2013
DOI: 10.12659/pjr.889531
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Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

Abstract: SummaryBackgroundTo describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300).Material/MethodsBrain MRI and MR angiography were performed at 1.5T.ResultsThe siblings presented cerebellar cortex dysplasia characterized by the presence of cysts.ConclusionsAbnormalities 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.

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Cited by 6 publications
(3 citation statements)
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“…Given that the parieto-ocipital and temporobasal grey-white matter junction are watershed areas (border zones between the vascular territories of the medial cerebral artery and posterior cerebral artery) maybe these lesions are secondary to congenital watershed infarctions as a further indication of vascular intrauterine disruption in AOS. Dysplasia of the cerebellar cortex with cysts was described by D'Amico et al 7 with a similar appearance to our patient, although no supratentorial lesions were described. Finally, Stittrich et al 8 reported multiple cases of AOS including a patient with various infarcts in paramedian parietal and parieto-ocipital locations, however, in that case a superior sagittal sinus thrombosis was detected.…”
Section: Discussionsupporting
confidence: 89%
“…Given that the parieto-ocipital and temporobasal grey-white matter junction are watershed areas (border zones between the vascular territories of the medial cerebral artery and posterior cerebral artery) maybe these lesions are secondary to congenital watershed infarctions as a further indication of vascular intrauterine disruption in AOS. Dysplasia of the cerebellar cortex with cysts was described by D'Amico et al 7 with a similar appearance to our patient, although no supratentorial lesions were described. Finally, Stittrich et al 8 reported multiple cases of AOS including a patient with various infarcts in paramedian parietal and parieto-ocipital locations, however, in that case a superior sagittal sinus thrombosis was detected.…”
Section: Discussionsupporting
confidence: 89%
“…Type 3 GTPVS seem to be more likely to cause clinical manifestations in at least 75.0% of patients because their location can cause noncommunicating hydrocephalus, which occurs slowly over a long period of time by compression of the cerebral aqueduct or third ventricle and/or symptoms due to local mass effect on the mesencephalon [1,7,9,10]. In the literature, only six patients are reported to have a GTPVS in the posterior fossa, a notable finding which may therefore be considered an atypical location; mostly, in these cases, it is mandatory to acquire post-gadolinium injection T1w images to exclude the presence of cystic neoplastic and non-neoplastic lesions [1,21].…”
Section: Discussionmentioning
confidence: 99%
“…[ 5 13 ] Small parenchymal cyst-like lesions and dysplasia of cerebellar cortex have also been reported in this syndrome. [ 14 ] Hypoplastic midline structure of the CNS can lead to partial growth hormone deficiency and short stature. [ 7 ] In addition to chronic subdural collection under the areas of bone defect, we noted mild pachygyria in neuroimaging of our patient.…”
Section: Discussionmentioning
confidence: 99%