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Adams-Oliver syndrome with unusual central nervous system alterations
1Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Insights
Adams-Oliver syndrome, a condition linking scalp defects with limb malformations, can present with intracranial calcifications. This case highlights a rare association without evidence of intrauterine infection.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Neurology
Background:
- Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita of the scalp and distal limb malformations.
- Associated anomalies may include palatine or auricular malformations, cardiovascular issues, and spina bifida.
- AOS exhibits diverse inheritance patterns, including familial and sporadic cases.
Observation:
- This report details an infant diagnosed with Adams-Oliver syndrome.
- The infant presented with significant intracranial calcifications.
- No evidence of intrauterine infection was detected in this case.
Findings:
- The primary finding is the association of Adams-Oliver syndrome with intracranial calcifications.
- This specific combination is not widely documented in existing literature.
- The absence of intrauterine infection suggests a non-infectious etiology for the observed calcifications.
Implications:
- This case expands the known phenotypic spectrum of Adams-Oliver syndrome.
- It suggests that intracranial calcifications should be considered in the evaluation of infants with AOS.
- Further research is warranted to elucidate the mechanisms underlying this association and its genetic underpinnings.
Abstract:
The association of aplasia cutis congenita of the scalp with distal malformations of the limbs is known as Adams-Oliver syndrome. Other reported associations include palatine or auricular malformations, cardiovascular alterations, and spina bifida. Multiple hereditary patterns have been described for this condition, and sporadic cases have also been reported. We report an infant with Adams-Oliver syndrome associated with intracranial calcifications in whom no evidence of intrauterine infection could be demonstrated.