Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

Summary Background: To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300). Material/Methods: Brain MRI and MR angiography were performed at 1.5T. Results: The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts. Conclusions: Abnormalities of CNS are an unusual manifestation of AOS. To our knowledge, this is the first report of cerebellar cortical dysplasia in a family with AOS. Key words: Adams Oliver syndrome • cerebellar cysts • cerebellar cortical dysplasia • MRI Abbrevations: – Adams Oliver syndrome; FCMD – Fukuyama congenital muscular dystrophy; AOS ABS – Amniotic Band syndrome (ABS) PDF file: http://www.polradiol.com/download/index/idArt/889531 Received: 2013.07.05 Accepted: 2013.09.02 Background AOS is a rare condition which involves skin, limbs, cardi-ovascular system and CNS. It is mainly characterized by aplasia cutis, marmorata telangiectatica congenita and/or bony defects of the underlying skull, associated with vari-ous degree of terminal limb defects.It was initially described as having an autosomal dominant inheritance with marked variability in expression and lack of penetrance in some cases. However, there are familiar cases suggesting an autosomal recessive inheritance; spo-radic cases are also reported [1–7].CNS abnormalities are more commonly seen in those cases where an autosomal recessive pattern of inheritance is reported (severe variant of AOS) [1,5].Aplasia cutis congenita is typical of AOS [1–4,6,8,9]. It con-sists of a congenital absence of skin, usually located over the parietal scalp, although it can be located anywhere in the body. The defect may be limited to the epidermis but it can frequently involve the underlying bone too. Dilated scalp veins are also frequently evident [5,10], as in our patients. In infancy, calvarial defects can be unapparent, presenting simply as an enlarged anterior fontanelle [5].Cutis marmorata telangiectatica, skin showing livid red-dish macular areas (this concerns the upper dermal vascu-lar plexus) and peripheral venous incontinence, have also been reported.Abnormalities of limbs often include terminal transverse defects, such as: short fingers, small toenails, syndactyly, truncation defects affecting the distal phalanges or entire fingers [3,4,6,9]. Metatarsals/metacarpals or more proximal limb structures are only rarely affected [3].Cardiovascular system can also be involved in AOS in 13.4% of patients [3,11].Encephalocele, acrania, abnormal cerebral vasculature, microcephaly, arhinencephaly, pons and medulla hypo-plasia, partial agenesis of the corpus callosum, intracranial