The National Institute of Neuromotor System

PurposeCorrecting severe deformities associated with advanced stages of Blount’s disease in adolescents varies in the literature between acute and gradual corrections. We aimed to report the early results (radiological and complications) of performing acute medial tibial plateau elevation combined with gradually correcting the metaphyseal deformity using an Illizarov external fixator in adolescents with late-presenting infantile Langenskiold stage V and VI Blount’s disease.MethodsA prospective case series of 24 patients (24 limbs) with Langenskiold stage V and VI Blount’s disease having a mean age of 11.63 ± 1.74 years were included. The radiological outcomes included hip-knee-ankle (HKA) angle, medial proximal tibial angle (MPTA), joint line convergence angle (JLCA), Posterior proximal tibial angle (PPTA), and medial tibial plateau depression angle (MTPDA). Complications at any time point were reported.ResultsThe Illizarov frame was removed after a mean of 14 ± 2.04 weeks postoperatively. After a mean follow up of 23.33 ± 9.43 months, all the radiological outcomes improved significantly (< 0.001) compared to preoperative values, HKA: 182.17 ± 1.97 vs. 148.29 ± 9.88, MPTA:88.0 (87.0–90.0) vs. 75.5 (70.0–80.0), PPTA 82.0 ± 1.82 vs. 67.67 ± 5.02, JLCA: 2.46 ± 1.77 vs. 19.92 ± 2.75, and MTPDA: 1.96 ± 2.07 vs. 50.08 ± 7.19. No cases of neurovascular complications. The pin tract infection rate was 62.5%, and all were treated conservatively. Varus deformity recurred in 5 (20.8%) patients, all at the metaphyseal level, with no collapse at the elevated medial tibial plateau. Significant Leg length discrepancy (> 2 cm) was encountered in 6 (25%) patients (five were patients with recurrent varus deformities, where the LLD was compensated after deformity correction).ConclusionThe management protocol we adopted, which entailed acute elevation of the medial tibial plateau depression combined with gradual correction of the proximal tibial deformity assisted by the Illizarov external fixator, provided promising results regarding its safety, ability of full deformity correction, and acceptable recurrence incidence.Clinical trial registrationNot applicable.

Monogenic liver disorders constitute a major disease burden in pediatric patients presenting with manifestations of liver disease. This is particularly significant in countries with high rates of consanguinity as in Egypt. We recruited 228 infants and children suffering from various forms of liver disease with suspected monogenic background and no conclusive biochemical diagnosis. They presented to the Pediatric Hepatology Unit at Cairo-University-Children’s-Hospital, Egypt, over the period April 2017-June 2023 and were referred for genetic diagnosis by various next-generation-sequencing technologies. One-hundred and eighty-five children (81.1%) had a significant genetic finding. Those included 88 children with a main presentation of organomegaly, 83 with cholestasis, 8 with acute liver failure and 6 with hyperbilirubinemic syndromes. One-hundred seventy-five disease-causing variants (51 pathogenic, 86 likely-pathogenic and 38 of uncertain-significance) in 72 different genes were detected in our cohort, including 85 novel variants in 49 different genes. Variants in AGL (Glycogen storage disease type-III; GSD3), ABCB4 (Progressive familial intrahepatic cholestasis type-III; PFIC3) and ABCB11 (PFIC2) genes were the most common affecting 19, 14 and 13 children, respectively. This study is the first to provide the landscape of pediatric monogenic liver diseases in a homogenous population from the Middle East and Africa, an area notoriously known to be poorly represented in genetic database and literature. Furthermore, our presented data are extremely important for genetic counseling and prenatal diagnosis and will further guide national health care policy makers to prevent or mitigate the effects of such disorders in the future.

Background: Osteoarthritis is the most common joint disease affecting mostly the knee joint and characterized by progressive loss of articular cartilage, subchondral sclerosis, and joint space narrowing. Purpose: To assess the effectiveness of low-level laser therapy (LLLT) with Maitland mobilization for patients suffering from chronic knee osteoarthritis. Subjects and methods : Randomized controlled trial including 75 male and female individuals, with age ranging from 50 to 65 years distributed among three groups randomly. Group A was administered LLLT and the Maitland mobilization in addition to conventional physical therapy (CPT) , group B underwent LLLT and CPT and group C underwent Maitland mobilization and CPT. The intensity of pain was measured utilizing a visual analog scale (VAS), pressure pain threshold (PPT) estimated by pressure algometer, measurements of range of motion (ROM) performed using a digital goniometer, while functional abilities assessed by KOOS-PS, a short form for knee injuries and osteoarthritis outcome. Results: The study revealed non statistically noteworthy variations in the mean values of pain among the three groups pre study (p = 0.896) and post study (p = 0.189), no significant variation in the average values of PPT (right and left) knees pre study (p = 0.813 and 0.836) and post study (p = 0.122 and 0.384) respectively also no significant variations in the mean values of KOOS-PS pre study (p = 0.425), and post study (p = 0.101). Conclusion: Findings of the study indicate that LLLT along with Maitland mobilization had the same effect as using one of these modalities alone

This study aimed to compare the outcomes of the accelerated and standard Ponseti method for clubfoot pathology by constructing a systematic review and meta-analysis of relevant randomized controlled trials and nonrandomized comparative studies. A systematic search was conducted to identify the relevant studies through PubMed, Google Scholar, and Cochrane depending on Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The keywords used included "accelerated" AND "standard" AND "Ponseti" AND "clubfoot" AND "Congenital Talipes Equinovarus" AND "CTEV" AND "prospective comparative design" AND "randomized trial." We conductedthis analysis among 13 studies that met the criteria adopted in this reviewwhere eight studies were prospective comparative studies, and five studies were randomized prospective comparative studies which were published in the period between2015 and 2022. Statistically, accelerated Ponseti showed superior impact over standard Ponseti considering the duration of treatment (22.53 days vs. 40.61 days, p<0.001). No significant difference was reported between the two methods considering final Pirani score (0.64 vs. 0.56, p=0.194), number of casts (5.23 vs. 5.25, p=0.425), rate of tenotomy (66.2% vs. 63.1%, OR=1.246, 95% CI: 0.86-1.80, p=0.245), relapse rate (9.51% vs. 8.54%, OR=1.126, 95% CI: 0.68-1.86, p=0.642) and complication rate (14.4% vs. 13.1%, OR=1.130, 95% CI: 0.58-2.19, p=0.717). We concluded thatthe accelerated Ponseti method could achieve comparable efficacy to the standard method in terms of post-procedure Pirani score, tenotomy rate, relapse rate, complications rate, and number of casts needed by the patients with advantage of requiring shorter duration of treatment which is associated with more patient's compliance.

Background: Epilepsy is one of the most common neurological diseases affecting human health and requires long-term treatment. Monitoring the side effects of the drugs used in treatment is therefore very important, particularly in pediatric patients. Aim: To detect the effects of some antiepileptic drugs (valproic acid and carbamazepine) on pulmonary functions in children with idiopathic epilepsy aiming to decrease morbidity and mortality.Patients and Methods: A case control study included 63 children including 36 males and 27 females aged between 6:14 years old, 42 epileptic patients, and 21 healthy children as controls. Patients were divided into 21 patients treated with one drug (either valproic acid or carbamazepine) and 21 patients treated with combined therapy of valproic acid and carbamazepine. Pulmonary function test using spirometry was performed on both patients and controls who were age and sex-matched. Results: We found a statistically significant decrease in all pulmonary functions in children receiving antiepileptic drugs compared to normal individuals. Regarding pulmonary functions, (Peak-expiratory flow) PEF% was the most affected function with a mean of 91% in normal children, 80% in the monotherapy group, and 68% in the polytherapy group. Whereas there was no statistically significant difference in PFTs in the monotherapy group compared to polytherapy one. Moreover, we found a statistically significant reduction in pulmonary functions in patients and an increase in the duration of treatment particularly in the CBZ group. Conclusion: Treatment with antiepileptic drugs for a prolonged time can affect pulmonary functions in epileptic children in the form of a restrictive pattern.

Background: His subluxation and other problems [valgus deformity] are common with cerebral palsy. The treatment is surgery as a role. However, the optimal method is not yet determined. Evaluating the minimal invasive varus osteotomy of hip valgus deformity in children with cerebral palsy. A prospective study on 20 subluxated hips in 18 patients with cerebral palsy [CP] was conducted. They were treated with minimally invasive subtrochanteric varus derotation osteotomy and followed up for 6 months at least. The preoperative clinical laboratory and imaging assessment was thoroughly performed. Locally, all patients were checked for muscle tone, reflexes and hip range of motion of both lower limb joints. Post-operative care done regularly with clinical and xray imaging to assess Shanz position. The final radiological assessment directed to migration percentage, acetabular index, neck shaft angle and the center edge angle of Wiberg. The mean Gross Motor Function Classification System [GMFCS] was 4.61±0.62 [and] 4.38±0.59 in pre-and post-operative periods respectively with significant reduction after surgery. Hip pain and ability to sit comfortable reduced significantly after surgery. The acetabular index and neck shaft angles were also significantly reduced after surgery, while the center edge angle of Wiberg was significantly increased after than before surgery. There were no early postoperative complications during period of hospital stay [2 days]. However, there were 3 cases of superficial wound infection. One patient of hardware failure. Finally, no deep infection reported. Percutaneous varus derotation femoral osteotomy is effective and safe treatment option for hip deformity in cerebral palsy.

Objective: The present work aimed to assess the abductor hallucis (AH) muscle changes using sonographic and electrophysiologic studies in flatfoot patients. Patients and methods: This study included 60 patients with flatfoot deformity (group I) and 20 age and sex-matched healthy individuals as a control group (group II). The patients were subjected to full history taking, clinical assessment, foot x-ray examination, high-resolution ultrasound, and surface electromyography (EMG) of AH muscle. Using a plain xray, Meary's angle was measured, and severity grading was categorized for the patient group. Results: The AH ultrasonography revealed a significant difference between patient and control groups regarding crosssectional area (CSA) (P < 0.05). The EMG of the AH muscle showed a statistically significant reduction in the amplitude of motor unit action potential (MUAP) in patients with flat foot compared with the control group (P < 0.05). No statistically significant differences were found between different severity of the deformity regarding both ultrasound measurements and surface EMG. The AH CSA was significantly correlated with muscle activity (P < 0.05), while there was no significant correlation between AH CSA and severity of deformity (P > 0.05). Conclusion: Patients with flatfoot showed significant structure and function changes regarding AH muscle. These changes could be assessed using sonographic and electrophysiologic studies.

PurposeThe purpose of this study is to evaluate the short-term results of lateral closing wedge osteotomy with medial hemiplateau elevation for the management of severe infantile Blount's disease.Materials and methodsIn this prospective study, 11 cases of severe Blount's disease (Langenskiold stages five and six) were managed in the period between January 2017 and January 2020. Double osteotomy technique was applied, namely a metaphyseal closing wedge and a medial hemiplateau elevation, through a single midline incision. Fixation was achieved by a medial anatomical locked plate. Patients were evaluated clinically according to a modified version of paediatric outcomes data collection Instrument (PODCI) and radiologically by measuring the angle between the tibial and the femoral shaft, the mechanical axis deviation (MAD) and the angle of the medial tibial plateau (MTP) depression.ResultsThe average follow-up period was 2 years. Healing of the osteotomies was achieved in all cases after the index operation within an average of 3 months. Based on our modification of the PODCI score, five cases had an excellent outcome, five were good, and one case ended with a fair outcome. No major complications were encountered in this study.ConclusionThe management of severe Blount's disease by acute correction using the aforementioned technique has been proven to achieve acceptable clinical and radiological outcomes without significant complications.Level of evidenceLevel IV case series study.How to cite this articleNada AA, Hammad ME, Eltanahy AF, et al. Acute Correction and Plate Fixation for the Management of Severe Infantile Blount's Disease: Short-term Results. Strategies Trauma Limb Reconstr 2021;16(2):78–85.

Abstract Background Limb-girdle muscular dystrophies (LGMDs) are a clinically and genetically heterogeneous group of disorders characterized by progressive muscle weakness and degenerative muscle changes. Studies have shown that ultrasound can be useful both for diagnosis and follow-up of LGMDs patients. Objectives This study aims to measure the sensitivity and the specificity of muscle ultrasound in assessment of suspected limb girdle muscular dystrophy patients. Subjects and Methods This cross-sectional descriptive study was conducted on Fifty-five patients with suspected LGMD from neuromuscular unit, myology clinic, Ain Shams University hospitals and eight healthy subjects. Age was above 2 years. Both sexes were included in the study. They underwent real-time B-mode ultrasonography performed with using Logiq p9 General Electric ultrasound machine and General Electric 7-11.5 MHZ linear array ultrasound probe. All ultrasound images have been obtained and scored by a single examiner and muscle echo intensity was visually graded semiquantitative according to Heckmatt's scale. The examiner was blinded to the muscle biopsy results and clinical evaluations. Results Statistical analysis revealed that the diagnostic performance of muscle US (Heckmatt’s score) in LGMD is most sensitive when calculated in all examined upper limb and lower limb muscles, followed by lower limb muscles alone. US of upper limb was found to be the least sensitive. Conclusions Muscle ultrasound is a practical and reproducible and valid tool that can be used in assessment of suspected LGMD patients.