Marfan's syndrome and the heart

In recent years, there have been many advances in the treatment of cardiac disease in children with Marfan's syndrome. Early diagnosis, meticulous echocardiographic follow-up and multidisciplinary assessment are essential. Medical treatment with beta-blockers is probably helpful in most children with aortic root dilatation. Research on TGFbeta signalling and the potential treatment role of TGFbeta antagonists may lead to exciting new treatments, but the results of clinical trials are awaited. In managing the cardiovascular complications of Marfan's syndrome, the paediatrician has to walk a difficult path. On the one hand, restrictive lifestyle advice and drugs may need to be prescribed, often in the context of a family history of major surgery or even sudden death. On the other hand, it is essential to encourage the often asymptomatic child to develop and mature as normally as possible.     

Evolving phenotype of Marfan's syndrome

AIM: To examine evolution of the physical characteristics of Marfan's syndrome throughout childhood. METHODS: 40 children were ascertained during the development of a regional register for Marfan's syndrome. Evolution of the clinical characteristics was determined by repeat evaluation of 10 patients with sporadic Marfan's syndrome and 30 with a family history of the condition. DNA marker studies were used to facilitate diagnosis in those with the familial condition. RESULTS: Musculoskeletal features predominated and evolved throughout childhood. Gene tracking enabled early diagnosis in children with familial Marfan's syndrome. CONCLUSIONS: These observations may aid the clinical diagnosis of Marfan's syndrome in childhood, especially in those with the sporadic condition. Gene tracking has a role in the early diagnosis of familial Marfan's syndrome, allowing appropriate follow up and preventive care.     

Marfan''s综合征合并小儿脊柱侧凸的外科治疗探讨

目的：探讨Marfan‘s综合征合并小儿脊柱畸形的发病机制及治疗原则。方法：30例Marfan‘s综合征合并脊柱畸形的患儿在我院得到矫治及随访。13例采用单纯后路矫形融合，17例采用前路松解加后路矫形。其中20例曾采用支具等保守疗法。通过对手术前后的顶椎偏移（AVT），顶椎旋转度（AVR），Cobb‘s角，躯干移位程度（TS）及身高的变化比较，分析总结治疗效果并探讨治疗原则。结果：单纯后路矫形术后并发症较多，前后路较大范围的融合疗效较佳。结论：Marfan‘s综合征合并小儿脊柱畸形应早期治疗，前后路融合可获得较好的治疗效果。     

Adrenocortical function in children with connective tissue syndromes and funnel chest deformation

Measurement of the content of C-21-corticosteroids in the diurnal urine by thin-layer chromatography has demonstrated that in children with isolated and syndromal forms of funnel-like chest deformation, grades II and III, adrenocortical function is decreased. In preschool children, such a decrease is accompanied by proneness to the tense biosynthesis of glucocorticoids. Children with congenital hereditary connective syndromes manifest adrenocortical dysfunction, most characteristic of Marfan's syndrome, and, to a less degree, of Ehlers-Danlos syndrome and unclassified complex of developmental defects with the Marfan-like phenotype. In view of this fact, the children with Marfan's, Ehlers-Danlos syndromes and with the unclassified complex of developmental defects with the Marfan-like phenotype and children with funnel-like chest deformation, grades II and III, should be given glucocorticoid hormones in stressful conditions (severe diseases, traumas, operations).     

Pericardial effusion as a sign of acquired hypothyroidism in children with Down syndrome

In three children with Down syndrome and acquired hypothyroidism echocardiography was performed before and after the start ofl-thyroxine treatment. Initial studies revealed pericardial effusions which resolved during treatment suggesting that they were caused by hypothyroidism. The incidence of hypothyroidism in Down syndrome is high, but the diagnosis is often missed for lack of specific clinical criteria. The finding of pericardial effusion by echocardiography may be essential in discovering thyroid dysfunction. The cases illustrate that regular thyroid function tests are important in Down syndrome.     

Ventricular dysrhythmias in children with Marfan's syndrome

A teenager with Marfan's syndrome required resuscitation and was found to have multiform premature ventricular contractions and ventricular tachycardia. Of 24 children with Marfan's syndrome, eight (33.3%) were found to have ventricular dysrhythmias, including three with ventricular tachycardia. Six of these eight patients had mitral valve prolapse, and five had prolonged QT or QTU intervals corrected for heart rate. However, only two patients had severe mitral regurgitation, five had only mild heart disease, and one had no detectable heart lesion. The role of mitral valve prolapse and/or delayed repolarization in the development of ventricular dysrhythmia was explored. Delayed repolarization, especially when combined with mitral valve prolapse, is associated with occurrence of ventricular dysrhythmia. Serious ventricular dysrhythmia can occur in children with Marfan's syndrome with or without substantial valve disease, and the dysrhythmia appears to progress with age.     

Difficulties in diagnosing Marfan's syndrome in childhood and adolescence

BACKGROUND: The diagnosis of Marfan's syndrome in childhood and adolescence is made by the criteria of the Gent nosology, which evaluates genetic data, family history and a spectrum of clinical criteria. Due to the age dependent manifestations of the clinical symptoms, combined with the extreme heterogeneity of Marfan's syndrome diagnosis in early childhood remains sometimes difficult. PATIENTS: Prospectively, we analyzed the clinical symptoms of all patients where Marfan's syndrome was suspected. We evaluated those patients between January 1997 and April 2002 by an interdisciplinary approach. METHODS: We compared the clinical datas of the patients by using the Gent nosology and the Berlin nosolgy. RESULTS: 34 patients underwent full follow-up. The median age was 10,32 years with a range of 0,01 to 37,31 years, 19 patients were male, 15 patients were female. In eight patients Marfan's syndrome could be rouled out, 9 of 26 patients (34,6 %) fullified the criteria of the Gent nosology, in 17 of 26 patients (65,4 %) Marfan's syndrome remained just suspected, but was not fullified by the criteria of the Gent nosology. Concerning the Berlin nosology 14 of 26 patients (53,8 %) fullified the criteria, 12 of 26 patients (46,2 %) failed. Due to the criteria of the Gent nosology 14 patients (53,8 %) fullified the criteria of skeletal involvement, 21 patients (80,8 %) fullified cardiovascular major manifestation, 6 patients (23,1 %) had an ophthalmic major manifestation, and 9 patients (34,6 %) had an affected first degree relative or were genetically determined. CONCLUSIONS: On the basis of the data of our patients the diagnosis of Marfan's syndrome in childhood and adolescence can be made more sensitive by the criteria of the Berlin nosology compared to the Gent nosology. This seems to be caused by the age dependent manifestations of the symptoms. Until diagnostic algorhythms of Marfan's syndrome in childhood remain suboptimal, continuous clinical follow-up for all cases even those only in the case of suspected Marfan's syndrome are necessary to exclude complicated course and to improve outcome.     

Pediatric bilateral spontaneous pneumothoraces in monozygotic twins

Primary spontaneous pneumothorax from subpleural bleb disease is an uncommon occurrence in pediatric patients. This is a rare case of monozygotic twins presenting at alternating intervals with a single-sided spontaneous pneumothorax, only to have it surgically corrected, and to present later with a subsequent contralateral pneumothorax. A review of familial spontaneous pneumothoraces occurring in children was queried for congenital or genetic syndromes. We concluded that a vast majority of pneumothoraces in children, like adults, are not spontaneous and not familial linked. While they are rare, some congenital syndromes have been identified. The HLA haplotype A2 B40, the gene encoding folliculin, Alph-1-antitrypsin, Marfan's syndrome, Ehlers-Danlos syndrome and Birt-Hogg-Dube syndrome have all been associated with familial spontaneous pneumothoraces. Physicians need to counsel family members to ensure appropriate observation and expedited treatment is not delayed.     

Metacarpal index in Marfan's syndrome and in constitutional tall stature

The metacarpal index (MCI) in 54 children with constitutional tall stature was mean (SD) 8.65 (0.8) and in 55 with Marfan's syndrome 9.15 (0.9). Indices in both groups showed arachnodactyly and differed from those found in normal individuals (< 7.9). Because the MCI is a poor discriminator patients with tall stature or clinical signs of arachnodactyly should be examined for additional signs of Marfan's syndrome or other hereditary disorders of connective tissue.     

Metacarpal index in Marfan's syndrome and in constitutional tall stature.

The metacarpal index (MCI) in 54 children with constitutional tall stature was mean (SD) 8.65 (0.8) and in 55 with Marfan's syndrome 9.15 (0.9). Indices in both groups showed arachnodactyly and differed from those found in normal individuals (< 7.9). Because the MCI is a poor discriminator patients with tall stature or clinical signs of arachnodactyly should be examined for additional signs of Marfan's syndrome or other hereditary disorders of connective tissue.     

Recurrent respiratory infections: why not talking about it any more?

Recurrent respiratory infections (RRIs) are a common and benign condition affecting about 6% of schoolchildren. Only mild, likely postinfective, modifications of the immune system have been proven, and parents should be reassured that the condition is self-limited. Nevertheless, if not correctly diagnosed, children may undergo several unnecessary investigations and multiple antibiotic courses. On the other hand, in some cases, efforts should be made to identify promptly possible underlying disease, including congenital or acquired immunodeficiency, vascular or airways malformation, tuberculosis, cystic fibrosis, or immotile-cilia syndrome. Careful medical history and clinical examination are usually sufficient to distinguish RRIs and no further research is generally needed. In uncertain cases a complete blood count with differential and the evaluation of total immunoglobulin serum levels are sufficient to exclude neutropenia, T- or B-lymphocyte defects, and selective IgA deficiency. It is essential to observe environmental risk factors: reducing environmental tobacco smoke at home is a fundamental goal and the postponed enrolment of children at day-care centres reduces the risk of RRIs. Antibiotic treatment are not justified since they do not shorten the course of the condition or prevent complications. Use of anti-cough syrups should be avoided. Nasal lavage with saline serum and the blowing are the only justified interventions. Adenoidectomy and tonsillectomy should be planned only in conditions included in validated guidelines.     

A case of Turner syndrome associated with acute myeloid leukemia (M2)

A 9-year-old girl was diagnosed as acute myeloid leukemia-M2 according to the French-American-British classification. In addition, a diagnosis of Turner syndrome (TS) was made, on the basis of the presence of the chromosomal abnormality, ovarian failure, and abnormal physical features. In particular, children with Down syndrome have increased risk of developing acute myeloblastic leukemia especially M7. On the other hand, cases of myeloid leukemia that are complicated with TS are extremely rare. This is the first report of TS with acute myeloid leukemia of M2 subtype and t (8; 21) in children.     

后疫情时代下特发性肾病综合征患儿免疫接种的再思考

感染是特发性肾病综合征患儿较为常见的危重并发症之一。尽管疫苗接种作为预防继发感染的有效措施,但其仍然面临诸多问题。一方面,患儿自身的免疫状态(自身免疫系统紊乱、使用免疫抑制剂等)增加了疫苗接种后免疫系统是否能产生足够保护性抗体的不确定性。另一方面,疫苗潜在的致病风险(肾病复发及诱发疫苗相关疾病)需要在患儿接种时进行综合...     

Management of coagulation disorders in children

Children may be born with an inherited coagulation disorder or can develop an acquired coagulopathy as a consequence of another disease or disorder. The correct diagnosis in either case is essential to appropriate management, to reduce the morbidity and mortality associated with inaccurate diagnosis or the incorrect treatment. The treatment of these disorders is often very expensive and there may be risks to the child associated with the administration of products used to treat coagulation disorders; these must be minimized when possible. For these reasons, the child may require referral to a tertiary specialist centre for further investigations and management. In children presenting with bruising or more severe bleeding manifestations, it is not uncommon for the first presumed diagnosis to be non-accidental injury, and it is essential that a true coagulation defect is excluded in these children.     

Misdiagnosis of venous thrombosis in childhood.]

Thrombotic events are often diagnosed with a delay that may be responsible for definite post-thrombotic syndrome. CASE REPORTS: We report two cases, which emphasize the difficulty of the diagnosis of venous thrombosis in two boys, at age 11 and 12 respectively. The occurrence of a leg pain led to a misdiagnosis of arthritis of hip in both cases. CONCLUSION: Venous thrombosis must be searched for in children with unexplained persistent pain in leg. Precocious anticoagulation is essential for preventing post-thrombotic syndrome.     

The clinical course and echocardiographic features of Marfan's syndrome in childhood

The clinical and echocardiographic manifestations in 25 patients with Marfan's syndrome diagnosed during infancy and childhood (mean [+/- SD] age, 8.1 +/- 4.8 years; range 0 to 16 years) were evaluated. Twenty-one patients (84%) had a midsystolic click, 11 patients (44%) had mitral regurgitation (MR), and five patients (20%) had combined MR and aortic regurgitation (AR). Echocardiography demonstrated mitral valve prolapse in all 25 patients, aortic root dilatation in 20 patients (80%), AR in seven patients (28%), and aortic aneurysm in five patients (20%). During the follow-up period (mean, 5 +/- 4.5 years), progressive AR and aortic aneurysm were documented in four patients, progressive MR in three patients, and progressive aortic root dilatation in two patients. Five patients (22%) died during the follow-up period. Among patients with a positive family history of Marfan's syndrome, MR was less frequent as compared with sporadic cases (29.4% vs 75%, respectively). Progressive cardiovascular involvement was more frequent among patients diagnosed before 10 years of age compared with those diagnosed later (60% vs 12.5%, respectively). Cardiovascular involvement was a common feature of childhood Marfan's syndrome, causing significant morbidity and mortality. Sporadic cases and children diagnosed before 10 years of age represented a particularly high-risk group.     

Functional Pulmonary Atresia in Neonatal Marfan's Syndrome: Successful Treatment with Inhaled Nitric Oxide

Functional pulmonary atresia is characterized by a structurally normal pulmonary valve not opening during right ventricular ejection. We report this rare condition in a premature newborn of a twin pregnancy, in which fetal echocardiography findings were consistent with critical pulmonary stenosis. After birth, features of neonatal Marfan's syndrome were noted. Echocardiography showed a morphologically normal but immobile pulmonary valve with continuous regurgitation. Right ventricular pressure was subsystemic. In this case, initial treatment with nitric oxide, followed by pharmacological duct closure, was successful. Differentiating between anatomic and functional pulmonary valve atresia may be difficult. The echocardiographic criteria are discussed.     

小儿脊柱侧弯并发剃刀背畸形的矫治

目的 矫正脊柱侧弯患儿的肋骨剃刀背畸形。方法 在实行后路脊柱侧弯矫形及脊柱融合时,采用凸侧多节短段肋骨切除术同时矫治剃刀背及术后佩带矫形石膏或支具背心,更为有利。结果 1997年9月至1999年6月共有49例脊柱侧弯患儿施行剃刀背矫形术,未发生气胸。胸膜破裂等并发症,有3例患儿遗有残余剃刀背,其余患儿矫形效果均满意。结论 多节短段肋骨切除术是一种简便有效、安全的方法。在矫形剃刀背的同时,还可提供脊柱融合的植骨材料,免去髂骨取骨。     

Idiopathic thrombocytopenic purpura in children. The case for management without corticosteroids

Acute ITP in children under 13 years of age is generally a benign, self-limited condition with spontaneous recovery occurring within a matter of days or weeks. Our analysis of platelet data indicate no advantage in terms of rate of recovery when steroids are used. In fact, the median of 3 weeks and mean of 3 1/2 weeks from onset to recovery in the nonsteroid-treated children were significantly better than the corresponding figures in the steroid-treated group. In addition, while reducing the risk of intracranial hemorrhage is generally given as the chief therapeutic rationale for using steroids, we have not seen a single case of ICH among 465 consecutive cases of acute ITP in children, the majority (93%) of whom did not receive steroids. On the other hand, adolescents, as adults, with ITP often have the autoimmune (chronic) form of the disease. In this group, corticosteroids may be of at least transient benefit and should be used.