Tetraparesis following thoracic spine surgery in a patient with Klippel-Feil syndrome and ABCB4 mutation: a case report.

BACKGROUND: Klippel-Feil syndrome is a rare condition described in 1912 by Maurice Klippel and André Feil. It is defined as a congenital cervical fusion of at least two vertebrae, associated with a classical triad of clinical signs: short neck, low posterior hairline, and limited range of movement. However, Klippel-Feil syndrome manifests with a vast spectrum of phenotypes, ranging from no symptoms to complete triad, with or without other associated malformations. Most commonly, CCF results from sporadic mutations, even though autosomal recessive, autosomal dominant, or even X-linked inheritance can be detected. The ATP-binding cassette subfamily B member 4 is only expressed in the liver and is involved in biliary phospholipid secretion. The clinical spectrum includes various hepatobiliary pathologies, including low phospholipid-associated cholelithiasis, and has never been associated with musculoskeletal anomalies. CASE PRESENTATION: A 55-year-old male Caucasian patient presenting with low phospholipid-associated cholelithiasis syndrome with ATP-binding cassette subfamily B member 4 mutation and liver cirrhosis was referred to our clinic for a liver transplant. A period of 6 months before, the patient underwent a T7-T9 posterior fixation for a T8 osteoporotic fracture. Postoperatively, he was tetraparetic, whereas he was neurologically intact before the operation. At admission to our hospital, he was still tetraparetic and presented with clinical signs of cervical myelopathy. Moreover, he suffered a limitation of cervical range of motion in all directions, short neck, and low posterior hairline. Imaging showed multiple cervical and thoracic vertebral bodies fusion, as well as cervical spine stenosis. Based on the available data, we diagnosed a type 3 Klippel-Feil syndrome according to Samartzis' classification. CONCLUSIONS: The heterogeneity of KFS and the various potential hereditary links that are known indicate that it is important to highlight all potential cases related to known genetic defects. At present, no association between ATP-binding cassette subfamily B member 4 mutation and congenital cervical fusions has been reported. The other important clinical focus of this case is the appearance of spontaneous tetraparesis after thoracic spine surgery. This mechanism remains unclear, but considering different spinal anatomy it might have been due to difficult intubation and patient's positioning during his previous operation.

Combined sclerotherapy followed by surgical resection of a large extracranial venous malformation in a 14-month-old child: preoperative workup and technical note.

INTRODUCTION: Venous malformations affect around 2 per 10,000 newborn and are the most common type of congenital vascular malformation. They are always present at birth and are often misdiagnosed with hemangiomas. Accurate diagnosis and adequate targeted therapy through a multidisciplinary approach is advocated for a successful treatment, considering a combination of modalities in complex cases. We present here the workup and treatment of a venous malformation in a 14 month old child by combining a preoperative sclerotherapy with sodium tetradecyl sulfate (STS) followed by complete surgical excision respecting the calvarium. CASE PRESENTATION: A large right extracranial fronto-parietal venous malformation and scalloping of the underlying calvarium, attached to the pericranium, surgically excised after preoperative sclerotherapy with STS in a 14-month-old child. RESULTS: The patient had an uneventful postoperative course with complete resection of the lesion, satisfying cosmetic appearance and no complications. Histopathological examination confirmed a venous malformation. CONCLUSION: We demonstrated the workup and the rationale of the combined sclerotherapy followed by surgical resection of a large growing extracranial venous malformation. Preoperative direct contrast injection and sclerotherapy allowed to rule out significative extracranial to intracranial venous inflow and reduce blood loss for the surgical procedure, respectively. Complete removal of the malformation minimized the impact on future growth of the calvarium.

Supratentorial Pediatric Midline Tumors and Tumor-like Lesions: Clinical Spectrum, Natural History and Treatment Options.

Childhood Central Nervous System tumors account for 25% of all pediatric tumors. Large availability and broadening of indications to imaging has made incidental findings more common. Among these, midline lesions have different clinical relevance depending on their intrinsic pattern of behaviour and on their specific location. In this narrative review we describe the natural history and treatment options of midline lesions in children.

Natural history and treatment options of radiation-induced brain cavernomas: a systematic review.

Radiation-induced cavernous malformations (RICMs) are delayed complications of brain irradiation during childhood. Its natural history is largely unknown and its incidence may be underestimated as RCIMS tend to develop several years following radiation. No clear consensus exists regarding the long-term follow-up or treatment. A systematic review of Embase, Cochrane Library, PubMed, Google Scholar, and Web of Science databases, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, was performed. Based on our inclusion/exclusion criteria, 12 articles were included, totaling 113 children with RICMs, 86 were treated conservatively, and 27 with microsurgery. We were unable to precisely define the incidence and natural history from this data. The mean age at radiation treatment was 7.3 years, with a slight male predominance (54%) and an average dose of 50.0 Gy. The mean time to detection of RICM was 9.2 years after radiation. RICM often developed at distance from the primary lesion, more specifically frontal (35%) and temporal lobe (34%). On average, 2.6 RICMs were discovered per child. Sixty-seven percent were asymptomatic. Twenty-one percent presented signs of hemorrhage. Clinical outcome was favorable in all children except in 2. Follow-up data were lacking in most of the studies. RICM is most often asymptomatic but probably an underestimated complication of cerebral irradiation in the pediatric population. Based on the radiological development of RICMs, many authors suggest a follow-up of at least 15 years. Studies suggest observation for asymptomatic lesions, while surgery is reserved for symptomatic growth, hemorrhage, or focal neurological deficits.

Meningiomas and Cognitive Impairment after Treatment: A Systematic and Narrative Review.

Clinical outcomes after surgery for intracranial meningiomas might be overvalued as cognitive dimensions and quality of life are probably underreported. This review aims to summarize the current state of cognitive screening and treatment-related outcomes after meningioma surgery. We present a systematic review (Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA-P) 2015-based) of cognitive outcomes after intracranial meningioma surgery. A total of 1572 patients (range 9-261) with a mean age of 58.4 years (range 23-87), and predominantly female (n = 1084, 68.9%) were identified. Mean follow-up time after treatment was 0.86 ± 0.3 years. Neuropsychological assessment was very heterogeneous, but five dimensions of cognition were described: memory (19/22); attention (18/22); executive functions (17/22); language (11/22); flexibility (11/22 studies). Cognitive abilities were impaired in 18 studies (81.8%), but only 1 showed deterioration in all dimensions simultaneously. Memory was the most affected. with significant post-therapy impairment in 9 studies (40.9%). Postoperatively, only 4 studies (18.2%) showed improvement in at least one dimension. Meningioma patients had significantly lower cognitive scores when compared to healthy subjects. Surgery and radiotherapy for meningiomas were associated with cognitive impairment, probably followed by a partial recovery. Cognition is poorly defined, and the assessment tools employed lack standardization. Cognitive impairment is probably underreported in meningioma patients.

The role of EC-IC bypass in ICA blood blister aneurysms-a systematic review.

To perform a systematic review of extracranial-to-intracranial (EC-IC) bypass surgery with parent vessel trapping for blood blister-like aneurysms (BBAs) of the internal carotid artery (ICA) according to PRISMA guidelines. Search of PubMed using "bypass" [all fields] and "ICA" [all fields] or "internal carotid artery" [all fields] and ("blood blister-like aneurysm" [MeSH terms]. Thirty-four original articles were identified, of which 21 were excluded (treatment not including bypass or insufficient details on complications or clinical outcomes). Thirteen articles published between 2008 and 2019 were included, totaling 98 patients, with a median of 7.5 patients per article (range 1-17). Mean age was 53.3 years (range 23-80). The main techniques were external carotid artery to middle cerebral artery (ECA-MCA) in 81% and superficial temporal artery to MCA (STA-MCA) in 19%. The most common grafts were radial artery (74%) and STA (19%). The risk of intraoperative rupture varied from 0 to 75%, with a mean of 12%. With respect to clinical outcomes, the modified Rankin Scale (mRS) was not stated in 30% of the cases. When stated, mRS was ≤ 2 in 79%, mRS was 3-5 in 10%, and 4% had mRS 6 (death). We identified only 13 articles, with no prospective studies. Outcomes were better than generally reported for ruptured aneurysms, both with respect to poor outcome (mRS > 2) and in-hospital mortality, perhaps reflecting a selection bias. In general, the data reporting quality was low, precluding any firm conclusions, but EC-IC bypass with ICA trapping may be a valid treatment option for ruptured ICA BBAs.

Clip-wrapping of ruptured blood blister-like aneurysms of the internal carotid artery.

To evaluate the safety and validity of microsurgical Gore-Tex clip-wrapping for ruptured blood blister-like aneurysms (BBAs) of the internal carotid artery (ICA). Single-surgeon series. Retrospective study. Data analyzed were patient age, sex, Hunt and Hess grade (H&H), Fisher grade, time from rupture to hospitalization, aneurysm size and location, collateral capacity of the circle of Willis, time from hospitalization to aneurysm repair, aneurysm obliteration, complications, and modified Rankin scale (mRS) at follow-up. Six patients (2 males, 4 females) with ICA BBAs underwent clip-wrapping between 2011 and 2016. Median age was 50.0 years (range 31.7-54.0). H&H was grade 1 or 2 in 5 patients and grade 4 in 1 patient. All aneurysms were small (≤ 0.3 cm), without relation to vessel bifurcations, and located anteromedially, anterolaterally, and superomedially on the ICA trunk. Right side was most frequent (66%). All aneurysms could be clip-wrapped without intraoperative ruptures and all parent arteries could be preserved in the acute phase. Clip-wrapping completely eliminated the BBAs in five patients, whereas one patient underwent additional stent-assisted coiling. There were no re-ruptures, delayed infarctions, or deaths postoperatively. After a median follow-up of 57 months (range 20-90), outcome was favorable (mRS score 0-2) in all patients without radiographic signs of recurrences. Using the Gore-Tex clip-wrapping technique for ruptured ICA BBAs, the aneurysm could be treated without intraoperative ruptures or parent artery sacrifice in the acute phase. The outcomes were similar to other SAH patients and on follow-up, there were no aneurysm recurrences, indicating a durable long-term outcome.

What is the best therapeutic approach to a pediatric patient with a deep-seated brain AVM?

Although brain arteriovenous malformations (bAVMs) account for a very small proportion of cerebral pathologies in the pediatric population, they are the cause of roughly 50% of spontaneous intracranial hemorrhages. Pediatric bAVMs tend to rupture more frequently and seem to have higher recurrence rates than bAVMs in adults. Thus, the management of pediatric bAVMs is particularly challenging. In general, the treatment options are conservative treatment, microsurgery, endovascular therapy (EVT), gamma knife radiosurgery (GKRS), proton-beam stereotactic radiosurgery (PSRS), or a combination of the above. In order to identify the best approach to deep-seated pediatric bAVMs, we performed a systematic review, according to the PRISMA guidelines. None of the options seem to offer a clear advantage over the others when used alone. Microsurgery provides the highest obliteration rate, but has higher incidence of neurological complications. EVT may play a role when used as adjuvant therapy, but as a stand-alone therapy, the efficacy is low and the long-term side effects of radiation from the multiple sessions required in deep-seated pediatric bAVMs are still unknown. GKRS has a low risk of complication, but the obliteration rates still leave much to be desired. Finally, PSRS offers promising results with a more accurate radiation that avoids the surrounding tissue, but data is limited due to its recent introduction. Overall, a multi-modal approach, or even an active surveillance, might be the most suitable when facing deep-seated bAVM, considering the difficulty of their management and the high risk of complications in the pediatric population.