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Cureus Dec 2023The present study aimed to review the treatment experience and outcomes of Currarino syndrome (CS) complicated with anorectal stenosis to evaluate the current treatment...
PURPOSE
The present study aimed to review the treatment experience and outcomes of Currarino syndrome (CS) complicated with anorectal stenosis to evaluate the current treatment strategies.
METHODS
Seven cases of CS complicated with anorectal stenosis, treated at our hospital between 1998 and 2021, were retrospectively investigated. This is a case series article from a single institution.
RESULTS
In six and three cases and one case, the presacral mass was a mature teratoma, meningocele, and lipoma, respectively. Resection of the lesion was performed in all six cases of mature teratoma, and duraplasty was performed before resection in all three cases of meningocele. Moreover, surgery for anorectal stenosis was performed simultaneously in four patients. Surgery was performed for six cases of anorectal stenosis, with the remaining case relieved by dilation using a metal bougie. The surgical methods used were a partial resection with end-to-end anastomosis, anorectal strictureplasty, pull-through, posterior sagittal anorectoplasty, and cutback after mass resection. Pathological analysis of the anorectal stenoses revealed disorganized and rough smooth muscle fibers and the replacement of the stroma by an increased quantity of collagen fibers.
CONCLUSIONS
The clinical outcomes of CS can be improved by establishing a treatment flow chart and understanding the complicated pathophysiology of the disease.
PubMed: 38226073
DOI: 10.7759/cureus.50512 -
Radiology Case Reports Jan 2021Iniencephaly (IE) is a rare neural tube malformation involving severe head retroflexion and deformity of the spine. IE is typically accompanied with other congenital...
Iniencephaly (IE) is a rare neural tube malformation involving severe head retroflexion and deformity of the spine. IE is typically accompanied with other congenital abnormalities and carrying a poor fetal prognosis. This report presents radiological findings in a rare case of IE associated with multiple malformations of the skull, spine, face, heart, and body. A 44-year-old pregnant female underwent an obstetric ultrasound examination on the 26th week of gestation followed by fetal magnetic resonance imaging on the 36th week. Imaging revealed complex developmental anomalies, which led to the diagnosis of IE with a large cervical meningocele, occipital bone defect, spina bifida of the cervical vertebrae, multiple malformed vertebra, deformed face, coarctation of the aortic arch, and hypoplastic lungs. Based on these findings, a decision to terminate pregnancy was made. Pathological examination of the fetus showed close agreement with imaging. The presented case underscores the importance of multimodal imaging for clinical decision making in the management of complex neural tube malformations.
PubMed: 33294089
DOI: 10.1016/j.radcr.2020.11.003 -
The spectrum of venous anomalies associated with atretic parietal cephaloceles: A literature review.Surgical Neurology International 2021Parietal atretic cephalocele (PAC) is a small, subscalp lesion with underlying extracranial meningeal, neural, and glial tissues. In this paper, we analyze the related... (Review)
Review
BACKGROUND
Parietal atretic cephalocele (PAC) is a small, subscalp lesion with underlying extracranial meningeal, neural, and glial tissues. In this paper, we analyze the related literature on the continuum of PAC-associated venous anomalies and report an exemplary case.
METHODS
The PubMed Medline database was searched using the following search algorithm: (Atretic encephalocele) OR (Rudimentary meningocele,) OR (Atypical meningocele) OR (Meningocele manqué) OR (Meningeal heterotopia). Only papers detailing the venous anomalies associated with PACs have been included.
RESULTS
A total of 30 papers in our search documented PAC-associated venous abnormalities. The overall number of cases reported was 68 (including our exemplary case). The most frequently identified associated venous anomaly was the presence of a "fenestrated superior sagittal sinus" recorded in 48.5% of cases ( = 33), followed closely by "persistent falcine sinus" in 47% ( = 32) and vertical embryonic positioning of the straight sinus (SS) in 44% ( = 30). The complete absence of a SS was reported in 39.7% ( = 27) and various anomalies of the Galenic system were reported in 26.8% of cases ( = 12).
CONCLUSION
Although benign in nature, PACs are often a marker for the presence of complex and variable cerebral venous malformations, requiring extensive preoperative imaging workup for both the superficial and deep venous systems to obtain an accurate understanding of the anatomy of the venous system and guide surgical planning.
PubMed: 34345467
DOI: 10.25259/SNI_943_2020 -
Turkish Neurosurgery 2021To investigate the effect of the number of open vertebral segments on the prognosis of newborns with midline closure defects (MCD), and the optimal timing for...
AIM
To investigate the effect of the number of open vertebral segments on the prognosis of newborns with midline closure defects (MCD), and the optimal timing for ventriculoperitoneal shunt (VPS) placement in those with MCD accompanied by hydrocephalus.
MATERIAL AND METHODS
A total of 63 patients (35 girls and 28 boys) were admitted to the neonatal intensive care unit between April 2016 and January 2019. The patients? MCDs were examined in terms of type, localization, number of open vertebral segments, accompanying hydrocephalus (HC), surgical technique, and complications.
RESULTS
The mean follow-up period was 12 months (6-24 months). Ten cases of meningocele (M) (15.9%), 41 cases of myelomeningocele (MM) (65%), and 12 cases of encephalocele (E) (19.1%) were identified. A VPS was inserted in 44 (69.8%) patients (E, 8; MM, 34; and M, 2), performed in 33 patients during the same admission, while 11 were shunted after discharge during the follow-up period. Thirty-four of the 41 cases of MM and all cases of M and E were primarily closed, while the remaining MMs required skin flaps. The M and MM cases were categorized according to the number of open vertebral segments and examined in terms of neurological deficit, length of hospital stay, and complications.
CONCLUSION
In all pediatric cases, case-by-case evaluation, attention to hypothermia and meticulous hemostasis, protection of functional neural tissue, closing the defect as soon as possible, and treating accompanying HC during the same session, were considered. Additionally, the neural tissue density correlated with the number of open vertebral segments and it was considered prognostically more valuable.
Topics: Child; Female; Humans; Hydrocephalus; Infant, Newborn; Male; Meningomyelocele; Prognosis; Retrospective Studies; Surgeons; Ventriculoperitoneal Shunt
PubMed: 34374982
DOI: 10.5137/1019-5149.JTN.32611-20.4 -
Acta Bio-medica : Atenei Parmensis Jul 2021Myelomeningocele is a congenital malformation caused by a developmental defect of the spinal cord structures. The exactcause is unknown, but different factors have...
Myelomeningocele is a congenital malformation caused by a developmental defect of the spinal cord structures. The exactcause is unknown, but different factors have been involved includingradiation, malnutrition, drugs. Myelomeningocele can develop at any point in the spine, but the lumbosacral region is affected in over 75% of cases. Chest X-raysand computed tomography study are mandatory to reveal tracheal malformations or associatedanomaliesof the ribs. Treatment of myelomeningocele must be multidisciplinary and involve at the same time neurologists, radiologists, neurosurgeons, thoracic surgeons, bioethical experts and take care of the childand also of the family. Some experiences concern the possibility of a in-utero correction of myelomeningocele, in order to avoiding serious and progressive damages to the nervoussystem. Given the improvement of myelomeningocele management, the quality of life is nowadays more acceptable than in the past; however, some severe forms of myelomeningocele cannot still be corrected: in this cases, a "non-interventional" approach may require a form of passive euthanasia that should be discussed and approved with and by parents and Any dissent of the parents must be respected and considered reasonable. The choice of a "non-intervention", which should be guaranteed to all the people capable of self-determination, is not however so immediate and direct in the case of the minor: the dissent expressed on his behalf by the parents or legal representative may be ethically difficult to be accepted.In this case, the best interest of the child must prevail as the goal of any therapeutic choice.
Topics: Child; Humans; Lumbosacral Region; Meningocele; Meningomyelocele; Quality of Life; Spine
PubMed: 34212901
DOI: 10.23750/abm.v92i3.11600 -
Surgery Journal (New York, N.Y.) Apr 2022Mediastinal cysts are benign lesions that may be seen in adulthood as well as in childhood. Mostly congenital lesions constitute 20 to 32% of lesions located in the...
Mediastinal cysts are benign lesions that may be seen in adulthood as well as in childhood. Mostly congenital lesions constitute 20 to 32% of lesions located in the mediastinum. The main cystic masses are congenital benign cysts (bronchogenic, esophageal replications, neuroenteric, pericardial and thymic cysts), meningocele, mature cystic teratoma, and lymphangioma. In this study, we aimed to analyze the mediastinal cysts operated in our clinic according to the histopathological type, surgical type, morbidity rates and to contribute to the literature on these rare lesions. The records of patients with mediastinal cysts who were operated in Gazi University Faculty of Medicine Department of Thoracic Surgery, between January 2013 and June 2021, were reviewed retrospectively. A total of 32 patients were included the study. Thirteen (40.6%) of the patients were male and 19 (59.4%) were female. The mean age was 45 (range: 12-71). The most common symptom in patients was chest pain with 12 patients. Histopathologically, the most common subtype was thymic cyst. Video-assisted thoracic surgery was applied in 19 patients (59.3%), thoracotomy in 8 patients (25%), and sternotomy in 5 patients (15.63%). There was no mortality. In patients with mediastinal cysts, the prognosis after complete excision is excellent and rates of morbidity and mortality associated with surgery are low.
PubMed: 35783027
DOI: 10.1055/s-0042-1749429 -
Journal of Neurological Surgery. Part... Feb 2020The purpose of this study is to specifically assess pediatric patients with nonpneumatized sphenoid sinuses who have undergone transsphenoidal resections of skull...
The purpose of this study is to specifically assess pediatric patients with nonpneumatized sphenoid sinuses who have undergone transsphenoidal resections of skull base tumors and assess the complications and outcomes. Data was collected by a retrospective chart review done on children ages 7 and under who underwent endoscopic tumor resection and had a partially or completely nonpneumatized sphenoid sinus on preoperative computed tomography imaging. Surgical data collected included surgical corridor, gross total versus subtotal resection, repair method, use of septal flap, intraoperative and postoperative cerebrospinal fluid leak, and estimated blood loss. Six patients were identified that fit our inclusion criteria who underwent surgery between November 2015 and April 2018 (3 males, 3 females; average age = 4.28 years). Tumor pathologies include three craniopharyngiomas, Rathke cleft cyst, meningocele, and neuroblastoma. All cases involved varying percentages of sphenoid sinus pneumatization. All cases except one craniopharyngioma and the neuroblastoma required removal of cancellous bone to access pathology. Degree of sphenoid pneumatization tended to be greater with age and resulted in less intraoperative bleeding. The two youngest patients with completely nonpneumatized sphenoid sinuses lost 61.73 and 17.52% of their total blood volume intraoperatively. Procedures were able to be adequately performed and pathology completely addressed with minimal postoperative complications and no postoperative CSF leaks. Intraoperative challenges including hemorrhage are likely in nonpneumatized patients, and thus surgeons should be prepared with adequate vascular access and blood products. Hemorrhage and total blood volume loss are increased in the younger patients with no sphenoid pneumatization. Despite the additional challenges, a nonpneumatized sphenoid sinus is not a contraindication for an endoscopic resection in the pediatric population.
PubMed: 32021750
DOI: 10.1055/s-0039-1679895 -
Birth Defects Research Apr 2022Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have...
BACKGROUND
Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one has examined exomes of children with non-syndromic SA.
METHODS
Using buccal cell specimens from families of children with non-syndromic SA, exomes of 28 child-parent trios (eight with and 20 without a maternal diagnosis of pregestational diabetes) and two child-father duos (neither with diagnosis of maternal pregestational diabetes) were exome sequenced.
RESULTS
Three children had heterozygous missense variants in ID1 (Inhibitor of DNA Binding 1), with CADD scores >20 (top 1% of deleterious variants in the genome); two children inherited the variant from their fathers and one from the child's mother. Rare missense variants were also detected in PDZD2 (PDZ Domain Containing 2; N = 1) and SPTBN5 (Spectrin Beta, Non-erythrocytic 5; N = 2), two genes previously suggested to be associated with SA etiology. Examination of variants with autosomal recessive and X-linked recessive inheritance identified five and two missense variants, respectively. Compound heterozygous variants were identified in several genes. In addition, 12 de novo variants were identified, all in different genes in different children.
CONCLUSIONS
To our knowledge, this is the first study reporting a possible association between ID1 and non-syndromic SA. Although maternal pregestational diabetes has been strongly associated with SA, the missense variants in ID1 identified in two of three children were paternally inherited. These findings add to the knowledge of gene variants associated with non-syndromic SA and provide data for future studies.
Topics: Abnormalities, Multiple; Exome; Humans; Infant; Meningocele; Sacrococcygeal Region
PubMed: 35274497
DOI: 10.1002/bdr2.1987 -
Environment International Dec 2021Neural tube defects are a pressing public health concern despite advances in prevention from folic acid-based strategies. Numerous chemicals, in particular arsenic, have...
BACKGROUND
Neural tube defects are a pressing public health concern despite advances in prevention from folic acid-based strategies. Numerous chemicals, in particular arsenic, have been associated with neural tube defects in animal models and could influence risk in humans.
OBJECTIVES
We investigated the relationship between parental exposure to arsenic and 17 metals and risk of neural tube defects (myelomeningocele and meningocele) in a case control study in Bangladesh.
METHODS
Exposure assessment included analysis of maternal and paternal toenail samples using inductively coupled plasma mass spectrometry (ICP-MS). A total of 278 participants (155 cases and 123 controls) with data collected from 2016 to 2020 were included in the analysis.
RESULTS
In the paternal models, a one-unit increase in the natural logarithm of paternal toenail arsenic was associated with a 74% (odds ratio: 1.74, 95% confidence interval: 1.26-2.42) greater odds of having a child with spina bifida, after adjusting for relevant covariates. Additionally, paternal exposure to aluminum, cobalt, chromium, iron, selenium, and vanadium was associated with increased odds of having a child with spina bifida in the adjusted models. In the maternal models, a one-unit increase in the natural logarithm of maternal toenail selenium and zinc levels was related to a 382% greater (odds ratio: 4.82, 95% confidence interval: 1.32-17.60) and 89% lower (odds ratio: 0.11, 95% confidence interval: 0.03-0.42) odds of having a child with spina bifida in the adjusted models, respectively. Results did not suggest an interaction between parental toenail metals and maternal serum folate.
DISCUSSION
Parental toenail levels of numerous metals were associated with increased risk of spina bifida in Bangladeshi infants. Paternal arsenic exposure was positively associated with neural tube defects in children and is of particular concern given the widespread arsenic poisoning of groundwater resources in Bangladesh and the lack of nutritional interventions aimed to mitigate paternal arsenic exposure. The findings add to the growing body of literature of the impact of metals, especially paternal environmental factors, on child health.
Topics: Arsenic; Bangladesh; Case-Control Studies; Humans; Male; Risk Factors; Spinal Dysraphism
PubMed: 34358915
DOI: 10.1016/j.envint.2021.106800 -
Maedica Sep 2021Cephaloceles are the neural tube defects occurring at a rate of one per 5 000 live births worldwide. It indicates herniation of meninges or meninges with brain tissue...
Cephaloceles are the neural tube defects occurring at a rate of one per 5 000 live births worldwide. It indicates herniation of meninges or meninges with brain tissue through defect in the cranium. We describe an interesting case report of a one-day old male neonate with giant occipital meningocele with aplasia of occipital bone. This is the first case with a history of consanguinity reported in the literature so far. The size of the meningocele sac was greater than the that of the head. A plain computed tomography of the brain showed a 136 mm x 129 mm well defined cerebrospinal fluid attenuated hypodense lesion herniating through calvaria defect on occipital region, with no neural elements, suggestive of giant occipital meningocele. All efforts should be made to diagnose cranial or spinal dysraphism during antenatal screening meticulously following a careful history taking, clinical examination and ultrasonography scan in the first trimester, followed by folic acid supplementation, mandatory through legislation.
PubMed: 34925615
DOI: 10.26574/maedica.2020.16.3.534