Systematic Classification of Spina Bifida
| Autor: | Gisela Stoltenburg-Didinger, Angela M. Kaindl, Fabienne Paschereit, Alexandra Steege, Kim Hannah Schindelmann |
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| Rok vydání: | 2021 |
| Předmět: |
Male
Spinal dysraphism Pathology and Forensic Medicine Cohort Studies 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Pregnancy Terminology as Topic Humans Medicine Spinal Dysraphism 030219 obstetrics & reproductive medicine business.industry Spina bifida Infant Newborn Infant General Medicine Anatomy Myeloschisis medicine.disease Neurology Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neuropathology & Experimental Neurology. 80:294-305 |
| ISSN: | 1554-6578 0022-3069 |
| Popis: | Spina bifida (SB) is an umbrella term for multiple conditions characterized by misclosure of vertebral arches. Neuropathologic findings in SB cases are often reported with imprecise and overlapping terminology. In view of the increasing identification of SB-associated genes and pathomechanisms, the precise description of SB subtypes is highly important. In particular, the term "myelomeningocele" is applied to various and divergent SB subtypes. We reevaluated 90 cases with SB (58 prenatal; 32 postnatal). The most frequent SB phenotype in our cohort was myeloschisis, which is characterized by an open neural plate with exposed ependyma (n = 28; 31.1%). An open neural plate was initially described in only in two-thirds of the myeloschisis cases. An additional 21 cases (23.3%) had myelomeningocele; 2 cases (2.2%) had a meningocele; and 21 cases (23.3%) had an unspecified SB aperta (SBA) subtype. Overall, the SB phenotype was corrected in about one-third of the cases. Our findings highlight that "myelomeningocele" and "SB aperta" cannot be used as synonymous terms and that myeloschisis is an underreported SB phenotype. Based on our findings and a review of literature we propose a classification of SB subtypes in SB occulta and the 3 SBA subtypes, meningocele, myelomeningocele, and myeloschisis. |
| Databáze: | OpenAIRE |
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