Anterolateral Cervical Meningocele in Association with Neurofibromatosis

So, Choi; Li, D K

doi:10.1097/00004728-198907000-00028

Cited by 14 publications

(5 citation statements)

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“…Meningoceles may be less common in NF1 but no systematic study has been undertaken. Cervical, thoracic, and lumbar meningoceles have been reported [Phol, 1933;So and Li, 1989;Rainov et al, 1995]. The mechanism is unclear but may reflect a bony abnormality.…”

Section: Discussionmentioning

confidence: 99%

Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype

Chen

Bird

Barnes

et al. 2005

American J of Med Genetics Pt A

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Lateral meningoceles were first described by Lehman et al. [(1977); 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.

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Section: Discussionmentioning

confidence: 99%

Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype

Chen

Bird

Barnes

et al. 2005

American J of Med Genetics Pt A

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“…The presence of NF1 in proband 1 and the prenatal use of amoxapine by the mother of proband 3 are most likely unrelated t o the presence and type of neural tube defects in these children. NF1 has been reported in association with cervical and thoracic meningocele but no other type of neural tube defect [So and Li, 1989;Dolynchuk et al, 19901. The prenatal use of amoxapine, an anti-depressant of the dibenzoxazepine class, has not been reported in association with any congenital defect.…”

Section: Molecular Studiesmentioning

confidence: 99%

Velo‐cardio‐facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

et al. 1994

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Approximately 5% of children with neural tube defects (NTDs) have a congenital heart defect and/or cleft lip and palate. The cause of isolated meningomyelocele, congenital heart defects, or cleft lip and palate has been largely thought to be multifactorial. However, chromosomal, teratogenic, and single gene causes of combinations of NTDs with congenital heart defects and/or cleft lip and palate have been reported. We report on 3 patients with meningomyelocele, congenital heart defects, and 22q11 deletions. Two of the children had the clinical diagnosis of velo-cardio-facial syndrome (VCFS); both also have bifid uvula. The third child had DiGeorge sequence (DGS). The association of NTDs with 22q11 deletions has not been reported previously. An accurate diagnosis of the 22q11 deletion is critical as this micro-deletion and its associated clinical problems is transmitted as an autosomal dominant trait due to the inheritance of the deletion-bearing chromosome. We recommend that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions.

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“…Meningocoeles associated with neurofibromatosis are reported most frequently in the thoracic region. So and Li (1989) in their review of the literature found only eight cases of cervical meningocoele; only three of the reviewed cases, in addition to the case we present, have been purely cervical. This case appears to be the only one which presented as a neck mass.…”

Section: Discussionmentioning

confidence: 57%

“…The pathogenesis of this lesion is uncertain. Many hypotheses have been put forward but at present the most likely involves a primary mesenchymal defect which allows out pouching of the dura through the spinal foramina (So and Li, 1989). The increased negative pressure in the thoracic cavity may be in part responsible for the increased prevalence of the lesion in that area.…”

Section: Discussionmentioning

confidence: 99%

“…The decision to operate on a meningocoele versus conservative management of any symptoms, usually pain, is based on the degree of discomfort or dysfunction a patient is experiencing. In cervical meningocoeles, So and Li (1989) favour a conservative approach because of the complexity of operating in the neck, but if surgery is elected it can take the form of removal of the meningocoele, with application of a patch to the thecal communication or rhizotomy to relieve the pressure on the nerve roots.…”

Section: Discussionmentioning

confidence: 99%

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Cervical meningocoele presenting as a neck mass in a patient with neurofibromatosis 1

Freund¹,

Timon²

1992

J. Laryngol. Otol.

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Anterolateral Cervical Meningocele in Association with Neurofibromatosis

Cited by 14 publications

References 0 publications

Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype

Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype

Velo‐cardio‐facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

Cervical meningocoele presenting as a neck mass in a patient with neurofibromatosis 1

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