The impact of a biocellulose-based repair of fetal open spina bifida on the need to untether the cord: is it time to unify techniques for prenatal repair?

OBJECTIVE: To report the need for cord untethering after prenatal repair of open spina bifida using a unique biocellulose-based technique performed at a later gestational age. METHODS: An observational cohort study was conducted to determine the incidence of tethered cord syndrome. Between May 2013 and May 2022, we performed 172 procedures using the percutaneous fetoscopic approach in fetuses at 26-28 weeks of gestation. After placode dissection, a biocellulose patch was placed to cover the placode, a myofascial flap (when possible) was dissected, and the skin was closed. Owing to death or loss to follow-up, 23 cases were excluded. Cord tethering syndrome was defined as symptoms of medullary stretching, and the infants were evaluated and operated on by local neurosurgeons after an magnetic resonance imaging examination. Infants over 30-month had ambulation and neurodevelopment evaluations (PEDI scale). RESULTS: Among 172 cases operated at a median gestational age of 26.7 weeks and delivered at 33.2 weeks, 149 cases were available for postnatal follow-up, and cord untethering was needed in 4.4% of cases (6/136; excluding 13 cases younger than 12 months). Cerebrospinal fluid diversion and bladder catheterization were needed in 38% and 36% of cases, respectively. Of the 78 cases evaluated at 30 months, 49% were ambulating independently, and 94% had normal social function. CONCLUSION: The biocellulose-based technique was associated with a low rate of cord tethering, wich may be attributed to the lack of the duramater suture during prenatal repair, the formation of a neoduramater and/or later gestational age of surgery.

Médula espinal amarrada. Reporte de caso / Case Report: Tethered cord syndrome

We present the case of a 31-year-old patient recent diagnosed with tethered cord syndrome, by MRI, before urgent caesarian section. The image shows the conus medullaris in a low location, reaching L5-S1, which could lead to potential neurological damage if it hadn't been diagnosed. Tethered cord syndrome is a condition in which the spinal cord is enlongated and in a low location, attached to an inelastic structure that holds the conus medullaris, blocking its normal ascension during growth. As a result, the conus medullaris is located below L2 vertebral body, increasing the risk of suffering direct neural damage at spinal anesthesia. Even if direct cord injury can be avoided, the injection of a local anesthetic agent may increase the subarachnoidal preassure leading undirectly to spinal cord damage. The tethered cord is considered to be a contraindication for spinal anesthesia. The incidence of tethered cord is unknown, it can be asymptomatic in adults or present non-specific symptoms, making it difficult to detect before anesthesia. The MRI is the best method for adult diagnosis, allowing us to evaluate the conus medullaris location, injuries and deformations

Presentamos el caso de una paciente de 31 años coordinada para cesárea de urgencia con diagnóstico reciente de médula amarrada (MA) por resonancia magnética. La imagen muestra el cono medular descendido hasta por lo menos L5-S1, exponiéndola a un potencial daño neurológico de no contar con el diagnóstico. Médula amarrada es una condición en la cual la médula espinal se encuentra estirada y descendida por una estructura inelástica que amarra el cono medular, evitando su normal ascenso durante el crecimiento. Como resultado, el cono medular se encuentra por debajo del cuerpo de L2, incrementando el riesgo de lesión directa con la aguja de raquianestesia. Incluso en aquellos pacientes en que la lesión directa no se produce, la inyección del anestésico local puede aumentar la presión subaracnoidea pudiendo provocar una lesión indirecta. La MA es considerada una contraindicación para la anestesia raquídea. La incidencia de MA se desconoce, en adultos puede ser asintomática o presentar síntomas inespecíficos dificultando su diagnóstico preoperatorio. La RNM es el método de elección para el diagnóstico en adultos, permitiéndonos valorar la localización del cono medular, lesiones y malformaciones En neonatos la ultrasonografía puede ser también de utilidad para el diagnóstico.

Congenital hemangioma in spondylocostal dysostosis: a novel association

Abstract Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel association of congenital hemangioma and spondylocostal dysostosis in a Mexican newborn female patient with neural tube defects. Given the embryological relationship between skin and nervous system, I surmise that this association is not coincidental. I also propose that these morphologic alterations be incorporated to the spondylocostal dysostosis phenotype and specifically looked for in other affected children, in order to provide appropriate medical management and genetic counseling.

Congenital hemangioma in spondylocostal dysostosis: a novel association.

Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel association of congenital hemangioma and spondylocostal dysostosis in a Mexican newborn female patient with neural tube defects. Given the embryological relationship between skin and nervous system, I surmise that this association is not coincidental. I also propose that these morphologic alterations be incorporated to the spondylocostal dysostosis phenotype and specifically looked for in other affected children, in order to provide appropriate medical management and genetic counseling.

Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil.

CONTEXT AND OBJECTIVE: Anencephaly is considered to be the most common type of neural tube defect. Our aim was to assess the clinical and gestational features of a cohort of fetuses with suspected anencephaly. DESIGN AND SETTING: Population-based retrospective cohort study in a referral hospital in southern Brazil. METHODS: The sample consisted of fetuses referred due to suspected anencephaly, to the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas, between January 2005 and September 2013. Clinical, radiological, pathological and survival data were gathered. RESULTS: Our sample was composed of 29 fetuses. The diagnosis of suspected anencephaly was made on average at 21.3 weeks of gestation. Seven fetuses had malformations that affected other organs, and these included oral clefts (n = 4) and congenital heart defects (n = 2). In 16 cases, there was termination of pregnancy (n = 12) or intrauterine death (n = 4). Regarding those who were born alive (n = 13), all of them died in the first week of life. After postnatal evaluation, the diagnosis of anencephaly was confirmed in 22 cases (75.9%). Other conditions included amniotic band disruption complex (6.9%), microhydranencephaly (6.9%), merocrania (3.4%) and holoprosencephaly (3.4%). CONCLUSIONS: Different conditions involving the cranial vault may be confused with anencephaly, as seen in our sample. However, these conditions also seem to have a poor prognosis. It seems that folic acid supplementation is not being properly performed.

The occipitum-dens line: the purpose of a new ultrasonographic landmark in the evaluation of the relationship between the foetal posterior fossa structures and foramen magnum.

PURPOSE: The aims of this study were to describe a new ultrasonographic technique to assess the normal level of the cerebellum and the brainstem in the posterior fossa in normal foetuses and to compare in pathologic cases. METHODS: We propose a new line cross between the dens cervical and the inferior portion of occipitum (occipitum-dens line-ODL). In a cross-sectional study, a single observer with experience in foetal neurosonography evaluated 54 foetuses (40 normal and 14 with open neural tube defect) between 20 and 28 weeks of gestation. The reference points for the ODL are principally the lower portion of the occipital bone (occipitum) and odontoid process of the second cervical vertebra (dens). The line was considered the level zero (near level of foramen magnum). Structures above it had a positive measurement and below it had a negative measurement. RESULTS: Moreover, in most foetuses with open neural tube defect (93 %), the end portion of cerebellum was below the ODL associated with different degrees of ventriculomegaly. CONCLUSION: The proposed innovation aims to bring to the ultrasound the most likely anatomical parameters of evaluation in normal foetuses and in foetuses with spinal dysraphism.

Multiple segmental spinal cord hypoplasia in a cat / Hipoplasia medular segmentar múltipla em um felino doméstico

Background: The nervous system is one of the most affected by congenital malformations. These can occur during neural tube formation or failed neurogenesis. Segmental spinal cord hypoplasia commonly involves two or three spinal segments in the thoracolumbar region. It is characterized by incomplete formation of the spinal cord and may also be followed by spine column malformations. Clinical signs usually include functional impairment of the hindlimbs. Diagnosis is based on history, clinical signs, age, radiographs and is confi rmed with necropsy and histopathological fi ndings. There is no treatment for this condition and the animals present low life quality. This paper aims to report the clinical, radiographic and histopathological aspects of multiple segmental spinal cord hypoplasia in a domestic cat. Case: A 52-days-old, female, Persian breed, domestic cat weighing 0.55 kg was treated presenting a history of pelvic limb paraplegia associated with urinary and fecal incontinence since birth. On clinical examination there were fl accid paraplegia of hind limbs associated with absence of proprioception, anal refl ex and tone and postural defi cits. Also, all spinal refl exes of pelvic limbs and deep and superfi cial pain were absent. There was no clinical history of muscular tremors, nystagmus, seizures or other central nervous system signs. The other animals of the litter showed...(AU)

Multiple segmental spinal cord hypoplasia in a cat / Hipoplasia medular segmentar múltipla em um felino doméstico

Background: The nervous system is one of the most affected by congenital malformations. These can occur during neural tube formation or failed neurogenesis. Segmental spinal cord hypoplasia commonly involves two or three spinal segments in the thoracolumbar region. It is characterized by incomplete formation of the spinal cord and may also be followed by spine column malformations. Clinical signs usually include functional impairment of the hindlimbs. Diagnosis is based on history, clinical signs, age, radiographs and is confi rmed with necropsy and histopathological fi ndings. There is no treatment for this condition and the animals present low life quality. This paper aims to report the clinical, radiographic and histopathological aspects of multiple segmental spinal cord hypoplasia in a domestic cat. Case: A 52-days-old, female, Persian breed, domestic cat weighing 0.55 kg was treated presenting a history of pelvic limb paraplegia associated with urinary and fecal incontinence since birth. On clinical examination there were fl accid paraplegia of hind limbs associated with absence of proprioception, anal refl ex and tone and postural defi cits. Also, all spinal refl exes of pelvic limbs and deep and superfi cial pain were absent. There was no clinical history of muscular tremors, nystagmus, seizures or other central nervous system signs. The other animals of the litter showed...

[Use of intracranial translucency measurement in first trimester, beyond spina bifida]. / Utilidad de la medición de la translucencia intracraneal en el primer trimestre: más allá de la espina bífida.

BACKGROUND: The intracranial translucency (IT) is described as echolucid space located in the fetal central nervous system corresponding to the fourth ventricle. Alteration in the first trimester is associated with neural tube defects (NTDs). OBJECTIVE: Describe the technique and normal values of translucency and everything that makes this resourse a useful option in the detection of defects and abnormalities. METHODS: We conducted an electronic search of the literature registered in: PubMed, Ovid, and ProQuest, between September 2009 and January 2013. RESULTS: It describes technical and normal values, factors affecting measurement, intra and inter-observer variability, regarding the screening and diagnosis of NTDs. CONCLUSION: The IT should be included in the checklist of valuable structures on 11 to 13 ultrasound; its alteration should be related not just o NTDs but posterior fossa anomalies.

Haga su diagnóstico / Make your diagnosis

El diagnóstico es Diastematomielia

Low-risk lumbar skin stigmata in infants: the role of ultrasound screening.

OBJECTIVE: To reassess the utility and validity of ultrasound (US) screening in infants with lumbar midline skin stigmata (MSS) that may be associated with tethering of the spinal cord. STUDY DESIGN: We conducted a prospective observational study of 254 infants under age 6 months with suspicious dorsal MSS between 2005 and 2007. All infants were examined by US and neurosurgical clinical evaluation, and 50 infants also underwent magnetic resonance imaging (MRI). The US and MRI findings were analyzed for correlation. Associations between the imaging findings and the presence of the low-risk skin lesions simple dimple (113 cases) and deviated gluteal fold (DGF; 44 cases) also were evaluated. RESULTS: Analysis of US and MRI results for the cohort of 50 neonates in whom both examinations were performed showed high concordance. The low-risk group of infants with simple dimple and DGF constituted 157 US procedures, 96% of which were of high quality, providing clear visualization of spinal components. None demonstrated any clinically significant pathological findings. CONCLUSIONS: Our data reaffirm the reliability of US as a screening tool for tethered cord syndrome. Infants with low-risk lesions, such as simple dimple and DGF, may be absolved from US screening, because these findings alone do not indicate underlying pathological lesions. We propose a simplified diagnostic classification system for MSS.

Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound.

OBJECTIVES: To determine the prevalence of chromosomal abnormalities in fetuses with open neural tube defects (NTD) undergoing prenatal chromosome analysis. The role of prenatal ultrasound in detecting those with an underlying chromosomal abnormality was also investigated. METHODS: Over a 6-year period, 144 fetuses with open NTD underwent prenatal chromosome analysis between 12 and 37 weeks of gestation, as part of a prospective, multicenter prenatal diagnosis and counseling program in Chile. This population included 66 fetuses with spina bifida, 46 with acrania/anencephaly, 21 with cephalocele and 11 with iniencephaly. A confident prenatal diagnosis was made in 143 fetuses (99%) and confirmed postnatally in all cases. RESULTS: An underlying chromosomal abnormality was diagnosed in 10 fetuses (7%), six with spina bifida, three with cephalocele and one with craniorachischisis. The prevalence of chromosomal abnormality varied according to the defect present in the fetus, with a 14% (3/21) prevalence among those with cephalocele, 9% (6/66) among those with spina bifida and 2% (1/57) among those with lethal defects such as acrania, anencephaly or iniencephaly. Karyotype results revealed trisomy 18 in seven cases, trisomy 13 in two and mosaicism for a marker chromosome in one. Prenatal ultrasound before the procedure showed that all chromosomally abnormal fetuses had additional findings. The prevalence of chromosomal abnormality in fetuses with spina bifida and cephalocele was higher when chromosome analysis was performed at or before 24 weeks of gestation in comparison to those performed after 24 weeks (5/31 (16%) vs. 4/56 (7%), respectively). However, this difference did not reach statistical significance, probably due to the small number of cases. CONCLUSIONS: A significant number of fetuses with open NTD are chromosomally abnormal. Although prenatal chromosome analysis should be considered in all cases, prenatal ultrasound seems effective in identifying those fetuses with an underlying chromosomal abnormality.

First-trimester echogenic amniotic fluid in the acrania-anencephaly sequence.

OBJECTIVE: To describe the association between echogenic amniotic fluid and first-trimester fetal acrania. METHODS: Nine fetuses with acrania were examined between 11 weeks' and 13 weeks 6 days' menstrual age for the presence of echogenic free-floating particles in the amniotic fluid. Cases were classified into 3 types according to the echogenicity of the amniotic fluid: similar to (type 0), slightly greater than (type 1), and clearly more echogenic than (type 2) that of the extracelomic fluid. RESULTS: In 1 pregnancy, no free-floating particles were identified (type 0). In 6 cases, small free-floating particles scattered within the amniotic cavity were identified, making the amniotic fluid slightly more echogenic than the extracelomic fluid (type 1). In the remaining 2 cases, the amniotic fluid was homogeneously and clearly more echogenic than the extracelomic fluid (type 2). CONCLUSIONS: A high percentage (89%) of fetuses with acrania had echogenic amniotic fluid, suggesting that this finding could potentially be used as a marker of fetal acrania in the first trimester. This finding also supports the hypothesis of the transition from acrania to anencephaly, with the unprotected brain undergoing progressive destruction from the first trimester, leading to the classic finding of anencephaly in the second trimester.

Iniencephaly: prenatal diagnosis and management.

Iniencephaly is a rare malformation characterized by the triad of occipital bone defect, cervical dysraphism and fixed retroflexion of the fetal head. Because of its almost invariable lethal prognosis, termination of pregnancy is commonplace when this condition is diagnosed before viability. In this report we describe eight cases of iniencephaly prenatally diagnosed by ultrasound between 18 and 28 weeks of gestation and discuss the subsequent obstetric management in a country where elective abortion is illegal. Prenatal karyotyping was performed in seven cases, revealing a normal complement in all fetuses. One pregnancy miscarried at 24 weeks. Uneventful vaginal delivery was accomplished in six of the remaining seven cases, one delivered spontaneously at 29 weeks and five were induced between 28-32 weeks due to increasing polyhydramnios. In the remaining case the pregnancy progressed to 35 weeks, at which time spontaneous labour began and an emergency Caesarean section was performed because of malpresentation. There were no survivors in this series. We conclude that, in countries were elective abortion is not allowed, women carrying an iniencephalic fetus may benefit from preterm induction of labour in order to avoid labour dystocia, maternal trauma during delivery and the risks of a Caesarean section.

Disrafismos / Dysraphism

Son los defectos del desarrollo ontogénico en la línea media dorsal embrionaria que llevan a anomalías óseas y neurológicas. Se enuncian los defectos de cierre y su incidencia dentro de la escoliosis congénita, siendo característica la presencia de alteraciones cutáneas y la consulta por problemas neuroortopédicos muchas veces presentes al nacimiento Se pone enf sis en la necesidad de buscarlos mediante TAC, RM y potenciales evocados antes de realizar, fundamentalmente, cirugía en esas columnas