新生儿先天性人巨细胞病毒感染的中枢神经系统损伤

目的 调查先天性人巨细胞病毒（HCMV）感染患儿的神经系统异常表现，探讨先天性HCMV感染对患儿神经系统的损伤。方法以72例先天性HCMV感染患儿为研究对象，在用更昔洛韦治疗的同时对其进行新生儿行为神经测试（NBNA）、头颅CT或MRI检测、腰穿脑脊液检查及听力检查。部分患儿在脑康复治疗后复查NBNA。结果72例先天性HCMV感染患儿中，NBNA评分异常率为40．30％（27／67）；15例患儿经康复治疗后NBNA评分提高有统计学意义（t=-7．632，P=0．002）。头颅影像学检查异常率为47．37％（27／57）；影像学异常表现为：脑实质灶性坏死或脑软化灶、脑发育迟缓、脑实质出血、脑室周围钙化及脑积水。2例患儿出现脑脊液异常。听力筛查未通过率为53．03％（35／66），确诊听力障碍4例。结论先天性HCMV感染易导致神经系统损伤，对患儿早期进行神经系统功能的监测并给予相应治疗有助于改善预后。     

Epidemiology of Wilms tumor

Wilms tumor affects approximately one child per 10,000 worldwide before the age of 15 years. Incidence rates appear to be slightly elevated for U.S. and African Blacks in comparison to Whites, but are only half as great among Asians. Several case-control studies have suggested that paternal occupational or maternal hormonal exposures during pregnancy may increase the risk of Wilms tumor, but small numbers of subjects and inconsistencies in the patterns of exposures do not permit firm conclusions to be drawn. It is unlikely that such environmental exposures play a major role in the etiology of Wilms tumor. The median age-at-onset of Wilms tumor is 38 months in the U.S. National Wilms Tumor Study series, with cases in girls occurring on average 6 months later than in boys. Patients with bilateral tumors, aniridia, cryptorchism/hypospadias, Beck-with-Wiedemann syndrome, or intralobar nephrogenic rests tend to be diagnosed much younger than average (median 17–27 months). Those with familial disease or multicentric tumors have intermediate age-at-onset distributions, while those with perilo-bar nephrogenic rests are diagnosed at older ages. The epidemiologic features suggest that somatic mosaicism, rather than a germ-line mutation, may be responsible for some of the bilateral and multicentric cases. © 1993 Wiley-Liss, Inc.     

Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma

One hundred seventy-three consecutive cases of medulloblastoma recorded in the Manchester Children's Tumour Registry from 1954 to 1989 were studied. After review of case notes, X-rays, and health surveys the clinical outcome and incidence of congenital anomaly was determined. A previously unreported association with Rubinstein Taybi syndrome was found. Evidence of a genetic syndrome or congenital anomaly was found in 6.4%. These figures provide further evidence of the higher-than-expected incidence of congenital abnormalities. © 1993 Wiley-Liss, Inc.     

Contribution of pulmonary hemodynamics on manifestation of allergic asthma in patients with congenital heart disease

The purpose of this study was to determine whether pulmonary hemodynamic abnormalities relate to manifestations of allergic asthma. In 448 patients with congenital heart disease the relationships between asthma and age or pulmonary arterial blood (PA) flow were studied. Asthma (allergic and non-allergic) was more common in 39 (19%) of 201 patients with high PA flow, compared with the incidence in those with normal PA flow (6/117, 5%; P < 0.001) and reduced PA flow (1/130, 1%; P < 0.05). In the high PA flow group, the frequency of asthma declined significantly (P < 0.01) with age, from 25–26% in the 6 month-5 year patient group to 5% in the 6–12 year old patients. The frequency of asthma, including allergic type, was significantly (P < 0.01) greater in patients with pulmonary hypertension (15/24, 63%) than in those without (10/77, 13%) at the age of 6 months to 1 year. Asthma in the high PA flow group was associated with other allergic diseases in 30 (77%) of 39 patients, including food allergy in nine (23%), atopic dermatitis in 14 (36%), allergic rhinitis in seven (18%) and abnormally high total IgE levels in 14 (36%). These findings suggest that high pulmonary flow or pulmonary hypertension enhances the manifestation of allergic disease, particularly asthma.     

Medium-term results of percutaneous transluminal balloon aortic valvuloplasty with Inoue balloon catheter for congenital aortic stenosis

Although percutaneous transluminal balloon aortic valvuloplasty (PTAV) has been performed for congenital aortic stenosis in infants and children for several years, its efficacy and the associated aortic regurgitation (AR) have not been widely discussed. Percutaneous transluminal balloon aortic valvuloplasty using an Inoue balloon catheter was performed for congenital aortic stenosis in 12 patients (4–16 years old) in this study. The systolic aortic valve pressure gradient ranged from 42 to 111 mmHg before PTAV and became < 50 mmHg immediately after PTAV in 10 cases (83%). Eight of these 10 patients had no increase in the gradient during subsequent observation for a period of 9–40 months. Aortic regurgitation increased immediately after PTAV in nine cases (75%). It increased from grade 1 to grade 2 in eight cases and from grade 1 to grade 3 in one patient; no significant enlargement of the left ventricular end-diastolic diameter and no significant change in the left ventricular end-diastolic pressure (LVEDP) or the cardiac index was observed during follow-up in these patients. There was a correlation between the diameter of the balloon and efficacy; an appropriate diameter was considered to be about 90% of the aortic annular diameter. Changes in the hemodynamic parameter after PTAV with an Inoue balloon were small in most patients and this procedure is considered to be a treatment that should be attempted prior to surgery for congenital aortic stenosis.     

Anomalous Origin of Coronary Artery in Association with Aorticopulmonary Window

Aorticopulmonary window associated with anomalous origin of coronary arteries is rare; only 12 cases have been reported previously. Origin of coronary arteries from the communicating bridge is rare, having occurred in only five of these cases. We describe two additional cases of this entity, in one of which the right coronary artery arose from the window proper. We also review the previously reported cases.     

CYP11β1 (11-beta-hydroxylase) deficiency in congenital adrenal hyperplasia

Objective : To review experience of CYP11β1 deficiency (previously known as 11β-hydroxylase) at the Royal Children's Hospital, Melbourne, Victoria.
Methodology : A retrospective case review was conducted from 1974 to 1995 with five cases identified.
Results : Age of presentation ranged from 1 day to 7 years. Presentation was with ambiguous genitatia at birth (two females), simple virilization (two males) and suspected early puberty in mid childhood (one female). Associated clinical features were hypertension (three cases) and tall stature with markedly advanced bone age (four cases). Biochemical abnormalities consistent with CYP11β1-deficiency were elevated urinary tetrahydro-11-deoxycortisol ( n = 5) and elevated serum 11-deoxycortisol ( n = 3). Additional abnormalities were elevated 17-hydroxyprogesterone ( n = 3), elevated androstenedione ( n = 4) and elevated dehydroepiandrosterone sulphate ( n = 4). The clinical features and investigations suggested CYP11β1-classical deficiency in four patients and CYP11β1-non-classical deficiency in one patient.
Conclusions : The five cases of CYP11β1-deficiency demonstrate a spectrum of clinical abnormalities, with diagnostic difficulties in two cases and delayed presentation in three cases. Prompt diagnosis of CYP11β1-deficiency is facilitated greatly by the availability of a gas chromatography-mass spectrometry instrument and is essential to avoid the long-term effects of hypertension and hyperandrogenism.     

Mental health and psychosocial functioning in adolescents with congenital heart disease. A comparison between adolescents born with severe heart defect and atrial septal defect

Twenty-six adolescents, aged 13–18 years, with severe congenital heart disease were matched for sex, age and living area with 26 adolescents with repaired atrial septal defect and regarded as physically fit. These two groups were compared according to somatic condition, psychopathology, psychosocial functioning and chronic family difficulties. A higher rate of psychiatric problems in the complex group, an association between psychosocial functioning and physical capacity, as well as an association between psychosocial functioning and chronic family difficulties were observed. These findings suggest that physical capacity is of crucial importance for mental health and functioning of adolescents with congenital heart disease. The association with chronic family difficulties also suggests that a comprehensive biopsychosocial approach is necessary in the treatment and rehabilitation of these patients.     

Congenital Mesoblastic Nephroma: Cytogenetic Comparison to Leiomyoma

We report the karyotype analysis of a congenital mesoblastic nephroma (CMN), a usually benign renal tumor occurring most commonly during early infancy. The tumor was composed of interlacing bundles of spindle-shaped cells and it displayed both the classic and cellular histologic patterns. Immunoperoxidase studies showed reactivity for vimentin and actin. The tumor cell karyotype included additional chromosomes 11 and an altered chromosome 12. Trisomy or tetrasomy of chromosome 11 is present in five of six reported cases and may represent a frequent alteration in the karyotype of the CMN. Furthermore, breakpoints in the q13-15 region of chromosome 12 are commonly seen in leiomyomas, which are histologically similar to the CMN. Thus, the karyotype described here illustrates another similarity between the two tumor types.     

Neonatal Pulmonary Hypoplasia: An Autopsy Study of 25 Cases

Pulmonary hypoplasia (PH) is defined as defective or incomplete development of lungs that are immature for gestational age. A prospective study was done to establish practical criteria for the diagnosis of pulmonary hypoplasia and to determine the relative frequency of pulmonary hypoplasia and its associated congenital malformations. Postmortem, formalin-inflated, routinely processed lungs were examined for fresh lung weight, fixed lung volume, radial alveolar count, and tissue maturity. Of these, lung volume was found to be the least useful. However, no single parameter was adequate for diagnosis in every case. Using the remaining three in conjunction, reliable diagnostic criteria were established. In this series of 113 cases, 22% had pulmonary hypoplasia as the primary cause of death, of which one-third had no associated congenital malformations to account for the development of pulmonary hypoplasia. It was found that premature rupture of membranes (PROM) for as short as 5 days could lead to fatal PH. It is concluded that PH is a common problem in neonatal autopsies and can be diagnosed in the average laboratory. Recognizing PH is important because once it has developed, intrauterine intervention in cases of oligohydramnios and postnatal treatment with surfactant inhalation cannot influence the outcome. It remains to be seen whether early fluid replacement in PROM will prevent development of PH.