Related Experiment Videos
[Lesions of the central nervous system in Adams-Oliver's syndrome]
1Serviços de Imagiologia e Neurocirurgia do Hospital D. Estefânia, Lisboa.
Insights
Adams-Oliver syndrome presents with aplasia cutis congenita and limb defects. Central nervous system malformations significantly alter the prognosis in affected children.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Neurology
- Dermatology
Background:
- Adams-Oliver syndrome is a rare genetic disorder.
- It is characterized by congenital scalp defects (aplasia cutis congenita) and terminal limb abnormalities.
Observation:
- Two cases of Adams-Oliver syndrome in 2-year-old children are presented.
- Both presented with aplasia cutis congenita and limb malformations, with extensive skull defects noted at birth.
- Significant variations in lesion severity and associated central nervous system (CNS) malformations were observed.
Findings:
- One child exhibited focal hemimegalencephaly.
- The other developed encephaloclastic cerebral lesions and encephalic herniation.
- Both patients survived, but CNS involvement drastically modified the prognosis.
Implications:
- Early diagnosis and monitoring of CNS complications are crucial for Adams-Oliver syndrome.
- The spectrum of CNS involvement highlights the need for tailored management strategies.
- Understanding these variations is key to improving long-term outcomes for affected children.
Abstract:
The authors report two cases of Adams-Oliver syndrome in 2-year-old children characterized by aplasia cutis congenita and terminal congenital abnormalities of the limbs. The diagnosis was made at birth and the aplasia cutis was associated with extensive skull defects, exposing the dural sinuses. The differences between the two patients were essentially the extension and the severity of the scalp and limb osteo-cutaneous lesions, associated malformations of the central nervous system and complications. In one child we found focal hemimegalencephaly of the right hemisphere and in the other one the syndrome was complicated by encephaloclastic cerebral lesions and encephalic herniation. Both children have survived, but the diagnosis of central nervous system malformations and the encephaloclastic lesions associated modified the initial prognosis and the future outcome conspicuously.