挛缩性蜘蛛指(趾)综合征一家系临床及FBN2基因变异分析

目的分析挛缩性蜘蛛指(趾)综合征的临床特征及基因突变特点。方法回顾分析挛缩性蜘蛛指(趾)综合征一家系的临床特点及基因检测结果。结果先证者女,3岁10个月,出生时有蜘蛛样指、双侧肘关节不能活动;父亲、爷爷、曾祖母有同样的表型。先证者及家系中未观察到神经、心血管异常,外耳畸形、听力减退或眼睛异常等。不同性别间的表型及家族成员的表型无显著异质性。提取患儿及其父母、祖父母等外周血DNA行高通量测序,并以Sanger测序进行验证。结果显示先证者FBN2基因错义杂合变异c.244GA(p.Val82Met),先证者父亲、爷爷、曾祖母携带该变异位点。经Alamut功能软件预测,该变异位点可能会影响蛋白结构域功能,按照ACMG变异分类标准,归类为"可能致病性变异"。结论确诊这一挛缩性蜘蛛指(趾)综合征家系的致病基因为FBN2。     

The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate

A new case of congenital contracture arachnodactyly (CCA) revealed in the neonatal period is reported. CCA is a dominantly inherited syndrome associating arachnodactyly, kyphoscoliosis, multiple congenital joint contractures and crumpled ears. This condition differs from Marfan's syndrome by the usual absence of visceral involvement, although cardiac complications are possible. The neonatal forms result from new mutations are are generally severe.     

Increased urinary excretion of pyridinoline and deoxypyridinoline in a girl with congenital contractural arachnodactyly

Congenital contractural arachnodactyly (CCA) is caused by mutations in the gene for fibrillin 2 glycoprotein, a component of connective tissue. The causes of osteodystrophy or osteodysplasia in CCA are unknown. We report bone metabolism in a 28 month-old girl with CCA. Serum alkaline phosphatase and osteocalcin levels were 650 IU/l and 22 ng/ml at 1.5 months old (control: 530+/-65, 16.5+/-4.3), and 580 IU/l and 21 ng/ml at 28 months old (control: 465+/-58, 15.0+/-3.5), i.e. in upper-normal levels. The urinary pyridinoline and deoxypyridinoline levels were 1176 and 194 micromol/mol creatinine at 1.5 months old (control: 329+/-76, 63+/-12), and 407 and 111 micromol/mol cr at 28 months old (control: 231+/-49, 50+/-11), apparently higher than the control values. These findings may indicate that abnormal fibrillin may impair bone metabolism and cause the osteodystrophy or osteodysplasia in CCA.     

Late-presenting congenital diaphragmatic hernia in children: a clinical spectrum

Articles dealing with late-presenting congenital diaphragmatic hernia (CDH) in children published until 2003 were collectively reviewed. The main purpose of the presented study was to gain insight into the clinical spectrum of this variant of CDH and to discuss its clinical and surgical aspects. In 125 articles, 362 patients were reported. Left posterolateral hernia was the dominant anatomical type, found in 79.4% of the children. Male-to-female distribution was nearly 2:1 in both right- and left-sided CDH. Associated anomalies were noted in 8.6% of children. Sixty-five percent of children with right CDH presented within the 1st year of life, whereas only 41.7% of patients with left CDH belonged to this age group. The children with right CDH presented with chronic symptoms in 57.4% of cases, while among those with left CDH, acute presentation prevailed, constituting 60.5% of this group. No strict correlation between age and clinical symptoms was noted, although the youngest patients tended to present with respiratory symptoms. Late-presenting diaphragmatic hernia is associated with a wide range of clinical symptoms occurring in various constellations. Dyspnea and vomiting were the most frequent symptoms found in patients with either chronic or acute manifestation. Preoperative mortality was 3.9% (14 children). In 45 children (12.4%), complications resulting from diaphragmatic hernia were noted, and in a further 11 children iatrogenic preoperative complications were noted. Among 152 children with reported CDH, true hernia with sac was found in 32.7%. Eight children (2.2%) died in the early postoperative period, while a further 13 patients (3.6%) had postoperative complications requiring surgical management. Recurrence of hernia was noted in seven children (1.9%). This collective review of basic epidemiological and clinical data from a large group of patients seems to support a hypothesis for a congenital nature of the diaphragmatic defect and an acquired nature of herniation of the viscera. The wide clinical spectrum of late-presenting CDH seems to be conditioned by two factors: timing of herniation and type of intraabdominal viscera displaced into the chest.     

The clinical spectrum of duodenal polyps in pediatrics

OBJECTIVES: The aim of this retrospective study was to determine the prevalence, clinical presentation, and histologic subclassification of duodenal polyps identified on endoscopy (EGD) in pediatric patients. METHODS: We performed an 18-year retrospective study of all pediatric patients (< 21 years) with duodenal polyps diagnosed between 1983 and 2001 at The Johns Hopkins Children's Center. Our analysis includes a formal histologic evaluation of duodenal polyps either biopsied using cold-forceps or removed by snare cautery. RESULTS: Duodenal polyps were reported in 22 of 5766 EGDs (0.4%) performed in 16 (M:F; 1:1) patients with a mean (SD) age of 14.1 (5.1) years. Polyps were equal in both the Caucasian and African American population (adjusted ratio 1.2:1). The histologic subtypes included Adenomatous (42%), Brunner's gland hyperplastic (33%), hamartomatous (17%), and heterotopic gastric gland polyps (8%). The most frequent indication for EGD was surveillance in patients with polyposis syndromes; most of these patients were asymptomatic at the time of their EGD. In comparison, the most frequent indication for an EGD in patients without polyposis syndromes was abdominal pain and vomiting. CONCLUSIONS: Duodenal polyps are most frequently encountered in children with polyposis syndromes, most of whom are asymptomatic. In nonsyndromic patients, the most common histologic subtype is Brunner's gland hyperplastic polyp and presenting symptoms include abdominal pain and vomiting.     

Diagnostic spectrum of congenital hypothyroidism in Turkish children

Background:  Congenital hypothyroidism (CH) is classified as transient or permanent. Transient CH can be treated with short-term thyroxine replacement therapy or followed up without therapy, whereas lifelong thyroxine replacement is needed in permanent CH. Determination of the underlying etiology is essential for determination of follow-up strategy. The purpose of the present study was therefore to assess the role of color Doppler ultrasonography (CDU) in etiologic diagnosis of CH together with radionuclide method and grayscale ultrasonography (GSU).
Methods:  A total of 182 patients (83 female, 99 male) were evaluated. To determine etiologic diagnosis, the patients underwent a free T4 (fT4), thyroid-stimulating hormone (TSH) and urinary iodine level measurement, and thyroid scintigraphy, perchlorate discharge test, CDU, and GSU.
Results:  Fifty-four patients had transient and 97 had permanent CH. Isolated hyperthyrotropinemia was diagnosed in 31 patients. Transient CH was due to iodine deficiency in 22 and excess iodine in 13 patients. In 97 patients with permanent CH, ectopia was present in 32 patients and agenesis of the thyroid gland was found in 22 patients, while 43 were diagnosed with dyshormonogenesis. In the ectopia group, GSU failed to detect ectopic tissues in all cases, whereas CDU was successful in determining the presence of ectopic thyroid in 20 cases. The sensitivity of CDU was 80% in determining ectopic tissue.
Conclusion:  To determine etiologic diagnosis, radionuclide methods and sonographic modalities should be assessed together. The gold standard in the diagnosis of ectopic thyroid tissue is thyroid scintigraphy. CDU may be a major supportive diagnostic tool in the evaluation of ectopic thyroid gland.     

The puzzling clinical spectrum and course of juvenile sarcoidosis

Background  

Juvenile sarcoidosis is a rare, chronic, multisystem, granulomatous disease of obscure etiology which is seen in childhood and adulthood. The disease in childhood has a course different from that in adulthood.     

Incidence and spectrum of congenital heart disease in Oman

We analysed the incidence and spectrum of congenital heart disease (CHD) in the Sultanate of Oman from 1994 to 1996. CHD was detected in 992 of 139,707 live births (incidence 7.1/1000 live births). The common CHDs were ventricular septal defect (24.9%), atrial septal defect (14.4%) and patent ductus arteriosus (10.3%). The frequency of atrioventricular septal defects (5.9%) was higher than reported from other countries. Age at diagnosis was under 1 month in 38% and 1-12 months in 40%. Cyanotic CHD was found in 21.7% of the whole group and 35% of neonates. Although this was a hospital-based study, we believe we included almost all the infants and children with CHD in the country. The incidence and pattern of CHD in Oman were similar to those reported from developed countries in Europe and America, except for a higher frequency of atrioventricular septal defects. The high prevalence of consanguinity in the country did not affect the overall incidence of CHD.