A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature

In this paper, a boy is reported with the association of congenital analbuminemia (CAA) and steroid-sensitive idiopathic nephrotic syndrome (INS), two conditions resulting independently in reduced colloid oncotic pressure. The unique occurrence helps confirm earlier reports that albumin is not the exclusive factor responsible for maintaining colloid oncotic pressure.     

Babies born with major disabilities: the medical-legal interface

This article explores some of the legal and medical issues that confront doctors, lawyers, ethicists, and families when faced with the problems of a baby born with one or more major disabilities. Attitudes vary widely, and these are emphasised by cultural and social aspects in different parts of the world. Although the legal issues vary, in a large number of countries there appears to be less variation than with the medical issues.     

An epidemiological study of congenital malformations in new born

In a prospective study of 3000 consecutive deliveries (14 twin deliveries), the rate of congenital malformation was reported to be 27.20 per 1000 births (82 out of 3014). No significant difference was observed in the frequency of congenital malformation in urban rural status, in different religion and caste, and in male female babies. An increase in frequency was seen in advanced maternal age and in primi and fourth gravida mothers. A number of environmental factors studied, such as use of different tooth powders, type of drinking water, different cooking vessels, associated vitamin deficiencies did not seem to influence the prevalence of birth defects significantly. The factors which significantly increased the rate of congenital malformation were consanguinity in parents, heridofamilial history of malformations, presence of hydramnios, maternal febrile illness in first trimester, past history of abortion and history of progesterone intake during pregnancy.     

Boy:girl ratio in children born with different forms of cardiac malformation: A population-based study

Summary The boy: girl ratio was calculated for all live births with cardiac malformation in Bohemia (population 6.3 million) from 1977–1984. Complete coverage of all deceased children in Bohemia by necropsy and of all patients with heart disease by our center enabled us to collect reliable data. Of 4409 children born with a heart defect, there were 2296 boys and 2113 girls, a ratio of 1.09: 1. In the total population of 664,218 children born during the same period of time, the ratio was 1.06:1. A higher proportion of boys was found with double outlet right ventricle (2.68:1), hypoplastic left heart (2.25:1), transposition of the great arteries (2.11:1), aortic stenosis (1.95:1), pulmonary atresia (1.55:1), tricuspid atresia (1.45:1), coarctation of the aorta (1.30:1), and corrected transposition of the great arteries (1.25:1). There were significantly more girls than boys with persistent ductus arteriosus (1:1.66), Ebstein's anomaly of the tricuspid valve (1:1.57), truncus arteriosus (1:1.22), atrioventricular septal defect (1:1.17), and tetralogy of Fallot (1:1.12). The difference in sex prevalence in the remaining heart defects was less than 10%.     

Rapidly evolving hypopituitarism in a boy with multiple autoimmune disorders

A 10‐year‐old boy with acute onset cranial diabetes insipidus and multiple autoimmune disorders had evolving panhypopituitarism, thought to be due to autoimmune hypophysitis. Over 18 months, a dramatic clinical course with progressive hypopituitarism and development of type 1 diabetes mellitus was evident. Serial brain imaging showed changes suggestive of germinoma.     

3岁男孩反复血小板减少伴溶血性贫血

患儿男,3岁8个月,反复血小板减少伴溶血性贫血3年余,体检无肝脾、淋巴结肿大,无手指畸形.实验室结果示直接抗人球蛋白试验阴性,凝血功能正常,胆红素、乳酸脱氢酶及网织红细胞升高,完善血管性血友病因子裂解酶(von Willebrand factor-cleaving protease,ADAMTS13)活性检测示极度缺乏...     

Congenital hypothyroidism with multiple ovarian cysts

A case of ectopic thyroid with congenital hypothyroidism presenting with bilateral multicystic ovaries without marked precocious puberty is reported. The cystic ovaries disappeared dramatically after thyroid hormone therapy. Conclusion When ovarian cysts are found in prepubescent females, the possibility of associated hypothyroidism should be considered. Received: 9 October 1998 / Accepted: 6 April 1999     

An autopsy case of congenital complete heart block in a newly born of a mother with systemic lupus erythematosus

Summary An autopsy case of congenital atrioventricular (AV) heart block is described. A newborn infant of a mother with systemic lupus erythematosus died 10 h after birth. Autopsy revealed hematoxylin bodies in the AV node, central fibrous body, and fibrous annulus of the heart. Also, immunoglobulin G (IgG) localization in the hematoxylin bodies was demonstrated by an immunoperoxidase technique. It is suggested that IgG or immune complexes crossed the placenta and that the immune deposition directly injured the cardiac conduction system, causing AV block.     

A Japanese boy with Young-Simpson syndrome

In 1987 Young and Simpson reported a child with hypothyroidism, a congenital heart disease, severe mental retardation and striking facial dysmorphism, including microcephaly, blepharophimosis, bulbous nose, thin lip, low-set ears and micrognathia. This study presents an 8-month-old boy with virtually identical features to those in Young and Simpson's original case. The patient is a sporadic case and his parents are unrelated and phenotypically normal, hence the family data corresponds to any mode of inheritance. This is the first male case reported in the world and the first in Orientals.