Neurosurgical Management of Lateral Meningocele Syndrome: A Clinical Update for the Pediatric Neurosurgeon (original) (raw)

Expansion of the phenotype of lateral meningocele syndrome

2020

Lateral meningocele syndrome (LMS) is due to specific pathogenic variants in the last exon of NOTCH3 gene. Besides the lateral meningoceles, this condition presents with dysmorphic features, short stature, congenital heart defects, and feeding difficulties. Here, we report a girl with neurosensorial hearing loss, severe gastroesophageal reflux disease, congenital heart defects, multiple renal cysts, kyphosis and left‐convex scoliosis, dysmorphic features, and mild developmental delay. Exome sequencing detected the previously unreported de novo loss‐of‐function variant in exon 33 of NOTCH3 p.(Lys2137fs). Following the identification of the gene defect, MRI of the brain and spine revealed temporal encephaloceles, inner ears anomalies, multiple spinal lateral meningoceles, and intra‐ and extra‐dural arachnoid spinal cysts. This case illustrates the power of reverse phenotyping to establish clinical diagnosis and expands the spectrum of clinical manifestations related to LMS to include ...

Cervical meningocele and associated spinal anomalies

Child's Nervous System, 1987

Simple meningoceles are infrequent forms of dysraphism and are often benign. They have been associated with other spinal anomalies. The uncommon cervical meningocele may have a higher propensity to be associated with other spinal anomalies. Four patients with cervical meningocele are presented with radiographic evaluation and clinical course. Multiple abnormalities were documented radiographically and operatively, including hydrocephalus, Chiari malformation, hydromyelia, lipomeningomyelocele, tethered cord, thickened filum terminale, diastematomyelia, Klippel-Feil syndrome, and thoracic hemivertebrae. Prior to the development of any late neurological abnormality from associated spinal anomalies, magnetic resonance imaging is recommended early in a child born with a simple meningocele.

Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype

American Journal of Medical Genetics Part A, 2005

Lateral meningoceles were first described by ; J Pediatr 90: 49-54] in a patient with other skeletal findings and distinctive craniofacial features. Subsequently, six more patients with the so-called lateral meningocele syndrome (LMS) have been reported. We describe the findings in three new cases and expand the phenotype. The existence of an affected mother and daughter supports the hypothesis that LMS is a dominant disorder affecting primarily the connective tissue.

Isolated giant intrathoracic meningocele associated with vertebral corpus deformity

Interactive cardiovascular and thoracic surgery, 2004

Published reports of intrathoracic meningocele with vertebral corpus defects in the absence of neurofibromatosis are very rare. We report a 9-year-old male with intrathoracic meningocele. We believe that vertebral corpus defects may play a certain role in the etiology of intrathoracic meningocele.

Is meningocele really an isolated lesion?

Child's Nervous System, 2001

We designed this study to elucidate the associated occult spinal lesions in patients with simple dorsal meningocele. Methods: The study population was comprised of two groups. Group I comprised newly diagnosed patients with dorsal spinal meningocele, and group II comprised patients who had had surgery for meningocele and presented with progressive neurological deficits. Magnetic resonance imaging (MRI) scans of the whole spinal column were done. The associated spinal cord malformations were also treated at the same operation. There were 14 boys and 8 girls, with an age range from birth to 4 years (mean 3.9 months), in group I. Of 20 patients (90%) with associated spinal lesions, 6 had more than one lesion, excluding hydromyelia. Group II was made up of 6 patients who had been previously operated on for a meningocele and who presented with tethered cord syndrome. These were 4 boys and 2 girls, who ranged in age from 4 to 10 years (mean 6 years). Results: The level of the conus terminalis was lower than L3 in all patients. The other findings on MRI, besides low conus, were as follows: tight filum, split cord malformation, epidermoid, dorsal lipoma and hydromyelia. Conclusions: Meningocele frequently camouflages a second, occult, spinal lesion. MRI of the whole spinal column should be performed. An intradural exploration performed with a microneurosurgical technique is needed to detect the fibrous bands that may lead to spinal cord tethering and to release the entrapped nerve roots. The other associated spinal anomalies should be operated on during the same operation.

Giant true dorsal thoracic meningocele in a school-age child

Journal of Neurosurgery: Pediatrics, 2008

✓A meningocele is a common form of spinal dysraphic lesions, but it is extremely uncommon in children in the upper thoracic region. The authors describe a rare case in which they found a giant true dorsal meningocele in the upper thoracic region in a symptomatic child, which, to their knowledge, is the first such reported case. A school-age child, who harbored a giant dorsal mass, complained of restriction of function. He underwent successful surgery in which the meningocele sac was totally removed.

Double lumbar localization of Myelomeningocele: Case report

Pediatric Neurosurgery

Introduction: myelomeningocele (MMC) is a malformation resulting from the neural tube’s failure to close during embryonic development, the majority of the cases of neural tube defects (NTDs) were prevalent as single location lesions along the spine, however multiple neural tube defects (MNTDs) are a very rare condition. Only a few cases of MNTDs were found in the literature. Case Report: we report the case of a 2-month-old male infant prenatally diagnosed with MMC, presented with two unconnected lumbar and lumbosacral epidermal, soft, dome-shaped swellings located on both sides of the midline (paravertebral) covered by intact skin. MRI revealed double myelomeningocele at the level of L4-L5, with spinal nerve roots. The patient underwent surgical repair of the defects by replacing the spinal cord and its nerve roots inside the thecal sac and recreating a covering layer around the neural structures to resemble thecal sac. The outcome was favorable, and postoperative head CT scan did n...