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Surgical Neurology International 2022The authors describe clinical and imaging findings, surgical technique, and outcomes in myelocystocele.
BACKGROUND
The authors describe clinical and imaging findings, surgical technique, and outcomes in myelocystocele.
METHODS
We describe a surgical procedure performed in six patients, four males and two females, with myelocystocele treated at our hospital. We review the images obtained at the time of diagnosis and after surgery. The patients' age range was 12-56 months and had undergone surgery for terminal myelocystocele between 2015 and 2020. All patients had a large lumbar mass covered with healthy skin and presented spontaneous movements at birth. Two patients presented VACTERL syndrome.
RESULTS
A watertight closure of the soft tissues was performed in all cases. None of the patients presented postsurgical complications, such as cerebrospinal fluid leak or infection. All the patients had undergone excision of the meningocele sacs, the tethering bands were lysed, and the filum was detethered. The mean follow-up period was 34 (12-56) months. A motor deficit was seen in 2 patients (33.3%).
CONCLUSION
Prenatal diagnosis and early corrective surgical intervention are recommended to prevent deterioration in neurological function. VACTERL association is a common condition and should be investigated.
PubMed: 35855164
DOI: 10.25259/SNI_299_2022 -
Ear, Nose, & Throat Journal Jul 2022Cerebrospinal fluid (CSF) leakage from the lateral recess of the sphenoid sinus (LRSS) is usually repaired using endoscopic endonasal approaches, which can be...
BACKGROUND
Cerebrospinal fluid (CSF) leakage from the lateral recess of the sphenoid sinus (LRSS) is usually repaired using endoscopic endonasal approaches, which can be challenging. Various surgical techniques have been developed for the disease.
OBJECTIVE
To report our experience with repairing CSF leak from the LRSS via transethmoid sphenoidotomy approach (TESA) and transprelacrimal recess pterygoid root approach (TPLRA), to assess the efficiency of TPLRA by comparing it with TESA.
METHODS
This retrospective study included patients with LRSS CSF rhinorrhea who underwent TESA (n = 10) or TPLRA (n = 5) from January 2011 to December 2020. Demographic characteristics and operation-related parameters were recorded.
RESULTS
The mean operation time was 169.5 and 225.0 mins in the TESA and TPLRA groups, respectively, with a mean blood loss of 65 mL and 68 mL, respectively. Histopathological examinations confirmed encephalocele in 11 (73.33%) and 4 (26.67%) cases with meningocele, respectively. CSF rhinorrhea was successfully repaired in the first attempt in both groups during the mean follow-up time of 54 months. Postoperative permanent numbness of the cheek was observed in two patients in the TESA group. No cases of lacrimal overflow or subjective dry eye were observed.
CONCLUSIONS
The TPLRA, which could be an alternative procedure to treat CSF rhinorrhea in the LRSS, provides a straight-line trajectory and effective maneuverability. We also found that CSF rhinorrhea in the LRSS was accompanied by encephalocele or meningocele, with encephalocele presenting more commonly.
PubMed: 35796349
DOI: 10.1177/01455613221112760 -
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 -
The Journal of Pediatrics Oct 2022To assess whether the severity of cases of spina bifida changed after the institution of mandatory folic acid fortification in the US.
OBJECTIVE
To assess whether the severity of cases of spina bifida changed after the institution of mandatory folic acid fortification in the US.
STUDY DESIGN
Six active population-based birth defects programs provided data on cases of spina bifida for 1992-1996 (prefortification period) and 1999-2016 (postfortification period). The programs contributed varying years of data. Case information included both a medical record verbatim text description of the spina bifida diagnosis and spina bifida codes (International Classification of Diseases, Clinical Modification, or a modified birth defects surveillance coding system). Comparing the prefortification and postfortification periods, aORs for case severity (upper-level lesions [cervical, thoracic] vs lower-level lesions [lumbar, sacral]) and prevalence ratios (PRs) were estimated.
RESULTS
A total of 2593 cases of spina bifida (out of 7 816 062 live births) met the inclusion criteria, including 573 cases from the prefortification period and 2020 cases from the postfortification period. Case severity decreased by 70% (aOR, 0.30; 95% CI, 0.26-0.35) between the fortification periods. The decrease was most pronounced for non-Hispanic White mothers. Overall spina bifida prevalence declined by 23% (PR, 0.77; 95% CI, 0.71-0.85), with similar reductions seen across the early, mid, and recent postfortification periods. A statistically significant decrease in upper-level lesions occurred in the postfortification period compared with the prefortification period (PR, 0.28; 95% CI, 0.22-0.34), whereas the prevalence of lower-level lesions remained relatively similar (PR, 0.94; 95% CI, 0.84-1.05).
CONCLUSIONS
The severity of spina bifida cases decreased after mandatory folic acid fortification in the US. Further examination is warranted to better understand the potential effect of folic acid on spina bifida severity.
Topics: Female; Folic Acid; Food, Fortified; Humans; Live Birth; Pregnancy; Prevalence; Spinal Dysraphism
PubMed: 35772508
DOI: 10.1016/j.jpeds.2022.06.023 -
Bone Sep 2022Lateral Meningocele or Lehman Syndrome (LMS) is associated with NOTCH3 mutations causing deletions of the PEST domain and a gain-of-NOTCH3 function. We demonstrated that...
Lateral Meningocele or Lehman Syndrome (LMS) is associated with NOTCH3 mutations causing deletions of the PEST domain and a gain-of-NOTCH3 function. We demonstrated that Notch3 mice harboring Notch3 mutations analogous to those found in LMS are osteopenic because of enhanced bone resorption. To determine the contribution of specific cell lineages to the phenotype, we created a conditional-by-inversion (Notch3) model termed Notch3 in which Cre recombination generates a Notch3 allele expressing a NOTCH3 mutant lacking the PEST domain. Germ line Notch3 inversion caused osteopenia and phenocopied the Notch3 mutant, validating the model. To induce the mutation in osteocytes, smooth muscle and endothelial cells, Notch3 mice were bred with mice expressing Cre from the Dmp1, Sm22a and Cdh5 promoters, respectively, creating experimental mice harboring Notch3 alleles in Cre-expressing cells and control littermates harboring Notch3 alleles. Notch3 inversion in osteocytes led to femoral and vertebral cancellous bone osteopenia, whereas Notch3 inversion in mural Sm22a or endothelial Cdh5-expressing cells did not result in a skeletal phenotype. In conclusion, introduction of the LMS mutation in osteocytes but not in vascular cells causes osteopenia and phenocopies Notch3 global mutant mice.
Topics: Abnormalities, Multiple; Animals; Bone Diseases, Metabolic; Endothelial Cells; Male; Meningocele; Mice; Mice, Inbred C57BL; Mutation; Osteocytes; Receptors, Notch
PubMed: 35760307
DOI: 10.1016/j.bone.2022.116476 -
Radiology Case Reports Sep 2022Currarino syndrome is an autosomal dominant hereditary disease defined as a triad of anorectal abnormality, sacral dysgenesis, and a presacral mass, primarily an...
Currarino syndrome is an autosomal dominant hereditary disease defined as a triad of anorectal abnormality, sacral dysgenesis, and a presacral mass, primarily an anterior sacral meningocele. It is often seen in children and considered rare in adults. It is mostly found as an incidental finding. We present a 21-year-old man who presented with acute flank pain. He had a history of Hirschsprung's disease and therefore had undergone surgery in his infancy. He also had a history of prolonged constipation and had an episode of admission due to suspected obstruction. On physical examination, he had a severe costovertebral angle tenderness. urine exam revealed microscopic hematuria. Laboratory tests were otherwise unremarkable. Computed tomography scan revealed renal stones as well as a horseshoe kidney. Incidental findings included a large simple cystic structure in the presacral area suggestive of an anterior meningocele and sacral dysgenesis associated with scimitar sacral appearance. These findings suggested a diagnosis of Currarino syndrome. Urinary complications of this disease are reported in few articles. An important takeaway note for physicians is to have a high level of suspicion when encountering patients with gastrointestinal, neurologic, or urologic signs and symptoms and consider a thorough history taking and physical examination alongside proper imaging evaluation.
PubMed: 35755101
DOI: 10.1016/j.radcr.2022.05.039 -
JFMS Open Reports 2022A 6-week-old entire female domestic shorthair cat was presented for evaluation of a soft bulge and a palpable skull defect on the forehead, present since adoption a few...
CASE SUMMARY
A 6-week-old entire female domestic shorthair cat was presented for evaluation of a soft bulge and a palpable skull defect on the forehead, present since adoption a few days earlier. The neurological examination revealed an absent menace response bilaterally and apparent blindness, localising the lesion to the occipital cortex. The main differential diagnoses were meningocoele (MC) and meningoencephalocoele (MEC). Surgical repair was proposed once the cat reached adult size. Meanwhile, the cat developed seizures and was treated with anticonvulsant therapy. At 6 months of age, CT confirmed a frontoparietal MEC with associated porencephaly. Based on a three-dimensional printed skull mould, a polysulfone implant was created. The meninges were dissected from the skin, a durectomy was performed and samples of the protruding brain were obtained. Part of the cerebrospinal fluid was drained until the size of the protruding brain decreased enough to be included below the implant that was anchored on top of the skull with cerclages. Histopathology confirmed the diagnosis of MEC. Three years and 7 months later, the cat had partially recovered vision but continued to seize monthly despite antiepileptic drugs.
RELEVANCE AND NOVEL INFORMATION
MC/MEC is a relatively uncommon disease reported in companion animals, and only four cases of surgical management have been described, and did not use a polysulfone tailor-made implant. In human medicine, surgical intervention is the treatment of choice. This case highlights a new implant option for surgical correction of MEC with good long-term result and no complications after 3 years and 7 months.
PubMed: 35693478
DOI: 10.1177/20551169221098940 -
PloS One 2022Notch receptors are determinants of cell fate and function, and play an important role in the regulation of bone development and skeletal remodeling. Lateral Meningocele...
Notch receptors are determinants of cell fate and function, and play an important role in the regulation of bone development and skeletal remodeling. Lateral Meningocele Syndrome (LMS) is a monogenic disorder associated with NOTCH3 pathogenic variants that result in the stabilization of NOTCH3 and a gain-of-function. LMS presents with neurological developmental abnormalities and bone loss. We created a mouse model (Notch3em1Ecan) harboring a 6691TAATGA mutation in the Notch3 locus, and heterozygous Notch3em1Ecan mice exhibit cancellous and cortical bone osteopenia. In the present work, we explored whether Notch3 antisense oligonucleotides (ASO) downregulate Notch3 and have the potential to ameliorate the osteopenia of Notch3em1Ecan mice. Notch3 ASOs decreased the expression of Notch3 wild type and Notch36691-TAATGA mutant mRNA expressed by Notch3em1Ecan mice in osteoblast cultures without evidence of cellular toxicity. The effect was specific since ASOs did not downregulate Notch1, Notch2 or Notch4. The expression of Notch3 wild type and Notch36691-TAATGA mutant transcripts also was decreased in bone marrow stromal cells and osteocytes following exposure to Notch3 ASOs. In vivo, the subcutaneous administration of Notch3 ASOs at 25 to 50 mg/Kg decreased Notch3 mRNA in the liver, heart and bone. Microcomputed tomography demonstrated that the administration of Notch3 ASOs ameliorates the cortical osteopenia of Notch3em1Ecan mice, and ASOs decreased femoral cortical porosity and increased cortical thickness and bone volume. However, the administration of Notch3 ASOs did not ameliorate the cancellous bone osteopenia of Notchem1Ecan mice. In conclusion, Notch3 ASOs downregulate Notch3 expression in skeletal cells and their systemic administration ameliorates cortical osteopenia in Notch3em1Ecan mice; as such ASOs may become useful strategies in the management of skeletal diseases affected by Notch gain-of-function.
Topics: Abnormalities, Multiple; Animals; Bone Diseases, Metabolic; Bone and Bones; Meningocele; Mice; Oligonucleotides, Antisense; RNA, Messenger; Receptor, Notch2; Receptor, Notch3; Receptors, Notch; X-Ray Microtomography
PubMed: 35536858
DOI: 10.1371/journal.pone.0268225 -
European Annals of Otorhinolaryngology,... Nov 2022
Topics: Child; Humans; Ear Canal; Ear, Inner; Meningocele; Tomography, X-Ray Computed
PubMed: 35534360
DOI: 10.1016/j.anorl.2022.03.006 -
The Pan African Medical Journal 2022
Topics: Anal Canal; Digestive System Abnormalities; Humans; Magnetic Resonance Imaging; Meningocele; Rectum; Sacrum; Syringomyelia
PubMed: 35519164
DOI: 10.11604/pamj.2022.41.143.33419