Three-staged correction of severe rigid idiopathic scoliosis using limited halo-gravity traction

Introduction

Despite the advantages of modern instrumentation techniques, the treatment of severe rigid idiopathic scoliosis could be very demanding. Traction can provide better, safer correction and minimize complications related to forceful intra-operative maneuvers; however, several side effects are associated with prolonged periods of traction. The aim of this work is to review the clinical and radiographic results of limited perioperative halo-gravity traction in severe rigid curves analyzing its efficacy, advantages and possible complications and comparing it to classic two staged corrections performed without traction.

Methods

A retrospective case control study including 47 adolescents with severe rigid idiopathic scoliosis divided into two groups; a consecutive series of 21 patients who had a three-staged correction by an anterior release, 2 weeks of halo-gravity traction then posterior instrumentation (TRN group); compared to an earlier series of 26 consecutive patients treated without traction (SAP group). The average age was 18 years + 1 month and 16 years + 2 months, respectively. The average preoperative dorsal and lumbar curves for (TRN) group were 106.5° and 87°, respectively, and for (SAP) group were 102° and 81°, respectively.

Results

Patients were followed up for an average of 6 years (range 3–8 years). A significantly better correction was achieved in (TRN) group (average 59%) compared to (SAP) group (average 47%). At final follow-up, the loss of correction had an average of 8° for (TRN) group and 11° for (SAP) group. A shorter hospital stay was found in (SAP) group; a shorter operative time was found in (TRN) group and there was no significant difference in blood loss, early or delayed complications.

Conclusions

Limited halo-gravity traction is an efficient, safe modality in the treatment of severe rigid adolescent scoliosis. The application of gradual traction over a limited period of 2 weeks led to better correction, shorter operative time with no significant complications.     

Physical capacity of girls with mild and moderate idiopathic scoliosis: influence of the size, length and number of curvatures

Introduction

Idiopathic scoliosis affects the locomotor system; however, it can considerably impair the function of cardiovascular and respiratory systems. The aim of the study was to assess parameters indicating the physical capacity of adolescent girls with mild or moderate idiopathic scoliosis.

Materials and Methods

The study included 97 girls, aged 10–18 years: 70 girls, aged 13.84 ± 2.2 years, with idiopathic thoracic scoliosis (Cobb angle 10°–40°) formed the study group and 27 healthy girls, aged 13.2 ± 1.9 years, formed the control group. The girls underwent the Physical Work Capacity 170 (PWC170) test on a cycle ergometer based on two 5-min submaximal physical effort events. The maximum oxygen intake was calculated and expressed in l/min and ml/kg/min. The impact of the curvature angle value, of the number of vertebrae within the curve and of the number of the curves on the physical capacity parameters was analyzed.

Results

The maximal oxygen intake (l/min) and PWC170 (W; W/kg) values were considerably lower in girls with scoliosis of 25°–40° than in the control group. No significant differences were observed between girls with mild scoliosis (10°–24°) and the control group. Statistical analysis did not show any significant impact of the number of vertebrae affected by scoliosis and the number of curvatures on VO₂max (l/min; ml/kg/min) and the PWC170 (W) indicator. In the group of girls with scoliosis involving more than nine vertebrae, the PWC170 (W/kg) indicator was significantly lower than in the control group. A similar correlation was observed between girls with double-curved scoliosis and the control group (p < 0.05).

Conclusion

The maximum oxygen intake and the output during the PWC170 test is lower in girls with moderate scoliosis than in the control group. The value of maximum oxygen intake and output obtained during the PWC170 test in girls with mild scoliosis does not differ significantly from the values obtained in the control group. The number of vertebrae involved in scoliotic deformation and the number of curvatures cause significant decrease in only the relative value of the output obtained during an exercise test.     

Retrograde dynamic locked nailing for valgus knee correction: a revised technique

Purpose

Traditionally, valgus knee deformity is predominately corrected by stabilisation with a plate inserted via the medial approach to the supracondylar region of the femur. However, this technique is unfavourable from both a biomechanical and a biological point of view. A revised retrograde dynamic locked nailing was developed to improve correction of this defect.

Method

Forty-one knees with valgus deformity (average tibiofemoral angle, 22°; range, 16–29°) in 25 adult patients were treated by oblique femoral supracondylar varus osteotomy and stabilised with retrograde dynamic locked nails. Postoperatively, early ambulation with protected weight bearing and range of motion knee exercises were encouraged.

Result

Thirty-five knees of 21 patients were followed-up for an average of 2.6 years (range, 1.1–4.5 years). All osteotomy sites healed with an average union period of 3.4 months (range, 2.5–5.0 months). There were no significant complications. At the latest follow-up, the average tibiofemoral angle was 7.1° valgus (range, 4–10° valgus). For all of the knees, the outcomes were satisfactory (p < 0.001).

Conclusion

The technique described here may be a feasible alternative for correction of valgus knee deformity. The advantages of this technique include the use of a biomechanically more appropriate method, a minimal complication rate and a high rate of satisfactory outcomes.     

Evolution of the curve patterns during brace treatment for adolescent idiopathic scoliosis

Summary of background data

The curve pattern of idiopathic scoliosis is important for making decisions concerning bracing. However, whether the curve pattern changes during brace treatment have not been fully documented. The aim of this study was to investigate the changes of curve pattern during brace treatment in skeletally immature patients with adolescent idiopathic scoliosis (AIS).

Methods

From January 2002 to January 2011, AIS patients treated with a Boston or Milwaukee brace were recruited after meeting the following inclusion criteria: older than 10 years of age at initiation of bracing; having a Cobb angle of 25°–40°; with a Risser sign 0–2; being regularly followed until the weaning of brace or the necessity of surgical treatment; and without history of previous treatment. A total of 130 female and 11 male AIS patients were included. The mean age was 12.9 years at initiation of bracing, and the female patients were, on average, 2.7 months past menarche. The mean follow-up period was 2.6 years (range 1.0–5.5 years). The definitions of changes in curve patterns were divided into four categories as follows: (1) shift of the apex of the main curve; (2) change in the curve span of more than two vertebrae; (3) change in the main curve type with regard to the apex location; and (4) change of curve direction. The patients were divided into two groups. Group A was comprised of patients who had experienced one or more categories of curve pattern changes, and Group B was comprised of those who had not.

Results

Of these 39 patients, 14 had apex shifting, 2 underwent curve span changes, 22 experienced changes in the main curve type, and one female had both changes in the apex and curve span. At the initiation of bracing, patients in Group A demonstrated significantly lower menarchal status (P = 0.018) and lower Risser grade (P = 0.025) than those in Group B. The difference in the percentage of patients who underwent Boston bracing between the two groups was statistically significant (41.5 % for Group A vs. 24.0 % for Group B, P = 0.023).

Conclusion

Changes in curve pattern can occur during brace treatment. Patients with less skeletal maturity and those treated with a Boston brace are more susceptible to this phenomenon.     

Early Results of Sacro–Iliac Joint Fixation Following Long Fusion to the Sacrum in Adult Spine Deformity

Background

The sacro–iliac joint (SIJ) is the largest joint in the human body. When the lumbar spine is fused to the sacrum, motion across the SIJ is increased, leading to increased degeneration of the SIJ. Degeneration can become symptomatic in up to 75% of the cases when a long lumbar fusion ends with a sacral fixation. If medical treatments fail, patients can undergo surgical fixation of the SIJ.

Questions/Purposes

This study reports the results of short-term complications, length of stay, and clinical as well as radiographic outcomes of patients undergoing percutaneous SIJ fixation for SIJ pain following long fusions to the sacrum for adult scoliosis.

Methods

A retrospective review of all the patients who underwent a percutaneous fixation of the SIJ after corrective scoliosis surgery was performed in a single specialized scoliosis center between the years 2011–2013. Ten SIJ fusions were performed in six patients who failed conservative care for SIJ arthritis. Average age was 50 (range 25–60 years). The patients were 15.3 years in average after the original surgical procedure (range 4–25 years). Average post-operative follow-up was 10.25 months (range 15–4 months). The medical charts of the patients were reviewed for hospital stay, complications, pre- and post-operative pain, quality of life, and satisfaction with surgery using the visual analogues score (VAS), Scoliosis Research Society (SRS)22 and Oswestry Disability Index (ODI) questionnaires. Images were reviewed for fixation of the SIJ, fusion, and deviation of the implants from the SIJ.

Results

There were no complications in surgery or post-operatively. Discharge was on post-operative day 2 (range 1–4 days). Leg VAS score improved from 6.5 to 2.0 (P < 0.005; minimal clinically important difference (MCID) 1.6). Back VAS score decreased from 7.83 to 2.67 mm (P < 0.005; MCID 1.2). ODI scores dropped from 22.2 to 10.5 (P = 0.0005; MCID 12.4). SRS22 scores increased from 2.93 to 3.65 (P = 0.035; MCID 0.2) with the largest increases in the pain, function, and satisfaction domains of the questionnaires.

Conclusion

Fixation of the SIJ in patients that fail conservative care for SIJ arthritis after long fusions ending in the sacrum provides a reduction in back pain and improved quality of life in the short and medium range follow-up period.

Electronic supplementary material

The online version of this article (doi:10.1007/s11420-013-9374-4) contains supplementary material, which is available to authorized users.     

Arthroscopic radial head excision in managing elbow trauma

Purpose

This study describes a case series of 15 patients with radial head fractures who underwent radial head excision using an arthroscopic technique.

Methods

Over a four year period, 15 patients (average age 49.6 years) who had sustained a radial head or radial neck fracture underwent an arthroscopic excision of the radial head. Four patients had an unreconstructable comminuted fracture (early group; EG) and 11 patients had pain and loss of motion with an associated non- or malunion (late group; LG).

Results

The mean time to surgery following injury was three weeks (one to five) for the EG and 27 weeks (eight–58) for the LG. The average visual analogue scale (VAS) was 1.7 (zero to four), and the average Quick Disabilities of the Arm, Shoulder and Hand (Quick-DASH) score was 24.7 (16–44). At final follow-up, average supination was 62.0° (range 45–75°) and pronation was 63.3° (range 45–75°). There were no complications.

Conclusion

This series demonstrates that arthroscopic excision of fractures of the radial head and neck is reliable, reproducible and safe, with similar results to open excision. There may also be additional benefits in the short term with regards to speed of healing and rehabilitation.     

Association of rs11190870 near LBX1 with adolescent idiopathic scoliosis susceptibility in a Han Chinese population

Purpose

To investigate whether rs11190870 near LBX1 correlates with the susceptibility or curve progression of adolescent idiopathic scoliosis (AIS) in a Han Chinese population.

Methods

A total of 949 AIS patients and 976 age-matched healthy controls were recruited. All the subjects were genotyped using the PCR-based invader assay. Case–control study and case-only study were performed to define the contribution of rs11190870 to predisposition and curve severity of AIS. Additionally, we further conducted a meta-analysis of the study findings together with those of previously reported studies.

Results

A significant association of rs11190870 with AIS was observed in the Han Chinese population (P = 1.8 × 10⁻⁹; odd ratio = 1.51; 95 % confidence interval = 1.33–1.71), and AIS patients with TT genotype had a larger Cobb angle than those with TC or CC genotype (P = 0.005). The meta-analysis confirmed that the positive association of this SNP with AIS in the East Asian population.

Conclusions

The SNP rs11190870 near LBX1 is associated with both susceptibility and curve progression of AIS.     

Prevalence of complications in neuromuscular scoliosis surgery: a literature meta-analysis from the past 15 years

Purpose

Our objectives were primarily to review the published literature on complications in neuromuscular scoliosis (NMS) surgery and secondarily, by means of a meta-analysis, to determine the overall pooled rates (PR) of various complications associated with NMS surgery.

Methods

PubMed and Embase databases were searched for studies reporting the outcomes and complications of NMS surgery, published from 1997 to May 2011. We focused on NMS as defined by the Scoliosis Research Society’s classification. We measured the pooled estimate of the overall complication rates (PR) using a random effects meta-analytic model. This model considers both intra- and inter-study variation in calculating PR.

Results

Systematic review and meta-analysis were performed for 68 cohort and case–control studies with a total of 15,218 NMS patients. Pulmonary complications were the most reported (PR = 22.71 %) followed by implant complications (PR = 12.51 %), infections (PR = 10.91 %), neurological complications (PR = 3.01 %) and pseudoarthrosis (PR = 1.88 %). Revision, removal and extension of implant had highest PR (7.87 %) followed by malplacement of the pedicle screws (4.81 %). Rates of individual studies have moderate to high variability. The studies were heterogeneous in methodology and outcome types, which are plausible explanations for the variability; sensitivity analysis with respect to age at surgery, sample size, publication year and diagnosis could also partly explain this variability. In regard to surgical complications affiliated with various surgical techniques in NMS, the level of evidence of published literature ranges between 2+ to 2−; the subsequent recommendations are level C.

Conclusion

NMS patients have diverse and high complication rates after scoliosis surgery. High PRs of complications warrant more attention from the surgical community. Although the PR of all complications are affected by heterogeneity, they nevertheless provide valuable insights into the impact of methodological settings (sample size), patient characteristics (age at surgery), and continual advances in patient care on complication rates.

Electronic supplementary material

The online version of this article (doi:10.1007/s00586-012-2542-2) contains supplementary material, which is available to authorized users.     

Comparison of wire and disc leads to activate the expiratory muscles in dogs

Objective

Respiratory complications account for a major cause of morbidity and mortality in subjects with spinal cord injury (SCI) due to paralysis of the expiratory muscles and the consequent inability to generate effective cough. We demonstrated previously that effective cough can be restored in SCI via spinal cord stimulation (SCS) with disc leads positioned on the lower thoracic and upper lumbar spinal cord via laminotomy incisions. In this study, the effectiveness of wire leads, which can be placed using minimally invasive techniques, to activate the expiratory muscles was evaluated.

Design

Animal study.

Setting

Research laboratory.

Animals

Dogs (n = 8).

Interventions

In separate trials, disc and wire leads were inserted onto the dorsal epidural space at the T9, T11, and L1 spinal cord levels. Effects of electrical stimulation with disc, single wire, and two wire leads placed in parallel were compared.

Outcome measures

Airway pressure generation following stimulation with disc and various configurations of wire leads were compared.

Results

Several different configurations of wire leads resulted in airway pressures that were similar to those generated with monopolar stimulation with disc leads (MSDLs). For example, combined monopolar stimulation with parallel wire leads at the T9 + T11 and T9 + L1 levels resulted in airway pressures that were 103.5 ± 6.4 and 101.9 ± 7.0%, respectively, of those achieved with MSDL. Bipolar stimulation with parallel wire leads at T9–T11 and T9–L1 resulted in airway pressures that were 94.2 ± 3.4 and 96.8 ± 5.0%, respectively, of the pressures achieved with MSDL. Other wire configurations were also evaluated, but were generally less effective.

Conclusion

These results suggest that specific configurations of wire leads, which can be placed via minimally invasive techniques, result in comparable activation of the expiratory muscles compared to disc leads and may be a useful technique to restore cough in persons with SCI.     

Surgery for pressure ulcers improves general health and quality of life in patients with spinal cord injury

Study Design:

Prospective clinical study.

Background:

Pressure ulcers interfere with the rehabilitation process in patients with spinal cord injury (SCI) and are a significant deterrent to participation in activities that contribute to independent, productive, and satisfying life.

Objective:

To evaluate the effect of surgery for pressure ulcers on general health and quality of life in patients with SCI.

Setting:

Tertiary care center in northern India.

Methods:

Various types of flap surgery were performed on 30 patients with SCI and 32 pressure ulcers (stages III and IV). Outcome was evaluated using general improvement in health (hemoglobin, serum proteins, and general well-being), patient satisfaction, and global quality of life scores (according to the visual analog scale).

Results:

At admission, the mean values of global quality of life, hemoglobin, serum albumin, and total serum proteins were 50.15 (range, 30–65), 8.75 g/dL (range, 6–12 g/dL), 3.12 g/dL (range, 2.9–4.3 g/dL), and 5.21 (range, 5–6.2 g/dL), respectively. At 6-month follow up, mean values of global quality of life score, hemoglobin, serum albumin, and total serum proteins were 87.36 (range, 44–96), 10.85 g/dL (range, 8.2–13.5 g/dL), 3.89 g/dL (range, 3.2–4.5 g/dL), and 6.43 g/dL (range, 5.85–6.70 g/dL), respectively. The overall rise in quality of life scores, hemoglobin, serum albumin, and total serum proteins was statistically significant. Most of the patients (76.7%) reported improvement in subjective well-being, and 83.3% were satisfied with the ultimate outcome of the surgery.

Conclusion:

Results suggest that surgery for stages III and IV pressure ulcers offers the greatest benefit to the patients in terms of improvement in general health (anemia, hypoproteinemia, and general well-being) and quality of life.     

Chiari I malformation associated with syringomyelia: can foramen magnum decompression lead to restore cervical alignment?

Purpose

There are few researches that demonstrate the relationship between the extent of syringomyelia and sagittal alignment of the cervical spine. The purpose of this study is to investigate the correlation between the change of syrinx size and cervical alignment.

Methods

From January 2001 to June 2008, we operated on 207 patients who had syringomyelia. The associated diseases were categorized by Chiari I malformation, tumor, trauma, spinal stenotic lesion, inflammatory disease and idiopathic causes. Thirty patients who had Chiari I malformation associated with syringomyelia and who underwent foramen magnum decompression (FMD), participated in this study. We excluded patients with scoliosis, cervical instrumentation, tumor, trauma, myelomeningocele, hydrocephalus, tethered cord and congenital vertebral anomalies. Lateral radiographs in neutral and magnetic resonance imaging were taken pre- and postoperatively.

Results

Mean follow-up was 6.5 ± 1.5 years (ranged from 4.0 to 9.5 years). The mean pre- and postoperative lordosis angles at C2–C7 were −5.9° ± 1.0° and −10.4° ± 1.0°, respectively (P = 0.001). There was significant correlation between the differences of syrinx width and the cervical lordotic angles before and after surgery (P = 0.016). After FMD, syringomyelia and cervical alignment improved in 28 (93.3 %) and 25 (85.18 %) of 30 patients, respectively. There was significant correlation between recovery rate by Japanese Orthopaedic Association scores and the difference of the cervical lordotic angles before and after surgery (P = 0.022).

Conclusions

The present results demonstrate that the decrease of syrinx size by FMD may restore the cervical lordosis. We suggest that the postoperative cervical alignment might be a predictive factor for neurological outcome.     

Factors associated with the success of the Rigo System Chêneau brace in treating mild to moderate adolescent idiopathic scoliosis

Background

Adolescent idiopathic scoliosis (AIS) is the most prevalent spine deformity within the pediatric population. Orthosis is the mainstay of conservative treatment for mild to moderate AIS. The Rigo System Chêneau (RSC) brace is a custom-made thoracolumbar sacral orthosis (TLSO) based on a three-dimensional correction concept. The purpose of this study was to identify factors that could predict the therapeutic success/failure of the RSC brace.

Materials and methods

A retrospective cohort study was performed on all consecutive patients according to the Scoliosis Research Society (SRS) criteria for the success of conservative treatment. Participants had a 2-year follow-up beyond the termination of brace treatment. All patients were treated with the RSC orthotic device.

Results

Ninety-three patients met the inclusion criteria. At treatment onset, their average age was 12.9 years, average Cobb angle 31.97°, Risser score 1.07, and the mean angle of thoracic rotation (ATR) was 10.2°. The mean brace treatment period was 36 months. Treatment was successful in 83.8 % of these patients (n = 79). The average final Cobb angle was 28.97°, Risser score 4.88, and ATR 8.09°. The pre-treatment factors associated with the success of applying the RSC brace were a high Risser score [odds ratio (OR) = 2.97, 95 % confidence interval [CI] 1.18–7.44; p = 0.02), a low Cobb angle (OR = 0.92, 95 % CI 0.85–0.99; p = 0.02), and low ATR (OR = 0.86, 95 % CI 0.75–0.99; p = 0.04).

Conclusions

The treatment of mild to moderate AIS with the RSC brace provides excellent clinical results. Its added benefit is enabling a three-dimensional correction of a three-dimensional deformity. Pre-treatment high Risser score, low Cobb angles, and low ATRs are associated with treatment success.

Level of evidence

Retrospective analysis, Level III.     

Computer-assisted surgery as indication of choice: total knee arthroplasty in case of retained hardware or extra-articular deformity

Purpose

The use of traditional cutting guides during knee arthroplasty in some cases could be extremely difficult, if not impossible, because of angular deformities, IM sclerosis, long-stemmed hip implants, or hardware within the femoral canal that cannot be removed. In these difficult cases navigation-assisted knee arthroplasty should be considered as an effective and appealing option.

Methods

We present 14 cases in which ideal mechanical and prosthetic alignment was achieved with different image-free, computer-assisted navigation systems, because of an extra-articular deformity (group A, nine patients) or because of a retained implant or hardware (group B, five patients).

Results

After a mean follow-up of 28 months (range 12–53 months), the average knee score increased overall from a mean of 33 points (range 12–63) to 78 points (range 63–90). The average functional score improved from a mean of 32 points (range 10–65) to 72 points (range 40–90). The postoperative mechanical axis ranged between 3° of varus and 3° of valgus. There was an implant revision in one patient who had a traumatic rupture of medial collateral ligament, which occurred 27 months after the index procedure.

Conclusions

Based on our results we think that the navigation-assisted technique provides an alternative approach to the traditional instrumentation for treating these difficult patients in an effective and less invasive manner.     

Scoliosis after thoracotomy/sternotomy in children with congenital heart disease

Context:

Congenital heart disease (CHD) patients bear a higher risk of scoliosis during their lifetime compared to their normal counterparts. On the other hand, operation on chest wall has been shown to increase the risk of scoliosis. However, the data are inconclusive. The present retrospective analysis is undertaken to determine the frequency of post-thoracotomy/sternotomy scoliosis in children with CHD.

Materials and Methods:

One hundred and eighty children with CHD who underwent thoracotomy/sternotomy and had a minimum followup of 3 years in a teaching center from 1997 to 2010 were recruited. After operation, all the patients were regularly examined for the development of scoliosis. 102 patients underwent thoracotomy and 78 sternotomy. Student''s t test, Chi-square test, Fisher''s exact test were used for statistical analyses.

Results:

Eighty-eight males and 92 females with a mean age of 9.95 ± 2.31 (range: 5–15) years were enrolled. The mean age at operation was 2.59 ± 1.66 (range: 0–9) years and the mean follow-up period was 7.36 ± 2.12 (range: 5–13) years. Scoliosis was confirmed in two patients (1.1%): 1 (1%) in the thoracotomy group (a 12-year-old female operated 2 years earlier with a spinal 22° convexity to the right and 78° kyphosis) and another (1.1%) in the sternotomy group (an 8-year-old female operated during her neonatal period with a spinal 23° convexity to the left).

Conclusion:

Scoliosis is not a common finding among the operated children with CHD in our center.     

Posterior approach lumbar and thoracolumbar hemivertebra resection in congenital scoliosis in children under 10 years of age: results with 3 years mean follow up

Introduction

The authors present 15 cases of congenital scoliosis with lumbar or thoracolumbar hemivertebra in children under 10 years of age (mean age at the time of surgery was 5.5 years). Patients were treated by posterior hemivertebra resection and pedicle screws two levels stabilization or three or more levels stabilization in the case of deformity above or under hemivertebra or for severe curve deformities.

Materials and methods

All operated patients had worsening curves; mean follow up was 40 months. The mean scoliosis curve value was 44° Cobb, and reduced to a mean 11° Cobb after surgery. The mean segmental kyphosis value was 19.7° Cobb, and reduced to a mean −1.8° Cobb after surgery. We did not consider total dorsal kyphosis value as all hemivertebras treated were at lumbar or thoracic lumbar level. No major complications emerged (infections, instrumentation mobilization or failure, neurological or vascular impairment) and only one pedicle fracture occurred.

Results

Our findings show that the hemivertebra resection with posterior approach instrumentation is an effective procedure, which has led to significant advances in congenital deformity control, which include excellent frontal and sagittal correction, excellent stability, short segment arthrodesis, low neurological impairment risk, and no necessity for further anterior surgery.

Conclusion

Surgery should be considered as soon as possible in order to avoid severe deformity and the use of long segment arthrodesis. The youngest patient we treated, with a completed dossier at the end the follow up was 24 months old at the time of surgery; the youngest patient treated by this procedure was 18 months old at the time of surgery.     

Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia

Purpose

Neonatal nonketotic hyperglycinemia is an autosomal recessive inborn disorder of glycine metabolism in which large quantities of glycine accumulate in all body tissues. It is characterized by a progressive lethargy, hypotonia, myoclonic jerks, and early death secondary to respiratory problems. As a result of early diagnosis and treatment protocols, more patients survive the critical neonatal period with profound mental retardation, delayed developmental milestones, seizures, and spasticity. There are no reports about the orthopaedic manifestations of neonatal nonketotic hyperglycinemia. The purpose of this study is to evaluate the musculoskeletal findings of neonatal nonketotic hyperglycinemia.

Methods

This is a retrospective IRB-approved study of all patients in our Orthopaedic and Genetics Clinics with the diagnosis of neonatal nonketotic hyperglycinemia during a 10-year period. Demographic, clinical, and imaging data were analyzed.

Results

Twelve patients with neonatal nonketotic hyperglycinemia were evaluated, with a mean age of 7 years and 2 months (range: 5 months to 21 years). Seven were male and five were female. Eleven patients (92 %) have evidence of progressive early-onset neuromuscular scoliosis with a mean Cobb angle of 55° (range: 30–95°). Five children (42 %) presented evidence of progressive hip dislocation secondary to spasticity. All the patients have severe multiple joint contractures.

Conclusion

Neonatal nonketotic hyperglycinemia is a rare metabolic disorder presented in the past as a lethal condition. Recent advances in early diagnosis and neonatal care improve overall outcome. As pediatric orthopaedic surgeons, we need to establish treatment based on update information of the disease and probability to improve quality of life.