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Transabdominal ultrasonography images showing absent calvaria with deformed brain tissue (upper), absence of posterior elements with splaying of lamina and exposure of spinal cord to the amniotic fluid (arrows in middle), and spinal kyphotic deformity (lower)
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Craniospinal rachischisis is a rare and severe form of neural tube defects (NTDs), which is always fatal. It is characterized by anencephaly accompanied by a bony defect of the spine and exposure of neural tissue. We describe the two patients with ultrasonographic and magnetic resonance imaging appearance of craniospinal rachischisis totalis, detec...
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Evidence for folate’s protective effects on neural tube defects led the USA and Chile to start mandatory folic acid (FA) fortification programs, decreasing up to 50%. However, \(\sim\)30% of the population consuming fortified foods reach supraphysiologic serum levels. Although controversial, several epidemiological and clinical observations suggest...
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Epidemiological studies showing the correlation between folate and the breast cancer risk have revealed inconsistent results. Hence, we conducted a dose-response meta-analysis of observational studies to obtain more reliable conclusions. We searched PubMed and Embase for studies published before April 2019 and identified 39 studies on folate intake...
Background
Folate is essential for the synthesis and integrity of DNA, normal cell formation and body growth. Folate deficiency among women of reproductive age (WRA) increases the risk of poor birth outcomes including neural tube defect (NTD) affected pregnancies. Folate status is largely dependent on dietary intakes.
Objectives
To explore the spa...
Background and Objectives: There is considerable evidence that periconceptional maternal folate deficiency and coding variants in maternal genes coding for critical enzymes in the folate pathway are associated with neural tube defects (NTDs) in offspring. In a case-control study we investigated C677T polymorphism in the 5,10-methylenetetrahydrofola...
Citations
... Jaganmohan et al described a case with some similar findings, identifying, in addition to the NTD, bulging eyes and a protruded tongue. 21 A case from India also narrates a fetus with anencephaly and total spina bifida in combination with exomphalos and sternal cleft and no other malformations pointed. 5 In this case, apart from folate supplementation only starting at the eighth week of gestation, no other evident predisposing factor was identified and there was not any evident genetic susceptibility since there was no family history of repeated miscarriages or NTD, nor other affected siblings. ...
... 1 2 5 Yet, it is also possible during the second-trimester especially using magnetic resonance for confirmation. 21 In our case, the diagnosis was suspected in the first-trimester ultrasound and confirmed postnatally, highlighting the importance of the first-trimester screening in the early diagnosis of severe malformations-in this case, a lethal congenital malformation eligible for elective termination of pregnancy. ...
Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. The parents opted for pregnancy termination and the diagnosis was confirmed postnatally. Besides the lack of folic acid supplementation during preconception, no other risk factor was found. This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.
... Myeloschisis (rachischisis) is a rare congenital malformation linked to incomplete development of the spine and characterized by posterior opening of the vertebrae [1,2]. It is spread over more than one floor or even the entire spine and incompatible with life. ...
... It is spread over more than one floor or even the entire spine and incompatible with life. Its diagnosis is clinical, confirmed by ultrasound and cross-sectional imaging [2]. ...
Myeloschisis (rachischisis) is a rare congenital malformation linked to incomplete development of the spine and characterized by posterior opening of the vertebrae [1,2]. It is spread over more than one floor or even the entire spine and incompatible with life. Its diagnosis is clinical, confirmed by ultrasound and cross-sectional imaging [2]. This anomaly in its thoracic location is rare. There are two types: Segmentation and development defects [4]. Developmental defects include hemi vertebrae and failure of neural tube fusion which in turn includes the simple cleft of the posterior arch of the vertebrae (spina bifida) [3]. It can involve one or more vertebral arches, determining extensive spinal dysraphism. Certain factors favor their appearance. According to the literature, only one article published in 1972 by Levy et al, which reported an incidence of 0.01% of thoracic spina bifida [3]. We report the case of a 33-day-old female infant born at term in breech presentation, with a pregnancy that was not well followed. There was a notion of taking fenugreek during pregnancy. Hospitalized for meningitis, with a dysmorphic face, clinically presented a dorsolumbar spina bifida (Figure 1). She had received antibiotic therapy and regular dressings since her admission. A cerebral-medullary scan was performed and showed a progressive opening of the spinous processes from the cervical and dorsal spine, more marked at the height of the spinous process of the fourth dorsal vertebra to distality, with issue of meningeal structures and spinal cord. Conflicts of interest: The authors declare that they have no conflicts of interest.
... Neuralrinne angelegt und der rostrale Anteil, der sich zum Gehirn auswächst, klar abgegrenzt [59]. Störungen des Neuralrohrschlusses zu diesem Zeitpunkt führen zu schwerster Kopf-und Hirnmissbildung (Kraniorhachischisis totalis), die mit dem Leben unvereinbar ist und immer zur Totgeburt führt [60]. Ebenfalls in Symmetrie zum Hirntodkriterium kann eine Schädigung bzw. ...
Zusammenfassung
In der akademischen und öffentlichen Debatte wird der irreversible Hirnfunktionsausfall als Kriterium des Todes (Hirntodkriterium) immer wieder hinterfragt. Im vorliegenden Artikel werden 6 prototypische Thesen gegen das Hirntodkriterium diskutiert: 1) Nichtsuperiorität des Gehirns gegenüber anderen Organen, 2) Unsicherheit der Hirntoddiagnostik, 3) erhaltene Schmerzempfindung Hirntoter, 4) (spontane) sexuelle Reifung und erhaltene Reproduktionsfunktion Hirntoter, 5) Symmetrie von Hirntod und Embryonalphase, 6) Gleichsetzung des intensivmedizinisch erhaltenen Restorganismus Hirntoter mit dem lebenden Menschen.
Keine dieser Thesen hält einer kritischen Analyse stand. In Deutschland wird das Ganzhirntodkriterium angewendet. Der Hirntod geht mit dem völligen Ausfall jeglicher Empfindung, Bewusstheit, Mimik, Augen‑, Zungen- und Schlundmotorik, Willkürmotorik und Sexualfunktion einher (funktionelle „Enthauptung“). Medizinisch-technisch können andere Organe bzw. ihre Primitivsteuerung ersetzt werden, nicht aber das Gehirn. Das Gehirn, nicht der Körper, ist bestimmend für das menschliche Individuum. Die Gleichsetzung des künstlich erhaltenen Restorganismus, naturphilosophisch als lebendiges System interpretierbar, mit dem Organismus desselben lebenden Menschen wird durch die beliebige Reduzierbarkeit der Anzahl beteiligter Organe ad absurdum geführt. Der irreversible Hirnfunktionsausfall führt unausweichlich zum Herzstillstand, unbehandelt innerhalb von Minuten, unter Intensivtherapie i. d. R. innerhalb von Tagen. Auch beim Embryo/Fötus führt die Fehlanlage des gesamten Gehirns zum (vorgeburtlichen) Tod. Die in Deutschland gesetzliche Richtlinie zur Hirntodfeststellung hat eine im internationalen Vergleich hohe Diagnosesicherheit, es sind damit keine bestätigten Fehldiagnosen aufgetreten.
... In the present study we noted 21 cases with rachischisis whereas Deepasree found 2 case reports with rachischisis [14]. [15]. ...
... The cause of NTDs is multifactorial: exposure to valproic acid, maternal type 1 or pregestational insulin-dependent diabetes mellitus, consanguineous marriage, environmental influences, folate deficiency and polymorphism mutation in gene encoding 5, 10methylenetetrahydrofolate reductase (MTHFRC677T), antimetabolites of folic acid, other toxins with the same effects as folic acid, maternal fever in early gestation and amniotic band disruption during pregnancy. [10][11][12][13][14] Cellular and molecular mechanisms in the occurrence of cracniorachischisis is poorly understood and difficult to study in humans. Some studies have suggested that mutations in the CELSR1 and SCRIB genes may be associated with this malformation. ...
... 19 Concerning the diagnostic means, craniorachischisis can be detected on ultrasound at gestational age of 13 weeks and magnetic resonance imaging at 22 weeks. 2,11 In our case, the rachischisis was diagnosed at birth. After the first ultrasound examination at 13 th weeks, and explanation to the parents of anencephaly recurrence, no other investigation was realized. ...
Craniorachischisis is the most severe type of neural tube defect in which almost the entire brain and spinal cord remain open. We report a case in a female fetus born at gestational week 38, with both anencephaly and open spina bifida. It was the second pregnancy of a 26-year-old woman. The first pregnancy had to be interrupted by a medical termination at 18th gestational week because of an anencephaly. We aim to report the first case documented in Madagascar.
During 3–5 weeks of gestation, there is formation and closure of neural tube, also termed as dorsal induction. The primary neurulation process is responsible for the development of brain and spinal cord up to S2 from the neural tube. Secondary neurulation occurs later and results in the formation of caudal part of the neural tube that develops into sacral and coccygeal segments. The cranial segment of the neural tube develops into the forebrain, midbrain, and hindbrain. The caudal segment of the neural tube develops into the spinal cord and spine. Partial or complete failure of closure of the neural groove leads to neural tube defects (or defects of dorsal induction) and multiple causes have been identified. These include folic acid deficiency, maternal diabetes, exposure to teratogens, and karyotype/genetic defects [1, 2].
