Surgery in Legg-Calve-Perthes disease

A 10-year period of surgical management of Legg-Calve-Pethes disease (LCP) is reviewed. A total of 40 hips were operated on in 36 of 213 patients with LCP using four different techniques: femoral varus osteotomy, Salter's innominate osteotomy, Le Coeur's triple osteotomy, and Chiari's pelvic osteotomy. The choice of each technique was based on the clinical and roentgenographic anomalies present in each case. The benefits and disadvantages of these techniques in LCP are discussed. Overall results were judged as good in 65% of cases, fair in 23%, and poor in 12%. Offprint requests to: H. Bensahel at the above address     

Sagittal diameter measurements of the bony cervical spinal canal in children

Radiological measurements of the sagittal diameter of the bony cervical spinal canal were performed on 120 children, aged 3 to 14 years old. For the age groups 3 to 6, 7 to 10 and 11 to 14 years the appropriate mean values were calculated with standard deviations. In addition the relation between body height and width of the spinal canal was investigated. The values show a continuous increase with advancing years and increasing body height. In all age groups the sagittal diameter decreases slightly from the foramen magnum to C.3 and then remains nearly constant. There are no statistically significant differences between boys and girls. The normal values obtained facilitate the detection of pathological cases where there may be widening or narrowing of the cervical spinal canal.Editorial Comment     

Pre-operative respiratory assessment for children with spinal deformity

Pre-operative respiratory assessment of children with spinal deformity requires an understanding of the deformity, the proposed surgery and most importantly the children themselves. The assessment and the tailoring of investigations will differ according to the age, developmental level and co-morbidities of the child.This review uses a mixture of evidence and case-based practice in order to set out a suggested framework for pre-operative spinal assessment, and suggested recommendations that may be provided to best support children undergoing surgery for spinal deformity.     

Intracranial Hodgkin's disease in two patients with familial Hodgkin's disease

Intracranial Hodgkin's disease is very rare and is often a terminal event. The case of a 33-year-old man who relapsed in the anterior pituitary gland without other evidence of disease 6 months after extended field radiation therapy for Stage IIA Hodgkin's disease is presented. He remains well with no evidence of disease five years after surgery and chemotherapy for intracranial relapse. The case of a 16-year-old boy with a dural relapse of Hodgkin's disease associated with positive cerebrospinal fluid cytology is also presented. These two patients are members of different families each with multiple cases of Hodgkin's disease. Central nervous system involvement with Hodgkin's disease may be more frequent in familial Hodgkin's disease in which immune deficiency is common. Med. Pediatr. Oncol. 28:255–258. © 1997 Wiley-Liss, Inc.     

SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy

Background: The SMN1 gene is now recognized as a spinal muscular atrophy (SMA)-causing gene, while SMN2 and NAIP have been characterized as a modifying factor of the clinical severity of SMA. Gene dosage of SMN2 is associated with clinical severity of SMA. But the relationship between gene dosage of NAIP and clinical severity of SMA remains to be clarified, although complete deletion of NAIP is frequent in type I patients.
Methods: To evaluate the contribution of the SMN2 and NAIP gene dosages to SMA, quantitative real-time polymerase chain reaction was used to measure copy numbers of SMN2 and NAIP in 34 Vietnamese SMA patients lacking SMN1 (13 type I, 11 type II and 10 type III patients).
Results: The SMN2 copy number in type I patients was significantly lower than that in type II–III patients, which was compatible with the previous reports. In contrast, 25 out of 34 patients had only zero or one copy of NAIP , while 50 out of 52 controls had two or more copies. For NAIP (+) genotype, six out of 13 type I patients, eight out of 11 type II patients and six out of 10 type III patients carried one NAIP copy.
Conclusions: The SMN2 copy number was related to the clinical severity of SMA among Vietnamese patients. The presence of one NAIP copy, that is, heterozygous NAIP deletion, was common in Vietnamese SMA, regardless of clinical phenotype.     

Single-staged anterior and posterior spinal fusion: A safe and effective alternative for severe and rigid adolescent idiopathic scoliosis in China

Aim:   Delayed treatment of adolescent idiopathic scoliosis (AIS) is common in Mainland China because of the lack of public education about health care resulting in the reluctance to undergo surgery. This leads to a high incidence of complex cases where surgeons may not be trained in advanced procedures. We report the efficacy of single-staged anterior and posterior spinal fusion for correction of severe AIS in China.
Methods:   A retrospective review was performed of 31 consecutive cases in which patients were treated at the Orthopaedic Department of Changhai Hospital in Shanghai between 2001 and 2004 with a combined anterior and posterior spinal fusion with screws, hooks, sublaminar wires or cables.
Results:   Thirty-one patients with AIS with Lenke type 1, 2, 3 and 4 curves were included for analysis. At least one of the curves was ≥90° in each patient. The mean coronal and sagittal Cobb angles of the main thoracic curve were 98° and 22° before surgery, 50.5° and 21° after surgery, and 53.7° and 24° at follow-up, respectively. No neurological deficits or deaths occurred. Solid arthrodesis with coronal and sagittal balance was achieved in all patients.
Conclusions:   A single-stage anterior release and fusion and posterior fusion for treatment of severe AIS is good alternative to pedicle screws/vertebrectomy on the basis of risk–benefit balance, and can be performed by surgeons not experienced in more complex procedures. The risk of pulmonary complications may be preferable to the risk of severe neurological complications when thoracic pedicle screws are applied, especially when surgeons are not adequately trained in their use.     

Leukocyte counts in patients with Kawasaki disease: from the results of nationwide surveys of Kawasaki disease in Japan

In the latest survey of Kawasaki disease in Japan, questionnaires on maximal leukocyte counts of the patients were included to clarify whether leukocyte counts could be of value for the diagnosis and prediction of outcome. A questionnaire form and diagnostic guidelines for Kawasaki disease were sent to all pediatric departments of hospitals with ≥100 beds throughout Japan, and information including maximal leukocyte counts was obtained on patients with Kawasaki disease diagnosed during the 2-y period from January 1993 to December 1994. Of the 11 458 patients diagnosed during the 2-y period, maximal leukocyte counts were reported in 11 062 patients (96.5%). The mean value and the distribution of maximal leukocyte counts were lower in the age group under 1 y. The mean values and the distribution of leukocyte counts were lowest in suspected cases among three diagnostic categories: typical cases of Kawasaki disease, atypical cases, and suspected cases. The mean values of maximal leukocyte counts of the patients with cardiac sequelae were significantly higher than those without cardiac sequelae in each age group. The proportion of patients with cardiac sequelae increased with leukocyte counts in each age group. The Receiver/Response Operating Characteristic (ROC) curve for maximal leukocyte counts in Kawasaki disease revealed that the accuracy of maximal leukocyte counts for prediction of cardiac sequelae was highest in the age group <6 months, and the most accurate cut-off point was 16 × 10⁹/l. The strongest association between higher leukocyte counts (≥16 × 10⁹/l) and cardiac sequelae was observed in the age group <6M. A large-scale analysis of leukocyte counts in patients with Kawasaki disease revealed age-dependent relationship between maximal leukocyte counts, diagnostic categories and outcome. Maximal leukocyte counts may be helpful for the prediction of outcome with the consideration of age.     

先天性巨结肠RET基因突变及相关疾病分析

先天性巨结肠（Hirschsprung‘s disease,HD)是常见的先天性消化道畸形。其病因尚未明了,最近研究表明原癌基因RET的突变在HD发病中起主要作用。方法：采集30例散发性先天性巨结肠和30例正常儿童的全血标本,提取基因组;采用聚合酶链反应（PCR）和单链构象多态（SSCP）技术分析RET基因的第6、10、16外显子。结果：2例患儿存在第10外显子的突变。其中1例家庭中有MEN2A患者;1例患儿存在第16外显子的突变。结论：RET基因突变可能是导致先天性巨结肠发生的重要原因之一。MEN2A和先天性巨结肠的发生可能有一定联系。     

Bowel function after surgery for anorectal malformations in patients with tethered spinal cord

Tethered spinal cord (TC) is an anomaly frequently recognized in association with anorectal malformations (ARM). However, the influence of TC on bowel function in children with ARM remains unknown. Furthermore, there are few studies that have assessed anorectal function in children with ARM and TC. The aim of this study was to evaluate anorectal function in ARM patients with TC using clinical assessment and anorectal manometry. Among 258 patients with ARM, this retrospective investigation included 35 patients who underwent spinal magnetic resonance imaging (MRI) after surgery for ARM. The patients were divided into two groups based on the presence or absence of TC, and bowel function was assessed by Kelly’s clinical score and anorectal manometry. Tethered cord was found in nine of the 35 patients (26%) with ARM. Of the ARM patients, TC was noted in four of 11 (36%) with high type anomalies, one of 8 (13%) with intermediate type anomalies, two of 14 (14%) with low type anomalies, and two of two patients (100%) with cloacal anomalies. Kelly’s clinical score did not significantly differ between the two groups. However, two of the nine patients with TC had poor bowel function (Kelly’s score; 2–0 points). On the contrary, patients without TC did not have poor bowel function. Anorectal manometry did not show a significant difference between patients with and without TC. However, the two patients with TC who had poor bowel function by Kelly’s score had low anal resting pressure, which was essential for achieving fecal continence. In conclusion, the present study showed that tethered cord was more frequently found in patients with more severe anorectal anomalies. Patients with TC were more likely to have poor bowel function, but this did not reach statistical significance. Presented at the 14th International Paediatric Colorectal Club, York, UK, 14–16 July 2007.     

Atlanto-axial dislocation with spinal cord compression in Down syndrome

ABSTRACT. An 8-year-old female with Down syndrome presented with progressive spastic quadriparesis. Compression of the upper cervical spinal cord was due to atlanto-axial dislocation and she died despite operative intervention. Details of clinical, radiological and pathological features are presented.     

Pyuria in patients with Kawasaki disease

Kawasaki disease(KD) is an acute, febrile vasculitis that predominantly develops in children ≤ 5 years of age and can lead to multiple organ injuries including the kidneys. Of these injuries, pyuria is a common feature of patients with KD, occurring in 30%-80% of patients. Sterile pyuria is most common in KD patients ≤ 1 year of age. KD patients with sterile pyuria exhibit more severe inflammatory reactions and may have subclinical renal injuries. Sterile pyuria in KD is associated with mononuclear cells(not neutrophils) in the urine. Although sterile pyuria in KD was at one time thought to be due to urethritis caused by a non-specific vasculitis of the urethra, recent studies suggest that sterile pyuria in KD originates from the urethra, the kidney as a resultof mild and sub-clinical renal injuries, and/or the bladder due to cystitis. Pyuria is not always sterile in KD, but can result from a urinary tract infection(UTI). As causative pathogens, Escherichia coli and Klebsiella oxytoca have been reported. The clinical phenotypes do not differ between those with or without UTI. Because some KD patients with UTIs have urinary tract abnormalities such as vesicoureteral reflux, a complete UTI workup including renal ultrasound, voiding cystourethrogram and/or dimercaptosuccinic acid renal scan recommended in KD patients with UTIs.     

Orocaecal transit time in patients with Crohn disease

Orocaecal transit time (OCTT) using the lactulose hydrogen breath test was investigated in 16 patients (age 10–19.4 years) with active Crohn disease (CD). Disease activity was assessed by the paediatric CD activity index (PCDAI). OCTT was prolonged in all patients (mean 149.9 min, SD 32.7) relative to healthy age-matched controls (mean 56.9 min, SD 11.1). PCDAI was increased (median 48.8, range 32.5), indicating moderate to severe disease in all patients. A close correlation between OCTT and PCDAI (Spearmanr=0.90) was observed. Following nutritional therapy with a semi-elemental diet over a period of 6 weeks OCTT and PCDAI declined, OCTT becoming normal in 4 and PCDAI in 4/12 patients respectively. OCTT provides a sensitive, noninvasive method for the assessment and followup investigations in patients with CD.     

Osteonecrosis in patients with Hodgkin disease following combination chemotherapy

Three cases of osteonecrosis in patients receiving prednisone as part of multidrug chemotherapy for lymphoma are presented. These patients are discussed in the context of previously reported series. The etiology of steroid-induced osteonecrosis and its radiologic manifestations are reviewed with regard to the need for biopsy to confirm the diagnosis. In light of this complication, the need for prednisone in lymphoma chemotherapy is considered.     

Two Hereditary Spinal Diseases Producing Kyphosis during Adolescence

ABSTRACT. Familial accumulation of spinal osteochondrosis (Scheuermann's disease) and hereditary juvenile anterior fusion of the vertebral bodies in the thoraco-lumbal area are reported for the first time in the same family. Radiological examination of the spine in 2 planes of 73 persons formed the basis for the study. Nine cases of spinal osteochondrosis and 5 cases of hereditary juvenile anterior fusion were found. Proliferation and increased height of the anterior surface of the body of the vertebrae and pronounced reduction in the anterior aspect of the intervertebral spaces were characteristic during the early stages of the latter condition, similarly fewer back symptoms and a better prognosis were observed in these patients than was the case of patients with Scheuermann's disease.     

脊髓性肌萎缩症患儿营养管理研究进展

脊髓性肌萎缩症(SMA)是一种严重的神经肌肉疾病,因运动神经元存活基因1(SMN 1)缺陷引起.由于肌肉无力、活动量少、消化道症状以及吞咽困难等原因,患儿发生营养不足和营养过剩的概率常明显高于正常儿童,因此SMA的营养管理至关重要.文章就SMA患儿的营养评估、可能出现的营养问题以及相关营养干预策略进行阐述.     

精准医学时代中国脊髓性肌萎缩症诊治发展之路

脊髓性肌萎缩症(SMA)是一种常染色体隐性遗传神经肌肉疾病,因运动神经元存活基因(SMN)1缺失/变异导致SMN蛋白缺乏致病,临床表现为进行性肌萎缩与肌无力,并常伴呼吸、消化、营养、骨骼等多系统器官损害,属严重致死致残性遗传病,2018年被纳入国家《第一批罕见病目录》.近年来随着精准医学的发展,SMA的药物治疗获得前所...