Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach.

BACKGROUND: Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a genetically heterogeneous ciliopathy, characterized by dysmorphic features including dolichocephaly (with inconstant sagittal craniosynostosis), chronic kidney disease (CKD), hepatic fibrosis, retinitis pigmentosa, and brain abnormalities, with a partial clinical overlap with other ciliopathies. PATIENTS AND METHODS: A retrospective review of four children with Sensenbrenner syndrome treated at the Femme Mère Enfant University Hospital of Lyon from 2005 to 2020 was conducted. RESULTS: Variants in WDR35 or WDR19 were found in all children. Two of them underwent surgery for a scaphocephaly in the first months of life. All patients developed CKD leading to end-stage renal disease during the first/second decades. DISCUSSION: The diagnosis of scaphocephaly may precede the diagnosis of the underlying Sensenbrenner syndrome, thus highlighting the importance of a systematic multidisciplinary assessment and follow-up for craniosynostoses, in order to identify syndromic forms requiring specific management. In Sensenbrenner syndrome, patients' management should be coordinated by multidisciplinary teams of reference centers for rare diseases, with expertise in the management of craniofacial malformations as well as rare skeletal and renal disorders. Indeed, a prompt etiological diagnosis will result in an early diagnosis of multisystemic complications, notably renal involvement, thus improving global prognosis.

First impressions about Adherus, a new dural sealant.

PURPOSE: The aim of the study is to report our first impressions about Adherus, a novel dural sealant, used in neurosurgical endoscopic transnasal procedures. METHODS: We retrospectively reviewed the clinical and surgical records of the first 11 patients with intraoperative high-flow cerebrospinal fluid leak treated with the aid of Adherus at our center between February and October 2014. The healing at the level of the dural plasty was monitored and evaluated radiologically and with regular endoscopic inspections. RESULTS: With a median follow-up of 210 days, no postoperative CSF leak or surgical site infections were found in any of the cases. CONCLUSIONS: Based on our preliminary experience, this new dural sealant seems to provide an effective aid in dural plasty during endoscopic transphenoidal procedures.

Haemorrhagic presentation of a craniopharyngioma in a pregnant woman.

Objective. Craniopharyngioma is a rare tumour, and, consequently, acute clinical presentation and diagnosis, during pregnancy, of this pathology are quite difficult to find. Only few cases are reported in the literature, and no one describes these two conditions in association. Methods. We report a particular case of craniopharyngioma presenting both of the above conditions. Results. The patient was successfully operated with endoscopic technique. Conclusions. Rare and difficult cases, created by the superposition of different clinical conditions, need multidisciplinary management, with collaboration, integration, and cooperation between different medical specialists.

Treatment of high-grade spondylolisthesis with Schanz recoil screws: our experience.

PURPOSE: Spondylolisthesis surgical treatment is often difficult with higher degree of slip and related techniques still debated. We have taken into consideration double thread recoil Schanz screws. This system should allow the best reduction of the slip, treating only the affected vertebrae. METHODS: We retrospectively analyzed 46 patients affected by grade II or higher spondylolisthesis, treated with circumferential arthrodesis using Schanz screws. Duration of surgery, complications, reduction, and rate of fusion have been recorded. RESULTS: We found that duration of surgery and complications were similar or slightly lower if compared to our standard Posterior Lumbar Interbody Fusion procedures. However, radiological results and clinical outcome appear better in cases treated with Schanz screws. CONCLUSIONS: Fixation system with Schanz screws seems to be effective in reducing the slip, treating only the affected level, in high grade of spondylolisthesis.

Endoscopic endonasal transsphenoidal surgery for sellar tumors in children.

OBJECTIVE: Endoscopic endonasal transsphenoidal surgery (EETS) is still rarely used in pediatric subjects compared with adults. Reports on EETS in children appeared only recently in the literature, usually regarding small series. The aim of the study is to assess the actual role and the limits of EETS in children with sellar tumors by reporting a two-centers experience. METHODS: Twenty-seven children (mean age: 12.2 years) were operated on during the last decade. Seventeen patients harbored a sellar mass, 7 a suprasellar tumor, and 3 a clival mass. Laboratory investigations revealed hypopituitarism in 6 children and hormone hypersecretion in 9. All the operations were carried out by a team including both ENT surgeon and neurosurgeon using a dedicated 18-cm long rigid endoscope (2.7 mm and 4 mm diameter) through the direct paraseptal or the transethmoidal or the transpterygoid route. RESULTS: Overall, 29 operations were performed. Gross total tumor resection was obtained in 22 children (81.5%) while a subtotal and a partial removal in 2 (7.5%) and 3 cases (11%), respectively. Pituitary adenoma was the most common histotype (12 cases), followed by craniopharyngioma (5) and Rathke's cleft cyst (4). No surgical mortality or neurological morbidity or late nasal complications were observed. Postoperative CSF fistula occurred in 3 patients. All children are alive at current follow-up (average: 8.6 years). Preoperative hypopituitarism disappeared or improved in 4 cases and was stable in the remaining 2 (no new hormone deficits appeared). CONCLUSION: EETS is a safe and effective surgical option also in children. As for adults, it allows to manage most of the tumor lesions of the sellar region with stable long-term results.