovarian cyst.

The medical information was collected for Currarino syndrome. The patient had anal surgery for congenital anal stenosis when 2 years old. Clinical manifestations were pelvic cystic mass and low abdominal pain. The pelvic mass was found with a diameter of about 20 cm during the transabdominal exploration. At the second day after operation, the patient complained of neck pain. Neurosurgeon performed surgical treatment and diagnosed it as anterior sacral meningocoele. Currarino syndrome has female pelvic mass, sacral malformation, and congenital anorectal malformation, blindly puncture or drainage before operation should not be permitted.

Internal fat prolapse from ischiorectal fossa masquerading as currarino syndrome.

Pelvic magnetic resonance imaging (MRI) is the latest addition to already existing tools for evaluation of anorectal malformation (ARM). It provides detailed information about pelvic floor musculature as well as position of rectal pouch. However, lack of knowledge about normal pelvic floor anatomy can lead to misinterpretation of pelvic MRI which can create confusion and change in approach for surgery. A 14-month-old male child with diagnosis of ARM was evaluated with pelvic MRI. There was finding of abnormal protrusion of fat through the ischiorectal fossa which was misinterpreted as Currarino syndrome which created confusion immediately before posterior sagittal anorectoplasty. Pelvic MRI is highly informative while evaluating a case of ARM. However, a detailed knowledge of pelvic floor anatomy is mandatory to avoid wrong interpretation and misdiagnosis.

Currarino syndrome as an incidental radiologic finding in a patient with acute flank pain: A case report.

Currarino syndrome is an autosomal dominant hereditary disease defined as a triad of anorectal abnormality, sacral dysgenesis, and a presacral mass, primarily an anterior sacral meningocele. It is often seen in children and considered rare in adults. It is mostly found as an incidental finding. We present a 21-year-old man who presented with acute flank pain. He had a history of Hirschsprung's disease and therefore had undergone surgery in his infancy. He also had a history of prolonged constipation and had an episode of admission due to suspected obstruction. On physical examination, he had a severe costovertebral angle tenderness. urine exam revealed microscopic hematuria. Laboratory tests were otherwise unremarkable. Computed tomography scan revealed renal stones as well as a horseshoe kidney. Incidental findings included a large simple cystic structure in the presacral area suggestive of an anterior meningocele and sacral dysgenesis associated with scimitar sacral appearance. These findings suggested a diagnosis of Currarino syndrome. Urinary complications of this disease are reported in few articles. An important takeaway note for physicians is to have a high level of suspicion when encountering patients with gastrointestinal, neurologic, or urologic signs and symptoms and consider a thorough history taking and physical examination alongside proper imaging evaluation.

Complete Currarino Triad Presenting With Chronic Constipation.

Currarino syndrome (CS) is a congenital disorder that is characterized by the triad of anorectal malformation, sacrococcygeal anomalies, and a presacral mass. The inheritance of CS is autosomal dominant. Chronic constipation is the most common symptom of CS. MRI is considered the most sensitive test to diagnose CS. The report describes an eight-month-old baby girl who presented with chronic constipation. Physical examination showed abdominal distension and anal stenosis. Plain radiographs and MRI revealed sacrococcygeal abnormalities with a presacral mass. A patient was diagnosed with Currarino syndrome and managed surgically with excision of the presacral mass and an anorectoplasty via a posterior sagittal midline incision.

Primitive neuroectodermal tumor in a child with Currarino syndrome.

BACKGROUND: Curarino syndrome is a rare and complex anomaly with the triad of anorectal malformation, presacral mass and sacral bone deformation. The most common cause of the presacral mass is meningioma, but teratoma is the diagnosis in about one-third of the cases. Malignant transformation of teratoma in the form of carcinoma, rhabdomyosarcoma and leukemia have previously been reported on rare occasions. CASE: A 19 month-old-girl was referred with a presacral mass of 29mm x 23mm x 24mm. She was diagnosed as Currarino syndrome. The presacral mass was surgically resected and pathological examination revealed a foci of primitive neurectodermal tumor. CONCLUSIONS: This is the first case of Currarino syndrome with a primitive neuroectodermal tumor (PNET) foci in the presacral mass. Considering the risk of malignant transformation, the accurate pathological examination is important for complete systemic evaluation and treatment plan in these children.

Characterization of complete Currarino syndrome in pediatrics-a comparison between CT and MRI.

Background: This study sought to analyze the computed tomography (CT) and magnetic resonance imaging (MRI) characteristics of the classical triad elements and the associated anomalies in pediatric complete Currarino syndrome (CS) to evaluate the advantages and disadvantages of the 2 different imaging methods in displaying the abnormalities of this disease. Methods: The clinical and radiological features of 32 pediatric patients with complete CS diagnosed histologically and/or radiologically were retrospectively analyzed. Results: All 32 complete CS patients presented with the classical triad of congenital anorectal malformation (ARM), sacral agenesis, and presacral mass. Anal atresia, which is the most common congenital ARM, was observed in 19 of the 32 patients (59.4%). Sacral agenesis was mainly type IV (75%). Among the presacral masses, true tumors and pseudotumors accounted for about half each. All of the 15 true tumors were presacral teratomas. Twenty-five patients had associated anomalies, including tethered cord, filum lipoma, and hydronephrosis. Twenty-four patients underwent both CT and MRI examinations. While CT was better than MRI in displaying sacral anomaly (P<0.05), MRI was more sensitive than CT at detecting presacral mass, spinal dysraphism, and congenital anal atresia (P<0.05). Conclusions: CT and MRI have different efficiencies at displaying the abnormalities of the complete CS. As a non-invasive method, MRI has significant advantages in diagnosing complete CS, especially in revealing the details of ARM, presacral mass, and associated spinal dysraphism.

Currarino syndrome - a pre and post natal diagnosis correlation: case report and literature review.

Currarino syndrome is an uncommon genetic disease, with autosomal dominant inheritance, that is characterized by sacrococcygeal bone defect, presacral mass and anorectal malformation. There are many cases only diagnosed in adulthood, but early diagnosis is important to avoid life-threatening complications and to reduce morbidity, but it requires a high suspicion index and a multidisciplinary approach. If it is an unknown disease in the family, prenatal diagnosis is rare but possible. We discuss a case report of Currarino syndrome with an early diagnosis through fetal magnetic resonance imaging, studied during pregnancy for prenatal diagnosis purposes which showed similar defects in fetus spine and in the asymptomatic mother. We emphasize the inclusion of this rare syndrome in the differential diagnosis of fetal neural tube defects and caudal regression syndrome. The recognition of at-risk subjects should lead to better planning of pregnancies and appropriate management of affected children at birth.

Clinical Quiz-A Rare Case of Anal Canal Duplication in the Context of Currarino Syndrome.

Currarino syndrome (CS) is a rare condition that presents with any combination of a sacral defect, a presacral mass, and an anorectal malformation. This collection, referred to as Currarino's triad, may not necessarily present as all three abnormalities in the diagnosis of the syndrome. Anal canal duplication (ACD) is an even rarer occurrence. We present a case that lies on the CS spectrum with an associated ACD and discuss a complex surgical challenge that necessitated a customized management plan, devised through a multidisciplinary approach.

Postoperative complications and long-term outcomes in Currarino syndrome.

PURPOSE: This study aimed to present ten cases of Currarino syndrome, study their postoperative complications and prognosis, and analyze whether patient background and clinical factors influenced outcomes. METHODS: Ten patients with Currarino syndrome who were followed up at our institution between 2004 and 2020 were enrolled. Patient records were retrospectively reviewed for clinical details, postoperative complications, and long-term outcomes. RESULTS: The incidence of early postoperative complications was 80%, most of which were transient dysuria. The dysuria significantly developed in the higher normal sacral vertebra (p = 0.024) and the complete type of Currarino syndrome (p = 0.033). Later, intractable constipation requiring rectal irrigation and intractable dysuria requiring clean intermittent catheterization occurred in 40% and 30% of the patients, respectively. There was a tendency for tethered cord syndrome (p = 0.076), and the height of the normal sacral vertebra (p = 0.071) was related to intractable constipation. The height of the normal sacral vertebra (p = 0.05) and the tumor size on the image (p = 0.012) were significantly higher and larger, respectively, in the group with intractable dysuria than in the group without intractable dysuria. CONCLUSION: Postoperative complications, especially early ones, occur at a high rate. Long-term intractable constipation and dysuria may be influenced by the degree of sacral dysplasia.

The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.

BACKGROUND: Currarino syndrome (CS) is a rare genetic condition characterized by the association of three major clinical signs: anorectal malformation (ARM), sacro-coccygeal bone defects, and presacral mass. Different kinds of ARM can be present such as anteriorly placed anus, imperforate anus, anorectal stenosis, rectal duplication, and fistulae. The presacral mass can be a benign teratoma, a dermoid or neurenteric cyst, anterior meningocele or hamartoma. Females are more frequently affected and usually present with associated gynecologic and urinary tract problems. CS is considered an autosomal dominant trait, with reduced penetrance and variable expressivity. CS is associated with mutations in the MNX1 gene (motor neuron and pancreas homeobox-1, previously known as HLXB9) mapped to chromosome 7q36. Heterozygous loss-of-function mutations in the coding sequence of MNX1 gene have been reported in nearly all familial CS cases and in approximately 30% of CS sporadic patients. CASE: Here, we present the case of a woman with features of CS carrying a mosaic mutation in the coding region of MNX1 gene. This is the only reported case of a CS diagnosis in which the mutation is present in less than 50% of cells. CONCLUSION: The lower detection rate of MNX1 mutations in sporadic cases could similarly be explained by somatic mosaicism, mutations occurring outside the coding regions, or genetic heterogeneity.