ABSTRACT
We report three children, all younger than 2 years of age, presenting with cerebellar atrophy related to carbohydrate-deficient glycoprotein syndrome type 1, an autosomal recessive metabolic disease. One patient had multisystem disease; two others had mental retardation with ataxia. In all cases the cerebellar atrophy was diagnosed on magnetic resonance imaging and, in one case, confirmed by autopsy. The cerebellar atrophy predominantly affected the anterior lobe. Vertical orientation of the tentorium cerebelli from the neonatal period in two cases suggests antenatal onset of the disease. Biological tests confirmed the diagnosis in all cases.
Subject(s)
Cerebellar Diseases/diagnosis , Cerebellum/pathology , Congenital Disorders of Glycosylation/diagnosis , Atrophy/diagnosis , Cerebellar Diseases/etiology , Congenital Disorders of Glycosylation/complications , Diagnosis, Differential , Fatal Outcome , Follow-Up Studies , Humans , Infant, Newborn , Magnetic Resonance Imaging , MaleABSTRACT
PURPOSE: The aim of this study was to describe radiological features of herpes simplex virus 1 encephalitis, rarely reported in children. PATIENTS AND METHODS: We analyzed imaging findings in 10 children with biologically proven herpes simples virus 1 encephalitis. RESULTS: Eight CT scans were performed before the second day of the clinical course, 6 CT and 6 MRI were performed after day 4. The initial CT scan was normal in half of the cases. Low densities and hemorrhagic lesions were seen in almost half of the cases. There was no abnormal contrast enhancement in this series. DISCUSSION: After 4 days of infection, hemorrhagic lesions were seen in all cases. Unilateral thalamic involvement was observed in half of the children, in correlation with clinical recurrence of encephalitis. The diagnostic, histological and therapeutic significance of these thalamic involvements remains to be elucidated.
