Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins.
Connatal thalamic calcifications in apparently uneventful pregnancies have been described in various case reports and in a single report in two sibs. On the other hand, this lesion is known to occur after a hypoxic-ischemic accident in the immature brain. In the present report infantile encephalopathy with symmetrical thalamic calcifications is observed in one sib of a monozygous twin pair. This observation adds to the evidence that the condition is acquired, most probably on the basis of hypoxia-ischemia, and provides strong evidence against autosomal-recessive inheritance.
van der Knaap
M S
MS
Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.
Barth
P G
PG
D002114:Calcinosis / Q000151:congenital / Q000209:etiology*; D002543:Cerebral Hemorrhage / Q000151:congenital / Q000209:etiology; D003937:Diagnosis, Differential; D004200:Diseases in Twins / Q000209:etiology*; D017809:Fatal Outcome; D005311:Fetal Hypoxia / Q000150:complications* / Q000175:diagnosis; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D008831:Microcephaly / Q000209:etiology; D009122:Muscle Hypertonia / Q000209:etiology; D013788:Thalamus / Q000002:abnormalities*; D014430:Twins, Monozygotic