ABSTRACT
INTRODUCTION: Aicardi-Goutières syndrome is an early onset autosomal recessive progressive encephalopathy, clinically characterized by acquired microcephaly, severe psychomotor delay and involvement of pyramidal and extrapyramidal tracts. Intracranial calcifications, especially at the level of the basal ganglia, white matter abnormalities, lymphocytosis and raised interferon (IFN)-alpha in blood and cerebrospinal fluid (CSF) form part of this syndrome. CASES REPORTS: We describe two unrelated infants (a 3-month-old boy and an 11-month-old girl) who both presented with hypotonia, microcephaly, and psychomotor delay. Mild choreic and dystonic movements, as well as progressive spasticity, were also observed in the girl. Extensive investigations revealed intracranial calcifications, mild CSF lymphocytosis in the boy, and raised IFN-a in blood and CSF in both patients. COMMENTS: Aicardi-Goutières syndrome should be kept in mind when investigating microcephalic and retarded patients with cerebral calcifications initially suggestive of TORCH infection. Appropriate genetic counseling should be provided.
Subject(s)
Brain Diseases/diagnosis , Calcinosis/diagnosis , Microcephaly/diagnosis , Psychomotor Disorders/diagnosis , Spinal Cord Diseases/diagnosis , Brain Diseases/genetics , Extrapyramidal Tracts , Female , Humans , Infant , Male , Pyramidal Tracts , SyndromeABSTRACT
OBJECTIVE: Rotavirus (RV) remains as the leading cause of acute diarrheal disease in early infancy; nevertheless, there are few epidemiological studies in our geographical area. In order to better understand the clinical epidemiology of RV, we have carried out a revision of acute diarrheal illnesses in the area of Santiago de Compostela (Spain) in children younger than 2 years of age who needed hospitalization during a 12 month period. PATIENTS AND METHODS: In 155 children with suspected gastroenteritis, 339 stool samples were collected and separated into two groups depending upon the presence or not of RV antigen. RESULTS: In the group of RV-positive stool patients, the occurrence of vomiting, fever, need of intravenous fluid rehydration (p = 0.01), respiratory symptoms (p < 0.01), the incidence during winter, as well as the development of disaccharidase depression (p < 0.001), were more frequent as compared with the group of children of similar age who did not present RV in faeces. There was no difference between the two groups regarding the presence of other potential enteropathogen agents (p > 0.05). The incidence of RV-positive faeces per 100 hospitalized infants/year was 10.5 and that of infants with RV diarrhea who needed hospitalization was 5.5%/ year. CONCLUSIONS: There was no mortality related with gastroenteritis, but RV-infection remains an important cause of morbidity and socioeconomic burden. Nosocomially acquired hospital infections add to morbidity and the cost of hospitalization.
