The Prevalence of Scoliosis after Fontan Circulation Surgery Followed-Up to Adolescence.

Introduction: The advancement of surgical techniques and perioperative management for congenital heart disease (CHD) has increased life expectancy. The surgical creation of the Fontan circulation maintains pulmonary blood flow without relying on an effective pump from the abnormal heart, relying on peripheral vascular resistance to maintain effective flow through the lungs. Unfortunately, this delicate mechanism is compromised when scoliosis restricts ventilation, leading to Fontan failure and a poor prognosis for life. This report describes the prevalence of scoliosis with Fontan completion surgery and the role of screening and surgical correction. Methods: Ninety-six consecutive Japanese patients undergoing Fontan completion surgery for CHD between 2000 and 2017 were identified in our institutional records. The inclusion criterion was at least 7 years of follow-up after Fontan completion surgery, while the exclusion criteria were congenital, syndromic, and neuromuscular scoliosis. Radiographic and clinical parameters, including cardio-thoracic ratio (CTR) for cardiomegaly and cyanosis saturation, were compared between with and without scoliosis. Results: There were 23 and 40 patients in the scoliosis and no scoliosis groups, respectively. The mean age at the final follow-up was 18.5 and 16.7 years in the scoliosis and no scoliosis groups, respectively (p=0.02). Mean CTR was 43.7% and 39.4% in the scoliosis and no scoliosis groups (p=0.016), and the mean saturation in room air at the final follow-up was 88.8% and 93.2%, respectively (p=0.036). There were no significant differences to clarify the risk factors with multivariate logistic regression analysis. Conclusions: The prevalence of scoliosis with Fontan completion surgery was 36.5%. Screening for scoliosis is important for children with Fontan circulation surgery as part of their routine follow-up at least until they reach adolescence.Evidence Level: 4.

RASopathies and spinal deformities for screening of scoliosis.

BACKGROUND: The RASopathies (Noonan syndrome [NS] and Costello syndrome [CS]) are rare disorders. Although these have been characterized, precise delineation of the differences in the spinal deformities associated with RASopathy has not been described. This study characterized the spinal deformities found in NS and CS and describes a strategy for the screening of scoliosis. METHODS: The clinical records and spinal X-rays of 35 consecutive NS and CS patients were reviewed. Spinal X-rays were assessed to define the presence and progression of scoliosis. Clinical records were examined to identify the risk factors associated with scoliosis. In addition, we investigated the association between clinical records and scoliosis using logistic regression analysis. RESULTS: Twenty-four patients with NS and 11 with CS were included. Nine patients with NS and five with CS showed scoliosis. The mean ± SD age at diagnosis was 12.6 ± 2.4 years in NS and 11.4 ± 2.5 years in CS (p = 0.55), and mean follow-up period was 4.8 ± 2.6 years and 6.3 ± 2.4 years (p = 0.42), respectively. The coronal angular deformity at final follow-up was 27.3 ± 8.5° in NS and 19.4 ± 6.9° in CS (p = 0.030) with a mean annual progression of 2.8 ± 1.1° in NS 1.0 ± 1.0° in CS (p = 0.030). Cardiac disease was present in eight out of nine patients with NS with concomitant scoliosis in NS, and significantly more than in CS (p = 0.007). PTPN11 significantly correlated with scoliosis (odds ratio 12.4 0.035, 95% confidence interval: 1.20-128.00). CONCLUSIONS: Spinal deformity in NS is more severe than in CS. This study identified a relationship between PTPN11 and scoliosis. Therefore, PTPN11 can be used for the screening of scoliosis.

Costello syndrome-associated orthopaedic manifestations focussed on kyphoscoliosis: a case series describing the natural course.

Costello syndrome (CS) is a rare genetic condition caused by a heterozygous mutation in the HRAS gene, with an estimated prevalence of 1: 300 000. Individuals with CS present with characteristic features including scoliosis, kyphosis, Chiari 1 malformation, and syringomyelia. The natural history of the spinal deformity associated with CS has been incompletely described. This case series describes the spinal deformity associated with CS and sets out a strategy for screening and treatment. The clinical records and spinal radiographs of nine consecutive CS patients encountered at a single centre were reviewed. Radiological assessments for the presence and progression of scoliosis were studied. Nine patients with confirmed CS were followed for a mean of 6.6 years. Five patients showed mild scoliosis. Two patients had lumbar kyphosis in addition to their scoliosis, and one showed scoliosis with proximal thoracic kyphosis. Three patients underwent investigation with MRI, one of which showed Chiari I malformation and a syrinx. One showed no change in the severity of their deformity over time. The remaining four patients showed a rate of increasing coronal deformity of 2.1° per year. There were no cases of rapid progression. All cases showed delayed skeletal maturity. The spinal deformity in CS appears to be slowly progressive. To identify those at risk of more rapid progression, brain and spine MRI should be carried out to exclude structural neurological abnormalities. Long follow-up is required for patients with spinal deformity in CS due to the delay in reaching skeletal maturity. Evidence level: 4.

Peroneal Nerve Palsy Caused by Proximal Fibular Solitary Osteochondroma: Case Report and Literature Review.

Osteochondroma is a relatively common benign tumor of the bone, and compressive neuropathies due to osteochondroma are comparatively rare. Here, we present a rare case of osteochondroma of the fibular head that caused peroneal nerve palsy in an 8-year-old girl. Physical examination revealed 0/5 tibialis anterior, 1/5 extensor hallucis longus, and 1/5 peroneal brevis muscle power-according to the manual muscle testing grading system, as well as numbness on the lateral side of the right leg and the back of the foot. Radiological examination and ultrasound revealed a bone tumor in the head of the right fibula. Magnetic resonance imaging ruled out spinal nerve root compression. It was discovered that the bone tumor in the fibular head had compressed and displaced the common peroneal nerve. The patient underwent surgical decompression of the right peroneal nerve. A bone region measuring 22 × 14 × 8 mm was removed. Three months postoperatively, the preoperative neurological deficits were found to be nearly resolved. The patient presented with a foot drop for 1 year, but symptoms resolved 3 months after surgery. Conventional wisdom states that surgery should be performed within 3 months, but we recommend that surgery be performed as soon as diagnosis is made even in cases with a long history, as it may improve patient symptoms and outcomes.

The Association Between Radiographic and MRI Cervical Spine Parameters in Patients With Down Syndrome.

Introduction Many patients with Down syndrome (DS) develop upper cervical spine instability that may lead to spinal cord injury. The purpose of this study was to investigate the association between the spinal cord compression in MRI and the occipto-cervical instability evident on plain radiographs in a Japanese population. Methods A retrospective analysis of cervical spine radiographs and MRI acquired from patients with DS was performed. Radiographic evaluation included measuring the atlanto-dental interval (ADI) and space available for the cord. The basion axial interval (BAI) and Weisel-Rothman (WR) measurements were taken to quantify occipto-axial (OA) and atlanto-occipital (AO) instability. These parameters were collected in patients both with (positive) and without (negative) spinal cord compression evident on MR imaging in a neutral position and the values were compared. In addition, we investigated the association between spinal cord compression and previously defined abnormal values with logistic regression analysis (abnormal values: ADI>6mm, SAC<14mm, BAI<-12mm or >5mm in neutral position). Results There were 17 patients in the positive group and 52 patients in the negative group. WR was 7.4 mm±6.0 in positive group and 8.6 mm±4.8 in negative group (p=0.31) in neutral position, 3.9 mm±5.4 and 6.3±5.0 (p=0.06) in flexion, and 7.0 mm±6.8 and 7.2 mm±4.8 (p=0.75) in extension, respectively. The difference in WR between flexion and extension was 3.1 mm ± 4.6 and 0.9 mm ± 3.8, respectively (p=0.15). All other parameters showed significant differences between the two groups excluding BAI in extension (p<0.05). In addition, abnormal values that significantly correlated with cord compression were ADI (odds ratio 42.3 p<0.01 95% CI 4.16-430.0) and SAC (odds ratio 31.90 p=0.013 95% CI 2.06-494.0). Conclusions These data suggest that OA and AA instability measured with ADI, SAC, and BAI are significantly associated with spinal cord compression in MRI; whereas instability measured with WR and DWR is not. In addition, the previously defined abnormal thresholds for the ADI and SAC can be used for screening the Japanese population.

Asian population may have a lower incidence of hip osteonecrosis in childhood acute lymphoblastic leukemia.

Osteonecrosis (ON), a long-term complication of acute lymphoblastic leukemia (ALL) treatment affects patients' quality of life. Although the incidence of any ON, including asymptomatic, was 21.7% among children with ALL in the U.S., the actual incidence and risk factors in Asia remain unknown. For over 11 years, we performed hip magnetic resonance imaging (MRI) screening to detect asymptomatic ON while initiating maintenance chemotherapy in newly diagnosed children with ALL. Overall, 164 of 175 patients underwent hip MRI screening. The incidence of symptomatic or any ON was 3.0% and 11.6%, respectively. Asymptomatic ON in patients < 10 and ≥ 10 years old was 4.0% and 35.9%, respectively (P < 0.001). In multivariate analysis, age ≥ 10 years was the only significant risk factor. Asymptomatic ON with necrosis of > 30% of the epiphyseal surface of the femoral head was detected in four patients (2.4%). All were ≥ 10 years. Three of them progressed to severe symptomatic ON. The incidence of any ON in Asia may be lower than that seen in the only screening study in the U.S. Future studies should clarify factors affecting such regional differences and develop an effective approach to avoid the progression of ON in children with ALL.

The Association of Scoliosis and NSD1 Gene Deletion in Sotos Syndrome Patients.

STUDY DESIGN: A retrospective comparative study. OBJECTIVE: The aim of this study was to examine the NSD1 abnormalities in patients diagnosed with Sotos syndrome and its correlation with the presence, severity, and progression of associated scoliosis. SUMMARY OF BACKGROUND DATA: Scoliosis has been reported in approximately 30% of patients diagnosed with Sotos syndrome, a genetic disorder characterized by a distinctive facial appearance, learning disability, and overgrowth. Sotos syndrome is mainly attributed to NSD1 haploinsufficiency, but with ethnical differences in genetic profile: NSD1 microdeletions are frequently identified in Japanese Sotos patients whereas intragenic mutations are more frequently found in non-Japanese patients. Although possible genotype-phenotype correlations have been proposed, the genotype of Sotos syndrome patients suffering from scoliosis has not been examined. METHODS: The medical records and spinal radiographs of 63 consecutive Sotos syndrome patients at a single center were reviewed. Fluorescent in situ hybridization or microarray comparative genomic hybridization and DNA sequencing or multiplex ligation-dependent probe amplification were performed to detect 5q35 microdeletion involving the NSD1 gene and intragenic mutations of the NSD1 gene, respectively. The phenotypes of all cases and radiological assessments for the presence and progression of scoliosis were studied. RESULTS: NSD1 abnormalities were identified in 55 patients (87%): microdeletion in 34 patients (54%) and intragenic mutation in 22 patients (33%). Scoliosis was observed in 26 patients (41%), with a significantly higher ratio of microdeletions than mutations. The 10 patients with progressive scoliosis all had NSD1 microdeletions. CONCLUSION: Scoliosis was a common phenotypical trait in children with Sotos syndrome and its presence as well as progression were higher in cases with NSD1 microdeletions. Although all Sotos syndrome patients should be monitored for scoliosis, clinicians should be made aware that patients with NSD1 microdeletions have a higher probability of scoliosis development and progression that may require early intervention.Level of Evidence: 3.

Endoscopic Surgery under Fluoroscopic Guidance Is Useful for Diagnosing and Treating Epiphyseal Osteomyelitis Caused by Mycobacterium Species.

Osteomyelitis caused by Mycobacterium species may be difficult to diagnose and treat. We report a case of treatment for osteomyelitis caused by Mycobacterium species in the epiphysis of the right proximal tibia. A 28-month-old boy presented to a hospital with symptoms of fever and right knee pain. He had been vaccinated with Mycobacterium bovis Bacille Calmette-Guérin (BCG) at five months of age. The epiphyseal radiolucent lesion had increased in size and extended to the metaphysis through the physis on a plain radiograph of the right proximal tibia. Surgical drainage and curettage of the lesion were performed with an endoscope under C-arm fluoroscopy. The intraoperative histopathological examination revealed granulation tissue composed of caseous necrosis and Langerhans giant cells, revealing Mycobacterium species to be the causative pathogen. Because of suspected osteomyelitis caused by BCG, the antituberculosis drugs were administered orally from an early postoperative stage. A plain radiograph taken eight months postoperatively showed bone regeneration in the area of curettage and a slight physeal bridge, in addition to normalization of the inflammatory response on blood sampling. It was possible to perform accurate diagnosis and rapid treatment for epiphyseal osteomyelitis caused by Mycobacterium species using endoscopic surgery under fluoroscopic guidance.

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.

Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-clubfoot syndrome (ATCS; OMIM#601776) and a new type of Ehlers-Danlos syndrome (EDS) coined as EDS Kosho Type (EDSKT) [Miyake et al., 2010], as well as a subset of kyphoscoliosis type EDS without lysyl hydroxylase deficiency (EDS VIB) coined as musculocontractural EDS (MCEDS) [Malfait et al., 2010]. Lack of detailed clinical information from later childhood to adulthood in ATCS and lack of detailed clinical information from birth to early childhood in EDSKT and MCEDS have made it difficult to determine whether these disorders would be distinct clinical entities or a single clinical entity with variable expressions and with different presentations depending on the patients' ages at diagnosis. We present detailed clinical findings and courses of two additional unrelated patients, aged 2 years and 6 years, with EDSKT with a comprehensive review of 20 reported patients with D4ST1 deficiency, which supports the notion that these disorders constitute a clinically recognizable form of EDS. The disorder, preferably termed D4ST1-deficient EDS, is characterized by progressive multisystem fragility-related manifestations (joint dislocations and deformities, skin hyperextensibility, bruisability, and fragility; recurrent large subcutaneous hematomas, and other cardiac valvular, respiratory, gastrointestinal, and ophthalmological complications) resulting from impaired assembly of collagen fibrils, as well as various malformations (distinct craniofacial features, multiple congenital contractures, and congenital defects in cardiovascular, gastrointestinal, renal, ocular, and central nervous systems) resulting from inborn errors of development.

The minimum influences for murine normal joint tissue by novel bactericidal treatment and photodynamic therapy using na-pheophorbide a for septic arthritis.

OBJECTIVE: In this study, we examined the effect of photodynamic therapy (PDT) using Na-pheophorbide a (Na-Phde a) on normal joint tissue. BACKGROUND DATA: The treatment of methicillin-resistant Staphylococcus aureus (MRSA) infection is a serious issue. Recently, an experimental in vivo and in vitro model for the inactivation of MRSA by PDT using a photosensitizer, Na-Phde a, has been developed. MATERIALS AND METHODS: The knee joints of mice were injected with 560 or 280 micromol/L of Na-Phde a. Thirty minutes after injection, percutaneous laser irradiation was applied for 5 min using a semiconductor laser (power: 125 mW; wavelength: 664 nm; total energy: 12 J/cm2). The joint perimeter and body weight of the treated mice were monitored, and histological evaluation was also done. RESULTS: Joint swelling was observed up to 3 wk after PDT (p < 0.05). On histology 1 wk post-PDT, the treated knees were found to have inflammatory changes, primarily in synovial tissue. Eight weeks after PDT, the synovitis was no longer present. No significant effects were observed on cartilage, bone marrow, or menisci. CONCLUSIONS: The results of this experiment showed that PDT with Na-Phde a induced arthritis for a short time after treatment. However, this arthritis was reversible, and the PDT did not appear to induce osteoarthritic changes in normal joint tissue. These findings indicate that PDT using Na-Phde a caused minimal but reversible changes in joint tissue, suggesting that it would be a safe and useful treatment for bacterial septic arthritis.