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Surgical Neurology International 2023Dandy-Walker syndrome (DWS) is a well-known developmental anomaly. An occipital meningocele (OMC) is recognized as a malformation that is relatively often associated...
BACKGROUND
Dandy-Walker syndrome (DWS) is a well-known developmental anomaly. An occipital meningocele (OMC) is recognized as a malformation that is relatively often associated with DWS, but the association of DWS with OMC has been reported in approximately 40 cases. We present herein a rare clinical course of DWS with OMC, in which the sac was small at birth and became progressively larger.
CASE DESCRIPTION
A 5-day-old baby boy was referred to our hospital due to OMC. He was born at 33 gestational weeks due to premature rupture of the membranes. He was diagnosed as having DWS associated with OMC. The OMC was covered with skin and its maximum diameter at birth was 3 cm. Magnetic resonance imaging showed an occipital bone defect and continuity of the fourth ventricle, posterior fossa cyst, and OMC sac. The aqueduct was patent, and no hydrocephalus was found. The OMC sac increased progressively with moderate hydrocephalus and reached 7 cm at the age of 54 days when his weight was 2508 g. A cystoperitoneal shunt and repair were performed after sinus venography by contrast computed tomography (CT). At the age of 1 year and 8 months, he had moderate developmental disabilities.
CONCLUSION
In most cases reported, the OMC was relatively small, and large and giant sizes were reported in only six cases. Almost all cases remained the same size as at birth and underwent surgical intervention as early as possible. It was possible to understand the relationship between the occipital bone defect and abnormal running of sinuses such as the superior sagittal sinus, torcular Herophili, and transverse sinus preoperatively from the CT venography (CTV) image. CTV may be an effective and important method for safely performing repair and shunt.
PubMed: 37941619
DOI: 10.25259/SNI_585_2023 -
Cureus Oct 2023Fetal ventriculomegaly, the most commonly identified abnormality of the fetal central nervous system (CNS), has been associated with elevated levels of the modified...
INTRODUCTION
Fetal ventriculomegaly, the most commonly identified abnormality of the fetal central nervous system (CNS), has been associated with elevated levels of the modified myocardial performance index (mMPI). However, the impact of other CNS pathologies on mMPI has not yet been evaluated. This study aimed to investigate whether there were changes in the myocardial performance index of fetuses with CNS pathologies without congenital heart diseases.
METHODS
A total of 126 singleton pregnant women were included in this study. Sixty-three fetuses had fetal CNS abnormalities of acrania, anencephaly, encephalocele, Dandy-Walker malformation, hydrocephalus, and meningocele. The control group consisted of 63 healthy and gestational age-matched fetuses. All ultrasonographic examinations were done in the second trimester of gestation. The data related to the characteristics of pregnant women were evaluated, and fetal left ventricular mMPI was obtained by ultrasound scan.
RESULTS
The study and the control group participants were not significantly different by means of pregnancy characteristics. The mean mMPI was higher in the fetal CNS malformation group compared to the control groups (0.39±0.02 vs. 0.45±0.04, P<0.001). The mean mMPI value was similar for fetuses with both closed and open calvarium defects of fetal CNS malformation.
CONCLUSION
Fetal CNS anomalies may be associated with prenatal cardiac dysfunction. Moreover, this relationship might be independent of the type of fetal CNS malformation, whether a closed or open calvarium defect.
PubMed: 37859680
DOI: 10.7759/cureus.47287 -
Journal of Radiology Case Reports Oct 2023Persistent craniopharyngeal canal (PCC) is a rare congenital anomaly that appears as a linear well-corticated canal running from the sella through the clivus and into...
Persistent craniopharyngeal canal (PCC) is a rare congenital anomaly that appears as a linear well-corticated canal running from the sella through the clivus and into the nasopharynx. Case reports of this anomaly have shown it is associated with a range of craniofacial defects, pituitary abnormalities, and meningoencephaloceles. It predisposes patients to bacterial meningitis. In this case a 46-year-old gentleman presenting for preoperative planning for surgical drainage of Potts Puffy tumor was found to have a PCC on CT and MRI. Imaging also demonstrated the presence of chronic inflammation and a fistula extending from the tract into the sphenoid sinus. This unusual presentation of a PCC with a sphenoid sinus fistula broadens the potential clinical presentations of PCC and further emphasizes the ability of this anomaly to serve as a conduit for CNS infection.
Topics: Male; Humans; Middle Aged; Sphenoid Sinus; Encephalocele; Meningocele; Magnetic Resonance Imaging
PubMed: 38343882
DOI: 10.3941/jrcr.v17i8.4707 -
Frontiers in Neurology 2024Fetal-neonatal neurologists (FNNs) consider diagnostic, therapeutic, and prognostic decisions strengthened by interdisciplinary collaborations. Bio-social perspectives... (Review)
Review
Fetal-neonatal neurologists (FNNs) consider diagnostic, therapeutic, and prognostic decisions strengthened by interdisciplinary collaborations. Bio-social perspectives of the woman's health influence evaluations of maternal-placental-fetal (MPF) triad, neonate, and child. A dual cognitive process integrates "fast thinking-slow thinking" to reach shared decisions that minimize bias and maintain trust. Assessing the science of uncertainty with uncertainties in science improves diagnostic choices across the developmental-aging continuum. Three case vignettes highlight challenges that illustrate this approach. The first maternal-fetal dyad involved a woman who had been recommended to terminate her pregnancy based on an incorrect diagnosis of an encephalocele. A meningocele was subsequently identified when she sought a second opinion with normal outcome for her child. The second vignette involved two pregnancies during which fetal cardiac rhabdomyoma was identified, suggesting tuberous sclerosis complex (TSC). One woman sought an out-of-state termination without confirmation using fetal brain MRI or postmortem examination. The second woman requested pregnancy care with postnatal evaluations. Her adult child experiences challenges associated with TSC sequelae. The third vignette involved a prenatal diagnosis of an open neural tube defect with arthrogryposis multiplex congenita. The family requested prenatal surgical closure of the defect at another institution at their personal expense despite receiving a grave prognosis. The subsequent Management of Myelomeningocele Study (MOMS) would not have recommended this procedure. Their adult child requires medical care for global developmental delay, intractable epilepsy, and autism. These three evaluations involved uncertainties requiring shared clinical decisions among all stakeholders. Falsely negative or misleading positive interpretation of results reduced chances for optimal outcomes. FNN diagnostic skills require an understanding of dynamic gene-environment interactions affecting reproductive followed by pregnancy exposomes that influence the MPF triad health with fetal neuroplasticity consequences. Toxic stressor interplay can impair the neural exposome, expressed as anomalous and/or destructive fetal brain lesions. Functional improvements or permanent sequelae may be expressed across the lifespan. Equitable and compassionate healthcare for women and families require shared decisions that preserve pregnancy health, guided by person-specific racial-ethnic, religious, and bio-social perspectives. Applying developmental origins theory to neurologic principles and practice supports a brain health capital strategy for all persons across each generation.
PubMed: 38352135
DOI: 10.3389/fneur.2024.1335933 -
JAMA Ophthalmology Nov 2023
Topics: Humans; Meningocele; Optic Nerve; Optic Nerve Diseases
PubMed: 37971508
DOI: 10.1001/jamaophthalmol.2023.2469 -
Neuro-Chirurgie Sep 2023Intrasacral meningoceles are cysts associated with herniating arachnoid with no nerve root within due to an area of weakness of the dura mater. They are thought to be...
INTRODUCTION
Intrasacral meningoceles are cysts associated with herniating arachnoid with no nerve root within due to an area of weakness of the dura mater. They are thought to be congenital, but they are usually not symptomatic until adulthood. Surgical treatment is generally indicated in the presence of symptoms.
METHODS
We selected cases belonging to the IB category of Nabors et al.'s classification who underwent surgery between 2008 and 2021 at Giannina Gaslini Hospital. Exclusion criteria were prior history of trauma, infections, or operations. Patients' clinical details, associated conditions, surgical techniques, peri- and postoperative complications, and outcomes were collected retrospectively from clinical charts. We compared our series to literature: keywords "intrasacral meningocele" were used on the search engine MEDLINE - Pubmed.
RESULTS
We identified 23 cases: 5 of the 14 symptomatic patients had a complete resolution, and 5 had a substantial clinical improvement after surgery. Cyst recurrence and major postoperative complication occurred in none. Among 59 articles considered for evaluation, 50 were excluded and remaining 9 articles underwent full-text analysis.
DISCUSSION AND CONCLUSION
The pathogenesis of instrasacral meningoceles is still not completely understood and the spectrum of symptoms is wide. A posterior surgical approach with sacral laminectomy is preferred, although in selected cases it is possible to perform a supplemental anterior approach (sometimes endoscopic). In our surgical series, the largest one published in the literature, a good clinical outcome was achieved in most patients with no cyst's recurrence, pointing out the importance of surgical interruption of communication between cyst and subdural space.
Topics: Humans; Adult; Meningocele; Retrospective Studies; Laminectomy; Cysts; Endoscopy; Arachnoid Cysts
PubMed: 37400014
DOI: 10.1016/j.neuchi.2023.101466 -
Ear, Nose, & Throat Journal Sep 2023Meningoencephalocele is an abnormal skull base protrusion of fluid, brain tissue, and meninges that can lead to nasal obstruction, meningitis, and Cerebrospinal Fluid...
Meningoencephalocele is an abnormal skull base protrusion of fluid, brain tissue, and meninges that can lead to nasal obstruction, meningitis, and Cerebrospinal Fluid (CSF) rhinorrhea. This condition can be managed operatively through an open craniotomy or a less invasive endoscopic approach. Here, we report a case of an 18-month-old female who presented with a meningoencephalocele that was part of the Sakoda complex, a rare neurosurgical phenomenon consisting of meningoencephalocele, agenesis of the corpus callosum, and cleft lip/palate. The patient was initially treated with the endoscopic transsphenoidal approach with subsequent open craniotomy.
Topics: Humans; Child; Female; Infant; Cleft Lip; Cleft Palate; Skull Base; Encephalocele; Meningocele; Endoscopy; Cerebrospinal Fluid Rhinorrhea
PubMed: 37574852
DOI: 10.1177/01455613231187760 -
Birth Defects Research Jan 2024Skeletal development requires precise extrinsic and intrinsic signals to regulate processes that form and maintain bone and cartilage. Notch1 is a highly conserved...
BACKGROUND
Skeletal development requires precise extrinsic and intrinsic signals to regulate processes that form and maintain bone and cartilage. Notch1 is a highly conserved signaling receptor that regulates cell fate decisions by controlling the duration of transcriptional bursts. Epigenetic molecular events reversibly modify DNA and histone tails by influencing the spatial organization of chromatin and can fine-tune the outcome of a Notch1 transcriptional response. Histone deacetylase 1 and 2 (HDAC1 and HDAC2) are chromatin modifying enzymes that mediate osteoblast differentiation. While an HDAC1-Notch interaction has been studied in vitro and in Drosophila, its role in mammalian skeletal development and disorders is unclear. Osteosclerosis is a bone disorder with an abnormal increase in the number of osteoblasts and excessive bone formation.
METHODS
Here, we tested whether Hdac1/2 contribute to the pathogenesis of osteosclerosis in a murine model of the disease owing to conditionally cre-activated expression of the Notch1 intracellular domain in immature osteoblasts.
RESULTS
Importantly, selective homozygous deletions of Hdac1/2 in osteoblasts partially alleviate osteosclerotic phenotypes (Col2.3kb-Cre; TG ; Hdac1 ; Hdac2 ) with a 40% decrease in bone volume and a 22% decrease in trabecular thickness in 4 weeks old when compared to male mice with heterozygous deletions of Hdac1/2 (Col2.3 kb-Cre; TG ; Hdac1 ; Hdac2 ). Osteoblast-specific deletion of Hdac1/2 in male and female mice results in no overt bone phenotype in the absence of the Notch1 gain-of-function (GOF) allele.
CONCLUSIONS
These results provide evidence that Hdac1/2 contribute to Notch1 pathogenic signaling in the mammalian skeleton. Our study on epigenetic regulation of Notch1 GOF-induced osteosclerosis may facilitate further mechanistic studies of skeletal birth defects caused by Notch-related GOF mutations in human patients, such as Adams-Oliver disease, congenital heart disease, and lateral meningocele syndrome.
Topics: Mice; Animals; Humans; Male; Female; Gain of Function Mutation; Epigenesis, Genetic; Osteoblasts; Osteosclerosis; Chromatin; Mammals; Histone Deacetylase 2
PubMed: 37921375
DOI: 10.1002/bdr2.2266 -
Plastic and Reconstructive Surgery.... Mar 2024The differential diagnosis of large congenital scalp defects includes aplasia cutis and encephalocele, among others. Treatment includes conservative management with...
The differential diagnosis of large congenital scalp defects includes aplasia cutis and encephalocele, among others. Treatment includes conservative management with dressings or operative management with dermal substitutes, skin grafting, local flaps, and free flaps. This case report discusses the technical considerations and reconstructive strategies for repair of a meningocele in a newborn with a large 5.5-cm scalp defect. The key strategies include preemptive cerebrospinal fluid (CSF) diversion with external ventricular drain to reduce the risk of CSF leak and mitigate wound-healing complications; careful identification and avoidance of key anatomic structures, such as the superior sagittal sinus, as anatomy may be significantly distorted due to the presence of a meningocele and after CSF diversion; and careful, thoughtful design of the local scalp flaps to maximize blood supply and to avoid tension on the final reconstruction.
PubMed: 38463706
DOI: 10.1097/GOX.0000000000005663 -
Child's Nervous System : ChNS :... Aug 2023Amniotic band syndrome (ABS) is a rare congenital disease characterized by a broad spectrum of congenital anomalies resulting from the strangulated developing organ(s)... (Review)
Review
BACKGROUND
Amniotic band syndrome (ABS) is a rare congenital disease characterized by a broad spectrum of congenital anomalies resulting from the strangulated developing organ(s) by the detached fibrous amniotic band. The prevalence of CNS involvement in ABS is rare, but the mortality rate in these cases is high, while morbidity among the surviving patients is inevitable.
CASE REPORT
Three-month-old male, 9-month-old female, and newborn female babies were presented with head lump(s), severe facial cleft, syndactyly, and finger amputation. The patient's head imaging confirmed meningoencephalocele as the cause of the head lump in 2 patients; meanwhile, a porencephalic cyst was identified as the origin of head lumps in the other patient. VP shunt placement surgery was performed as the initial management in 2 patients, while one patient directly underwent meningoencephalocele resection surgery. Craniofacial and limb reconstructions were planned as the follow-up management in all cases. Unfortunately, one patient died of complications from suspected aspiration, while another never returned for follow-up treatment.
CONCLUSION
Here, we report 3 ABS cases with CNS involvement. Despite the severe disfigurement and disability, the inexistence of fatal malformation might lead to long-term survival. The treatment of malformation(s) that might predispose to another fatal condition and surgery(-ies) to improve functional outcomes and patient's social acceptability should be prioritized in managing the surviving ABS patients.
Topics: Female; Humans; Infant; Infant, Newborn; Male; Amniotic Band Syndrome; Central Nervous System Neoplasms; Cleft Palate; Encephalocele; Facial Bones; Meningocele; Neoplasms, Second Primary; Neurosurgeons
PubMed: 37266681
DOI: 10.1007/s00381-023-06008-w