Severe myoclonic epilepsy associated with mitochondrial cytopathy

We describe a case in which severe myoclonic epilepsy of infancy is associated with a disturbance in mitochondrial function. EEG traces showed diffuse spike-wave patterns inducible by intermittent photic stimulation. Laboratory analyses revealed high lactic acid levels in cerebrospinal fluid and urine, without metabolic acidosis or high lacticacidaemia. Muscle biopsy showed a slight increase in the number of mitochondria, which had a tendency towards subsarcolemmal locations, and clefts in the myofibrillar membrane that contained granular material staining positive for oxidative enzymes and red with modified Gomori stain. Quantification of the enzymatic activities of homogenized muscle showed partial deficiency of the mitochondrial respiratory chain complexes III and IV. Severe myoclonic epilepsy associated with mitochondrial cytopathy was diagnosed, but the possibility cannot be ruled out that the myoclonic epilepsy (or perhaps simply nonspecific epileptic encephalopathy) was secondary to the mitochondrial cytopathy. Thorough diagnostic analysis in severe myoclonic epilepsy cases is called for with a view to elucidation of a possible metabolic aetiology.     

IRON RELEASE FROM THE STORES: A MECHANISM IN MAINTENANCE OF CONCENTRATION OF HEMOGLOBIN IN LOW-BIRTH-WEIGHT INFANTS

Abstract. Lundström, U. (Pediatric Hematology, Children's Hospital, University of Helsinki, Findland). Iron release from the stores: A mechanism in maintenance of concentration of hemoglobin in low-birth-weight infants. Acta Paediatr Scand, 69: 249, 1980.—After the resuming of the postnatal red cell production at two months of age infants are dependant on storage iron due to the great need for iron at a time when the iron content of the diet is low. This is even further accentuated in low-birth-weight infants. In this study the release of storage iron in the hemoglobin pool. During the two month period from two to four months of age at least 20 mg of iron per month was transferred from the storage sites for hemoglobin production. This amount represents 5 mg per kg of body weight and exceeds the rate iron was mobilized from storage sites in an adult male under experimental conditions. Rapid weight gain was associated with early depletion of iron stores. However, residual iron stores in infants with the slowest growth rate could not maintain the level of hemoglobin achieved in iron-supplemented low-birth-weight infants. These findings suggest that in rapidly growing low-birth-weight infants the need of iron for erythropoiesis is so great that iron deficient erythropoiesis may develop in the presence of iron stores if the diet is not supplemented with iron.     

JEJUNAL MUCOSA IN INFANTILE MALNUTRITION

Twenty-six infants with malnutrition and seven controls were studied by routine haematological tests, serum protein levels, glucose tolerance and D-Xylose absorption tests, jejunal biopsies and intestinal disaccharidase, assays. In conclusion, it can be said that in malnutrition the jejunal mucosa shows some mild or non-specific histologic changes compatible with malabsorption, which may be reversible. No correlation could be shown between these changes and absorption tests. Malnutrition may also result in secondary intestinal disaccharidase deficiencies which improve with correction of the nutritional state. These secondary enzyme deficiencies may be responsible for some of the diarrhoeas seen in marasmic children. No direct correlation between anaemia, iron-deficiency, folic acid levels, protein deficiency and intestinal mucosal changes could be established in this study.     

Breastfeeding and concentrations of HCB and p,p'-DDE at the age of 1 year

Exposure to organochlorine compounds (OCs) occurs both in utero and through breastfeeding. Levels of hexachlorobenzene (HCB) in the cord serum of newborns from a population located in the vicinity of an electrochemical factory in Spain are among the highest ever reported. We aimed to assess the degree of breast milk contamination in this population and the subsequent exposure of children to these chemicals through breastfeeding. A birth cohort including 92 mother-infant pairs (84% of all births in the study area) was recruited between 1997 and 1999 in five neighboring villages. OCs were measured in cord serum, colostrum, breast milk, and children's serum at 13 months of age. Concentrations of OCs were detected and quantified in all colostrum and milk samples. The concentrations in mature milk were lower than those encountered in colostrum. At 13 months of age the highest concentration of OC was found for dichlorodiphenyl dichloroethane (p,p'-DDE), in contrast to what these children presented at birth, where HCB was the highest compound. Those infants who were breastfed had higher concentrations at the age of 1 than those who were formula fed (2.13 ng/mL of HCB among formula feeders vs 4.26 among breast feeders, and 1.95 of p,p'-DDE vs 6.00 (P<0.05)). Long-term breastfeeding leads to a dose-response increase of the concentrations in children's serum during the first year of life.     

孕妇宫颈巨细胞病毒分离及其母婴传播的初步探讨

孕妇宫颈巨细胞病毒(CMV)排出率为4.12％(8/193)。宫颈排出CMV的母亲所分娩的6名婴儿中有4名受感染,其中1名从唾液和尿排出CMV长达7个月以上。从3名母亲的乳汁分离出CMV,其中1名特续存在1个月以上。3名从宫颈分泌物和乳汁排出CMV者,其婴儿均受到感染。结果表明CMV在母婴之间传播。     

Milrinone and Low Cardiac Output Following Cardiac Surgery in Infants: Is There a Direct Myocardial Effect?

We assessed the effect of milrinone on myocardial function in pediatric patients with postoperative low cardiac output syndrome by index of myocardial performance in a prospective, open-label, nonrandomized, consecutive study. Fifteen patients with low cardiac output syndrome following cardiac surgical treatment were studied in the tertiary cardiothoracic pediatric intensive care unit between April 2001 and November 2003 (age range, 0.2–16 months; median, 7; weight, 2.7–11.8 kg; median, 5). Echocardiographic, Doppler-derived, time interval-based index of myocardial performance (Tei index) was used to study cardiac function prior to and while on intravenous milrinone treatment for 18–24 hours. Treatment with milrinone led to improvement in biventricular myocardial function [mean right ventricular index from 0.521 (SD-0.213) to 0.385 (SD-0.215), p = 0.003; mean left ventricular index from 0.636 (SD-0.209) to 0.5 (SD-0.171), p = 0.012). No difference was found in the values of heart rate corrected right or left ventricular ejection time prior to and while on treatment with milrinone (right ventricle: mean, 1.23 (SD-0.42) and 1.14 (SD-0.48), p = 0.29; left ventricles: mean, 1.17 (SD-0.51) and 1.13 (SD-0.48), p = 0.66) Our data support the direct myocardial effect of milrinone as part of the mechanism behind its already proven benefit in children with low cardiac output syndrome following cardiac surgery.     

Inspiratory and expiratory CT lung density in infants and young children

Background: There is a lack of information on normal inspiratory and expiratory CT lung density in infants. Objective: To describe normal regional CT lung density at end inspiratory and end expiratory lung volumes in children ages 0–5 years. Materials and methods: Motionless HRCT images were obtained at 25 cm (inspiratory) and 0 cm (expiratory) water pressure at apical (top of arch) and basal (2 cm above diaphragm) levels in 16 sedated children (mean age 1.5 years) who underwent CT for reasons other than respiratory disease. Density was measured at anterior–posterior and medial–lateral locations at each level in each lung. The influence of level, location, and age was quantified using analysis of variance methods. Results: Lung density declined linearly in the first few years of life and thereafter approximated adult values. Beginning with the anterior–basal location, density at end inspiration (HU) = –835 – (16 × age in years) + 16 (if apical) + 33 (if posterior) + 23 (if medial) + 14 (if lateral); standard error = 38. At resting end exhalation = –616 – (41 × age) + 50 (if apical) + 155 (if posterior) + 74 (if medial) + 46 (if lateral); standard error = 68. Conclusion: We provide an initial basis for employing lung densitometry in infants and young children at end inspiration and resting end exhalation lung volumes.Supported by grants from the Radiological Society of North America and the Cystic Fibrosis Foundation     

Test-retest and inter-rater reliability for the Comprehensive Developmental Inventory for Infants and Toddlers diagnostic and screening tests

BACKGROUND: Reliability information for the Comprehensive Developmental Inventory for Infants and Toddlers diagnostic (CDIITDT) and screening tests (CDIITST) is inadequate. AIM: To assess the test-retest and inter-rater reliability of the CDIITDT and CDIITST. STUDY DESIGN: A repeated measures design was selected. SUBJECTS: Non-disabled term (n=15; mean age 8.4+/-1.6 months) and preterm infants (n=16; mean age 9.3+/-2.9 months), and children with developmental disabilities (n=15; mean age 24.7+/-11.8 months) were recruited. A single rater assessed the children twice in 3 days to examine the test-retest reliability; and a second rater observed and scored performance while the same rater conducted the first assessment for the inter-rater reliability analysis. OUTCOME MEASURES: The raw score, developmental age (DA) and developmental quotient (DQ)/Z score for the six subtests, two motor subdomains and the whole test were used as outcome measures for the CDIITDT and CDIITST. RESULTS: The test-retest reliabilities for the CDIITDT were rated good for the three pediatric groups (ICC 0.76-1.00), with the exception of moderate ratings for the self-help subtest for the term infants and for the social, self-help and fine-motor DQs for the preterm group. The CDIITDT inter-rater reliabilities were good for the three groups (ICC 0.76-1.00), with the exception of only moderate reliability for the cognitive DQs for the preterm infants. The reliabilities for the whole CDIITST for the three groups were high (ICC 0.93-1.00). CONCLUSION: The reliabilities for the whole CDIITDT and its various subtests and the whole CDIITST are acceptable for clinical use.     

Optimal exposure parameters for digital radiography of the infant skull: a pilot study

AIM: To determine optimal exposure parameters when performing digital skull radiographs in infants with suspected non-accidental injury (NAI). METHOD: Anteroposterior and lateral post-mortem skull radiographs of six consecutive infants with suspected NAI were made at six exposure levels for each projection. Entrance surface doses ranged from 75-351 microGy. Exposures were made with a Fuji 5000R computed radiography system onto a standard resolution imaging plate. In three patients exposures were repeated using a high-resolution imaging plate. Hard copy images with an edge-enhancement factor of 0.5 were produced. Six observers assessed and scored the radiographs from 1=poor to 5=excellent for visualization of five criteria. The criteria scored included outer table of skull vault, inner table of skull vault, suture margins, vascular markings and soft tissues of the scalp. Radiographs were then ranked in order of overall image quality. Film density and sensitivity values were recorded. Local research committee approval was obtained. RESULTS: Current parameters give an average entrance surface dose of 253 microGy and 246 microGy for anteroposterior and lateral radiographs, respectively. The study demonstrated no perceived improvement in image quality above an entrance surface dose of 200 microGy (80% of current dose) or by the use of a high-resolution imaging plate. CONCLUSION: The potential exists to reduce radiation exposure in infants. A study has commenced to determine the effects of dose reduction on diagnostic accuracy in suspected NAI.     

Fatal hepatic haemorrhage in a child—peliosis hepatis versus maltreatment

A 2.5-year-old boy with known myotubular myopathy (Spiro-Shy-Gonatas syndrome) and gonadorelin intake 9 months ante-mortem was found dead in his bed at home. At autopsy a ruptured subcapsular haematoma of the liver with resulting haemoperitoneum (600 ml) was found. Both lobes of the liver showed numerous circular blood foci <1 mm–2 cm in diameter. Signs of mechanical trauma such as bruising of the abdominal wall were absent. Histologically, the blood cysts were commonly connected to the sinusoids but did not have an endothelial lining and the reticular fibres showed ruptures. These pathomorphological findings are characteristic for peliosis hepatis and the cause of death was therefore determined to be exsanguination due to hepatic haemorrhage from peliosis hepatis instead of from mechanical trauma. To our knowledge this is the youngest casualty from peliosis reported so far.