Neurosurgical Management of Lateral Meningocele Syndrome: A Clinical Update for the Pediatric Neurosurgeon.

Autor:	Cuoco JA; Carilion Clinic, Section of Neurosurgery, Roanoke, Virginia, USA, jacuoco@carilionclinic.org.; Virginia Tech Carilion School of Medicine, Roanoke, Virginia, USA, jacuoco@carilionclinic.org.; Virginia Tech School of Neuroscience, Blacksburg, Virginia, USA, jacuoco@carilionclinic.org.; Edward Via College of Osteopathic Medicine, Blacksburg, Virginia, USA, jacuoco@carilionclinic.org., Klein BJ; Carilion Clinic, Section of Neurosurgery, Roanoke, Virginia, USA.; Virginia Tech Carilion School of Medicine, Roanoke, Virginia, USA.; Virginia Tech School of Neuroscience, Blacksburg, Virginia, USA.; Edward Via College of Osteopathic Medicine, Blacksburg, Virginia, USA., Busch CM; Carilion Clinic, Section of Neurosurgery, Roanoke, Virginia, USA.; Virginia Tech Carilion School of Medicine, Roanoke, Virginia, USA.; Virginia Tech School of Neuroscience, Blacksburg, Virginia, USA.; Edward Via College of Osteopathic Medicine, Blacksburg, Virginia, USA., Gosnell HL; Virginia Tech Carilion School of Medicine, Roanoke, Virginia, USA., Kar A; Virginia Tech Carilion School of Medicine, Roanoke, Virginia, USA., Marvin EA; Carilion Clinic, Section of Neurosurgery, Roanoke, Virginia, USA.; Virginia Tech Carilion School of Medicine, Roanoke, Virginia, USA.; Virginia Tech School of Neuroscience, Blacksburg, Virginia, USA.; Edward Via College of Osteopathic Medicine, Blacksburg, Virginia, USA., Apfel LS; Carilion Clinic, Section of Neurosurgery, Roanoke, Virginia, USA.; Virginia Tech Carilion School of Medicine, Roanoke, Virginia, USA.; Virginia Tech School of Neuroscience, Blacksburg, Virginia, USA.; Edward Via College of Osteopathic Medicine, Blacksburg, Virginia, USA.
Jazyk:	angličtina
Zdroj:	Pediatric neurosurgery [Pediatr Neurosurg] 2020; Vol. 55 (1), pp. 2-11. Date of Electronic Publication: 2019 Dec 13.
DOI:	10.1159/000504060
Abstrakt:	Background: Lateral meningocele syndrome (LMS) is an exceedingly rare connective tissue disease with phenotypic anomalies similar to those seen in Marfan syndrome, Ehler-Danlos syndrome, and Loeys-Dietz syndrome. However, this syndrome is invariably associated with the presence of multiple lateral thoracolumbar spinal meningoceles: a distinct point of phenotypic divergence from other connective tissue disorders. The etiopathogenesis of this syndrome has recently been linked to truncating mutations within exon 33 of NOTCH3. Despite numerous reports, neurosurgical management of multiple spinal meningoceles remains poorly defined in the literature. We conducted a literature review to provide insight into the nosology, clinical significance, and neurosurgical management strategies of this distinct connective tissue disorder. Summary: Our literature search revealed 11 articles (16 cases) of LMS, which included 9 males and 7 females, belonging to 14 different families. Half of these cases underwent genetic screening: all of which were discovered to exhibit a truncating mutation within exon 33 of NOTCH3. All patients exhibited multiple lateral thoracolumbar spinal meningoceles with craniofacial dysmorphisms. Other clinical characteristics included pathologic changes in spine morphology, Chiari I malformation, syringomyelia, hydrocephalus, and tethered cord. Operative management of multiple spinal meningoceles in LMS is complicated by the presence of such coexisting structural neurologic pathologies, which may alter cerebrospinal fluid flow dynamics and, ultimately, impact operative intervention. Key Messages: LMS is an exceedingly rare connective tissue disorder with severe spinal dural involvement. Neurosurgical management of multiple spinal meningoceles is complex, which is further complicated by the presence of coexisting neuropathology, such as pathologic transformation of spine morphology and Chiari I malformation. Patients with a connective tissue disorder phenotype found to have multiple spinal meningoceles on imaging studies may benefit from evaluation by a medical geneticist and a pediatric neurosurgeon. (© 2019 S. Karger AG, Basel.)
Databáze:	MEDLINE
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