Endovascular treatment of wide-necked intracranial aneurysms using the Nautilus Intrasaccular System: initial case series of 41 patients at a single center.

BACKGROUND: Endovascular treatment of intracranial wide-necked and bifurcation aneurysms (WNBA) is technically challenging. The Nautilus Intrasaccular System is designed to provide a mechanical barrier at the aneurysm neck to support coil embolization. We report the results of a single-center series of patients treated for intracranial aneurysms with the Nautilus. METHODS: Clinical and radiological data were retrospectively collected for all patients treated with the Nautilus for an unruptured or ruptured intracranial aneurysm at our center between March 2021 and March 2022. Clinical outcomes (modified Rankin Scale (mRS) scores), Raymond-Roy angiographic occlusion, recanalization, and complications were measured immediately post-procedure and at 3-6-month follow-up. RESULTS: A total of 41 patients of mean age 56.7 years (range 37-83 years) were treated with the Nautilus, with 41 saccular aneurysms (18 (43.9%) unruptured and 23 (56.1%) ruptured). The majority of aneurysms (39/41 (95.1%)) were located in the anterior circulation. We experienced no technical complications. One patient had an asymptomatic post-procedural minor stroke related to the procedure. Immediate Class I occlusion was achieved in 30 (73.1%) patients. The rate of all-cause mortality was 7.3% (3/41). One patient was lost to follow-up. At follow-up, 94.5% (35/37) of patients achieved Class I occlusion and 94.5% (35/37) had an mRS score of 0. There were no procedural-related deaths or permanent morbidities at discharge or follow-up. CONCLUSION: This study demonstrates good safety and effectiveness using the Nautilus Intrasaccular System to treat both ruptured and unruptured intracranial aneurysms. Larger studies are needed to confirm these findings.

Progressive volume reduction and long-term aneurysmal collapse following flow diversion treatment of giant and symptomatic cerebral aneurysms.

Background: The primary goal of conventional endovascular and microvascular approaches is the clinical and radiological resolution of the symptomatic aneurysm-induced mass effect. This study assessed the volume changes and mass effect reduction due to sac shrinkage after treatment with flow diverter stents (FD) for unruptured cerebral aneurysms. Methods: We analyzed retrospectively 36 symptomatic aneurysms that were larger or equal to 25 mm in diameter in patients treated at our center from January 2016 to April 2022. Radiological and clinical outcomes were analyzed, including aneurysmal volume changes and resolution of aneurysm-related symptoms. Results: At 6 months, 25 aneurysms decreased in size, 2 remained unchanged, and 9 aneurysms demonstrated a post-treatment dimensional increase. At 12 months, 30 aneurysms showed a progressive radiological volume reduction. Either no change or negligible shrinkage was observed in the remaining six aneurysms. At 24 months, 32 aneurysms showed aneurysmal shrinkage by a mean 47% volume loss with respect to baseline. At the last follow-up, all 13 patients who had presented with third cranial nerve palsy showed improvements. Complete reversal of the pretreatment edematous changes was confirmed in all cases. The overall post-treatment complication rate was 8.3%, as 3 patients experienced non-fatal delayed rupture of their aneurysm. There was no mortality in this study. Conclusion: Flow diversion could effectively induce progressive aneurysmal shrinkage and resolution of the mass effect associated with giant symptomatic cerebral aneurysms.

Flow Diversion for the Management of Ruptured Intracranial Arterial Infudibular Dilatation: Proof of Principle and Therapeutic Protocol.

Thought to be benign anatomical variants, cerebral infundibular dilatations (ID) are most commonly encountered at the junction of the internal carotid artery (ICA) and the posterior communicating artery (PcomA). The true nature of this entity remains controversial, as some literature reports suggest they should be considered preaneurysmal lesions and a potential source of devastating subarachnoid hemorrhage. This report describes cases of presumably ruptured IDs and their therapeutic endovascular management. We retrospectively reviewed and analyzed patients with isolated subarachnoid hemorrhage (SAH) where the only potential cause was ruptured cerebral IDs, treated or not, between January 2012 and June 2021. Morphological and radiological features, treatment and procedural considerations, clinical and angiographic outcomes were also reviewed. Natural history of the ID is poorly understood, and its relation to SAH remains controversial. Ruptured cerebral IDs can be the suspected cause of bleeding if no other vascular lesion is present during multimodal examinations. Endovascular flow diversion stenting is safe and effective for the proper treatment of ruptured IDs. Pending further validations with longitudinal data are needed to legitimate the natural course of these mysterious lesions.

Intraductal Papillary Mucinous Neoplasm of the Pancreas: Need for a Tailored Approach to a Rare Entity.

Intraductal papillary mucinous neoplasm (IPMN) of the pancreas is a relatively new entity that has gained increased attention because of its unique features - presence of different subtypes with different malignant potential, biological behavior, and prognosis, higher rates of recurrences and concomitant or metachronous pancreatic duct cancer. It is rare with an incidence of 4 to 5 cases per 100 000. The relative lack of experience significantly hampers decision making for surgery (pancreatic head resection, distal pancreatectomy or enucleation) or follow-up.Herein we present two cases managed by diametrically different tactic according to the risk stratification - distal pancreatectomy with splenectomy and observation, respectively. An up-to-date literature review on the key points in diagnostics, indications for surgery, the extent of surgery, follow-up, and prognosis is provided.The tailored approach based on risk stratification is the cornerstone of management. Absolute indications for surgery are the lesions with high-risk stigmata, whereas the worrisome features should be evaluated by endoscopic ultrasound and fine-needle aspiration. Main duct and mixed type are usually referred to surgery, whereas the management of a branch type is more conservative due to the lower rate of invasive cancer. Strict postoperative follow-up is mandatory even in negative resection margins due to a high risk for recurrences and metachronous lesions.Despite the guidelines, the intraductal papillary mucinous neoplasm remains a major challenge for clinicians and surgeons in the balance the risk/benefit of observation versus resection. Risk stratification plays a key role in decision-making. Future trials need to determine the optimal period of surveillance and the most reliable predictive factors for concomitant pancreatic duct cancer.

Comaneci-Assisted Coiling as a Treatment Option for Acutely Ruptured Wide Neck Cerebral Aneurysm: Case Series of 118 Patients.

BACKGROUND: Wide-necked cerebral aneurysms in the setting of acute subarachnoid hemorrhage (SAH) remain difficult to treat with endovascular methods despite recent progress in the neuroendovascular field. OBJECTIVE: To evaluate the effectiveness and safety of the Comaneci device (Rapid Medical, Israel) in endovascular coil embolization of acutely ruptured, wide-necked sidewall, or bifurcation cerebral aneurysms. METHODS: We retrospectively reviewed 45 anterior communicating artery, 24 internal carotid artery, 21 middle cerebral artery bifurcation, 15 anterior cerebral artery, and 13 posterior circulation aneurysms, which were treated using Comaneci-assisted coil embolization from August 2017 to January 2019. We evaluated procedural complications, clinical outcomes, and mid-term angiographic follow-up. Immediate and 90 d-clinical outcome and radiological follow-up were obtained in all patients. RESULTS: Comaneci-assisted coil embolization was performed in 118 acutely ruptured aneurysms. The technique was carried out successfully in all cases. Simultaneous application of 2 separated Comaneci devices was performed in 8/118 cases (6.77%). Periprocedural thromboembolic complications related to the device were seen in 7/118 cases (5.93%) and severe vasospasm of the parent artery after manipulation of the Comaneci device occurred in 5/118 cases (4.2%). The procedural-related morbidity rate was 2.54%, and there was no procedural related mortality. Among the available survivors, angiographic follow-ups were obtained at 3 and 6 mo, and complete aneurysmal obliteration was confirmed in 81/112 (72.3%) and 75/112 (66.9%) cases, respectively. Mid-term follow-up reviewed total recanalization rate of 14.28%. CONCLUSION: Comaneci-assisted embolization of wide-necked intracranial aneurysms in patients presenting with acute SAH is associated with high procedural safety and adequate occlusion rates. Furthermore, dual antiplatelet therapy can be safely avoided in this patient group.

Initial experience with the new ethylene vinyl alcohol copolymer based liquid embolic agent Menox in the endovascular treatment of cerebral arteriovenous malformations.

BACKGROUND AND PURPOSE: Liquid embolic agents (LEAs) are the determinant tool for successful embolization of cranial arteriovenous shunts. There are few currently available LEAs. The aim of the study was to summarize our initial experience with a recently introduced non-adhesive ethylene vinyl alcohol (EVOH) copolymer based LEA (Menox 18) in the endovascular treatment of cerebral arteriovenous malformations. METHODS: From April 2018 to November 2018, 24 patients harboring cerebral arteriovenous malformations underwent endovascular embolization with Menox 18. Clinical features, angiographic results, procedural details, complications, and follow-up details were prospectively collected and retrospectively analyzed. RESULTS: Curative embolization in one endovascular session was achieved in 14/24 (58.3%) of the treated patients. Partial embolization was achieved in 10 patients (42.6%) in whom staged treatment with radiosurgery or microsurgical resection was planned. No mortality was recorded in our series. Clinical complications after embolization occurred in 1/24 (4.66%) patients. No technical complications were noted CONCLUSIONS: Our pilot study suggests that the Menox embolization system offers similar technical and clinical results in comparison with the other currently available LEAs. Further studies with larger cohorts and long term follow-up data are needed to fully evaluate its efficacy.

Three-dimensional neuronavigation in SEEG-guided epilepsy surgery.

OBJECTIVES: Epilepsy surgery is mainly cortical surgery and the precise definition of the epileptogenic zone on the complex cortical surface is of paramount importance. Stereoelectroencephalography (SEEG) may delineate the epileptogenic zone even in cases of non-lesional epilepsy. The aim of our study was to present a technique of 3D neuronavigation based on the brain surface and SEEG electrodes reconstructions using FSL and 3DSlicer software. PATIENTS AND METHODS: Our study included 26 consecutive patients operated on for drug-resistant epilepsy after SEEG exploration between January 2015 and December 2017. All patients underwent 1.5 T pre-SEEG MRI, post-SEEG CT, DICOM data post-processing using FSL and 3DSlicer, preoperative planning on 3DSlicer, and intraoperative 3D neuronavigation. Accuracy and precision of 3D SEEG reconstruction and 3D neuronavigation was assessed. RESULTS: We identified 125 entry points of SEEG electrodes during 26 operations. The accuracy of 3D reconstruction was 0.8 mm (range, 0-2 mm) with a precision of 1.5 mm. The accuracy of 3D SEEG neuronavigation was 2.68 mm (range, 0-6 mm). The precision of 3D neuronavigation was 1.48 mm. CONCLUSION: 3D neuronavigation for SEEG-guided epilepsy surgery using free software for post-processing of common MRI sequences is possible and a reliable method even with navigation systems without a brain extraction tool.

Using the pCANvas neck-bridging device in treating a wide-necked aneurysm of the basilar tip.

BACKGROUND AND IMPORTANCE: The endovascular treatment of recurrent wide-necked bifurcation aneurysms at the basilar tip remains very challenging. Many different techniques and devices have emerged in recent years as potential options but results remain less than controversial. The pCANvas is a relatively new device wielding neck-bridging properties with a haemodynamically active membrane acting as blood flow disrupter. CLINICAL PRESENTATION: We present the clinical case of a patient in whom multiple endovascular and microsurgical attempts failed to achieve the definitive treatment of a large and wide-necked basilar tip aneurysm. The patient underwent successful endovascular implantation of the novel pCANvas device across the recurrent aneurysm neck. The device limited the blood flow to the anerysmal lumen and thus promoted faster thrombosis. Third month follow-up confirmed complete obliteration of the aneurysm. CONCLUSION: The application of the pCANvas device offers a potential treatment option in difficult and recurrent aneurysms. The endovascular flow disruption is a relatively new feature aiming to create conditions for intraluminal thrombosis and is certainly promising for the treatment of complex bifurcation aneurysms.

Initial experience with precipitating hydrophobic injectable liquid in cerebral arteriovenous malformations.

BACKGROUND: Precipitating hydrophobic injectable liquid is a newly introduced liquid embolic agent for endovascular embolization with some technical advantages over other liquid embolic agents. We present our initial experience with precipitating hydrophobic injectable liquid in the endovascular treatment of cerebral arteriovenous malformations. METHODS: From October 2015 to January 2018, 27 patients harboring cerebral arteriovenous malformations underwent endovascular embolization with precipitating hydrophobic injectable liquid 25. Clinical features, angiographic results, procedural details, complications, and follow-up details were retrospectively analyzed. RESULTS: Twenty-seven patients with cerebral arteriovenous malformations were included. Total obliteration in one endovascular session was confirmed for 14/27 (52%) patients. Partial embolization was attained in 13 patients (48%) in whom staged treatment with following radiosurgery or surgery was planned. No mortality was recorded in this series. Complications during or after the embolization occurred in six of 27 (22.2%) patients. CONCLUSION: In our initial experience, precipitating hydrophobic injectable liquid has acceptable clinical outcome comparable to other liquid embolic agents. Although this is the largest reported study in arteriovenous malformation treatment with precipitating hydrophobic injectable liquid, further studies are needed to validate its safety and efficacy.

Early experience with a temporary bridging device (Comaneci) in the endovascular treatment of ruptured wide neck aneurysms.

BACKGROUND: The difficulties in obtaining complete and stable endovascular occlusion are most evident for ruptured aneurysms exhibiting a wide neck and unfavorable geometric features. The aim of our study was to present our experience with the Comaneci temporary bridging device in ruptured wide neck aneurysms. METHODS: From May to July 2017, 29 ruptured aneurysms underwent endovascular embolization with the Comaneci device. Angiographic and clinical results were retrospectively analyzed. RESULTS: 29 ruptured intracranial aneurysms from different locations were included. Successful embolization was achieved in all lesions; complete post-procedure occlusion was seen in 25 (86%) cases. Insufficient embolization or neck remnant was observed in four cases (13.7%). Complications probably related, directly related, or indirectly related to the device occurred in 3.44% of patients (1/29 patients). At least one angiographic follow-up was performed in each of the 29 cases. The 12 month follow-up examination has yet to be done. CONCLUSION: The Comaneci device offers a new promising and reliable technique that can safely support aneurysm coiling occlusion even in a rupture environment. However, long term monitoring of patients treated by this device is mandatory.

Cultured Cells Isolated from CNS Indolent B-Cell Lymphoma Have Characteristics of Mesenchymal Stem Cells: A Clinical Case and Scientific Research.

The case report presented here describes the culturing and characterization of mesenchymal stem cells (MSCs) isolated from a primary indolent B-cell lymphoma, located in the CNS of an immunocompetent patient. The presence of such cells in the tumor mass can further elucidate the pathogenesis of the disease and reveal possible future approaches for its treatment. We present a case report of a 61-year-old immunocompetent woman who had an episode of confusion with numbness in the right leg and the right arm, slurred and dysarthric speech and urine incontinence. The peripheral blood tests were normal. The neurological examination demonstrated a latent hemi-paresis of the right side, aphasia, discrete hypertension and bradypsychia. The ophthalmologic examination revealed left quadranopsia. Computed tomography and magnetic resonance imaging of the brain showed a 3.5 × 2.9 cm infiltrative neoplastic lesion involving the left temporal parenchyma. The morphological features and the immunophenotyping of the lymphoid cell composition were consistent with low-grade (indolent) B-lymphocyte non-Hodgkin's lymphoma of CNS. Cells, isolated from the resected tumor mass, were cultured in vitro in medium containing 10% fetal bovine serum (FBS) and characterized by their morphology, growth, phenotype, clonogenicity and osteogenic differentiation. It was apparent that the cultured cells isolated from the indolent B- cell lymphoma located in the CNS have the basic characteristics of mesenchymal stem cells. The presence of MSCs is described for the very first time in such type of tumor. The well-known immunosuppressive properties of the MSCs may represent another mechanism favouring the tumor growth.

Cartilage oligomeric protein, matrix metalloproteinase-3, and Coll2-1 as serum biomarkers in knee osteoarthritis: a cross-sectional study.

Biochemical markers reflecting joint remodeling in osteoarthritis (OA) are a promising diagnostic tool. The aim of this study was to investigate serum levels of candidate biomarkers in subjects with and without knee OA and assess their correlation with clinical parameters and knee structural damage. 56 patients with primary knee OA and 31 healthy controls participated in this study. Patients were separated into two groups: isolated knee OA and generalized OA. Clinical parameters were obtained by validated self-reported questionnaires and a visual analogue scale. Serum levels of cartilage oligomeric protein (COMP), matrix metalloproteinase-3 (MMP-3), and Coll2-1 were quantified by enzyme-linked immunosorbent assay. Knee structural damage was determined by plain X-ray and 1.5 T magnetic resonance imaging (MRI), using Kellgren-Lawrence (KL) grading scale and Whole-Organ Magnetic Resonance Imaging Score (WORMS), respectively. Compared to controls, patients had significantly higher median serum COMP (985 vs. 625 ng/ml; p < 0.001) and MMP-3 (36.85 vs. 22.10 ng/ml; p = 0.003) levels. Patients with radiographic evidence of KLII/III knee OA had greater median COMP levels than KLI patients (1095 vs. 720 ng/ml; p = 0.001). In the generalized OA group, mean MMP-3 levels were higher than in the isolated knee OA group (30.40 vs. 55.13 ng/ml; p < 0.001). COMP correlated positively with WORMS (r s = 0.454, p < 0.001) and MMP-3 (r s = 0.337, p = 0.003). Cut-off values for serum COMP and MMP-3 were determined. We observed higher serum COMP and MMP-3 levels in knee OA patients compared to controls. COMP may reflect knee structural damage, while MMP-3-OA "generalization".

Metachronous Development of Meningothelial Meningioma, Basal Cell Carcinoma, and Glioblastoma Multiforme in a Patient with Pancreatic Incidentaloma.

We report the unique case of a 61-year-old male patient with known pancreatic incidentaloma who additionally developed 3 other histologically different tumors: left sphenoid wing meningothelial meningioma, basal cell carcinoma of the occiput, and right occipital lobe glioblastoma multiforme. The latter were totally removed with a favorable clinical outcome. The patient's family history was unremarkable, and no data on any previous head and neck irradiation were found.

Infrared Thermography in Surgery of Newly Diagnosed Glioblastoma Multiforme: A Technical Case Report.

Infrared thermography (IRT) is a real-time non-contact diagnostic tool with a broad potential for neurosurgical applications. Here we describe the intraoperative use of this technique in a single patient with newly diagnosed glioblastoma multiforme (GBM). An 86-year-old female was admitted in the clinic with a 2-month history of slowly progressing left-sided paresis. Neuroimaging studies demonstrated an irregular space-occupying process consistent with a malignant glioma in the right fronto-temporo-insular region. An elective surgical intervention was performed by using 5-aminolevulinic acid fluorescence (BLUE 400, OPMI) and intraoperative IRT brain mapping (LWIR, 1.25 mRad IFOV, 0.05°C NETD). After dura opening, the cerebral surface appeared inconspicuous. However, IRT revealed a significantly colder area (Δt° 1.01°C), well corresponding to the cortical epicenter of the lesion. The underlying tumor was partially excised and the histological result was GBM. Intraoperative IRT seems to be a useful technique for subcortical convexity brain tumor localization. Further studies with a large number of patients are needed to prove the reliability of this method in GBM surgery.

Bilateral pallidotomy for Meige syndrome.

Meige syndrome (MS) is usually described as a combination of blepharospasm with oromandibular dystonia. There are a large number of case reports of deep brain stimulation (DBS) of the globus pallidus internus (GPI) for MS and only one report of unilateral pallidotomy (PT). We report the first case of staged bilateral PT for treatment of a patient with MS using intraoperative high-frequency stimulation in order to predict and prevent postoperative deficit. There was a significant improvement of the Burk-Fahn-Marsden dystonia rating scale from 26 to 3. There were no adverse postoperative neurological and neuropsychological events.

Stereoelectroencephalography Using Magnetic Resonance Angiography for Avascular Trajectory Planning: Technical Report.

BACKGROUND: Stereoelectroencephalography (SEEG) requires high-quality angiographic studies because avascular trajectory planning is a prerequisite for the safety of this procedure. Some epilepsy surgery groups have begun to use computed tomography angiography and magnetic resonance T1-weighted sequence with contrast enhancement for this purpose. OBJECTIVE: To present the first series of patients with avascular trajectory planning of SEEG based on magnetic resonance angiography (MRA). METHODS: Thirty-six SEEG explorations for drug-resistant focal epilepsy were performed from January 2013 to December 2015. A retrospective analysis of this consecutive surgical series was then performed. Magnetic resonance imaging included MRA with a modified contrast-enhanced magnetic resonance venography (MRV) protocol with a short acquisition delay, which allowed simultaneous arterial and venous visualization. Our criteria for satisfactory MRA were the visualization of at least first-order branches of the angular artery, paracentral and calcarine artery, and third-order tributaries of the superficial Sylvian vein, vein of Labbe, and vein of Trolard. RESULTS: Thirty-four patients underwent 36 SEEG explorations with 369 electrodes carrying 4321 contacts. Contrast-enhanced MRA using the MRV protocol was judged satisfactory for SEEG planning in all explorations. Postoperative complications were not observed in our series of 36 SEEG explorations, which included 50 transopercular insular trajectories. CONCLUSION: MRA using an MRV protocol may be applied for avascular trajectory planning during SEEG procedures. This technique provides a simultaneous visualization of cortical arteries and veins without the need for additional radiation exposure or intra-arterial catheter placement.

Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.

A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband. In conclusion, every case with neurodevelopmental delay or arrest, especially when accompanied by seizures, behavioral impairment, muscle hypotonia or extrapyramidal symptoms should undergo MRI with MR spectroscopy. Normal structural MRI doesn't exclude a creatine deficiency syndrome. Biochemical investigations of guanidinoacetate, creatine, and creatinine in body fluid should be done to diagnose cerebral creatine deficiency syndromes and to specify the deficient enzyme. Thus, a treatable disease will not be missed.

Intraoperative fluorescein staining for benign brain tumors.

OBJECTIVE: Successful use of high-dose fluorescein-sodium (20mg/kg) with a standard light microscope for resection of high-grade gliomas, meningiomas, hemangioblastoma and metastases was reported. The principle of brain tumor staining by fluorescein-sodium (Fl-Na) consists in the accumulation of fluorescein in brain tumors with impaired blood-brain barrier. The aim of our study was to investigate for the first time the usefulness of high-dose fluorescein in patients operated on for benign neuroepithelial brain tumors (grade I WHO tumors) with contrast enhancement on magnetic resonance imaging. METHODS: Our study included 11 patients operated on for benign neuroepithelial primary brain tumors with contrast enhancement on magnetic resonance imaging (MRI): pilocytic astrocytomas (5 patients), dysembrioplastic neuroepithelial tumors (4) and gangliogliomas grade I (2). In all cases, Fl-Na was injected intravenously (20mg/kg) just after the craniotomy using a peripheral venous line. The dural opening was performed 10min later. Microsurgical tumor resection using conventional neurosurgical microscope guided by the fluorescein staining was performed. RESULTS: Complete resection of the yellow-green stained tissue was achieved in 10 patients confirmed by postoperative control MRI study. Subtotal resection of the colored tissue was achieved in one case with fourth ventricle pilocytic astrocytoma because of the involvement of the medial eminence and functional constraints discovered during intraoperative neuromonitoring. Three patients have had a postoperative volume of resection greater than the tumor volume because of the planed perilesionectomy by our epilepsy surgery team. Surrounding tissue not stained by Fl-Na was obtained in these 3 cases. The histopathological examination did not find tumor tissue in the perilesional Fl-Na negative tissue. On the other hand, all 11 Fl-Na positive specimens presented signs of tumor involvement. We did not observe complications related to the use of high dose Fl-Na. CONCLUSIONS: High doses intravenous Fl-Na seems to be a useful intraoperative technique for delineation of benign neuroepithelial brain tumors with contrast enhancement. Further larger studies may reveal the real value of high doses Fl-Na as intraoperative method for increasing the extent of resection in these particular indications.

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.

Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant congenital disorder (prevalence, 1:125000-720000) characterized by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa, and short stature. The purpose of this study was to use targeted exome sequencing to identify the genetic cause of RSTS in a 6.5-year-old girl presenting typical features of this condition. Targeted exome sequencing of the patient DNA revealed de novo transition c.1066C>T corresponding to a novel nonsense mutation p.Q356X in the CREB-binding protein gene, CREBBP, whose haploinsufficiency is responsible for 50% to 60% of the RSTS cases. Based on comparing the clinical manifestations of our patient with those of patients carrying similar mutations, we supposed that haploinsufficiency is the possible functional consequence of p.Q356X mutation by creation of a loss-of-function CREBBP allele due to a premature stop codon and RSTS phenotype. Our findings expand the spectrum of mutations associated with this condition.