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Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype
T A Briggs1, N I Wolf, S D'Arrigo
1Department of Clinical Genetics, St James's University Hospital, Leeds, UK.
Abstract:
The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients-two male-female sibling pairs, one pair born to consanguineous parents, and an unrelated female-with a distinct pattern of band-like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post-natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable "pseudo-TORCH" phenotype inherited as an autosomal recessive trait.
Insights
This study identifies a rare genetic disorder causing severe microcephaly, seizures, and developmental issues, characterized by specific brain calcifications and polymicrogyria. The condition appears to be inherited, presenting a distinct "pseudo-TORCH" phenotype.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Intracranial calcification and polymicrogyria are typically linked to intrauterine infections like cytomegalovirus.
- Familial cases are rare, suggesting potential genetic underpinnings.
Observation:
- Five patients presented with a unique pattern of band-like intracranial calcification and polymicrogyria.
- Associated clinical features included severe microcephaly, intractable seizures, and profound developmental delay.
Findings:
- Infectious etiology was ruled out in all patients.
- The observed phenotype suggests a distinct, likely autosomal recessive, genetic disorder.
- This condition represents a recognizable inherited "pseudo-TORCH" syndrome.
Implications:
- Highlights a novel genetic cause for severe neurodevelopmental abnormalities.
- Facilitates genetic counseling and diagnosis for families with similar presentations.
- Expands understanding of the genetic basis of brain malformations.
