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Journal of Neurology, Neurosurgery, and... Apr 1969
Topics: Adult; Female; Humans; Meningocele; Myelography; Pain; Spinal Cord Diseases
PubMed: 5783286
DOI: 10.1136/jnnp.32.2.111 -
American Journal of Medical Genetics.... May 2020Lateral meningocele syndrome (LMS) is due to specific pathogenic variants in the last exon of NOTCH3 gene. Besides the lateral meningoceles, this condition presents with...
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 inner ear abnormalities and multi-cystic kidney disease.
Topics: Abnormalities, Multiple; Brain; Exons; Female; Genetic Predisposition to Disease; Heart Defects, Congenital; Humans; Magnetic Resonance Imaging; Meningocele; Phenotype; Receptor, Notch3; Spine; Exome Sequencing
PubMed: 32141180
DOI: 10.1002/ajmg.a.61536 -
World Neurosurgery Dec 2019Meningocele manqué (MM) is characterized by tethering of the spinal cord, nerve roots, or filum terminale by fibrous attachments formed by atrophic or incomplete...
BACKGROUND
Meningocele manqué (MM) is characterized by tethering of the spinal cord, nerve roots, or filum terminale by fibrous attachments formed by atrophic or incomplete meningoceles. Patients with MM can present with symptoms of tethered cord syndrome (TCS).
CASE DESCRIPTION
We present the case of an MM discovered incidentally during microsurgical resection of filum terminale for occult TCS. The MM was not visible on the preoperative magnetic resonance imaging (MRI) studies. After L2-L3 laminotomy, an extradural mass was appreciated adherent to the spinal dura, which was found to be an MM. The nerve roots of the cauda equina were found to protrude through the dura, consistent with tethered cauda equina. After microsurgical resection of the filum terminale, the tethered cauda nerve roots were stimulated, and redundant electromyographic signals were detected at both the left- and the right-sided muscles of the lower extremities. Microsurgical repair of the MM was performed, assuming that the patient's symptoms of TCS would also be explained by the MM and that her symptoms would likely have been incompletely addressed by filum terminale release alone. A review of the preoperative 3-dimensional constructive interference in steady state MRI sequence revealed pathological features at the L2-L3 level suspicious for our intraoperative findings of an MM.
CONCLUSIONS
Surgeons planning filum terminale release for occult TCS should always be aware of the possibility of associated pathological features of tethering that might be overlooked. In retrospect, the detection of MM was enabled by the high-resolution 3-dimensional constructive interference in steady state MRI sequence. This finding advocates for the use of high-resolution MRI for patients undergoing evaluation for occult TCS to detect pathological features that might otherwise be undetected.
Topics: Adult; Cauda Equina; Female; Humans; Imaging, Three-Dimensional; Incidental Findings; Laminectomy; Magnetic Resonance Imaging; Meningocele; Microsurgery; Neural Tube Defects; Neurosurgical Procedures; Treatment Outcome
PubMed: 31430540
DOI: 10.1016/j.wneu.2019.08.016 -
Progres En Urologie : Journal de... Jun 1992Anterior sacral meningocele is defined as a spinal fluid-filled thecal sac in the pelvis communicating with the spinal subarachnoid space through a defect in the... (Review)
Review
Anterior sacral meningocele is defined as a spinal fluid-filled thecal sac in the pelvis communicating with the spinal subarachnoid space through a defect in the anterior sacral wall. Since scimitar shape of the sacrum is characteristic, diagnosis is easily confirmed by echography and myelography. The sac very often contains benign tumors and a thickened filum terminale which can achieve a tethered cord syndrome. This congenital malformation, whose autosomal inherited condition has been proposed, has usually few characteristic symptoms but can present itself as a neurogenic bladder from tethered cord origin. Neurosurgical treatment can prevent rupture of the meningocele with meningitis. In addition to symptomatic treatment of the neurogenic bladder, the urologist must advise neurosurgical operation to preserve potency and cure specific bladder dysfunction secondary to tethered cord syndrome.
Topics: Female; Humans; Meningocele; Middle Aged; Sacrococcygeal Region; Urinary Bladder Diseases
PubMed: 1302088
DOI: No ID Found -
Archivos de Bronconeumologia Oct 1995Posterior mediastinal tumors in young people are most often neurogenic. The presence of a meningocele has occasionally been described as causing mass in the region and... (Review)
Review
Posterior mediastinal tumors in young people are most often neurogenic. The presence of a meningocele has occasionally been described as causing mass in the region and cases reported have mainly been in patients with neurofibromatosis. We describe a patient with type I neurofibromatosis and intrathoracic meningocele.
Topics: Adult; Diagnosis, Differential; Humans; Male; Meningocele; Neurofibromatosis 1
PubMed: 7582436
DOI: 10.1016/s0300-2896(15)30885-1 -
Surgical Neurology Jul 1981A case of anterior sacral meningocele is presented emphasizing early diagnosis based on recurring functional complaints and employing appropriate radiological studies....
A case of anterior sacral meningocele is presented emphasizing early diagnosis based on recurring functional complaints and employing appropriate radiological studies. The appropriate use of computerized tomography (CT) scanning and the proper surgical management utilizing laminectomy and obliteration of the communicating channel of the meningocele are discussed.
Topics: Child; Humans; Male; Meningocele; Myelography; Sacrum; Tomography, X-Ray Computed
PubMed: 7280972
DOI: 10.1016/s0090-3019(81)80064-x -
American Journal of Medical Genetics.... Feb 2014Lateral meningocele syndrome (LMS) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and... (Review)
Review
Lateral meningocele syndrome (LMS) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. LMS has been observed in eleven patients with two instances of vertical transmission, and seven sporadic cases with an age at diagnosis ranging from 25 months to 33 years. We report on a further observation of LMS in a 55-year-old woman presenting with a long history of joint instability, chronic musculoskeletal pain, and iatrogenic bladder and anorectal dysfunction due to irreversible nerve damage after surgical excision of a meningeal cyst. Her clinical characteristics are compared with those of previously reported patients, as well as two further cases originally diagnosed with Hajdu-Cheney and Ehlers-Danlos syndromes, but displaying typical features of LMS.
Topics: Abnormalities, Multiple; Brain; Delayed Diagnosis; Diagnosis, Differential; Female; Humans; Joint Instability; Knee Joint; Magnetic Resonance Imaging; Meningocele; Middle Aged; Musculoskeletal Pain; Phenotype
PubMed: 24311540
DOI: 10.1002/ajmg.a.36301 -
Journal of Korean Medical Science Jun 1992Lateral cervical meningocele is an extremely rare developmental anomaly. We could find only one such case protruding from an enlarged C2-3 intervertebral foramen. It may...
Lateral cervical meningocele is an extremely rare developmental anomaly. We could find only one such case protruding from an enlarged C2-3 intervertebral foramen. It may be confused with an extradural cyst or cystic hygroma. Direct needling may introduce infection and thereby pyogenic meningitis and so should be avoided. Similarly, incision and drainage may transform it into cerebrospinal fluid fistula. A computed tomography scan is the most fruitful form of investigation for confirmation and localization of the disease. A lumboperitoneal shunt or water tight closure of the dural sac at the neck is the recommended procedure of choice.
Topics: Child; Humans; Male; Meningocele; Neck
PubMed: 1524732
DOI: 10.3346/jkms.1992.7.2.179 -
Child's Nervous System : ChNS :... Feb 2005
Topics: Encephalocele; Female; Humans; Immunotherapy; Infant; Magnetic Resonance Imaging; Meningocele; Radiography; Sacrococcygeal Region; Spinal Cord Diseases
PubMed: 15609064
DOI: 10.1007/s00381-004-1086-0 -
Urology Sep 1981
Topics: Adult; Diagnosis, Differential; Family; Female; Humans; Infant; Lumbosacral Region; Male; Meningocele; Middle Aged; Myelography; Sex Factors; Urination Disorders; Urography
PubMed: 7281390
DOI: 10.1016/0090-4295(81)90357-5