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Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins
1Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.
Insights
Congenital thalamic calcifications, often seen after brain hypoxia-ischemia in infants, were observed in one twin. This suggests an acquired condition, not an inherited one.
Area of Science:
- Neurology
- Developmental Pediatrics
- Neuroimaging
Background:
- Congenital thalamic calcifications are rare and have been reported sporadically.
- Previous understanding suggested potential genetic inheritance patterns.
Observation:
- A case of infantile encephalopathy with symmetrical thalamic calcifications is presented in one twin from a monozygous pair.
- The pregnancy was otherwise reportedly uneventful.
Findings:
- The observation supports the hypothesis that thalamic calcifications are acquired, likely due to hypoxia-ischemia in the immature brain.
- This finding strongly argues against an autosomal-recessive inheritance pattern for this condition.
Implications:
- This case contributes to understanding the etiology of congenital brain lesions.
- It highlights the importance of considering acquired causes like perinatal hypoxia-ischemia.
- Further research can refine diagnostic and prognostic approaches for affected infants.
Abstract:
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.