Neonatal upper limb fractures - a narrative overview of the literature.

The aim of this paper is to review the topic of neonatal fractures of the upper limb, describing the different types of fractures focusing on the etiology, epidemiology, risk factors, clinical approach, diagnosis, treatment and prognosis of these injuries. We included all types of research studies, both experimental and observational, published in English, French, Portuguese and Spanish. The information was obtained using the keywords neonatal upper limb fracture, clavicle fracture or humerus fracture from the following resources: MEDLINE database, Embase® database and LILACS database. Other resources such as hand searches of the references of retrieved literature and authoritative texts, personal and hospital libraries searching for texts on upper limb neonatal fractures, discussions with experts in the field of upper limb neonatal fractures and personal experience, were also considered for the completion of the article.Neonatal fractures of the upper limb are consensually considered to have a good prognosis and no long-term sequelae. Conservative treatment is the option in the vast majority of the fractures and is associated with excellent results, with good healing, full range of motion, adequate remodeling without obvious deformity, neurologic impairment or functional implications.

Applications of propolis encapsulation in food products.

Propolis has beneficial health properties attributed to of phenolic compounds. However, its application is limited. Thus, encapsulation protects the bioactive compounds of propolis from degradation, allowing their release under controlled and specific conditions and increasing their solubility. In addition to protecting flavonoids, encapsulation also minimises the undesirable characteristics of propolis, such as strong odour. We brought attention to the high antioxidant and antimicrobial activities of encapsulated propolis, and its maintained biological activity enables more uses in different areas. Encapsulated propolis can be applied in food products as an ingredient. This review describes recent advances in improving the bioactivity of propolis extracts by using encapsulation techniques, and biopolymer research strategies, focusing on applications in food products. Encapsulated propolis has a promising market perspective due to the industrial and scientific-technological advancement, the increase in the amount of research, the improvement of propolis extraction techniques, and the need of consumers for innovative products.

Percutaneous screw fixation promotes healing of lateral condyle nonunion in children.

BACKGROUND: This retrospective study examined whether pediatric lateral condyle nonunions could be successfully managed by percutaneous screw fixation. We report the outcome of this minimally invasive technique avoiding open reduction and bone grafting associated with the risk of avascular necrosis (AVN), infection, and stiffness. METHODS: The hospital radiology database was searched between 1998 and 2008. This identified 16 consecutive patients aged 2 to 10 years, with lateral condyle nonunions treated with percutaneous screw fixation. We assessed clinical and radiographic outcomes from presentation to final follow-up. Potential risk factors for recalcitrant nonunion were identified. Categorical variables are presented as proportions and percentages. Continuous variables were assessed for normality with the d'Agostino-Pearson test. Normally distributed variables are presented as means with 1 SD. Non-normally distributed data are presented as medians with interquartile range. RESULTS: Outcome was defined as successful if radiologic and clinical union was achieved. Twelve patients (75%) united after surgery, at a mean of 16.2 weeks (±6.74). Four (25%) failed to unite. The failures presented with nonunion later (median of 225.5 wk from initial injury). This was significantly different (P=0.039) from presentation in the successful group (median time 15.7 wk).Median age at injury was 5.1 years (range, 3.2 to 7.2) in the successful and 2.8 years (range, 2.1 to 4.7) in the unsuccessful group (P=0.18). Overall, mean time from nonunion diagnosis to percutaneous surgery was 5.2 weeks (±4.11). Forty-four percent had implant removal once union was achieved and no cases of AVN were reported. CONCLUSIONS: We demonstrate this technique to be successful in nonunions addressed within 16 weeks from initial injury to diagnosis. Our 4 failures occurred in nonunions diagnosed >31 weeks from the injury (31, 68, 383, 427 wk). All had been managed nonoperatively as their primary treatment plan.Percutaneous fixation is feasible and safe. Patients not achieving union were diagnosed after a greater delay. There was a trend toward successfully treated patients being younger. There were no cases of AVN, infection, or elbow stiffness. LEVEL OF EVIDENCE: Level 4.

Trigger Thumb, Trigger Finger and Clasped Thumb.

Finger deformities are a common reason for medical observation in children. Subtle clinical differences can have a significant impact on the diagnosis and treatment of these patients. Identification of the basic diagnostic and treatment principles of trigger thumb, trigger finger, and clasped thumb is of paramount importance to all general practitioners, pediatricians, and orthopedic surgeons who are involved in the care of children. The purpose of this article is to review the most important concepts regarding these important topics, focusing on etiology, epidemiology, clinical presentation, diagnosis, treatment and prognosis.

Ray resection in pediatric population after trauma injuries.

The aim of this study is to assess the functional, emotional, and social adaptation of pediatric patients submitted to a hand ray resection to treat a traumatic hand injury. Retrospective study of pediatric patients undergoing hand ray resection, in the period 2013-2022, performed in two hospital institutions. Inclusion criteria: age less than 18 years, primary/secondary resection due to traumatic etiology and follow-up time of more than 1 year. Data concerning demographic information, lesion location, traumatic mechanism and surgical description were collected. Functional outcomes (QuickDASH Score), social and emotional integration (PEDSQL) and satisfaction were evaluated. Seven patients were included, with male predominance (n = 4) and the right side was the most affected (n = 5). Median age at the time of surgery was 10 years (2-15). Primary ray resection, without previous revascularization, was performed in three patients. Secondary ray resection was performed in four patients. Three patients with an unsuccessful revascularization procedure attempt another patient with a sequela with severe deformity. All patients presented a good adaptation to daily living activities, with good pinch and grip function. The median follow-up was 4 years (min:1; max:9). The scores were collected on six out of seven patients. Median QuickDASH score of 14 (min:11; max:22), and PEDSQL[physical] of 95.31 (min:78.13; max:100) and PEDSQL[social] of 93.47 (min:66.3; max:100). Hand ray resection is a rare procedure in pediatric age and usually difficult for patients and parents to accept. However, it is a useful and safe technique that allows for an improvement in overall hand function and psychosocial readaptation in specific and selected cases. Level of evidence: Level of evidence IV - case series.

Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population.

Vitamin D-dependent type 1A rickets (VDDR-1A) is a rare autosomal recessive disease due to the inability to convert 25-hydroxyvitamin D [25(OH)D] to the active form 1.25-dihydroxyvitamin D [1.25(OH) 2 D] by the enzyme 25(OH)D-1α-hydroxylase leading to low or low-normal serum levels of [1.25(OH) 2 D]. We report two sisters with rickets in whom the diagnosis of VDDR-1A was a challenge. They had normal 1.25(OH)2D levels, which are unusual with this condition but may be explained by the identified genotype. Both have compound heterozygous for two, most likely, hypomorphic CYP27B1 alleles: the novel p.(Arg117Gly) variant, and p.(Ala129Thr), which are present in 0.43% of the African population. This report illustrates the variability of clinical, laboratory, and radiological presentation between two sisters with the same genotype, during phases of faster or slower growth. Genetic testing was crucial for establishing the diagnosis that optimized the management and genetic counseling.

Encapsulation of propolis extract in ovalbumin protein particles: characterization and in vitro digestion.

The encapsulation of propolis has shown promising results for the protection of bioactive compounds, local and gradual release and masking the astringent taste. Ovoalbumin is a protein of animal origin found in large amounts in egg whites, which has good properties as a wall material for particles.The objective of this study was to microencapsulate propolis by spray drying. The best condition for microencapsulation was achieved with 4% ovalbumin at 120 °C, where there was the greatest encapsulation efficiency (88.20%) and spherical shape. However, the increase of ovalbumin concentration resulted lower yields (< 52%). As for the scanning electron microscopy (SEM), the increase of ovalbumin concentration caused an increase of the size with average diameter and formation of spherical microcapsules. The phenolic compounds were already released in the gastric fluid condition (stomach).

Antimicrobial activity of geranium (Pelargonium graveolens) essential oil and its encapsulation in carioca bean starch ultrafine fibers by electrospinning.

Geranium (Pelargonium graveolens) is known for being an aromatic plant rich in bioactive compounds with antibacterial properties. In this study, geranium essential oil (GEO) was extracted and encapsulated in ultrafine bean starch fibers produced by electrospinning as an antibacterial agent. GEO revealed a composition rich in volatile compounds, including citronellol, cis-geraniol, ß-linalool, citronellyl formate, and linalool formate. In its free form, GEO exhibited high antibacterial activity against pathogenic bacteria strains (L. monocytogenes, S. aureus, and E. coli). The bean starch fibers, produced with and without the addition of GEO, were uniform and continuous, with an average diameter ranging from 249 to 373 nm. Confocal analysis indicated a uniform distribution of GEO in the fibers, with a loading capacity of 54.0 %, 42.9 %, and 36.5 % for 20 %, 30 %, and 40 % GEO concentrations, respectively. Remarkably, fibers containing 40 % GEO showed a significant reduction in tested bacteria (L. monocytogenes, S. aureus, and E. coli), suggesting promising applications in preventing losses and extending the shelf life of food through active packaging.

Thumb Duplication Surgical Treatment: Outcomes and Results.

Aim: This study aims to evaluate functional and esthetic outcomes of thumb duplication correction in pediatric age. Methods: Retrospective study including all pediatric patients with thumb duplication undergoing surgical treatment between 2012 and 2017. We analyzed demographic data, surgical technique, and surgical outcomes considering Tada, Horii, and Tien scores, according to the following parameters: active mobility of the metacarpophalangeal and interphalangeal joints, stability, alignment, and family's opinion about cosmetic and function of the thumb. The Wassel-Flatt classification was used to classify the duplicated thumbs. Results: A total of 11 patients were included, predominantly male (ratio 1.8:1), with a median age at time of surgery of 19[10-26] months and a median follow-up time after surgery of 23 [3-63] months. The Wassel- Flatt type IV thumb was the most frequent (73%). The postoperative evaluation revealed that 82% of patients had good results in Tada score, 73% had good results in Horii score, and all patients showed good results in Tien score. We found a relation between lower age and fair postoperative alignment (P = .047) and between fair postoperative alignment and fair final Tada (P = .022), Horii (P = .006), and Tien (P = .009) scores. Conclusions: Excision and reconstruction procedures are good options in the treatment of thumb duplication providing good clinical results, with excellent parent satisfaction. Timing of surgery is important for favorable esthetic outcomes, while angular deformity is a determining factor that for postoperative dissatisfaction.

Predictors of cognitive dysfunction in hereditary transthyretin amyloidosis with liver transplant.

BACKGROUND: Cognitive dysfunction is part of the broad spectrum of clinical manifestations in older untreated hereditary transthyretin amyloidosis patients with peripheral polyneuropathy. OBJECTIVE: The objective of this study is to systematically explore cognitive dysfunction in ATTRV30M amyloidosis patients whose disease course was modified by liver transplant (LT). METHODS: A series of 269 carriers of TTRVal30Met mutation treated with LT underwent a neuropsychological assessment. Clinical charts were reviewed to identify focal neurological episodes (FNEs), cognitive complaints and laboratory results. Chi-square and Mann-Whitney tests explored potential predictors of cognitive dysfunction. RESULTS: Cognitive dysfunction was identified in 35 patients (13%)-14 (5%) had mild and 21 (8%) had moderate dysfunction. In comparison to normal cognition, both mild and moderate cognitive dysfunction patients had older age, higher mPND score and elevated NT-proBNP and Cystatin C values. Mild cognitive dysfunction was associated with longer disease duration and history of FNEs, whereas moderate dysfunction was related to older age at disease onset and more cognitive complaints and depression symptoms. CONCLUSIONS: Consistent with the natural history of the disease, older age and higher severity of the disease are significantly associated and potentially predictors of cognitive dysfunction in ATTRV30M patients treated with LT. The level of cognitive dysfunction may depend on some clinical variables.

Flexor Tendon Injuries in the Pediatric Population.

Flexor tendon injuries are rare in children, posing specific diagnostic and therapeutic challenges. This study aims to describe epidemiologic characteristics of flexor tendon injuries in children and evaluate the outcomes of surgical treatment. We conducted a retrospective study of patients with acute traumatic flexor tendon injuries treated between 2012 and 2019. We analyzed demographics, lesion mechanism, surgical technique, clinical results, complications, and secondary surgical procedures. Functional results were assessed through the Total Active Mobilization score. Twenty patients were included (n=34 tendons), with median follow-up of 7 months (range, 3-34 months) and median age at time of surgery of 13 years (range, 1-17 years). Male sex was predominant (n=16). The most prevalent injury mechanism was a cut (n=17), mostly affecting the 4th digit (n=10) and Verdan's zone II (n=13). Modified Kessler was the suture technique most commonly used (n=31), and polypropylene was the preferred suture material (n=19). All patients were immobilized with a splint for a median time of 4 weeks (range, 1-7 weeks). According to the Total Active Mobilization score, 15 patients reached a score greater than 75%, independently of age (P>.05). Stiffness was the main complication observed. Complications were identified in 37% of patients and were most common in those older than age 10 years (P>.05) and those with zone II lesions (P>.05). Four patients (20%) needed a second surgical intervention. Flexor tendon injuries in children are relatively uncommon and prevail in the male sex, similarly to the adult population. The principal complication observed was stiffness, which was more prevalent in children older than age 10 years, although without relevant functional implications, as surgical treatment enabled good or excellent outcomes in 75% of patients. [Orthopedics. 2023;46(2):82-85.].

Hyperthyroidism in McCune-Albright Syndrome - a case report.

OBJECTIVES: We intend to describe a case of McCune-Albright Syndrome (MAS), a rare disease characterized by fibrous dysplasia (FD), cutaneous hyperpigmentation and hyperfunctioning endocrinopathies (HFE). CASE PRESENTATION: We report the case of a 13-year-old male child who presented with a café-au-lait macule in the lumbosacral region and disabling polyostotic FD, requiring several surgical interventions and bisphosphonates from the age of 3 years (Y) + 9 months (M) due to persistent and severe pain. Hyperthyroidism (HT) became apparent at 5 Y + 1 M with a T3/T4 ratio greater than 20. Treatment with anti-thyroid drugs (ATD) was carried out for 7 Y and there was a progressive improvement in pain complaints 8 M after starting ATD, allowing treatment with pamidronate to be discontinued. Total thyroidectomy was performed at 12 Y + 5 M. CONCLUSIONS: This is a case of MAS-associated HT that reflects the deleterious effect of thyroid hormone excess on FD, reinforcing the need of having a low threshold for suspicion of HFE that may arise.

Rosaceae rubus rosifolius smith: nutritional, bioactive and antioxidant potential of unconventional fruit.

Rubus is an economically important fruit, highly valued for its taste and medicinal properties. Itis estimated that there are between 400 and 700 species, but many of them are still unknown to the general population. There is a little information in the literature about the physicochemical and bioactive composition, as well as the antioxidant activity of these fruit, which is why this research was carried out. The fruits showed lipids (7.42%), ash (0.27%), dietary protein (11.54%), fiber (23.72%), carbohydrates (59.18%), low acidity, and good °Brix. Regarding bioactive compounds, good concentrations of phenolic compounds (289.4 (mg. g-1 EAG), flavonoids (155 mg100g-1), anthocyanins (120.11 mg cyanidin-3-glucoside 100 g-1), and phytoene (517.3 mg100g-1) were found. The wild strawberry showed a good antioxidant capacity, which was confirmed by different analytical methods. Because of the results of this research, it is concluded that this fruit has nutritional and phytochemical potential that should be included in the human diet, and its consumption should therefore be encouraged.

Madelung Deformity - Esthetic and Functional Outcomes from the Surgical Treatment with Distal Radial Dome Osteotomy and Vickers Ligament Section.

Objective The present study aimed to evaluate esthetic and functional outcomes from the surgical treatment of Madelung deformity in children. Method This is a retrospective study of pediatric patients with Madelung deformity who were surgically treated with dome osteotomy of the distal radius and Vickers ligament section from 2015 to 2018. Patients with a minimum postoperative follow-up period of 12 months were included. Demographic data, surgical technique, clinical and radiographic outcomes were analyzed. Pre and postoperative radiographic evaluation consisted of ulnar tilt, lunate subsidence lunate fossa angle, and palmar carpal displacement measurements. The postoperative clinical evaluation consisted of ranges of motion of the wrist, visual analog scale (VAS) and Disabilities of the Arm, Shoulder and Hand (DASH) score. Results Four patients were included, two with idiopathic Madelung deformity and two with bone dysplasia. All patients were females and presented bilateral disease. Six wrists were operated on. The median age at surgery was 15.5 years old, and the median postoperative follow-up time was of 37.5 months. The postoperative radiographic analysis revealed an average correction of 8.8 ± 7.5° for ulnar tilt, 3.0 ± 3.9 mm for lunate subsidence 8.2 ± 6.6° for lunate fossa angle, and 4.7 ± 2.6 mm for palmar carpal displacement. Average postoperative ranges of motion of the wrist joint were 75.8 ± 3.4° for flexion, 62.5 ± 14.1° for extension, 25.7 ± 2.9° for radial deviation, 40.0 ± 2.9° for ulnar deviation, 88.3 ± 2.4° for pronation, and 82.5 ± 2.5° for supination. The median VAS was 1 for residual pain, 0 for functional deficit, 0 for esthetic impairment, and 10 for recommending the surgical procedure. The median DASH score was 0. Conclusion Madelung deformity treatment using dome osteotomy of the distal radius and Vickers ligament section results in excellent esthetic and functional outcomes.

Tibial tubercle avulsion fractures in adolescents: impact on function and quality of life.

The objective of the study was to assess functional outcomes and quality of life of patients treated for tibial tubercle avulsion fractures (TTAFs). Retrospective study of patients under 18 years of age treated from June 2011 to May 2018. Demographic data included age, gender, mechanism of injury, side, fracture classification, associated injuries, predisposing factors, and type of treatment. Clinical results included knee range of motion, pain, return to sports, overall satisfaction, functional outcomes, and complications. At final follow-up, Tegner Lysholm Knee Scoring Scale, and Kidscreen-10 were applied. Ten patients were included, all males, with a median age of 15 years. Mechanism of injury: football (three patients), basketball (two patients), running (two patients), handball (one patient), gymnastics (one patient), and fall (one patient). Nine were treated surgically with reduction and fixation with cannulated screws or Kirschner wires, plus treatment of associated injuries (three patellar tendon avulsions, one contralateral proximal tibia epiphyseal fracture, and two prophylactic fasciotomies). One patient developed mild recurvatum and two presented minor decreased knee flexion. Eight patients returned to their previous level of sports activity. Median Tegner Lysholm Knee Score was 100/100 and Kidscreen-10 was 50/50. With appropriate treatment, nearly 100% of TTAFs have good functional outcomes and low impact on quality of life.

Operative Pediatric Hand Trauma.

This study aims to describe the epidemiology of hand injuries in pediatric patients undergoing surgical treatment. A retrospective analysis of patients with traumatic hand injuries surgically treated over a 7-year period. A total of 155 patients were included. Fracture was the most common injury type (74.8%), most of which were open (54.3%). Incidence of articular fractures increased with age. The predominant mechanism of injury before age 10 was crush. In toddlers, only central digits were affected. Good functional results were achieved (Quick-DASH 1.37 ± 4.90). The incidence of hand injuries requiring surgery increased with age. The mechanism and segment affected varied with age groups. Although good functional results are expected, complications may occur 33% and secondary surgical procedures in 7.7%.

Pilot Study and Preliminary Results of Biodegradable Intramedullary Nailing of Forearm Fractures in Children.

(1) Background: Diaphyseal forearm fractures are a common injury in children and adolescents. When operative treatment is needed, elastic stable intramedullary nailing (ESIN) is the most common surgical procedure. Although there is no clear evidence, hardware removal after fracture healing is performed in many patients. Often, the primary minimal invasive incision needs to be widened during implant removal. In order to decrease the burden of care of pediatric fractures, significant efforts were made to develop biodegradable implants, which make hardware removal unnecessary. Our study will conduct an observational trial on the clinical use of the Activa IM-Nail™ in forearm fractures in children between 3 and 13 years of age. The objective of this trial is to evaluate the risks and benefits of the Activa IM-Nail™. Among other objectives, the rate of refracture will be determined. (2) Methods: An international Europe-based, multicenter, prospective, single-arm, open-label study will be performed to ascertain the rate of refracture and to determine the subjective benefits of Activa IM-Nail™ for patients, parents and other caregivers. The study will include clinical follow-up including early post-operative complication, radiographs until bony healing and an additional follow-up after 1 year. At this stage, preliminary results and early complications on 76 patients are analyzed in this study and presented. (3) Results: As of April 2022, 76 patients were enrolled as per study protocol. There were 31 girls (40.8%) and 45 boys (59.2%). The mean age at the time of inclusion was 8.9 years (±2.4 years). The mean operation time was 58.9 ± 22.9 min (range, 15-119 min). The mean follow-up time was 8.9 ± 5.1 months (range, 0.2-18.6). Up to now, one refracture has occurred in one child falling from a height of about one meter 7 months after index surgery (1/76; 1.3%). (4) Conclusion: The research project assesses the safety and effectiveness of Activa IM-Nails™ as part of the surgical treatment of dislocated forearm fractures in children in the context of a PMCF study. The use of Activa IM-Nails™ with regard to various objectives, including postoperative complications and refracture rate, seems to be equal to the standard titan ESIN procedure compared to the literature. Preliminary results are encouraging and are made available.

Femoral varus derotation osteotomy for the treatment of habitual subluxation and dislocation of the pediatric hip in trisomy 21: a 10-year experience.

BACKGROUND: Habitual hip subluxation and dislocation are potentially disabling features of the trisomy 21 syndrome. We describe outcomes after a femoral varus derotation osteotomy to achieve and maintain hip stability and community ambulation. METHODS: All individuals with trisomy 21, who underwent hip surgery at our institution between 1998 and 2008, were searched using the hospital databases. The clinical notes and radiographs were reviewed from presentation to final follow-up. Nine children (16 hips) aged below 10 years, were identified. All had a femoral varus derotation osteotomy with a target femoral neck-shaft angle (NSA) of 105 degrees and external rotation of < 20 degrees of the distal fragment. All were performed by the senior author. RESULTS: Mean age at first known hip dislocation was 4.6 years (range, 4 to 5.2 y), mean age at surgery was 6.1 years (range, 5.2 to 7.0 y), and mean follow-up was 5.4 years (range, 3.8 to 7.1 y). Mean NSA fell postoperatively to 106.0 degrees (range, 103.1 to 110.2 degrees) from 166.7 degrees (range, 162.2 to 171.1 degrees). In 2 hips, intraoperative instability remained, requiring immediate periacetabular osteotomy and capsulorraphy.Postoperatively, all patients demonstrated an asymptomatic waddling gait, which persisted in 1 individual. Fourteen hips developed peritrochanteric varus deformities with a mean center of rotation and angulation of 21 degrees (range, 16 to 25 degrees). Two hips (12.5%) sustained implant-related fractures 4 and 8 years postoperatively. One hip (6.3%) developed arthritis and none had redislocated at latest follow-up. CONCLUSIONS: Sequelae from recurrent subluxation or dislocation of hips in trisomy 21 may require surgery to prevent eventual disability.We recommend a varus producing proximal femoral osteotomy correcting the NSA to approximately 105 degrees. This should be performed before the age of 7 years or a widened or V-shape teardrop develops. After 2 implant-related fractures, we recommend implant removal once the osteotomy has healed and the hip stabilized.In our experience, this approach is effective in maintaining hip stability. LEVEL OF EVIDENCE: A level 4 study, looking at a specific patient population undergoing a particular procedure.

Neglected clubfoot treated by serial casting: a narrative review on how possibility takes over disability.

The Ponseti Method is recognized as the best treatment for congenital idiopathic clubfoot in newborns and its principles became also adopted for treating older children with neglected deformity. This review aims to evaluate the role and effectiveness of serial casting in the treatment of neglected clubfoot, worldwide. Clubfoot is a complex tridimensional congenital foot deformity that can be easily treated after birth by correct manipulation of the foot and serial casting, with a great majority of cases requiring a percutaneous Achilles tenotomy, which can be organized as an ambulatory day procedure, without need for general anesthesia. However, in many low-income countries, treatment is not readily available, and many children grow up with disabling foot deformities. When compared to a newborn's clubfoot, a neglected clubfoot is different and more challenging to treat, as bones become ossified while malaligned and exposed to abnormal forces. Application of the Ponseti method in children with untreated idiopathic clubfoot older than walking age leads to satisfactory outcomes, has a low cost, and avoids surgical procedures likely to cause complications. The upper age limit for the use of Ponseti Method in clubfoot treatment is yet to be established. Success of clubfoot treatment is mostly defined as a pain-free, aesthetically acceptable plantigrade foot, with no need for extensive surgical tissue release after casting and tenotomy. The results of the Ponseti method for the treatment of clubfoot in children after the walking age are encouraging, with more than 80% of success in achieving initial correction and 18-62.5% of relapses. If Ponseti casting is not successful, any further interventions should be carefully selected and planned, in order to maintain the length of the foot and avoid intracapsular scarring or bony fusions.

A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement.

A Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand muscles. The causative gene is the Berardinelli-Seip congenital lipodystrophy 2 ( BSCL2) , which is related to a spectrum of neurological phenotypes. In the current study, we presented a 14-year-old male with a slowly progressive spastic paraparesis with urinary incontinence that later on exhibited atrophy and weakness in the thenar and dorsal interosseous muscles. Magnetic resonance imaging (MRI) revealed discrete atrophy of the corpus callosum isthmus and an extended next-generation sequencing panel identified a de novo heterozygous mutation in BSCL2 gene, c.269C > T p.(S90L). Various clinical expression and incomplete penetrance of BSCL2 gene mutations complicate the establishment of a genetic etiology for these cases. Therefore, Silver syndrome should be included in the differential diagnosis if the initial presentation is a spastic paraparesis by urinary involvement with childhood-onset, even with MRI atypical findings. This report described the first Iberian Silver syndrome case carrying a de novo c.269C > T p. (S90L) BSCL2 gene mutation.