Revival of non-surgical management of neonatal depressed skull fractures

The management of depressed skull fractures in the newborn infant can be controversial. We report on a neonate, born by Caesarean section with difficult head extraction, complicated by a parietal depressed fracture. This 'ping-pong' fracture was treated by elevation with an obstetrical vacuum extractor. No complications occurred. The possible treatment modalities for neonatal depressed fractures, being conservative or operative, will be discussed.     

NEUROLOGY AND BEHAVIOUR OF NEWBORN INFANTS DELIVERED BY VACUUM EXTRACTION ON MATERNAL INDICATION

Abstract. Leijon, I. (Department of Paediatrics, University Hospital, Linköping, Sweden). Neurology and behaviour of newborn infants delivered by vacuum extraction on maternal indication. Acta Paediatr Scand, 69:625, 1980.—23 full-term neonates delivered by vacuum extraction (VE) on maternal indication (primary or secondary uterine inertia) but with no sign of fetal asphyxia and a control group of 16 infants were studied. The infants were examined on the 1st and 5th days after birth with the Brazelton Neonatal Behavioural Assessment Scale and by a standardized neurological examination. On day 1 the VE-infants showed lower visual and auditory responsiveness in the behavioural assessment, and fewer optimal responses in the neurological examination than did the controls. Obstetrical factors such as abnormal presentation, long duration of the second stage of labour, and long duration of VE (≥15 minutes) may explain the differences. The differences between the groups had largely disappeared by day 5.     

CONGENITAL HAEMANGIOENDOTHELIOSARCOMA OF THE LIVER

A case of haemangioendotheliosarcoma of the liver in a newborn boy is reported. The patient died 15 hours after birth. The autopsy findings are described, and the rare occurrence of this tumour is discussed. It does not appear to have been previously diagnosed immediately after birth. A few cases have manifested themselves in the 2nd-5th month of life. Recent improvement in the prognosis for patients with hepatic tumours treated by surgery is mentioned.     

CONGENITAL ASCITES DUE TO MESENTERIC VESSEL CONSTRICTION CAUSED BY MALROTATION OF THE INTESTINES

Abstract. A newborn premature girl with congenital, non-chylous ascites is presented. The ascites recurred although laparocentesis was performed three times. The ascites was probably due to a superior mesenteric vein constriction caused by a malrotation of the intestines. After division of the Ladd-bands no ascites recurred. Non-chylous, congenital ascites may have a surgically treatable cause.     

CONGENITAL BOWING OF THE LONG BONES

ABSTRACT. A short-limbed, normocephalic type of campomelic dwarfism is reported in a 1-year-old boy. The pertinent literature on this subject is briefly reviewed.     

THE RE-EMERGENCE OF EARLY CONGENITAL SYPHILIS

Ten infants with early congenital syphilis are presented. Hepatosplenomegaly is a marked feature in all the infants. The majority of them were of low birth weight. Syphilitic pemphigus was present in 5, and hydrops fe talis in 4. Five infants survived, including one witn hydrops fetalis. Early diagnosis and intensive therapy are necessary for survival. A high index of swpicion is required for early and more frequent diagnosis of this condition.     

THE EFFECT OF EARLY DIAGNOSIS OF CONGENITAL DISLOCATION OF THE HIP

Abstract. The effects of early diagnostic measures of congenital dislocation of the hip (CDH) in Malmo during the years 1956-1972 were investigated. Of 58759 newborns 548 were diagnosed as having CDH. Only 4 cases were missed at the initial examination. Thus, all, or almost all, children with CDH can be diagnosed at birth provided that the initial examination is undertaken within 24 or 48 hours.     

THE MECHANISM OF DIARRHOEA IN CONGENITAL DISACCHARIDE MALABSORPTION

Intestinal malabsorption of lactose and sucrose, and the effect of these disaccharides on the movements of water and electrolytes were studied in two siblings with congenital lactose malabsorption (CLM) and one infant with congenital sucroseisomaltose malabsorption (CSIM), using the intestinal intubation technique. Sucrose in the CLM-patients and lactose in the CSIM-patient were absorbed already in the proximal part of the small intestine, whereas hardly any lactose in CLM and sucrose in CSIM disappeared from the small intestinal lumen. The unabsorbed disaccharides caused considerable movement of water and electrolytes into the intestinal lumen test fluid being diluted to 1 1/2–2 1/2 times in the duodenum and proximal jejunum. The contents of the small intestine were throughout isoosmotic with extracellular fluid and the unabsorbed disaccharides represented 25–30% of the osmotic activity. In the colon, the unabsorbed disaccharides disappeared in varying degree, they were split into monosaccharides and converted to lactate. Water, Na⁺ and Cl^- were absorbed in the colon even in relative excess to the disappearance of the disaccharide and its splitting products, and in all cases the faecal volume was smaller than the volume of the test fluid. In a CLM-patient a 3-week period on lactose-containing diet had no effect on the phenomena demonstrated in the small intestine, but disappearance of lactose and formation of lactate was greater in the colon, and amount of water less in the stools than before. It is suggested that the retention of water in the intestinal lumen through the osmotic activity of the unabsorbed disaccharide, together with the organism's tendency to Na⁺-equilibrium between the luminal and extracellular fluid is the most important mechanism of diarrhoea in disaccharide malabsorption.     

CONGENITAL SPINDLE CELL RHABDOMYOSARCOMA OF THE URINARY BLADDER

Spindle cell rhabdomyosarcoma is a recently described variant of embryonal rhabdomyosarcoma that carries a relatively favorable prognosis when compared with other types of rhabdomyosarcoma. We report the first case of a congenital spindle cell rhabdomyosarcoma in the urinary bladder of a newborn. The patient was diagnosed with obstructive uropathy and cystic kidneys in the antenatal period. The tumor was composed primarily of mature strap-shaped rhabdomyoblasts with cross-striations; it involved focally the full thickness of the bladder wall. No extension into adjacent organs or distant metastases were identified. The patient died of complications of urinary tract obstruction shortly after birth.     

RECENT ADVANCES IN THE UNDERSTANDING OF GENETIC CAUSES OF CONGENITAL HEART DEFECTS

The clinical approach to children with congenital heart defects (CHD) has been revolutionized during the past four decades by developments in diagnostics and therapeutics. In contrast, a profound understanding of the causes of the majority of CHD has only begun to emerge within the past few years. Prior epidemiological studies suggested that Mendelian disorders constituted a very small percentage of CHD and that polygenic inheritance was responsible for the majority of cases. Recent discoveries, largely achieved with molecular genetic studies, have provided new insights into the genetic basis of heart malformations. These studies have shown that CHD caused by single gene or single locus defects is more common than had been suspected. In addition, a higher percentage of heart malformations occur in the context of familial disease than was evident previously. In this review, molecular genetic studies of specific heart lesions and syndromes with CHD are reviewed. Progress on the Human Genome Project has accelerated identi cation of genes for Mendelian traits with heart defects, and it is anticipated that disease genes for most single gene traits will be known within a few years. Future challenges include utilizing this emerging genetic information to improve diagnosis and treatment of children with CHD, and harnessing the power of genomics to analyze isolated heart defects with complex inheritance patterns.     

先天性TORCH感染的治疗预后探讨

目的 探讨先天性TORCH感染的预后，提出防治措施。方法 对51例确诊HCMV、HSV、EBV、TOXO感染-甲组(各31、6、1及13例)分别采用α-干扰素(α-IFN)加静脉用人体免疫球蛋白(IVIG)治疗或用螺旋霉素及阿奇霉素治疗。另选30例足月正常新生儿为对照Z组。随访体格、神经系统发育。结果治疗结束后3或6个月复查血清相关TORCH IgM IgG或／和FQ DNA PCR均转阴性。甲组体格发育明显低于正常儿，精神及运动发育各低于乙组22分及21分。小头、智力低下、脑瘫各为9，19，17例。结论 所述疗法对先天性HCMV，HSV，TOXO感染是有效而安全的。血清相关TORCH抗体及FQ DNA PCR治疗后转阴性，但不能完全修复宫内已形成的脑损伤及发育落后。     

CONGENITAL HYPOTHYROIDISM AND CHANGES IN THE ENAMEL OF DECIDUOUS TEETH

ABSTRACT. Deciduous teeth from children with congenital hypothyroidism were collected and ground sections were prepared. The sections were analysed by means of polarised light and microradiography. The enamel in ground sections of deciduous teeth from children with congenital hypothyroidism showed an increase in areas with elevated pore volume distribution in both the pre- and postnatal enamel. The findings suggest that thyroid hormone influences enamel maturation. Further, alterations in enamel structure, presumably due to prenatal thyroid deficiency, were found to be more common among children with neurological abnormalities at the age of 7 to 9 years.     

MENARCHEAL AGE IN GIRLS WITH CONGENITAL DISLOCATION OF THE HIP

Abstract Fredensborg, N. and Nilsson, B. E. (Department of Orthopedic Surgery, University of Lund, Malmö General Hospital, Malmö, Sweden). Menarcheal age in girls with congenital dislocation of the hip. Acta Paediatr Scand, 66:241, 1977.—The age at menarche was recorded in a series of girls with congenital dislocation of the hip and compared with a control sample drawn from the population at risk. The menarcheal age of the CDH patients was decreased by, on average, six months, the decrease being caused by the presence among the CDH girls of a few individuals with a very early menarche. These girls were heavier and taller than other CDH girls, who in their turn, are taller and heavier than other girls. The findings support the concept of CDH as a manifestation of some hormonal deviation, which also causes early physical maturation.     

THE EFFECT OF VARIOUS THERAPEUTIC TRIALS ON THE PORPHYRIN EXCRETION IN A CASE OF CONGENITAL ERYTHROPOIETIC PORPHYRIA

ABSTRACT: Eriksen, L. and Seip, M. (Institute of Physiology, University of Oslo, and Department of Pediatrics, University Hospital, Oslo, Norway). The effect of various therapeutic trials on the porphyrin excretion in a case of congenital erythropoietic porphyria. Acta Paediatr Scand 64:287, 1975.–A patient with a biochemically "new" type of congenital erythropoietic porphyria has been studied under various therapeutic trials. Splenectomy had no demonstrable effect on porphyrin excretion or clinical picture. Vitamin E caused a moderate fall in porphyrin excretion, however, there was no significant improvement in light tolerance and tendency to hemolysis. β-carotene reduced skin photosensitivity appreciably, while total porphyrin excretion remained unchanged and the tendency to develop hemolytic anemia showed only slight improvement. Red cell transfusion caused a rapid, dramatic fall in porphyrin excretion (in 4–5 days) and a transient increase in light tolerance, while the distribution of the different porphyrins excreted remained unchanged. These observations indicate that all or nearly all the abnormal porphyrins excreted are of erythropoietic origin, and that the overwhelming part of the porphyrins originate from an abnormal population of shortlived red cells. Findings on fluorescence microscopy of blood and bone marrow support this view. Meticulous protection against light of the shorter wavelengths caused a similar rise in hemoglobin level as produced by red cell transfusion, however, in this instance the total excretion of porphyrins did not fall. It is suggested that the inhibitory effect of transfusion on erythropoiesis (and thereby porphyrin excretion) might be due partly to a depression of erythropoietin formation, partly to the presence of an erythropoiesis inhibiting factor (chalone) in the transfused red cells.     

A PROSPECTIVE STUDY ON THE INCIDENCE AND SIGNIFICANCE OF CONGENITAL CYTOMEGALOVIRUS INFECTION

Abstract. Screening of 3060 neonates for congenital cytomegalovirus (CMV) infection by virus excretion in the urine showed an overall incidence of 0.4%. The incidence was about 1 % for mothers between 16 and 25 years and only 0.2% for mothers between 25 and 35. No mothers over 35 years of age gave birth to congenitally infected infants. The percentage of women in the child-bearing age susceptible to CMV infection was estimated by the absence of CMV complement-fixing antibodies in cord sera and ranged from 48% to 33% with increasing age. None of the infected infants showed obvious signs of congenital CMV infection at birth. At follow-up, two infants showed slight, but transient symptoms compatible with a foetal infection; a pair of premature twins exhibited retarded physical and psychomotor development, but this could just as well be ascribed to the prematurity itself. None of the infants had detectable CMV-IgM antibodies in cord sera, but a trend towards elevated total IgM concentration in cord sera and elevated virus excretion titres appeared in the infants with symptoms. With the very low incidence and no signs of sensomotor sequelae the preliminary conclusion is that foetal CMV infection in our population by no means has a significance to deserve routine screening or a vaccination programme.     

DIAGNOSIS OF CONGENITAL CYTOMEGALOVIRUS INFECTION BY EXAMINATION OF PLACENTA: Application of Polymerase Chain Reaction and in Situ Hybridization

We examined the placentas of 12 patients in whom congenital cytomegalovirus CMV infection was suspected from serological and or pathological evaluation. Seven patients died including four intrauterine deaths and five survived. On histological examination, the characteristic inclusion bodies were detected in only three placentas, and villitis with plasma cell infiltration was seen in eight placentas. Immunohistochemistry using a specific antibody against CMV improved the sensitivity of CMV detection 10 cases were positive . With the polymerase chain reaction PCR following the extraction of DNA from formaldehyde-fixed placenta samples, CMV DNA was detected in seven cases. All 12 subjects were diagnosed with CMV infection by additional Southern blot analysis after the PCR. CMV DNA was also detected by an in situ hybridization method in all cases. With current molecular biological techniques the placenta can be reliably used for the diagnosis of congenital CMV infection.     

CONGENITAL CYSTIC ADENOMATOID MALFORMATION OF THE LUNG: A Report of Two Cases

ABSTRACT. Michalsen, H. (Department of Paediatrics, Ullevål Hospital, Oslo, Narway). Congenital cystic adenomatdd malformation of the lung. Acta Paediatr Scand, 63: 793, 1974.—The clinical picture of the congenital cystic adenomatoid malformation of the lung is reviewed. Two patients suffering from this entity are presented, the first patient was a newborn girl with acute respiratory distress shortly after birth, and the seeond patient was 12 months old and had a history of repeated pulmonary infections. The importance of, and difficulty in, differentiation between diaphragmatic hernia and the congenital cysts of this type in newborn infants is emphasized.     

DEFECT IN BILE ACID CONCENTRATING ABILITY OF THE GALLBLADDER IN CONGENITAL CHLORIDE DIARRHOEA

Abstract. Bakkeren, J., Monnens, L. and van Os, C. (Departments of Paediatrics and Physiology, University of Nijmegen, Nijmegen, The Netherlands). Defect in bile acid concentrating ability of the gallbladder in congenital chloride diarrhoea. Acta Paediatr Scand, 70:43, 1981.–Congenital chloride diarrhoea is assumed to be caused by a defect in the coupled NaCl influx mechanism in the ileum. As a similar coupled NaCl transport mechanism has been postulated in the gallbladder, the concentrating ability of the gallbladder was studied in a patient with congenital chloride diarrhoea. Bile acid concentrations were measured in the duodenal fluid before and after stimulation of gallbladder contraction by cholecysto-kinin. In the chloride-diarrhoea patient no increase in bile acid concentration was established after cholecystokinin injection, in contrast to a pronounced increase in three control children, suggesting that the absorption of salt and water by the gallbladder may be disturbed in the patient. The results support the postulated similarity of the NaCl transport mechanisms in the ileum and gallbladder. In congenital chloride diarrhoea one defect in a NaCl transport protein could explain the disturbances in electrolyte absorption.