Case Report
Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype
Table 1
Central nervous features associated with BWS.
| Study | Worth et al. [9] | Yamada et al. [10] | Tubbs and Oakes [11] | Russo et al. [12] | Broekman et al. [13] | Kent et al. [14] | Bui et al. [15] | Gardiner et al. [16] | This report | Year | 1999 | 1999 | 2005 | 2006 | 2008 | 2008 | 2009 | 2012 | 2014 |
| Brain abnormalities | | | | | | | | | | Abnormal cerebellar vermis | — | — | — | +* | — | — | — | — | — | Arteriovenous malformations | — | + | — | — | — | — | — | — | — | Blake’s pouch cyst | — | — | — | — | — | — | — | 2/7 | — | Chiari malformation | — | — | + | — | — | — | — | — | — | Dandy-Walker malformation | — | — | — | — | — | — | — | 3/7 | — | Dandy-Walker variant | — | — | — | — | — | — | — | 4/7 | — | Encephalocele (nasal) | — | — | — | — | + | — | — | — | — | Hydrocephalus | — | — | — | — | — | + | — | — | — | Posterior fossa structures abnormalities | — | — | — | — | — | — | + | — | — | Schizencephaly | + | — | — | — | — | — | — | — | — | Meningocele | — | — | — | — | — | — | — | — | + |
|
|
In this case, the associated terminal deletion of chromosome 4p may possibly explain the central nervous system malformation.
|