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Journal of Personalized Medicine Apr 2024Spontaneous orbital cephaloceles are a rare condition. The purpose of this study is to provide a description of a clinical case and to carry out a systematic literature... (Review)
Review
BACKGROUND
Spontaneous orbital cephaloceles are a rare condition. The purpose of this study is to provide a description of a clinical case and to carry out a systematic literature review.
METHODS
A systematic review of the English literature published on the Pubmed, Scopus, and Web of Science databases was conducted, according to the PRISMA recommendations.
RESULTS
A 6-year-old patient was admitted for right otomastoiditis and thrombosis of the sigmoid and transverse sinuses, as well as the proximal portion of the internal jugular vein. Radiological examinations revealed a left orbital mass (22 × 14 mm) compatible with asymptomatic orbital meningocele (MC) herniated from the superior orbital fissure (SOF). The child underwent a right mastoidectomy. After the development of symptoms and signs of intracranial hypertension (ICH), endovascular thrombectomy and transverse sinus stenting were performed, with improvement of the clinical conditions and reduction of the orbital MC. The systematic literature review encompassed 29 publications on 43 patients with spontaneous orbital MC. In the majority of cases, surgery was the preferred treatment.
CONCLUSIONS
The present case report and systematic review highlight the importance of ICH investigation and a pathophysiological-oriented treatment approach. The experiences described in the literature are limited, making the collection of additional data paramount.
PubMed: 38793047
DOI: 10.3390/jpm14050465 -
The Laryngoscope May 2024We undertook a systematic review of the literature with meta-analysis to identify the role of obesity (BMI ≥30) in the patient characteristics presenting with... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
We undertook a systematic review of the literature with meta-analysis to identify the role of obesity (BMI ≥30) in the patient characteristics presenting with spontaneous cerebrospinal fluid (sCSF) leaks of the lateral skull base and the outcomes of their repair.
DATA SOURCES
A Systematic Review of English Articles using MEDLINE, EMBASE, and Cochrane Library.
REVIEW METHODS
The research algorithm included the following keywords: "spontaneous CSF leak," "lateral skull base," "temporal bone," "meningocele," "encephalocele," and "otorrhea." We also manually searched the references of included studies, to identify possible studies missed during our literature search.
RESULTS
More than two-thirds of the patients were female (69.2%) and often were obese (mean BMI 36.5 kg/m) with a mean age of 57. Most common presenting symptoms were otorrhea and hearing loss. Most authors did not report a routine use of a post-operative lumbar drain. Most patients had a single skull base defect and encephaloceles prolapsing through, across obese and non-obese groups. Median length of stay in hospital was 3.2 days, and the majority of patients did not have any recurrence during their follow-up (89.6%), which was not affected by obesity.
CONCLUSION
Obesity does not affect length of hospital stay or recurrence rate following surgical repair of lateral skull base sCSF leaks. Surgical repair is a safe and viable approach in the management of obese patients with sCSF leaks in the temporal bone.
LEVEL OF EVIDENCE
NA Laryngoscope, 134:2012-2018, 2024.
Topics: Humans; Female; Middle Aged; Male; Retrospective Studies; Treatment Outcome; Skull Base; Cerebrospinal Fluid Leak; Obesity; Temporal Bone; Encephalocele
PubMed: 38400793
DOI: 10.1002/lary.31349 -
Otolaryngology--head and Neck Surgery :... Jul 2024To review surgical techniques used in the endoscopic transnasal repair of pediatric basal meningoencephaloceles and compare perioperative outcomes in children <2 and... (Review)
Review
OBJECTIVE
To review surgical techniques used in the endoscopic transnasal repair of pediatric basal meningoencephaloceles and compare perioperative outcomes in children <2 and ≥2 years old.
DATA SOURCES
MEDLINE, EMBASE, and CENTRAL.
REVIEW METHODS
Data sources were searched from inception to August 22, 2022, using search terms relevant to endoscopic transnasal meningoencephalocele repair in children. Reviews and Meta-analyses were excluded. Primary outcomes were the incidence of intraoperative and postoperative complications, including cerebrospinal fluid leak, recurrence, and reintervention. Quality assessments were performed using Newcastle-Ottawa Scale, ROBIN-I, and NIH.
RESULTS
Overall, 217 patients across 61 studies were identified. The median age at surgery was 4 years (0-18 years). Fifty percent were female; 31% were <2 years. Most defects were meningoencephaloceles (56%), located transethmoidal (80%), and of congenital origin (83%). Seventy-five percent of repairs were multilayered. Children ≥2 years underwent multilayer repairs more frequently than those <2 years (P = 0.004). Children <2 years more frequently experienced postoperative cerebrospinal fluid leaks (P = 0.02), meningoencephalocele recurrence (P < 0.0001), and surgical reintervention (P = 0.005). Following multilayer repair, children <2 years were more likely to experience recurrence (P = 0.0001) and reintervention (P = 0.006).
CONCLUSION
Younger children with basal meningoencephaloceles appear to be at greater risk of postoperative complications following endoscopic endonasal repair, although the quality of available evidence is weakened by incomplete reporting. In the absence of preoperative cerebrospinal fluid leak or meningitis, it may be preferable to delay surgery as access is more conducive to successful repair in older children.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Encephalocele; Endoscopy; Meningocele; Natural Orifice Endoscopic Surgery; Nose; Postoperative Complications; Male; Infant, Newborn
PubMed: 38494838
DOI: 10.1002/ohn.711 -
Child's Nervous System : ChNS :... Jul 2024Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial... (Review)
Review
INTRODUCTION
Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial polydactyly. Identified by Johann Friederich Meckel in 1822, MKS is categorized as a ciliopathy due to gene mutations. Diagnosis is confirmed by the presence of at least two key features. The condition is incompatible with life, leading to death in the womb or shortly after birth. Recent studies have largely focused on the genetic aspects of MKS, with limited information regarding the impact of neurosurgical approaches, particularly in treating encephaloceles.
METHODS
A systematic review was performed according to the PRISMA statement. The PubMed, Embase, and Web of Science databases were consulted for data screening and extraction, which was conducted by two independent reviewers. The search strategy aimed to encompass studies documenting cases of MKS with published reports of encephalocele excisions, and the search strings for all databases were: Meckel-Gruber syndrome OR Meckel Gruber syndrome OR Meckel-gruber OR Meckel Gruber.
RESULTS
The study included 10 newborns with MKS associated with occipital encephalocele or meningocele, all of whom underwent surgical repair of the occipital sac. The mean gestational age at birth was 36 (± 2) weeks. The mean of birth weight was 3.14 (± 0.85) kilograms. The average head circumference at birth was 33.82 cm (± 2.17). The mean diameter of the encephalocele/meningocele was 5.91 (± 1.02) cm. Other common central nervous system abnormalities included hydrocephalus, Dandy-Walker malformation, and agenesis of the corpus callosum. 40% required shunting for hydrocephalus. Surgery to remove the occipital sac occurred at a median age of 2.5 days (1.5-6.5). The most common post-surgical complication was the need for mechanical ventilation. The most common cause of death was pneumonia and the median age at death was 6.66 (0.03-18) months.
CONCLUSION
Our findings suggest that neurosurgical intervention, especially for managing encephaloceles, may offer some improvement in survival, albeit within a context of generally poor prognosis. However, these results should be interpreted with caution.
Topics: Humans; Encephalocele; Retinitis Pigmentosa; Neurosurgical Procedures; Ciliary Motility Disorders; Polycystic Kidney Diseases; Eye Abnormalities; Infant, Newborn
PubMed: 38459147
DOI: 10.1007/s00381-024-06346-3 -
Child's Nervous System : ChNS :... Jan 2024Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple... (Review)
Review
Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple café-au-lait spots, lentiginous macules, Lisch nodules of the iris, and tumors of the nervous system. Bony manifestations such as scoliosis, dysplasia of the greater sphenoidal wing, tibial pseudoarthrosis, short stature, and macrocephaly have been reported in approximately 50% of patients. However, calvarial bone defects are rare. After screening 324 articles, 23 cases (12 adult and 11 pediatric patients) of occipital bone defects in NF1 patients were selected. All patients had a single/multiple bone defect over the lambdoid suture. Adjacent benign plexiform neurofibromas were observed in 14 patients (60.8%, 7 adults and 7 children); one adult patient was diagnosed with neurofibrosarcoma. Meningoencephalocele over the occipital defect was noted in 8 cases (34.78%, all adults). Cranioplasty was performed in only 17.39% of patients. Histologic examination was performed in 7 of the 15 patients with associated neurofibromas/neurofibrosarcomas. Biopsy of the bone margins surrounding the defect was performed in only one case. Pathologic examination of the herniated parieto-occipital or cerebellar tissue was not performed in any of the patients studied. We report the case of a 9-year-old girl with NF1 and a significant occipital bone defect and performed a systematic review of the relevant literature to highlight the challenges in treating this condition and to investigate the underlying mechanisms contributing to bone defects or dysplasia in NF1.
Topics: Adult; Female; Humans; Child; Neurofibromatosis 1; Cafe-au-Lait Spots; Mutation; Encephalocele; Occipital Bone
PubMed: 37993698
DOI: 10.1007/s00381-023-06232-4