Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation. An associated neuromuscular phenotype has not previously been described in detail. We report on an infant with clinical features suggestive of Vici syndrome and additional sensorineural hearing loss. Muscle biopsy revealed several changes including markedly increased variability in fiber size, increased internal nuclei, and abnormalities on Gomori trichrome and oxidative stains, raising a wide differential diagnosis including neurogenic atrophy, centronuclear myopathy (CNM) or a metabolic (mitochondrial) cytopathy. Respiratory chain enzyme studies, however, were normal and sequencing of common CNM-associated genes did not reveal any mutations. This case expands the clinical spectrum of Vici syndrome and indicates that muscle biopsy ought to be considered in infants presenting with suggestive clinical features. In addition, we suggest that Vici syndrome is considered in the differential diagnosis of infants presenting with congenital callosal agenesis and that additional investigation has to address the possibility of associated ocular, auditory, cardiac, and immunologic involvement when this radiologic finding is present.
SUMMARY Two hundred infants of below 1501 g at birth were regularly examined with real time ultrasound using a 7*5 MHz transducer. Abnormalities were catagorised as periventricular haemorrhage (PVH) (n=107) or periventricular leucomalacia (PVL), with or without PVH (n=52). Of the group with PVL, 25 had the appearances of prolonged flare without cavitation. Prospective assessments of up to 50 potential clinical risk factors were made wherever possible on each infant including stratification of all blood gas and systolic blood pressure data. Multivariate logistic regression analyses confirmed a strong correlation between immaturity and PVH but this was not found in cases of PVL. Independent variables associated with PVL included pneumothorax, maximum bilirubin concentration, surgery, and the proportion of time the infant's PaCO2 remained above 7 kPa. There was a very strong inverse correlation between anaemia and PVL. Systolic blood pressure data were carefully analysed and there was no relation between either hypotension or antepartum haemorrhage and the development of PVL.
SUMMARY The brains of 30 infants who died after at least one real time ultrasound scan were examined after fixation. The ultrasound diagnosis of either periventricular haemorrhage or periventricular leucomalacia was compared with the macroscopic and histological appearances. Each hemisphere was considered separately for both periventricular haemorrhage and periventricular leucomalacia. The accuracy of ultrasound diagnosis for periventricular haemorrhage was 88%, with sensitivity of 91% and specificity of 85%. The accuracy for periventricular leucomalacia was 90%, with sensitivity of 85% and specificity of 93%. Ultrasound was shown to diagnose the entire range of periventricular leucomalacia lesions. Three hemispheres showed the appearance of prolonged flare, and this correlated with extensive spongiosis and microcalcification of the periventricular white matter, although no macroscopic lesion was seen.
SUMMARY Two hundred very low birthweight infants were prospectively scanned to ascertain the incidence of periventricular leucomalacia (PVL) whom had associated parenchymal-lesions. Haemorrhage, PVL, and flare occurred commonly in infants of 30 weeks' gestation and below and became markedly less common in more mature infants. We believe prolonged flare represents a form of PVL, and in this study a total of 52 (26%) infants had an ultrasound appearance of periventricular leucomalacia, an incidence considerably higher than previously reported.
SUMMARY The ophthalmic findings in 127 very low‐birthweight infants seen at a mean corrected age of 7.6 months (range one to 15 months) are presented and related to their neonatal findings on cerebral ultrasound scanning and eye examinations for retinopathy of prematurity. 19 infants (15 per cent) had significant ophthalmic abnormalities, including reduced visual acuity (11), squints (13), disorders of supranuclear eye‐movement (three) and retinal abnormalities (eight). A strong association was found between cystic periventricular leukomalacia and ophthalmic morbidity. RÉSUMÉ Données ophtalmologiques chez les nourrissons de très faible poids de naissance L'article rapporte les données ophtalmologiques recueillies chez 127 nourrissons de très faible poids de naissance examinés à l'âge corrigé moyen de 7,6 mois (entre un et quinze mois), et reliées aux donées neo‐natales de l'échographie cérébrale et des examens de l'oeil pour rétinopathie de prématurité. 19 nourrissons (15 pour cent) présentaient des anomalies ophtalmologiques caractéristiques, incluant une baisse de l'acuité visuelle (11), un strabisme (13), des troubles des mouvements oculaires supra‐nucléaires (trois) et des anomalies rétiniennes (huit). Une forte corrélation a été notée entre la leucomalacie kystique périventriculaire et la morbidité ophtalmologique. ZUSAMMENFASSUNG Ophthalmologische Befunde bei Säuglingen mit sehr niedrigem Geburtsgewicht Es werden die ophthalmologischen Befunde von 127 Säuglingen mit sehr niedrigem Geburtsgewicht, die im korrigierten Alter von 7.6 Monaten (Bereich ein bis 15 Monate) untersucht wurden, vorgestellt und mit den Befunden aus der Neonatalperiode (Ultraschall des Kopfes und Augenuntersuchungen auf Retinopathie des Frügeborenen) verglichen. 19 Säuglinge (15 Prozent) hatten signifikante ophthalmologische Befunde: verminderte Sehschärfe (11), Schielen (13), Störungen der supranukleären Augenbewegungen (drei) und Veränderungen der Retina (acht). Es fand sich eine starke Beziehung zwischen der cystischen periventrikulären Leukomalazie und Augenerkrankungen. RESUMEN Hallazgos oftálmicos en lactantes con muy bajo peso al nacer Se presentan los hallazgos oftalmológicos en 127 lactantes con muy bajo peso al nacer, vistos a una edad corregida media de 7.6 meses (promedio 15 meses) y se retacionan con hallazgos neonatales obtenidos con ultrasonidos y examen ocular en busca de retinopatia por prematuridad. 19 niños (15 por ciento) tenian anomalias oftálmicas significativas, incluyendo una reducción en la agudeza visual (11), estrabismos (13), alteraciones en los movimientos oculares supranucleares (tres) y anomalias retinianas (ocho). Se halló una fuerte asociacion entre la leucomalacia periventricular quistica y la morbilidad of tálmica.
SUMMARY Sugar intolerance occurred in 31 of 200 children admitted to hospital with acute gastroenteritis. In 28 this was transient and settled rapidly, but in the remaining three it indicated a more serious and persistent problem. The most important predisposing factor was viral infection, in particular with rotavirus. The current regimen for the management of sugar intolerance complicating acute gastroenteritis at this hospital is outlined.A prospective study of delayed recovery after acute gastroenteritis in childhood was undertaken in the gastroenteritis unit at this hospital in 1973.1 Seventy four children out of a total of 348 (21.2%) admitted with acute gastroenteritis were found to have delayed recovery. One of the three categories of delayed recovery described was disaccharide intolerance, implying watery diarrhoea with excess stool reducing sugars. Disaccharide intolerance was diagnosed in 38 children (10.9%) and it was found that a number of factors predisposed to this complication. These were age less than 2 months, male sex, Asian origin, weight below the 3rd centile, and bottle feeding.Since that time there have been important advances in our knowledge of the aetiology of gastroenteritis, and also changes in infant feeding practice. It is now possible to identify a variety of stool viruses by electron microscopy, and bottle fed infants have been changed from high solute cows' milk feeds to low solute milks. This change has already had a notable effect on the clinical manifestations of acute gastroenteritis, for example a virtual disappearance of severe hypernatraemia.2We have undertaken a further, prospective study of sugar intolerance complicating acute gastroenteritis, have related this to aetiology in a manner not possible in the earlier study, and have reviewed those factors predisposing to this condition. Patients and methodsTwo hundred consecutive children admitted to this hospital with acute gastroenteritis were studied prospectively using a computer programme. Details of age, sex, ethnic origin, nutrition, mode of feeding, and management were collected, as well as stool pathogens. Most children were managed with an oral glucose electrolyte preparation for 24 hours, and then their appropriate milk and solid food (if applicable) were reintroduced over a period of four days. Those who were 5% or more dehydrated were treated with intravenous fluids, then oral glucose electrolyte mixture followed by reintroduction of normal feeding. If diarrhoea recurred or persisted on this oral regimen and the stools were watery, the watery portion of the stool was tested with Clinitest tablets.3 If 0 5% or more reducing substances was found, the clinical diagnosis of sugar intolerance was made. The diagnosis was disaccharide (lactose) intolerance if this occurred while the
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