Cavernous hemangioma: a term to be canceled

Many Authors still refer to “cavernous hemangioma”. To be correct, the term should indicate a tumor. Are cavernous hemangioma tumors? No. In a recent research Rootman et al. have demonstrated that CHs are non-infiltrating, focal venous malformations. They lack hyperplasia, that is, the cell turnover rate is not altered and they grow (when they do it, by an average 10 % per year) owing to phenomena of localized intravascular coagulation (LIC) and subsequent inflammation. Just like other Puig Type I venous malformations, they are (almost) excluded from the general circulation. Since isolated venous malformations of the orbit are not tumors, indications for surgery and, especially, the related informed consent must take this into consideration. Only those malformations presenting clear symptoms, like reduction in visual acuity and/or diplopia should be managed surgically. Another, less agreed on, indication is morphologically significant exophthalmos. Small, asymptomatic malformations, especially those located intraconally, can be just observed over time. Nonsurgical measures such as low molecular weight heparin could be used to stem episodes of LIC. Thus we believe that the term “cavernous hemangioma” should be canceled and replaced by Venous Malformation of the Orbit

Resorbable Mesh Cranioplasty Repair of Bilateral Cerebrospinal Fluid Leaks Following Pediatric Simultaneous Bilateral Auditory Brainstem Implant Surgery

OBJECTIVE: To present a child with cochlear nerve deficiency (CND) who received simultaneous bilateral simultaneous auditory brainstem implants (BS-ABI) and subsequently presented with bilateral cerebrospinal fluid (CSF) leaks unresponsive to standard treatments. To propose a novel rigid retrosigmoid cranioplasty for treating and preventing CSF leaks in children at high risk for this complication. PATIENT: A 3.5-year-old child with CND, vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities, coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality, Arnold Chiari malformation, previous treated tracheo-esophageal fistula underwent BS-ABI. Postoperatively, the child had recurrent bilateral retroauricular fluid collections. A standard revision procedure revealed breaches in the dural closure, migration of the auditory brainstem implantation (ABI) receiver stimulator on both sides and was unsuccessful in stopping the leak. INTERVENTIONS: Bilateral repair with free fat grafting filling the craniectomy space and two absorbable meshes of poly-L-D-lactic (PLDL) acid stabilized with PLDL pins on the surrounding cranium, one to stabilize the fat graft and one to fix the ABI receiver stimulators inside the subperiosteal pockets. MAIN OUTCOME MEASURE: CSF leak recurrence, postoperative computed tomographic (CT) scans, intra- and postoperative simultaneous electrically evoked auditory brainstem responses (EABRs). Subjective and objective assessment of ABI function. RESULTS: No postoperative CSF leaks at 60 days follow-up. EABRs and consistent behavioral responses obtained at initial mapping on both sides. CONCLUSIONS: The use of BS-ABI likely contributed to bilateral CSF leaks requiring revision surgeries in this child. Simultaneous bilateral craniotomies can put patients at risk for CSF leak. A novel cranioplasty technique employed finally proved successful in stopping the CSF leak in this case

A retrospective evaluation to assess reliability of electrophysiological methods for diagnosis of hearing loss in infants

Background: An electrophysiological investigation with auditory brainstem response (ABR), round window electrocochleography (RW-ECoG), and electrical-ABR (E-ABR) was performed in children with suspected hearing loss with the purpose of early diagnosis and treatment. The effectiveness of the electrophysiological measures as diagnostic tools was assessed in this study. Methods: In this retrospective case series with chart review, 790 children below 3 years of age with suspected profound hearing loss were tested with impedance audiometry and underwent electrophysiological investigation (ABR, RW-ECoG, and E-ABR). All implanted cases underwent pure-tone audiometry (PTA) of the non-implanted ear at least 5 years after surgery for a long-term assessment of the reliability of the protocol. Results: Two hundred and fourteen children showed bilateral severe-to-profound hearing loss. In 56 children with either ABR thresholds between 70 and 90 dB nHL or no response, RW-ECoG showed thresholds below 70 dB nHL. In the 21 infants with bilateral profound sensorineural hearing loss receiving a unilateral cochlear implant, no statistically significant differences were found in auditory thresholds in the non-implanted ear between electrophysiological measures and PTA at the last follow-up (p > 0.05). Eight implanted children showed residual hearing below 2000 Hz worse than 100 dB nHL and 2 children showed pantonal residual hearing worse than 100 dB nHL (p > 0.05). Conclusion: The audiological evaluation of infants with a comprehensive protocol is highly reliable. RW-ECoG provided a better definition of hearing thresholds, while E-ABR added useful information in cases of auditory nerve deficiency. © 2022 by the authors

Complications After Treatment of Head and Neck Venous Malformations With Sodium Tetradecyl Sulfate Foam

The aim of this study was to evaluate complications in patients with head and neck venous malformations (VMs) treated with foam sclerotherapy using sodium tetradecyl sulfate (STS)

Percutaneous sclerotherapy with gelified ethanol of low-flow vascular malformations of the head and neck region: preliminary results

PURPOSEWe aimed to evaluate the safety and effectiveness of percutaneous sclerotherapy using gelified ethanol in patients with low-flow malformations (LFMs).METHODSA retrospective study was performed, analyzing treatment and outcome data of 6 patients that presented with 7 LFMs (3 lymphatic and 3 venous). Median diameter of LFMs was 6 cm (interquartile range [IQR], 4.5–8.5 cm). Data regarding pain, functional and/or cosmetic issues were assessed. Diagnosis was performed clinically and confirmed by Doppler ultrasound, while extension of disease was assessed by magnetic resonance imaging (MRI). Percutaneous puncture was performed with 23G needle directly or with ultrasound guidance. All the LFMs were treated with gelified ethanol injection. The median volume injected per treatment session was 4.4 mL.RESULTSTechnical and clinical success were obtained in all cases. No recurrences were recorded during a median follow up of 17 months (IQR, 12–19 months). Among the 6 patients, 5 had complete relief (83%) and one showed improvement of symptoms. The median VAS score was 7 (IQR, 6–7.5) before and 0 (IQR, 0–0) after treatment. All patients had functional and esthetic improvement (100%). Four patients (66.7%) revealed very good acceptance and two patients (33.3%) good acceptance. No major complications or systemic side effects were observed.CONCLUSIONGelified ethanol percutaneous sclerotherapy was easy to handle, well-tolerated, safe and effective in the short-term follow-up. Longer follow-up of efficacy is mandatory for further conclusions

Intraoperative imaging O-Arm™ in secondary surgical correction of post-traumatic orbital fractures

Abstract Purpose To determine the safety and efficacy of O-Arm™ intraoperative imaging in maxillofacial surgery of post-traumatic orbital fractures. In order to ensure correct placement of titanium plate, immediately after fixing, viewable, in the axial, sagittal and coronal images. Methods The authors evaluated 5 consecutive adult patients with orbital fractures who required a reoperation involving displacement of titanium mesh between January and December 2015. The displacement or incorrect positioning of titanium mesh was detected at post-operative CT scan or clinical neurological findings. Intraoperative O-Arm™ imaging was used for our patients who underwent secondary maxillofacial orbital fracture surgery due to the failure of first surgical approach. Results An eyelid incision was performed in order to obtain maximal exposure and minimizing cosmetic defects. Any previous fixation device was skeletonized and removed, any improperly reduced fracture was mobilized, reduced and refixated with 1.5 mm plates, screws and titanium mesh. The intra-operative O-Arm™ imaging technique was used at the end of the procedures. In 4 cases it confirmed the appropriateness of the newly obtained reconstruction, in 1 case a first scan showed a suboptimal result and the devices were correctly repositioned, guided by the O-Arm™ images. Conclusions Intraoperative O-Arm™ assisted craniofacial reconstruction surgery improves the assessment of neurovascular structure decompression, skeletal fragment identification, fixation procedures and for the correct re-establishment of facial symmetry in orbital floor fractures

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe