Multiple trigger fingers associated with geleophysic dysplasia

We report an infant with geleophysic dysplasia (MIM 231050) who developed multiple trigger fingers. The condition was progressive and distinct from trigger thumb, which is generally seen in infants without any underlying metabolic disease.     

Perthes-like disease in Alagille syndrome

We describe a unique case of a bilateral osteochondrosis of the femoral heads, similar to Perthes disease, in a boy affected by Alagille syndrome. This is a rare genetic syndrome, caused by vascular anomalies, and characterized by five main features: hepatic, cardiovascular, ophthalmological, skeletal malformations, and characteristic facial appearance. The most frequent skeletal finding is the 'butterfly vertebra'. We have followed the patient from the age of 5 years to the age of 20 years. We performed two bilateral valgus osteotomies when he was 10 years old to limit the progression of the deformity. We believe that the association of a bilateral osteochondrosis of the femoral heads with Alagille syndrome, a disease characterized by a vascular etiology, supports the hypothesis of angiogenic pathogenesis of Perthes disease.     

Intraarticular Abnormalities in Residual Perthes and Perthes-like Hip Deformities

Background  

Residual Perthes and Perthes-like hip deformities are complex and may encompass proximal femoral deformity, secondary acetabular dysplasia, and associated intraarticular abnormalities. These intraarticular abnormalities have not been well characterized but may influence surgical technique and treatment outcomes.     

Periacetabular osteotomy for the treatment of dysplastic hip with Perthes-like deformities

We retrospectively evaluated 17 hips in 16 patients who underwent a periacetabular osteotomy for the treatment of dysplastic hip with Perthes-like deformities. These residual deformities were graded using the Stulberg classification system. There were three class II hips, 11 class III hips and three class IV hips preoperatively. The average age of the patients at surgery was 36.9 years and the average follow-up was 6.6 years. The average Harris hip score significantly improved from the preoperative value of 68.2 points to 91.1 points postoperatively. The average postoperative range of motion in all directions did not change significantly from the preoperative value. The average postoperative Harris hip score of class IV hips was smaller than that of the class II or class III hips. The standard radiographic evaluations also showed significant improvements postoperatively. Periacetabular osteotomy without combined femoral osteotomies, as a treatment for patients with Perthes-like deformities, produced good clinical and radiographic results.     

Perthes-like disease and the tricho-rhino-phalangeal syndromes: the first black patient

The TRPS I has been reported in European, Asian, Australian, and North American populations. To the best of our knowledge, this is the first case reported in the black population. Like many patients with this syndrome, it was the presence of "Perthes-like" disease that eventually lead to the diagnosis. This hip complication is very common, and often bilateral. A review of the literature stresses the importance of early diagnosis in that many patients are presenting late with severe degenerative arthritis. When present, "Perthes-like" changes should direct the observer to look for the abnormal hair and facies that are typical of these syndromes. Radiographs of the hands should also be obtained which will usually reveal the characteristic cone-shaped epiphyses. Clinical or radiographic evidence of multiple cartilaginous exostoses is diagnostic of TRPS II in the presence of other stigmata of the tricho-rhino-phalangeal syndrome (TRPS I).     

Relative neck lengthening and intracapital osteotomy for severe Perthes and Perthes-like deformities

Intra-articular and extra-articular femoral Perthes deformities, or either, can result in severe alterations of the proximal femur and secondarily even involve the acetabulum, which can lead to premature osteoarthritis (OA) of the hip. In affected hips, joint damage due to impingement and instability may coexist. Classically, extra-articular impingement and associated abductor insufficiency in Perthes disease or similar pathologies are treated by trochanteric advancement. However, this leaves intra-articular impingement and instability unaddressed. The technique of surgical dislocation of the hip, in combination with a retinacular fap, allows for the relative lengthening of the femoral neck and even femoral head reduction osteotomy in such cases. This can be combined with an acetabular procedure to treat the secondary dysplasia. Since 2001, 14 patients with a minimum follow-up of 3 years have been treated by this technique without complications, such as femoral head osteonecrosis or trochanteric failures. All patients had markedly improved pain levels, hip mobility, and gait.     

成人髋关节发育不良全髋关节置换术后外展肌功能的变化

目的评估成人髋关节发育不良全髋关节置换术（THA）术后外展肌的变化,为术后康复训练提供一定的理论依据。方法 THA治疗成人单侧髋关节发育不良19例,分别在术前、术后2周、1、3、6、12个月进行髋关节Harris评分和Trendelenburg试验;并测定术后患侧与健侧髋关节外展最长持续时间。结果双下肢短缩差异值由术前平均29.2mm（范围15.9-45.0mm）缩小至术后平均2.5mm（范围-6.7-8.8mm）,术后Harris评分、患侧与健侧髋关节外展最长持续时间数据比与术后时间呈正相关,且以1-6个月之内变化最为明显,6-12个月变化趋势变缓;术后3个月Trendelenburg试验阳性6例,术后12个月随访Trendelenburg试验阳性4例。结论成人髋关节发育不良患者外展肌功能在THA术后1～6个月之间恢复最快,6～12个月恢复趋势变缓。     

Pelvic dysplasia associated with arthrogrypotic changes in the lower extremities. A new syndrome

Two sisters exhibit arthrogrypotic changes in the lower extremities associated with a previously undescribed pelvic dysplasia. The pelvic dysplasia is characterized by: severe abnormalities of ossification with markedly widened triradiate cartilages; irregular, notched acetabulae; marked hypoplasia of the ilia; notching of the iliac wings; and delayed ossification of the capital femoral ossific nucleus. The elder girl has bilateral clubfeet, as well as flexion contractures of both knees. The younger girl has a right talipes equinovarus and left hip dislocation. Autosomal recessive inheritance is suggested. This distinctive syndrome should be considered in the differential diagnosis of the patient with arthrogryposis.     

Intermittent radiographic changes of rickets without defective trabecular bone mineralization in a case of spondylometaphyseal dysplasia

Although a variety of metaphyseal and spondylometaphyseal dysplasias have been identified, the natural course of the skeletal defects in these disorders has not been well characterized. We describe an 8-year-old girl with spondylometaphyseal dysplasia, most closely resembling the Kozlowski type, in whom rachitic metaphyseal involvement underwent dramatic radiographic healing when she wore leg braces; discontinuation of the braces was followed by recurrence of the growth plate abnormalities. A generalized disturbance in mineral metabolism or skeletal remodeling to explain these radiographic changes was excluded by extensive biochemical studies and histologic examination of an undecalcified iliac crest specimen. Our observations suggest that the defect in endochondral bone formation in the spondylometaphyseal dysplasias may be responsive to mechanical factors and that interventions that alter stress and strain on the skeleton, such as immobilization or use of orthopedic braces, may considerably modify the radiographic appearance of the growth plate disturbance.     

Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions

Summary To determine the prevalence, distribution, age-related changes and treatment of pain in fibrous dysplasia, we studied 78 children and adults. Pain was common, more prevalent and intense in adults, sometimes requiring narcotic analgesia. It was often untreated, especially in children, and surprisingly severity did not correlate with skeletal disease burden. Introduction Pain is common in fibrous dysplasia (FD), but relatively unstudied. We studied a well-characterized population of patients with a spectrum of disease. Methods Thirty-five children (16 male, 19 female, mean age 11.4 (range 5–18)) and 43 adults (15 male, 28 female, 23–62 yrs, mean age 40.3 (range 23–62)) were studied. Bone scans were used to identify the location and extent of disease. The Brief Pain Inventory was used to determine severity. Results Pain at sites of FD was common, reported by 67% of the population, but more prevalent and severe in the adult group than the children (81% and 49%, respectively p < 0.005, severity 4.1/10, and 2.8/10, respectively, p < 0.01). Surprisingly, there was no correlation between pain severity and skeletal disease burden. Children were more likely than adults to be untreated for pain (44% vs. 26%). Conclusions Pain, which was sometimes severe, was common in subjects with FD. It was often un- or under-treated, especially in children. The prevalence and severity of pain was greater in the adult group, but unrelated to the burden of FD. Disclosures: none     

Inflammatory changes secondary to postoperative complications of Hirschsprung's disease as a cause of histopathologic changes typical of intestinal neuronal dysplasia

Purpose

The aim of this study was to clarify the pathogenesis of intestinal neuronal dysplasia (IND).

Methods

The bowel habits of 36 postoperative HD patients were assessed retrospectively. Twenty-five had no complaints. Seven had persistent enterocolitis and were the focus of our study. They were divided into group A (n = 2) if they were severe and had associated postoperative surgical complications, and group B (n = 5) if they were mild. The histological changes were assessed.

Results

The 7 patients who had persistent enterocolitis postoperatively had no AchE activity in the mucosa, and there was normal distribution of submucosal and myenteric ganglia in the proximal resection margin. Rectal biopsies performed postoperatively for investigation of persistent enterocolitis in group A showed inflammatory changes and typical histopathologic features of IND such as abundant acetylcholinesterase (AchE)-positive nerve fibers in the lamina propria associated with giant submucosal ganglia and hyperganglionosis, and in group B there was increased AchE activity without hyperganglionosis or giant ganglia.

Conclusions

This is the first report of histopathologic changes typical of IND occurring in response to persistent enterocolitis related to postoperative complications of surgery for HD.     

Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: core biopsy studies and clinical correlations.

Deposition, mineralization, and resorption of FD bone compared with unaffected bone from FD patients was investigated in iliac crest biopsy specimens from 13 patients. Compared with unaffected bone, lesional FD bone seemed to be very sensitive to the effects of PTH and renal phosphate wasting, which respectively bring about hyperparathyroid or osteomalacic changes in the lesional bone. INTRODUCTION: Fibrous dysplasia is a genetic noninherited disease caused by activating mutations of the GNAS1 gene, resulting in the deposition of qualitatively abnormal bone and marrow. This study was designed to learn more about the local processes of bone deposition, mineralization, and resorption within lesional fibrous dysplasia (FD) bone compared with unaffected bone of FD patients. METHODS: Histology, histomorphometry, and quantitative back-scattered electron imaging (qBSE) analysis was conducted on affected and unaffected biopsy specimens from 13 patients and correlated to markers of bone metabolism. RESULTS AND CONCLUSIONS: There was a marked excess of unmineralized osteoid with a nonlamellar structure and a reduced mineral content in mineralized bone within FD lesions (p < 0.001). A negative correlation (p = 0.05) between osteoid thickness (O.Th) and renal tubular phosphate reabsorption (measured as TmP/GFR) was observed for lesional bone, but not for unaffected bone, in which no histological or histomorphometric evidence of osteomalacia was observed in patients with renal phosphate wasting. Histological and histomorphometric evidence of increased bone resorption was variable in lesional bone and correlated with serum levels of parathyroid hormone (PTH). Hyperparathyroidism-related histological changes were observed in fibrous dysplastic bone, but not in the unaffected bone, of patients with elevated serum PTH secondary to vitamin D deficiency. Our data indicate that, compared with unaffected bone, lesional FD bone is very sensitive to the effects of PTH and renal phosphate wasting, which, respectively, bring about hyperparathyroid or osteomalacic changes in the lesional bone. Osteomalacic and hyperparathyroid changes, which emanate from distinct metabolic derangements (which superimpose on the local effects of GNAS1 mutations in bone), influence, in turn, the severity and type of skeletal morbidity in FD.     

Renal-pancreatic-hepatic dysplasia in siblings

Fewer than 20 children with complete renal-pancreatic-hepatic dysplasia have been reported since first described in 1959. We report two brothers with renal-pancreatic-hepatic dysplasia, one of whom had hypertrophic cardiomyopathy and pancreatic exocrine insufficiency, previously unreported associated findings.     

儿童Pemberton手术前后髋臼容积变化的分析

[目的] 探讨Pemberton截骨手术前后髋臼容积的变化.[方法] 2006年1月～2007年2月连续采集同一名医生施行pemberton手术前、手术后的DDH病例11例,以同样条件进行髋关节CT扫描,测量一系列髋臼横断面的截面积,计算髋臼的容积.[结果]手术前后手术髋的容积比较,发现髋臼容积有统计学差异,表明手术改变了髋臼的容积,而且髋臼有增大.[结论] 通过CT测量与数学计算两者的结合,发现Penlberton髋臼成形术并不减少髋臼的容积,反而有增大.