Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example.

BACKGROUND: Children born with multiple congenital contractures have been almost always given the diagnosis of arthrogryposis multiplex congenita. Arthrogryposis is a descriptive term, not a specific disease entity. A heterogeneous group of conditions associated with multiple congenital joint contractures (mostly syndromic) should be considered. METHODS: The records of seven children (four boys and three girls with aged 6months- 11 years) of different ethnic origins have been included in this study. The constellation of specific craniofacial dysmorphic features, spine malformation complex, and appendicular skeletal abnormalities in addition to camptodactyly, talipes equinovarus and rocker- bottom feet were a cluster of malformation complex encountered in our patients. Via comprehensive clinical and imaging study (3D reconstruction CT scan), definite diagnosis of Escobar syndrome has been approached. RESULTS: The clinical and imaging phenotype was the key factor towards etiological understanding, treatment and genotype confirmation. We identified compound heterozygous mutations (c.459dupA [p.Val154Serfs*24] and c.794T>G [p.Leu265Serfs*24] of the CHRNG gene in four patients. Bilateral flexion contractures of the knees have been treated by using Iliazarov external fixator. Simultaneous corrections of scoliosis have been achieved by applying either dual traditional growing rods or single growing rods. CONCLUSIONS: The clinical and radiological phenotypic characterizations are the fundamental tool in differentiating Escobar from other forms of multiple contractures. The aim of this study are three folds, firstly to demonstrate the importance of detecting the etiological understanding in children presented with multiple contractures, secondly to refute the general conception among the vast majority of pediatricians and orthopedic surgeons that arthrogryposis multiplex is a diagnostic entity. And thirdly, we were able to detect severe spine deformity via 3D reconstruction CT scan, namely unsegmented posterior spinal bar.

Appendiceal duplication: a new case.

Duplication of the vermiform appendix is a rare malformation. Few than 100 cases have been reported worldwide. It is usually diagnosed incidentally during emergency appendectomies due to inflammatory processes in the cecal appendix. We report a case of a woman presented with clinical features typical of acute appendicitis and surgical exploration revealed a double appendix. The operating surgeon should be vigilant of these rare anomalies to avoid serious clinical and medico legal consequences.

The bone scintigraphy in the diagnosis and management in children with febrile osteoarticular pain.

BACKGROUND: Bone and joint infections are common diseases in pediatrics. They still are a public health problem in Tunisia. The diagnosis is based on clinical, biological, radiological and skeletal scintigraphy arguments. The purpose of this study is to determine the contribution of triple phase bone scan in the exploration of musculoskeletal pain febrile child. METHODS: This was a descriptive and retrospective study. It was conducted over a period of 5 years. It has interested all children explored in nuclear medicine department with suspected acute osteomyelitis (OMA) , osteoarthritis (OA) or septic arthritis (SA) referred from Orthopaedic Infantile service. All these patients had, alongside the conventional radiologic exams, a triple phase bone scan HMDP-Tc99m. RESULTS: We collected 62 patients. Among the selected diagnoses, there were: 22 OMA, 4 OA, 4 SA. The mean age of the patients was 5.58 years with a male predominance. The main reason for consultation was pain. Fever was ≥ 38° C in 80 % of cases. The preferential localization was the lower limb (93.5 %). The quantitative and qualitative bone scan abnormalities objectified led to a correct diagnosis of: 18 OMA, 3 OA and 2 SA with a respectively estimated sensitivity and specificity of 76.6% and 90.6% in the all population. CONCLUSIONS: Bone scan demonstrates early abnormalities allowing osteoaricular infection diagnosis. It highlights the infection site, and draws a map of the lesions. Currently, imaging modalities differ in their availability, their cost, their input and diagnostic accuracy but they are complementary.

Early drain site tumor recurrence post adjuvant chemotherapy for locally advanced colon carcinoma: Case report and literature review.

INTRODUCTION: Colon carcinoma is the most common type of gastro-intestinal cancer. Despite radical surgery, locoregional recurrence has been observed in 4-11.5 % of patients. Abdominal wall metastasis at the drainage site is an extremely rare finding and only a few cases are described in the literature. The mechanism of this metastasis is unknown, and its management remains unclear due to the rarity of the condition. CASE PRESENTATION: A 66-year-old patient underwent left colectomy for locally advanced colonic adenocarcinoma. Eight months after the end of adjuvant chemotherapy, the patient complained of a progressive mass of the left lumbar centered on the previous drain site scar. Abdominal wall recurrence was suspected. The patient had R0 mass excision. Histopathologic examination showed a parietal infiltration by a colloid adenocarcinoma. The patient underwent adjuvant chemotherapy. No recurrence was observed. DISCUSSION: Since 1999 only six cases of colon cancer drainage site metastasis have been reported. Metachronous solitary abdominal wall metastasis after radical colectomy may occur via cancer cell implantation, lymphatic or hematogenous route, or direct invasion. In case of drain site metastasis, the most likely hypothesis is the implantation of tumor cells into the abdominal wall through the drainage route performed during surgery. CONCLUSION: The appearance of abdominal wall mass after colon cancer resection must always be considered suspicious. To reduce the risk of abdominal wall metastasis we recommend minimizing tumor manipulation, resection the route of previous percutaneous drainage and performing a radical surgery. Metastasis resection combined with chemotherapy is the appropriate approach to treat these metastases.

An original preoperative orthopaedic management of a complex spinal deformity in a 16-year-old patient with spondyloepiphyseal dysplasia congenita.

PURPOSE: Spinal deformities in patients with Spondyloepiphyseal Dysplasia congenita are particularly challenging to treat. Addressing these deformities requires a holistic surgical strategy. The aim of this case report is to highlight an original preoperative protocol combining atlantoaxial instability stabilization by halo jacket with progressive correction of a thoracic kyphoscoliosis using continuous elongation by tension plaster cast as described by Stagnara. METHOD: A 16-year-old patient with spondyloepiphyseal dysplasia congenita presenting a severe thoracic kyphoscoliosis associated with atlantoaxial instability causing cervical myelopathy was managed through a preoperative protocol combining a halo jacket with a Stagnara elongation cast allowing progressive correction of the kyphoscoliosis while stabilizing the cervical instability. RESULTS: The preoperative protocol allowed a safer and a more effective surgical spine fusion, reducing neurological risks, improving the final correction, and offering better postoperative recovery. Clinical and radiological solid fusion was observed at 3-year-follow-up with significant improvement of the patient's quality of life. CONCLUSION: This case report highlights the effectiveness of the preoperative preparation combining a halo jacket with a Stagnara elongation cast to safely stabilize the cervical spine while correcting the thoracic kyphoscoliosis. This strategy can serve as a valuable tool for spine teams when addressing complex spinal deformities particularly in this patient with SEDc. LEVEL OF EVIDENCE: Level IV.

Contribution of specific anti-hydatid IgG subclasses in the diagnosis of echinococcosis primary infection and relapses.

BACKGROUND: Serological diagnosis of hydatid disease still faces problems of sensitivity, limiting its use to either diagnosis or post-surgical monitoring. The use of IgG subclasses seems to overcome these difficulties. The contribution of IgG subclasses was evaluated in the diagnosis of primary infested and hydatid cyst relapse patients. METHODS: A group of patients (n = 34) diagnosed for the first time with liver cystic echinococcosis (CE) and a group of patients with CE surgical recurrence were included. Enzyme-linked immunosorbent assay anti-hydatid antigens (HA) specific IgG1, 2, 3, and 4 subclasses were analyzed by ROC curves. RESULTS: ROC curve analyses demonstrated that IgG4 had the ability to discriminate between primary infested and relapsed groups whereas IgG2 was not discriminatory. The sensitivity of IgG4 was statistically higher in the relapsed cases group (97.1% versus 70.6%, p = 0.008). CONCLUSIONS: anti-HA specific IgG2 was the best marker of primary infestation whereas IgG4 was the best marker of relapse.

Safety of Laparoscopic Cholecystectomy for Cholecystitis during Pregnancy.

Objectives: The aim of this study is to evaluate the safety of laparoscopic cholecystectomy to treat acute cholecystitis during pregnancy. Materials and Methods: We conducted a retrospective multicenter study including pregnant women with acute cholecystitis managed in surgery departments in Tunisia from January 1, 2015, to December 31, 2019. Results: Seventeen centers of surgery department participated in this study including 107 cases of acute cholecystitis. The average maternal age was 30.5 years. Nonoperative management was performed in eight patients, whereas 99 other patients had surgery. Postoperative follow-up was uneventful in 93.8% of cases and eventful in 6.2% of cases. There was no mortality as far. A medical complication occurred in two patients with a medical morbidity rate of 1.7%. It was about thromboembolic disease. A surgical complication occurred in two other patients with a surgical morbidity rate of 1.7%. It was about intraperitoneal infection in one case and biliary collection in the other case. In univariate analysis, variables related significantly to maternal complication were: age equal or over 35 years old (P = 0.001), jaundice (P = 0.024), C-reactive protein value equal or over 20 mg/L (P = 0.05), and biliary peritonitis (P = 0.05). In multivariate analysis, independent variable predictive of maternal complications was age equal or over 35 years old (P = 0.003), jaundice (P = 0.003), and biliary peritonitis (P = 0.011). Conclusion: Laparoscopic cholecystectomy for cholecystitis can be safely achieved in pregnant women with low rates of morbidity and mortality. This study showed that independent variable predictive of maternal complications was age equal or over 35 years old, jaundice, and biliary peritonitis.

Reconstruction of isolated hypoplasia of the patella by a modified Galeazzi procedure: a case report.

BACKGROUND: Isolated Patellar Aplasia Hypoplasia is a very rare autosomal dominant disorder. Its treatment depends on the clinical manifestations that can vary widely. The lack of active extension, which can be responsible for frequent falls due to a knee instability, is the most frequent and disabling manifestation. We report an original technique that is a modification of the Galeazzi technique for recurrent dislocation of the patella to gain active extension in case of PTLAH. CASE REPORT: A 7-year-old Caucasian boy with isolated Patellar Aplasia Hypoplasia and an extension lag of the right knee has been treated by a modified Galeazzi technique. The tendons of the semi-tendinous and gracilis muscles have been harvested and their distal insertion was kept intact. Both tendons were fixed over the top of the patella to restore knee active extension. After 6 years of follow up the patient is symptom free with a strong active extension of the operated knee. CONCLUSION: Reconstruction of isolated hypoplasia of the patella by a modified Galeazzi procedure is a safe and reliable technique for skeletally immature patients offering satisfying long-term outcomes.

Growing rods for early-onset scoliosis in Ehlers-Danlos disease.

PURPOSE: To study the results and complications of Traditional Growing Rods (TGR) for the treatment of Early-Onset Scoliosis (EOS) in patients with Ehlers-Danlos syndrome (EDS). METHODS: This is a retrospective study of patients with EDS treated for EOS between 2012 and 2018 by TGR. For each patient, we evaluated the evolution of the Cobb angle of the main coronal curve before the first surgery, postoperatively and at the last follow-up. We also noted every complication. RESULTS: Four patients have been evaluated. Age at the index surgery ranged from 3- to 6-year-old. All the patients had a Kyphoscoliosis. The preoperative Cobb angle of the main coronal curve ranged from 70° to 104°. Prior to surgery, a progressive correction of the spinal deformity by Halo-gravity traction was performed for all patients. One patient had several complications with a poor result after final fusion. Three patients did not sustain any complication and presented good results. Follow-up ranged from 3 to 8 years. For two of our patients, further lengthening procedures are still needed. CONCLUSIONS: TGR is a good surgical option for the treatment of EOS in EDS. A progressive preoperative correction is recommended. Anchor-related complications must be minimized in these patients with an important kyphosis. Level of evidence Level IV.

Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.

Background: Spondylocostal dysostosis is a rare genetic disorder caused by mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2. A particular form of this disorder characterized by the association of spondylocostal dysostosis with multiple pterygia has been reported and called spondylospinal thoracic dysostosis. Both disorders affect the spine and ribs, leading to abnormal development of the spine. Spondylospinal thoracic dysostosis is a rare syndrome characterized by the association of multiple vertebral segmentation defects, thoracic cage deformity, and multiple pterygia. This syndrome can be considered a different form of the described spondylocostal dysostosis. However, no genetic testing has been conducted for this rare disorder so far. Methods: We report here the case of an 18-month-old female patient presenting the clinical and radiological features of spondylospinal thoracic dysostosis. To determine the underlying genetic etiology, whole exome sequencing (WES) and Sanger sequencing were performed. Results: Using WES, we identified a variant in the TPM2 gene c. 628C>T, already reported in the non-lethal form of multiple pterygium syndrome. In addition, following the analysis of WES data, using bioinformatic tools, for oligogenic diseases, we identified candidate modifier genes, CAP2 and ADCY6, that could impact the clinical manifestations. Conclusion: We showed a potential association between TPM2 and the uncommon spondylocostal dysostosis phenotype that would require further validation on larger cohort.

Posterior cruciate ligament avulsion associated with an epiphyseal fracture of the proximal fibula: a case report of a 13-year-old child.

Posterior cruciate ligament (PCL) avulsion fractures are rare among the pediatric population. Reported PCL injury incidence varies from 1 to 40% depending on the study population. PCL lesions can be isolated or associated with other ligamentous lesions, which makes their management challenging. Knee ligament reconstruction is essential to restore knee stability and, thus, prevent future menisci and cartilage degeneration. However, surgical management of these injuries can lead to subsequent iatrogenic growth disturbances. Case presentation: The authors describe the case of a 13-year-old child involved in a sports accident causing a PCL avulsion fracture associated with an epiphyseal fracture of the proximal fibula resulting from an incomplete peel-off injury of the lateral collateral ligament. The patient was scheduled for open reduction and internal fixation on the same day of the presentation. A long-leg cast was then applied for 6 weeks. By 3 months postoperatively, the patient regained full range of motion, and return to sport was possible 6 months after the surgery. Conclusion: In children and adolescents, PCL avulsion fractures are often associated with other occult lesions. Although good functional and clinical outcomes using operative management for these lesions are reported, specific treatment recommendations are lacking in skeletally immature patients.

[Epidemiology of acute hematogenous osteomyelitis in children: a prospective study over a 32 months period]. / Epidémiologie des ostéomyélites aiguës hématogènes communautaires de l'enfant : Etude prospective sur 32 mois.

AIM: To determine the demographic, clinical, biological and bacteriological profile of acute community acquired hematogenous osteomyelitis (AHO) in children. METHODS: Prospective study including children admitted for AHO. We noted the demographic parameters of patients and the clinical, biological and radiological characteristics of the infection. Blood cultures and local specimen in operated children were systematically performed. RESULTS: 70 patients were included. The mean age was 7.7 years. The mean time between onset of symptoms and admission was 3.2 days. Distal tibia was the most frequent localization (18.66%). Fever higher than 38° on admission was found in 92.8% of patients. Creactive protein (CRP) was superior to 20 mg / L in 95.8% and ESR superior to 20 mm in the first hour in 92% of cases. A deep venous thrombosis was found in 7 patients and a pleuropulmonary Staphylococcus infection in 4 patients. A micro organism was isolated in 64.7% of cases. Staphylococcus aureus methicillin susceptible (SAMS) was the predominant germ. Staphylococcus aureus methicillin resistant (SAMR) accounted for 15.7% of staphylococcus aureus infections. The importance of CRP on admission and time to resolution of fever after the start of treatment were significantly higher in SAMR infections. The existence of deep venous thrombosis and a pleuropulmonary Staphylococcus infection and the need for surgical drainage were significantly more frequent in SAMR infections. CONCLUSION: The existence of a severe form of AHO should lead to a high suspicion of SAMR infection and prompt the prescription of an appropriate antibiotiotherapy.

Fournier's Gangrene: validation of the severity index.

INTRODUCTION: Fournier's gangrene is a serious infection and is considered a major emergency. A complete assessment of the severity factors using a severity score is essential and makes it possible to adapt the therapeutic management. AIM: Validate Fournier's Gangrene Severity Index and evaluate its benefits in the initial assessment of disease severity. METHODS: This is a retrospective, monocentric study which gathered all the cases of perineal gangrene that were managed in General Surgery Department of Habib Bougatfa Hospital in Bizerte over a period of 8 years. The primary endpoint in our study was mortality. RESULTS: Thirty-five cases of Fournier's gangrene were collected. The average age of our patients was 46 years. Mortality rate was 23%. We calculated the Fournier's Gangrene Severity Index for 22 patients. There was a significant difference in the average Fournier's Gangrene Severity Index score between the group of surviving patients (3.75) and the group of deceased patients (12.63) (p 9.5 (sensitivity 87.5%, specificity 100%), we noted that the mortality rate was significantly higher in the group with a score> 10 (100%) than in the group with a score ≤ 9 (6%) (p.

Right Colon Clear Cell Carcinoma of Müllerian Type.

Clear cell carcinoma (CCC) is usually seen in tissues originating from the paramesonephric (Müllerian) ducts such as the kidneys, the ovaries, the cervix and the vagina. The pathogenesis has not yet been elucidated. The diagnostic hallmark is the clear cytoplasm. Primitive CCC of the colon is a very rare entity. There are two types of CCC of the colon; the intestinal type and the Müllerien type. The differential diagnosis arises mainly with secondary metastases of renal or ovarian origin. Immunohistochemistry allows retaining the primitive character. The treatment is not yet consensual. It depends on the type of tumor and its stage. The treatment is based on surgery and possibly chemotherapy. We report the case of a 75-year-old female patient who underwent surgery for a tumor of the ascending colon. Microscopic examination concluded an extensively necrotic carcinomatous growth which infiltrated all the layers of the intestinal wall and the peritoneum. The tumor was made of clusters and spans of clear cells which were separated by thin conjunctivo-vascular septa. The tumor cells were round to polygonal with a clear, optically empty, pseudo-vegetative (physaliferous) cytoplasm. Immunohistochemistry study showed a positive staining with CK7 and a negative staining with CK20, CDX2, PAX8, P63, CD10, chromogranin, and synaptophysin. We performed a Medical Literature databases (Pubmed and Google Scholar) research. Only forty-two cases were reported in English literature. The main age is 55.7 (25-89). The sex ratio is one, but female cases were younger (52 vs. 61). The rectum is the most involved site. The left colon location is more frequent than the right one. The Müllerian type was found only at the level of the left colon and rectum. There was no CCC in the right colon of Müllerien type. The case we report herein is the first right colon CCC which is positive in CK7 staining.

Gayet-Wernicke's encephalopathy complicating prolonged parenteral nutrition in patient treated for colonic cancer - a case report.

BACKGROUND: Gayet-Wernicke's encephalopathy (GWE) is a neurological pathology caused by a Thiamine deficiency. While it is most often related to chronic alcoholism, GWE can occur in any situation that results in thiamine deficiency. It is a fairly common pathology that is frequently underdiagnosed and therefore under-treated, and is associated with a high mortality and morbidity rate. In the absence of pathognomonic signs, the diagnosis of GWE relies on a range of clinical, biological and radiological assessments. GWE is considered a medical emergency. We present a case of Gayet-Wernicke's Encephalopathy resulting from complete parenteral nutrition in an undernourished North African male operated for a left colon tumor. Through this report, our aim was to put the light on this often underknown disease and to remind the interest of thinking about this pathology in patients at risk of undernourishment especially in oncology. CASE PRESENTATION: A 66-year-old North African male with no personal or family history was operated for a sigmoid colon tumor. He was put on exclusive parenteral nutrition on day thirteen post-operatively and presented with a GWE on day sixteen post-operatively. The patient was treated with intravenous vitamin B1 on day eighteen post-operatively and deceased on day twenty-four post-operatively. CONCLUSIONS: Although most often associated with chronic alcoholism, GWE occurs in any situation where there is an increased energy demand or decreased nutritional intake especially in oncology. GWE is common but under-diagnosed and remains lethal if not treated urgently, hence the importance of prophylactic treatment.

Torticollis in Connection with Spine Phenotype.

PURPOSE: Torticollis is not of uncommon occurrence in orthopaedic departments. Various theories and studies concerning the pathogenesis of the deformity have been suggested. We aimed to highlight and discuss the underlying cervical and spine malformation complex in correlation with torticollis via radiographic and tomographic analysis and its connection with a specific syndromic entity. METHODS: Torticollis has been recognised in six patients (2 boys and 4 girls with an age range of 14-18 years), in addition to a couple of parents manifested persistent backpain. A variable spine malformation complex was the main reason behind torticollis. In addition, some patients manifested plagiocephaly, facial asymmetry and scoliosis/kyphoscoliosis. In some patients, conventional radiographs were of limited value because of the overlapping anatomical structures. Three-dimensional reconstruction CT scanning was the modality of choice, which enlightens the path for the phenotypic characterisation. RESULTS: A 16-year-old-boy presented with torticollis in correlation with pathologic aberration of the spine cartilaginous stage was analysed via 3DCT scan. Comprehensive clinical and radiological phenotypes were in favour of spondylomegepiphyseal dysplasia. The genotype showed a mutation of the NKX3-2 (BAPX1) gene compatible with the diagnosis of spondylo-meg-epiphyseal-metaphyseal dysplasia. His younger male sibling and parents were heterozygous carriers. In two patients with pseudoachondroplasia syndrome, in which odontoid hypoplasia associated with cervical spine synchondrosis causing life-threatening torticollis, Cartilage oligomeric matrix protein (COMP) gene mutation was identified. MURCS syndrome has been diagnosed in two unrelated girls. Torticollis associated with cervical kyphosis was the major presentation since early childhood. Interestingly, one girl showed omovertebral bones of the lower cervical and upper thoracic spine. Her karyotype manifested a balanced translocation of 46 XX, t (14q; 15q). CONCLUSION: To detect the underlying etiological diagnosis of torticollis, a skeletal survey was the primary diagnostic tool. Conventional radiographs of the craniocervical junction and spine resulted in confusing readings because of the overlapping anatomical structures. Cranio-cervical malformation complex could have serious neurological deficits, especially for children with indefinite diagnosis of torticollis. The widely used term of congenital muscular torticollis resulted in morbid or mortal consequences. Moreover, some patients received vigorous physical therapy on the bases of muscular torticollis. Sadly speaking, this resulted in grave complications. Understanding the imaging phenotype and the genotype in such patients is the baseline tool for precise and proper management. The value of this paper is to sensitise physicians and orthopaedic surgeons to the necessity of comprehensive clinical and radiological phenotypic characterisations in patients with long term skeletal pathology.

Case Report: Caecal volvulus management from diagnosis to treatment in a young patient.

Caecal volvulus (CV) is a rare cause of intestinal obstruction, defined by an axial torsion of the caecum, ascending colon, and terminal ileum around the mesenteric vascular pedicles, leading to ischemia and bowel necrosis. A 20-year-old woman, with no significant medical history, was admitted for generalized abdominal pain evolving for three days, along with constipation and abdominal distension, but with no vomiting. Physical examination showed a generalized abdominal tenderness with no rigidity or rebound tenderness, associated with abdominal distension and tympanic upon percussion. Laboratory findings were within normal limits. An abdominal computed tomography scan revealed distension of a loop of the large bowel with its long axis extending from the right lower quadrant to the epigastrium or left upper quadrant. Colonic haustral pattern was absent. An abdominal computed tomography scan showed a rounded focal collection of air-distended bowel with haustral creases in the upper left quadrant. In addition, spiraled loops of the collapsed cecum (giving a whirl sign) were noted, along with low-attenuating fatty mesentery from the twisted bowel. The patient underwent an emergency laparotomy and caecectomy using GEA 80 charges. The patient had no complaints post-operation. CV is a rare cause of bowel obstruction, mainly caused by an exceedingly mobile caecum. Despite its rareness, CV represents the second most common cause of large bowel volvulus, behind sigmoid volvulus. For acute obstruction by CV, it is hard to differentiate it clinically from obstruction of the small bowel; therefore, radiological exams are needed. Surgery is the gold standard treatment for CV. We report a rare case of CV to highlight the rarity of this pathology, specify its diagnostic and therapeutic means, and its clinical and biological evolution.

Calcaneal lengthening osteotomy in the management of idiopathic flatfoot in children: cCase series of twenty-one feet.

INTRODUCTION: Flatfoot is a frequent reason for consultation in pediatric orthopedics. The calcaneal lengthening osteotomy according to the EVANS technique is a therapeutic alternative. The objective of this work was to evaluate the short and medium term clinical and radiological results of calcaneal lengthening osteotomy in children with idiopathic flat foot valgus. METHODS: This study concerned 12 children and 15 ft treated surgically by calcaneal lengthening osteotomy by an orthopedic surgeon in a pediatric orthopedic surgery center. The evaluation of the results was clinical according AOFAS score and radiological. RESULTS: The deformity was reducible in all of our patients. The mean preoperative AOFAS score was 61, postoperatively 90. The overall result was excellent in 11 cases (11 ft) and good in 4 cases. The postoperative radiological result was close to normal values. CONCLUSION: Calcaneal lengthening osteotomy is a reliable and recommended technique for the correction of symptomatic idiopathic flatfoot. LEVEL OF EVIDENCE: IV, Case series.

Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.

Escobar syndrome is a rare, autosomal recessive disorder that affects the musculoskeletal system and the skin. Mutations in the CHRNG and TPM2 genes are associated with this pathology. In this study, we conducted a clinical and genetic investigation of five patients and also explored via in silico and gene expression analysis their phenotypic variability. In detail, we identified a patient with a novel composite heterozygous variant of the CHRNG gene and two recurrent mutations in both CHRNG and TPM2 in the rest of the patients. As for the clinical particularities, we reported a list of modifier genes in a patient suffering from myopathy. Moreover, we identified decreased expression of IGF-1, which could be related to the short stature of Escobar patients, and increased expression of POLG1 specific to patients with TPM2 mutation. Through this study, we identified the genetic spectrum of Escobar syndrome in the Tunisian population, which will allow setting up genetic counseling and prenatal diagnosis for families at risk. In addition, we highlighted relevant biomarkers that could differentiate between patients with different genetic defects.

Ankle sprain injury in child and adolescent: Diagnostic pitfalls.

Introduction and importance: Sprained ankles in children and adolescents are rare. Certain diagnostic pitfalls must arise in the mind of the clinician because many differential diagnoses must be confirmed or refuted urgently. Among them, the infectious osteoarticular pathology including acute hematogenous osteomyelitis of the tibia or distal fibula and septic arthritis of the subtalar joint.The main purpose of this work, through four clinical cases, we will discuss diagnostic pitfalls in the course of ankle trauma in children and adolescents. Case presentation clinical: In this work, we have demonstrated through four cases some diagnostic errors in the context of ankle trauma in children and adolescents. Infectious and malignant tumor pathologies are real diagnostic and therapeutic emergencies. For all these cases, the initial diagnosis was a sprained ankle following a gambling or sports accident. Discussion: Ankle trauma in children and adolescents is a frequent reason for consultation in emergencies. The fear of the orthopedic surgeon is to miss a serious pathology and wrongly make the simple diagnosis of a sprained ankle. Temperature measurement must be systematic. The clinical examination must be meticulous. The interpretation of the radiograph must be cautious. Acute hematogenous osteomyelitis and malignant tumor pathology should be on the surgeon's mind. Conclusion: We have shown through these four examples that a serious pathology can simulate a sprain. Hence, a careful analysis of clinical, biological and radiological elements is the only guarantee of adequate care.