Lack of uniformity in the clinical assessment of children with lipomyelomeningocele: a review of the literature and recommendations for the future

May, Lindy; Hayward, Richard; Chakraborty, Aabir; Franck, Linda S.; Manzotti, Grazia; Wray, Jo; Thompson, Dominic

doi:10.1007/s00381-013-2063-2

Cited by 10 publications

(6 citation statements)

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“…Spina bifida occulta (SBO) is the second major form of NTDs, where the site of the lesion is not left exposed [ 129 , 130 ]. Spina bifida occulta encompasses lipomyelomeningocele ( Figure 1(d) ), lipomeningocele ( Figure 1(e) ), and spinal dorsal dermal sinus tract ( Figure 1(f) ) ranging phenotypically from (i) dysplastic skin, (ii) tuft of hair, and (iii) vestigial tail as well as other forms of spinal dysraphism, which lack a pathogenic representation when the vertebrae develop abnormally leading to absence of the neural arches [ 131 , 132 ]. In symptomatic cases, tethering of the spinal cord within the vertebral canal can result in pain, weakness, and incontinence in otherwise normal, healthy children or adults [ 133 ].…”

Section: Pathogenesismentioning

confidence: 99%

Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

et al. 2017

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Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.

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Section: Pathogenesismentioning

confidence: 99%

Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

et al. 2017

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“…Even though there is enormous data on TCS in children, there has yet to be a universal scale that can be applied to preoperative and postoperative assessment [15]. We modified a scale that was proposed on the basis of a clinical approach for TCS patients [7].…”

Section: Discussionmentioning

confidence: 99%

Variation in Outcome in Tethered Cord Syndrome

2016

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Study DesignFifty patients surgically treated for tethered cord syndrome (TCS) were retrospectively studied at Liaquat National Hospital, Karachi from 2010 until 2014.PurposeTo assess the common presentations of TCS in our part of the world and the surgical outcome of the different presentations.Overview of LiteratureTCS is a stretch-induced functional disorder of the spinal cord with its caudal part anchored by an inelastic structure, which results in characteristic symptoms and signs. Due to the variety of lesions and clinical presentations and the absence of high-quality clinical outcome data, the decision regarding treatment is difficult.MethodsFifty consecutive patients with TCS were reviewed retrospectively with a follow-up period of 12–48 months. The majority of the patients were 0-15 years of age with the mean age of 4 years. The presenting complaints and the associated pathologies were documented, and the patients were assessed using the new Karachi TCS severity scale for clinical assessment.ResultsEighty five percent of the patients with thickened filum terminale improved. Sixty six percent of the patients with diastematomyelia, 60% with lipoma and only 46% with myelomeningocele showed clinical improvement postoperatively. Sixty two percent of the patients who presented with paraperesis improved following surgery while 37% remained stable and only one patient deteriorated. Back and leg pain improved in 93% of patients and 50% of patients with urinary impairment improved.ConclusionsOutcome of patients with TCS varies according to pathology and severity of symptoms. Diastematomyelia and thickened filum had the best outcome. The Karachi TCS severity scale is a valid tool for future studies.

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“…The literature regarding LMM and surgical outcomes is particularly heterogeneous; there are studies from the points of view of urology, orthopedics, neurology, and neurosurgery, and each has their own criteria for both preoperative assessment and postoperative outcomes [21]. Furthermore, Blount and Elton [3] remarked that LMM is often loosely and, incorrectly, defined as any lipomatous formation of the conus medullaris, making it more difficult to adequately compare studies.…”

Section: Introductionmentioning

confidence: 98%