NEONATAL CONVULSIONS Incidence and Causes in the Stockholm Area

Abstract. The causes and short-term prognoses of neonatal convulsions in infants less than four weeks of age were studied in 77 full-term infants born in Stockholm in 1970–1976. In half of the infants (48%), hypoxia was considered to be the probable main etiology, while infection and metabolic disease including hypoglycemia and hypocalcemia were the next commonest cause, 12% for each condition. The etiology was unknown in 29 % of the infants although 15 of those 22 included in this group had other additional diagnoses. The total mortality was 13 %. At one year of age, 19 of the surviving 64 infants (30%) had severe psychomotor retardation. Of 11 infants with normal mental development at 12 months of age 6 had cerebral palsy and 5 epileptic seizures. Thirty-four (53 %) of the infants still had no signs of sequelae. The poorest prognosis was found in the group with hypoxia as the main probable etiology. The incidence of neonatal convulsions was 1.5 per 1000 full-term deliveries. In a similar study from Gothenburg which was performed 10 years earlier the incidence was 3.7 per 1000. Corresponding figures for perinatal mortality rate were 13.5 and 23.8.     

FAMILIAL ATAXIC DIPLEGIA

Abstract. Subrahmanyam, G., Tripathi, A. M. and Agarwal, K. N. (Department of Paediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India). Familial ataxic diplegia. Acta Paediatr Scand, 63: 472, 1974.–A family with ataxic diplegia, mental and physical growth retardation in two generations is presented. The disease was limited to male members, suggesting a sex-linked transmission.     

HYDROPS OF THE GALLBLADDER IN THE NEONATAL PERIOD

Abstract. Appleby, G. A. J., Forestier, E. and Starck, C. J. (Department of Paediatrics, Sundsvalls Hospital, Sundsvall, Sweden). Hydrops of the gallbladder in the neonatal period. Acta Paediatr Scand, 70:117, 1981.–A case of hydrops of the gallbladder in the neonatal period in which the diagnosis was made with the help of ultrasonography is described. To our knowledge this is the first case of gallbladder hydrops that has been described in the newborn period.     

URINARY EXCRETION OF ERYTHROPOIETIN AND ERYTHROPOIESIS INHIBITORS IN THE NEONATAL PERIOD

ABSTRACT. Lindemann, R. (Pediatric Research Institute, Department of Pediatrics, University Hospital, Rikshospitalet, Oslo, Norway). Urinary excretion of erythropoietin and erythropoiesis inhibitors in the neonatal period. Acta Paediatr Scand, 63:764, 1974. —The regulation and suppression of erythropoiesis in the neonatal period has been studied. Urines from normal newborn babies were collected from time of delivery and during the first week of life. Both erythropoietin (ESF) and an erythropoiesis inhibiting factor (EIF) were separated by Sephadex gel filtration. The factors were tested according to days after birth and related to the creatinine coefficient. The exhypoxic polycythemic mouse bioassay was used and the results were expressed as the per cent incorporation of ⁵⁹Fe into newly formed red blood cells. A demonstrable amount of ESF was found only in the urine voided the first day of life, indicating that the ESF production is shut off immediately after birth. From the third day of Life, a marked inhibitory effect of the EIF fractions was found. This may indicate a dual mechanism behind the decrease in neonatal erythropoiesis: a shut off of the ESF production and the appearence of erythropoiesis inhibitors.     

SISOMICIN TREATMENT OF SERIOUS NEONATAL INFECTIONS A Clinical and Pharmacokinetic Study

Abstract. 23 infants, 20 of which had verified or clinically highly suspected serious infections in the neonatal period, were treated with a new antibiotic aminoglycoside, sisomicin, i.m. in doses from 2.8 to 6.6 mg/kg/24 h. Clinical cure was obtained in 18 of 20 cases, and marked improvement in one case. Adverse effects were only observed in two infants with tenderness at the injection sites. Serum concentrations and half-life estimations showed that the concentrations were similar to those obtained for gentamicin, and that half-life was independent of postnatal age, but highly correlated to the gestational age and to body weight. Consideration should therefore be given to the prolonged half–life of the drug in immature and low birth weight infants.     

新生儿及婴儿胆汁淤积症诊断方法及流程进展

<正>胆汁淤积症(cholestasis)是以高结合胆红素血症为主要临床表现的综合征~([1]),病因复杂;除胆道闭锁(biliary atresia,BA)、早产儿静脉营养相关、感染等病因外,多种导致胆汁淤积症的遗传学病因,逐渐被认识。尽早确定病因,是改善患儿预后的关键,但目前国内关于新生儿及婴儿胆汁淤积症的临床诊断流程尚未达成共识。本文就胆汁淤积症不同诊断方法进展及国内外诊断管理方案最新     

LISTERIOSIS DURING PREGNANCY AND NEONATAL PERIOD IN SWEDEN 1958–1974

Abstract. In 1958–1974 altogether 46 cases of bacteriologically verified infection of Listeria monocytogenes were diagnosed during pregnancy and the neonatal period. Eight pregnancies resulted in abortion and three in stillbirth. Thirty-seven children were born alive, 17 of whom died, all but one within a few days. These children were divided into three groups according to their age at the onset of illness: 22 cases with "Early disease" (≤2 days), four cases with "Intermediate disease" (3–5 days) and eight cases with "Late disease" (≤6 days). Three children were apparently healthy. Septicemia or "Granulomatosis infantiseptica" dominated in "Early disease" and claimed as many as 13 deaths. In "Late disease" all the children had meningo-encephalitis, and only one of them died. The symptoms were typical of purulent meningitis. The group of "Intermediate disease" consisted of overlapping cases of the other two groups. Ampicillin alone or combined with gentamicin seemed to be the drug of choice in the therapy of neonatal listeriosis. Of the surviving children, two were seriously damaged and two had moderate injuries. Fifteen children are apparently healthy. In cases where pregnancy terminated in abortions, stillborns or children with "Early disease", the mothers often showed signs of infection. The mothers of the children with "Late disease" were apparently healthy. These children were infected from other sources, some of them nosocomially. If listeriosis is diagnosed during pregnancy, the women should be treated with ampicillin.     

MALFORMATION OF THE GREAT VEIN OF GALEN WITH NEONATAL HEART FAILURE Report of Two Cases

ABSTRACT. The clinical and pathological findings in two neonates with the malformation of the great vein of Galen are given. They both reported with serious neonatal heart failure suggesting congenital heart disease. In one of them cardiac catheterization revealed a foetal pattern of circulation causing cyanosis. A bruit and in one of them a thrill over the skull gave the clinical diagnosis of an intracranial arteriovenous aneurysm. They died 48 and 144 hours after birth in spite of medical treatment. The outlook for patients having malformation of the great vein of Galen and suffering neonatal heart failure treated conservatively, seems hopeless.     

SEQUENTIAL DETERMINATION OF CRP, α1-ANTITRYPSIN AND HAPTOGLOBIN IN NEONATAL SEPTICAEMIA

ABSTRACT. In 312 preterm and term newborn infants serum concentrations of C-reactive protein (CRP), haptoglobin and α₁-antitrypsin were measured during several days by radial immunodiffusion. In addition white blood cell count and the ratio of band to total neutrophils (B/N-ratio) were determined. In 12 infants with proven sepsis CRP was found elevated above the upper limit of the normal range (20 mg/l). Successful therapy was followed by a decrease of CRP concentration. In infants with suspected infection high CRP values were found in most cases. In contrast, haptoglobin and α₁-antitrypsin concentrations differed not significantly between the group of infants without infection, with proven and with suspected infection. White blood cell count and B/N-ratio also were not appropriate for the early identification of bacterial infection in the newborn period.     

Familial cavernous angiomas of the brain: Observations in a four generation family

A family with a history of cavernous angiomas of the brain was investigated by MRI. The disease was present in four generations of the family and is consistent with autosomal dominant inheritance. Amongst affected individuals, there was considerable variability in the extent of intraparenchymal cavernomas and neurological symptoms as a result of bleeding events. Three siblings manifested with seizures, two affected persons were symptomfree at the time of investigation, and one sibling had neurological symptoms without certain correlation with cavernomas. The disease appeared to have an earlier onset in younger generations.     

The acrocallosal syndrome

The acrocallosal syndrome is characterized by peculiar facies, polydactyly of the hands and/or feet, and agenesis of the corpus callosum. Two unrelated 4-month-old boys with consanguineous parents are reported. Both exhibited the main features of the syndrome, but neither of them had partial reduplication of halluces. Consequently, pre-axial polydactyly of the feet is not considered to be a constant feature of the acrocallosal syndrome. The similarity of the acrocallosal syndrome to Greig syndrome is discussed, but it appears unlikely that the two syndromes are identical. Consanguinity in both cases is a strong argument in favour of a recessive mode of inheritance.Abbreviation HC head circumference     

SERUM ALPHA-FETOPROTEIN LEVELS IN EXTRAHEPATIC BILIARY ATRESIA, IDIOPATHIC NEONATAL HEPATITIS AND ALPHA-1-ANTITRYPSIN DEFICIENCY (PiZ)

Abstract. Serum alpha-fetoprotein levels were measured using a sensitive radioimmunoassay in 77 infants presenting with persistent conjugated hyperbilirubinaemia. A broad range of alpha-fetoprotein concentrations occurred in both the 23 infants with extrahepatic biliary atresia and the 35 with idiopathic neonatal hepatitis but the 13 with alpha-1-antitrypsin deficiency had uniformly low levels. High alpha-fetoprotein concentrations (above 10 000 μg/I) favoured the diagnosis of neonatal hepatitis especially in the first ten weeks of life, but the overlap between neonatal hepatitis and extrahepatic biliary atresia was large and alpha-fetoprotein determination cannot be recommended as a reliable method for distinguishing the two conditions. Serial alpha-fetoprotein values showed no consistent relationship with standard liver function tests and gave no guide to prognosis. There was an association between alpha-fetoprotein production and needle biopsy evidence of hepatic giant cell transformation. The uniformly low alpha-fetoprotein levels in alpha-1-antitrypsin deficient infants with neonatal hepatitis is a new observation and possible mechanisms for disordered glycoprotein release are discussed.     

Multiple coronary stenoses of unknown etiology

Summary The case of a 13-year-old girl with multiple coronary stenoses and abundant collaterals, but no risk factors, is described. She was not suspected of having ischemic heart disease until an abnormal electrocardiographic pattern was detected during a routine examination in school. All children with electrocardiographic abnormality should be carefully examined, even though they have neither symptoms nor coronary risk factors.     

THE OCULOCEREBRORENAL SYNDROME OF LOWE IN FOUR GENERATIONS OF ONE FAMILY

A Danish family with five proven and three additional possible cases of the oculo-cerebro-renal syndrome is described. All proven carriers had cataract, but the lenticular opacities varied considerably with respect to magnitude, appearance, and location. In this family, the disease was transmitted as a sex-linked recessive trait, the complete syndrome being seen in boys only.     

Fetal Vascular Obstructive Lesions: Nosology and Reproducibility of Placental Reaction Patterns

The purpose of this study was to assemble and test the reliability of a complete set of the placental reaction patterns seen with chronic fetal vascular obstruction in the hope that this might provide a standardized diagnostic framework useful for practicing pathologists. Study cases (14 with fetal vascular obstructive lesions, 6 controls) were reviewed blindly by seven pathologists after agreement on a standard set of diagnostic criteria. Majority vote served as the gold standard and 80% of the 180 diagnoses rendered (9 diagnoses each for 20 cases) were agreed upon by at least six of the seven scores. The sensitivity of individual diagnosis relative to the group consensus averaged 83% (range, 69–100%) and specificity averaged 91% (range, 86–100%). Reproducibility was measured by unweighted kappa-values and interpreted as follows: < 0.2, poor; 0.2–0.6, fair/moderate; > 0.6, substantial. Kappa values for lesions of distal villi were generally superior to those for lesions involving large fetal vessels: avascular villi (0.49), villous stromal-vascular karyorrhexis (0.58), and villitis of unknown etiology (VUE) with stem villitis and avascular villi (0.65) versus large vessel thrombi (any vessel, 0.34; chorionic plate vessel, 0.40) and intimal fibrin cushions (recent, 0.47; remote, 0.78). Reproducibility for a global impression of any villous change consistent with chronic fetal vascular obstruction was substantial (0.63), while that for a more severe subgroup was moderate (0.44). Three points are worthy of emphasis. Our system separately recognizes, but later combines, uniformly avascular villi and villous stromal-vascular karyorrhexis as manifestations of the same underlying process. We propose that this combined group of villous lesions be dichotomized with the terms fetal thrombotic vasculopathy or extensive avascular villi (and/or villous stromal-vascular karyorrhexis) being reserved for the group with 15 or more affected terminal villi per section. Scattered foci of avascular villi (and/or villous stromal-vascular karyorrhexis) could be used to describe less severe cases. Finally, we distinguish VUE with stem villitis and avascular villi (obliterative fetal vasculopathy) as a distinct process with substantial perinatal morbidity.     

HEREDITARY DEFECT OF THE SACRUM AND COCCYX WITH ANTERIOR SACRAL MENINGOCELE

Six familial cases of partial absence of the sacrum and the coccyx are described. Four had sacral ventral meningocele. There was a sex-linked dominant inheritance. The diagnosis of the meningocele was established by myelography. The symptoms were constipation and incontinence of urine. Three patients also had recurrent infections of the urinary tract, and three had congenital anal stenosis.     

CONGENITAL RENAL DYSPLASIA, RETINAL DYSPLASIA AND MENTAL RETARDATION ASSOCIATED WITH HYPERPROLINURIA AND HYPER-OH-PROLINURIA

A case is described with prolinuria and OH-prolinuria associated with congenital renal dysplasia, retinal dysplasia and mental retardation. The mental disturbance showed a peculiar picture of autism. Consanguinity supports the assumption that the disease is caused by a recessive gene. There was an accumulation of nervous diseases in the family. This raises the question whether one recessive gene may condition the individual for psychiatric diseases.     

The Coffin-Lowry Syndrome: Four New Cases In Three Families

Four Japanese boys with the Coffin-Lowry syndrome in three unrelated families were reported. Three of the four patients aged2–8 years had typical features of the syndrome including severe mental retardation, coarse facies, tapered fingers, and distal phalangeal tufting, while the remaining patient, examined at the age of seven months because his eldest brother was affected, had less characteristic features. As mentioned by many authors, clinical manifestations of the three patients had developed with age, so then the features in the youngest patient may progress in his childhood. All of the three mothers had variable features that were moderate to normal. Tapered fingers and tufting of distal phalages were the most common features among them and would be most diagnostic for the detection of affected females.     

Neonatal weight loss and gain patterns in caesarean section born infants: integrative systematic review

There is evidence that caesarean section delivery can impact on neonatal weight loss and weight gain patterns in the first 5 days of life. We conducted an integrative systematic review to examine the association of mode of delivery on early neonatal weight loss. Pubmed, Cumulative Index to Nursing and Allied Health Literature, Web of Science, Excerpta Medica dataBASE, and Medical Literature Analysis and Retrieval System Online were searched for relevant papers published before June 2019. Reference lists from the relevant papers were then backwards and forwards searched. As neonatal weight loss was reported in different formats, a meta‐analysis could not be carried out. Most studies did not distinguish between elective and emergency caesarean sections or instrumental and nonassisted vaginal deliveries. Seven papers were included. All papers except one found that caesarean section was associated with higher weight loss in the early days of life. Two papers presented data from studies on babies followed up to 1 month. One study found that on day 25, babies born by caesarean section had significantly higher weight gain than those born vaginally, while another found that by day 28, babies born vaginally gained more weight per day (11.9 g/kg/day) than those born by caesarean section (10.9 g/kg/day; p = .02). Overall, infants born by caesarean section lost more weight than those born vaginally, but due to the small number of studies included, more are needed to look at this difference and why it may occur. This discrepancy in weight between the two groups may be corrected over time, but future studies will need larger sample sizes and longer follow‐up periods to examine this.