ABSTRACT
UNLABELLED: Abstract Despite cytomegalovirus being the most common congenital infection leading to psychomotor impairment and sensori-neural hearing loss, little is known about early identification and management of congenitally infected neonates. This article reviews the literature and devises an algorithm for identification and management of these neonates. CONCLUSION: Application of the current knowledge in the management of congenital cytomegalovirus infected neonates could be beneficial, until further evidence is available.
Subject(s)
Cytomegalovirus Infections/diagnosis , Cytomegalovirus Infections/drug therapy , Neonatal Screening/methods , Cytomegalovirus Infections/congenital , Cytomegalovirus Infections/prevention & control , Evidence-Based Medicine , Female , Humans , Infant, Newborn , Infectious Disease Transmission, Vertical/prevention & control , Pregnancy , Prenatal DiagnosisABSTRACT
BACKGROUND AND OBJECTIVE: Subependymal pseudocysts and choroid plexus cysts are seen in newborns on cerebral ultrasound. Clinicians are unsure whether these findings are related to an underlying disease which affects long-term outcome and requires medical intervention. In an attempt to establish the diagnostic value of cystic lesions on cerebral ultrasound and guide clinical management we searched the medical literature and performed a meta-analysis. METHODS: We performed a systematic literature review and summarised the data on the value of subependymal pseudocysts or choroid plexus cysts for the diagnosis of chromosomal anomalies or congenital infections. Sensitivity, specificity, predictive values and likelihood ratios were calculated for single, multiple, unilateral and bilateral cysts. RESULTS: 305 patients with cystic lesions were retrieved. Bilateral cysts, irrespective of their number, had a sensitivity of 88% and negative predictive value of 94% for a congenital infection or genetic disorder. Unilateral single cysts had a specificity of 92% for normal microbiological and genetic results. Bilateral multiple subependymal pseudocysts or choroid plexus cysts had a positive likelihood ratio of 9.1 for a chromosomal anomaly or congenital infection. Unilateral cysts had a negative likelihood ratio of 0.2 for a congenital infection or chromosomal anomaly. There was a chance of 1 in 4-5 for a congenital infection or chromosomal anomaly if bilateral multiple subependymal pseudocysts or choroid plexus cysts were found. CONCLUSIONS: Bilateral multiple subependymal pseudocysts or choroid plexus cysts suggest an underlying disease. Further investigations should be undertaken even if the patient is otherwise normal. Parents of well newborns with a single cyst should be reassured.
Subject(s)
Brain Diseases/diagnostic imaging , Choroid Plexus/diagnostic imaging , Chromosome Disorders/diagnosis , Cysts/diagnostic imaging , Infections/diagnosis , Brain Diseases/congenital , Choroid Plexus/abnormalities , Cysts/congenital , Humans , Infant, Newborn , Infections/congenital , Sensitivity and Specificity , UltrasonographyABSTRACT
BACKGROUND: Congenital hyperinsulinism is the most common cause for recurrent hypoglycaemia in neonates and infants. Uncontrolled hypoglycaemia leads to seizures and long-term cerebral damage. Often, the diagnosis is delayed because of nonspecific symptoms and confusing laboratory results. PATIENT: We report a patient with hyperinsulinism who was initially wrongly diagnosed as having idiopathic cerebral convulsions and treated accordingly. CONCLUSIONS: Diagnosis of congenital hyperinsulinism is based on a strong suspicion and a thorough family history. Normal random blood glucose or random insulin levels are not helpful in excluding this disease.
Subject(s)
Epilepsies, Partial/diagnosis , Hyperinsulinism/diagnosis , Hyperinsulinism/genetics , Hypoglycemia/diagnosis , Hypoglycemia/genetics , Diagnostic Errors , Diazoxide/therapeutic use , Dominance, Cerebral/physiology , Female , Glutamate Dehydrogenase/deficiency , Humans , Hyperinsulinism/drug therapy , InfantABSTRACT
The aim of this article is to compare total parenteral nutrition (TPN) with oral medium-chain triglycerides-diets (MCT) in the management of spontaneous congenital chylothorax. We analyzed retrospectively the charts of 6 patients seen in our tertiary care center and of 11 comparable patients from the literature. All neonates were symptomatic at birth; 15 had bilateral chylothorax. In the neonates who received mainly TPN (n = 9), the chylothorax resolved significantly (p < 0.05) earlier (mean 10 days, SE 1) than in the others, who received mainly MCT (n = 8) (mean 23 days, SE 4). The mean chyle loss was not significantly different between the 2 groups. Our results suggest that TPN is more effective than oral MCT in the treatment of spontaneous congenital chylothorax. These results support the data of Peitersen et al, who reported that most of the positive results with MCT were achieved in postoperative chylothorax of the newborn.
