Novel neurodevelopmental disorder in the case of a giant occipitoparietal meningoencephalocele

Case report

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Giant occipitoparietal encephaloceles are rare forms of neurodevelopmental defects whose etiologies remain uncertain. Their occurrence can lead to variable neurological outcomes depending on the extent of cerebral cortex involved and the ability to repair the defect. In addition, encephaloceles may be associated with various genetic syndromes and familial inheritance. Here, the authors describe a unique constellation of malformations associated with the case of a giant occipitoparietal meningoencephalocele with herniation of cortical tissue and continuity with the ventricular system. The patient had a cleft lip and palate, hemivertebrae of the thoracic spine, a patent ductus arteriosus, a ventricular septal defect, and coarctation of the aorta. To identify the genetic underpinnings of these malformations, fluorescence in situ hybridization and microarray analysis were performed and revealed an 80.65-kb gain within chromosome band 2p11.2. Duplications of this region involving RMND5A, whose product contains a C-terminal to lis homology (LisH) domain, have not previously been associated with a defined phenotype but may present insight into encephalocele formation. Surgical repair and follow-up for the neurological malformations are also discussed.

Abbreviations used in this paper:FCMD = Fukuyama congenital muscular dystrophy; KNO = Knobloch syndrome; LisH = lis homology; MDDGA = muscular dystrophy-dystroglycanopathy; OMIM = Online Mendelian Inheritance in Man; PDA = patent ductus arteriosus; VSD = ventricular septal defect; WWS = Walker-Warburg syndrome.

Article Information

Address correspondence to: Alan R. Cohen, M.D., Department of Neurosurgery, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115. email: alan.cohen@childrens.harvard.edu.

Please include this information when citing this paper: published online June 8, 2012; DOI: 10.3171/2012.3.PEDS11559.

© AANS, except where prohibited by US copyright law.

Headings

Figures

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    A: Chromosome map revealing a normal 46,XY karyotype for the patient. B: Preoperative photograph revealing a large occipitoparietal meningoencephalocele with deformity of the cranium. C: Photograph of transillumination of the meningoencephalocele with a flashlight, revealing a CSF-filled cavity. Note the presence of dilated scalp veins given the abnormal intracranial venous drainage.

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    A: Sagittal T1-weighted MR image of the meningoencephalocele revealing the presence of cortical tissue in the defect. There is continuity of the large herniation with the ventricular system. B: Axial T1-weighted MR image revealing the posterior horn of the left lateral ventricle (v) and the meningoencephalocele (e). Note the presence of cortical tissue in the defect (arrowhead). C: Axial noncontrast head CT revealing a meningoencephalocele. Note the presence of bone that circumferentially surrounded the defect (asterisk). D: Magnetic resonance venogram revealing the abnormal cranial venous system. The absence of the straight sinus is notable (arrow).

  • View in gallery

    A: Intraoperative photograph revealing the internal contents of the meningoencephalocele once it was deflated and CSF was removed. The underlying cortex is visible, and the herniated tissue was allowed to fall back into the cranial vault. There were no large draining venous sinuses, and there was an incomplete falx cerebri. B: Postoperative sagittal T1-weighted MR image revealing the successful repair of the encephalocele (arrow). Note the abnormal appearance of the remaining cortex. C: Six-month postoperative 3D CT scan with reconstruction of the cranial vault showing a smaller defect with bone growth underlying the repair and adequate cranial vault contour. D: Location on chromosome 2p11.2 where the 80.65-kb duplication was identified. Two known genes are found in this area: RMND5A and CD8A.

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