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6. Differential, anterior sacral meningocele. CSF-filled sac extruded through an anterior sacral defect into the pelvic cavity (white arrow), together with multiple, partly enhanced teratoid components; the cord is tethered to the sac (Currarino syndrome); caudal hydrosyringomyelia (curved arrow)
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Myelomeningocele (MMC) is a malformation characterized by the failure of closure of the neural tube, usually (but not only)
at the lumbo-sacral level. Synonyms are spina bifida aperta, open spinal dysra — phism, and Chiari II malformation complex.
MMC is typically associated with a metamerically consistent paraplegia, a posterior fossa deformity kn...
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The objective of this study was to examine the relation between the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene and behaviors related to attention- deficit/hyperactivity disorder (ADHD) in individuals with myelomeningocele. The rationale for the study was twofold: folate metabolizing genes, (e.g. MTHFR), are important not only in the eti...
Citations
... The macroscopic picture of C-II is characterized by a rich and variegated number of pathological findings and associated anomalies as expression of a dysplasia of all the central nervous system (Gilbert et al. 1986;Iskandar and Oakes 1999;McLone and Dias 2003;Raybaud and Miller 2008;Van Roost et al. 1995). They can be summarized as follows (see also Table 1): 1. ...
... High-definition 3D T2 acquisition and venography emphasize the details as well as the venous anatomy. These details can be summarized as follows (Raybaud and Miller 2008): ...
... On the contrary, during late childhood and adolescence, CT scan may reveal a significant thickening of the skull as result of early shunting in hydrocephalic patients. Further cranial anomalies well detected by CT scan are the following (Raybaud and Miller 2008): enlarged foramen magnum and upper cervical canal, short and scalloped clivus, the absence of basilar impression or invagination, scalloping of the petrous pyramids, shortening of the auditory canals, flattened and convex upward occipital squama, and incomplete neural arch of C1 (70% of cases) with intact C2. The inion is low as well as the attachment of the tentorium and the markings of the venous sinuses (important information for the surgical planning). ...
... The macroscopic picture of C-II is characterized by a rich and variegated number of pathological findings and associated anomalies as expression of a dysplasia of all the central nervous system (Gilbert et al. 1986;Iskandar and Oakes 1999;McLone and Dias 2003;Raybaud and Miller 2008;Van Roost et al. 1995). They can be summarized as follows (see also Table 1): 1. ...
... High-definition 3D T2 acquisition and venography emphasize the details as well as the venous anatomy. These details can be summarized as follows (Raybaud and Miller 2008): ...
... On the contrary, during late childhood and adolescence, CT scan may reveal a significant thickening of the skull as result of early shunting in hydrocephalic patients. Further cranial anomalies well detected by CT scan are the following (Raybaud and Miller 2008): enlarged foramen magnum and upper cervical canal, short and scalloped clivus, the absence of basilar impression or invagination, scalloping of the petrous pyramids, shortening of the auditory canals, flattened and convex upward occipital squama, and incomplete neural arch of C1 (70% of cases) with intact C2. The inion is low as well as the attachment of the tentorium and the markings of the venous sinuses (important information for the surgical planning). ...
... Badania rezonansu magnetycznego u dzieci przepukliną oponowo-rdzeniową, oprócz wodogłowia, wykazały zmniejszenie objętości mózgu i móżdżku, nieprawidłowości śródmózgowia mostu, splenium i tectum [9]. Uważa się, że u pacjentów z przepukliną oponowo-rdzeniową za deficyty pamięci, uwagi i ruchów jest odpowiedzialna malformacja mózgu typu Chiari II [10]. Za deficyty uwagi są odpowiedzialne z kolei zmiany w śródmózgowiu, w tylnych obszarach kory mózgu i ciała modzelowatego [11]. ...
... Aqueductal stenosis (AS) is characterized by narrowing of the cerebral aqueduct (Barkovich & Raybaud, 2012); the Dandy Walker malformation (DWM) involves agenesis or hypoplasia of the cerebellar vermis, cystic expansion of the fourth ventricle, and enlargement of the posterior fossa (Barkovich & Raybaud, 2012); and spina bifida myelomeningocele (SBM) is characterized by a small posterior fossa causing mechanical abnormalities of the medulla, downward herniation of the cerebellum and hindbrain, and midbrain abnormalities, including beaking of the tectum (Raybaud & Miller, 2008). ...
Covert orienting is related to the integrity of the midbrain, but the specificity of the relation is unclear. We compared covert orienting in three etiologies of congenital hydrocephalus (aqueductal stenosis [AS], Dandy-Walker malformation [DWM], and spina bifida myelomeningocele [SBM]-with and without tectal beaking) to explore the effects of midbrain and posterior fossa malformations. We hypothesized a stepwise order of group performance reflecting the degree of midbrain tectum dysmorphology. Performance on an exogenously cued covert orienting task was compared using repeated measures analysis of covariance, controlling for age. Individuals with SBM and tectal beaking demonstrated the greatest disengagement cost in the vertical plane, whereas individuals with AS performed as well as a typically developing (TD) group. Individuals with SBM but no tectal beaking and individuals with DWM showed greater disengagement costs in the vertical plane relative to the TD group, but better performance relative to the group with SBM and tectal beaking. Individuals with AS, DWM, and SBM and tectal beaking demonstrated poorer inhibition of return than TD individuals. Impairments in attentional disengagement in SBM are not attributable to the general effects of hydrocephalus, but are instead associated with specific midbrain anomalies that are part of the Chiari II malformation. (JINS, 2014, 20, 1-10).
... Sleep problems are common in neurodevelopmental disorders like SBM (Glickman, 2010; Harvey and Kennedy, 2002). SBM is associated with sleep apnea (Waters et al., 1998), abnormality of hypothalamic structures (Raybaud and Miller, 2008), and compromise of the optic nerve (Del Bigio, 2010), due to the Chiari II malformation of the cerebellum and brainstem, and due to hydrocephalus. ...
Spina bifida meningomyelocele (SBM) is a neural tube defect that involves dysraphism of the spinal cord and extensive reorganization of the brain. The authors assessed the relationship between chronotype, diurnal preferences, and sleep problems in individuals with SBM and healthy controls. Although individuals with SBM showed the characteristic decelerating quadratic relationship between age and chronotype, the curve was displaced, peaking at a younger age in controls compared with SBM (23.4 vs. 29.2 years). Groups did not differ in morningness-eveningness preferences. Individuals with SBM endorsed more sleep problems than controls. Further examination of the relationship between entrainment and sleep in SBM is warranted.
Myelomeningocele has been recognized since ancient times although written descriptions began not before the 17th century. Among all serious congenital malformations, myelomeningocele is unique that is has a steady and considerable prevalence while being compatible with life. It has a dismal prognosis when left untreated where virtually all die within the first year while aggressive treatment have a profound effect on survival and quality of life. Effective surgical treatment became possible parallel to the treatment of hydrocephalus in the late 1950s. Advent of the shunt systems undoubtedly changed the morbidity and mortality rates due to associated hydrocephalus. Aggressive and effective treatment improved survival rates but also those suffering physical and mental disabilities have increased as well. Ethical and socioeconomic concerns have led to proposal for selective treatment criteria which have raised arguments on medical and ethico-legal rounds. After the swing of the pendulum between early treatment in all affected children and selective treatment of those who fulfilled the criteria for good prognosis, early myelomeningocele repair is practiced widely unless the infant is critically ill.
Spina bifida meningomyelocele (SBM), a congenital neurodevelopmental disorder, involves dysmorphology of the cerebellum, and its most obvious manifestations are motor deficits. This paper reviews cerebellar neuropathology and motor function across several motor systems well studied in SBM in relation to current models of cerebellar motor and timing function. Children and adults with SBM have widespread motor deficits in trunk, upper limbs, eyes, and speech articulators that are broadly congruent with those observed in adults with cerebellar lesions. The structure and function of the cerebellum are correlated with a range of motor functions. While motor learning is generally preserved in SBM, those motor functions requiring predictive signals and precise calibration of the temporal features of movement are impaired, resulting in deficits in smooth movement coordination as well as in the classical cerebellar triad of dysmetria, ataxia, and dysarthria. That motor function in individuals with SBM is disordered in a manner phenotypically similar to that in adult cerebellar lesions, and appears to involve similar deficits in predictive cerebellar motor control, suggests that age-based cerebellar motor plasticity is limited in individuals with this neurodevelopmental disorder.
A cognitive phenotype is a product of both assets and deficits that specifies what individuals with spina bifida meningomyelocele (SBM) can and cannot do and why they can or cannot do it. In this article, we review the cognitive phenotype of SBM and describe the processing assets and deficits that cut within and across content domains, sensory modality, and material, including studies from our laboratory and other investigations. We discuss some implications of the SBM cognitive phenotype for assessment, rehabilitation, and research.
Few volumetric MRI studies of the entire cerebellum have been published; even less quantitative information is available in patients with hindbrain malformations, including the Chiari II malformation which is ubiquitous in patients with spina bifida meningomyelocele (SBM). In the present study, regional volumetric analyses of the cerebellum were conducted in children with SBM/Chiari II and typically developing (TD) children. Total cerebellar volume was significantly reduced in the SBM group relative to the TD group. After correcting for total cerebellum volume, and relative to the TD group, the posterior lobe was significantly reduced in SBM, the corpus medullare was not different, and the anterior lobe was significantly enlarged. Children with thoracic level lesions had smaller cerebellar volumes relative to those with lumbar/sacral lesions, who had smaller volumes compared to TD children. The reduction in cerebellar volume in the group with SBM represents not a change in linear scaling but rather a reconfiguration involving anterior lobe enlargement and posterior lobe reduction.
