Natural history of the Adams-Oliver Syndrome: A report of progressive Central and Peripheral nervous system involvement in a mother and son

Abstract

The association of aplasia cuds congenita of the scalp with terminal transverse defects of the limbs has been described in 1945 by Adams and Oliver. This predominately autosomal dominant syndrome displays a wide phenotypic variation. Limb and cranial malformations may be associated with cutis mamorata and tortuous dilated scalp veins. Up to 20% of these patients have associated cardiovascular malformations. A variety of brain and cranial malformations have been reported in AOS and dysplasia of the cerebral cortex has been only recently reported in one case. We report on a 27 year old man who was diagnosed by us (NS) at the age of 3 years with typical findings of AOS. At that time, his mother was found to have only subtle distal phalangeal hypoplasia. A maternal aunt and her daughter were more typically affected. Our patient was a physically active young child. Cognitive evaluation at school age revealed borderline to mild mental retardation. He attended school through his late teens and worked until the age of 24 years. He then experienced progressive asymmetrical spastic weakness making him wheelchair dependent and developed dysphasia to the point that his speech became unintelligible. At his most recent admission to the hospital he exhibited severe spasticity in the legs and weakness in the arms involving the left side more than the right side. Vocal cord motion was normal, but swallowing was poorly coordinated with weak lingual, buccal and pharyngeal motion. Brain MRI showed pronounced asymmetrical cerebral atrophy and asymmetrical cerebral hypoplasia. His mother's recent examination revealed dysarthrta. weakness with wheelchair dependence and mild spasticity, which she experienced over a 10 year interval. Her brain MRI revealed very similar findings to those described in her son. Additional results of studies done on both patients will be presented as well as a review of the literature.