Vertical Parasagittal Hemispherotomy in a Pediatric Case of Epilepsy Due to Rasmussen Encephalitis: 2-Dimensional Operative Video.

Hemispherotomy is an effective disconnection technique for the treatment of different forms of drug-resistant epilepsy due to encephalopathies with unilateral hemispheric involvement.1-8 We describe the case of a 6-year-old child affected by Rasmussen encephalitis who underwent right vertical parasagittal hemispherotomy.9 The goal of the procedure was to isolate the basal ganglia region by interrupting the interhemispheric and intrahemispheric white matter connectivity. The main surgical steps include the transcortical approach to the lateral ventricle, the posterior callosotomy, the fimbria-fornix incision, the laterothalamic vertical incision, the anterior callosotomy, the frontobasal disconnection, and the transcaudate lateral incision to the anterior temporal horn.7,10 At 10-month follow-up, the patient was seizure free with a stable left hemiparesis. The antiepileptic therapy was progressively interrupted. The video describes the main surgical steps, using both intraoperative videos and advanced three-dimensional modeling of neuroimaging pictures. Patient' parents consented to the procedure. The participants and any identifiable individuals consented to publication of his/her image. Approval from the ethics committee was acquired.

A Rare Case of Cervico-Mediastinal Thyroid Teratoma.

Teratomas are rare germ cell tumors derived from multiple germinal cell layers. Thyroid teratomas, specifically, are exceptionally uncommon and present unique diagnostic and therapeutic challenges. Here, we report a case of cervico-mediastinal thyroid teratoma, highlighting diagnostic difficulties and surgical management. A 37-year-old woman presented with right lateral cervical swelling, leading to radiological imaging suggesting a thymic teratoma. However, cytology indicated a colloid cyst. Surgical removal was performed, revealing a mixed-type teratoma originating from the thyroid gland. Thyroid teratomas pose diagnostic and therapeutic challenges due to their rarity and complex nature. Further research is needed to establish standardized guidelines for their management.

Uniportal Video-Assisted Thoracoscopic Surgery Completion Lobectomy Long after Wedge Resection or Segmentectomy in the Same Lobe: A Bicenter Study.

BACKGROUND: Completion lobectomy (CL) following a prior resection in the same lobe may be complicated by severe pleural or hilar adhesions. The role of uniportal video-assisted thoracoscopic surgery (U-VATS) has never been evaluated in this setting. METHODS: Data were collected from two Italian centers. Between 2015 and 2022, 122 patients (60 men and 62 women, median age 67.7 ± 8.913) underwent U-VATS CL at least 4 weeks after previous lung surgery. RESULTS: Twenty-eight (22.9%) patients were affected by chronic obstructive pulmonary disease (COPD) and twenty-five (20.4%) were active smokers. Among the cohort, the initial surgery was performed using U-VATS in 103 (84.4%) patients, triportal-VATS in 8 (6.6%), and thoracotomy in 11 (9.0%). Anatomical segmentectomy was the initial surgery in 46 (37.7%) patients, while hilar lymphadenectomy was performed in 16 (13.1%) cases. CL was performed on 110 (90.2%) patients, segmentectomy on 10 (8.2%), and completion pneumonectomy on 2 (1.6%). Upon reoperation, moderate pleural adhesions were observed in 38 (31.1%) patients, with 2 (1.6%) exhibiting strong adhesions. Moderate hilar adhesions were found in 18 (14.8%) patients and strong adhesions in 11 (9.0%). The median operative time was 203.93 ± 74.4 min. In four (3.3%) patients, PA taping was performed. One patient experienced intraoperative bleeding that did not require conversion to thoracotomy. Conversion to thoracotomy was necessary in three (2.5%) patients. The median postoperative drainage stay and postoperative hospital stay were 5.67 ± 4.44 and 5.52 ± 2.66 days, respectively. Postoperative complications occurred in 34 (27.9%) patients. Thirty-day mortality was null. Histology was the only factor found to negatively influence intraoperative outcomes (p = 0.000). Factors identified as negatively impacting postoperative outcomes at univariate analyses were male sex (p = 0.003), age > 60 years (p = 0.003), COPD (p = 0.014), previous thoracotomy (p = 0.000), previous S2 segmentectomy (p = 0.001), previous S8 segmentectomy (p = 0.008), and interval between operations > 5 weeks (p= 0.005). In multivariate analysis, only COPD confirmed its role as an independent risk factor for postoperative complications (HR: 5.12, 95% CI (1.07-24.50), p = 0.04). CONCLUSIONS: U-VATS CL seems feasible and safe after wedge resection and anatomical segmentectomy.

Aneurysmal artery supplying pulmonary sequestration: successful combined approach.

A 62-year-old man was diagnosed with an asymptomatic intralobar pulmonary sequestration supplied by a short-neck proximal 57×25 mm aneurysmal artery originating from the mid-descending aorta. The patient underwent thoracic endovascular aneurysm repair; an aortic endograft was released to entirely restore the aberrant vessel. Then, pulmonary resection was performed. A triportal video-assisted left lower lobectomy was carried out. The thoracic endovascular aneurysm repair minimized the risk of bleeding and allowed a safe pulmonary resection with a minimally invasive approach.

Fit of biokinetic data in molecular radiotherapy: a machine learning approach.

BACKGROUND: In literature are reported different analytical methods (AM) to choose the proper fit model and to fit data of the time-activity curve (TAC). On the other hand, Machine Learning algorithms (ML) are increasingly used for both classification and regression tasks. The aim of this work was to investigate the possibility of employing ML both to classify the most appropriate fit model and to predict the area under the curve (τ). METHODS: Two different ML systems have been developed for classifying the fit model and to predict the biokinetic parameters. The two systems were trained and tested with synthetic TACs simulating a whole-body Fraction Injected Activity for patients affected by metastatic Differentiated Thyroid Carcinoma, administered with [131I]I-NaI. Test performances, defined as classification accuracy (CA) and percentage difference between the actual and the estimated area under the curve (Δτ), were compared with those obtained using AM varying the number of points (N) of the TACs. A comparison between AM and ML were performed using data of 20 real patients. RESULTS: As N varies, CA remains constant for ML (about 98%), while it improves for F-test (from 62 to 92%) and AICc (from 50 to 92%), as N increases. With AM, [Formula: see text] can reach down to - 67%, while using ML [Formula: see text] ranges within ± 25%. Using real TACs, there is a good agreement between τ obtained with ML system and AM. CONCLUSIONS: The employing of ML systems may be feasible, having both a better classification and a better estimation of biokinetic parameters.

Congenital Malformations of the Eye: A Pictorial Review and Clinico-Radiological Correlations.

Congenital malformations of the eye represent a wide and heterogeneous spectrum of abnormalities that may be part of a complex syndrome or be isolated. Ocular malformation severity depends on the timing of the causative event during eye formation, ranging from the complete absence of the eye if injury occurs during the first weeks of gestation, to subtle abnormalities if the cause occurs later on. Knowledge of ocular malformations is crucial to performing a tailored imaging protocol and correctly reporting imaging findings. Together with the ophthalmologic evaluation, imaging may help frame ocular malformations and identify underlying genetic conditions. The purpose of this pictorial review is to describe the imaging features of the main ocular malformations and the related ophthalmologic findings in order to provide a clinico-radiological overview of these abnormalities to the clinical radiologist. Sight is a crucial sense for children to explore the world and relate with their parents from birth. Vision impairment or even blindness secondary to ocular malformations deeply affects children's growth and quality of life.

Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.

Protocadherin-19 (PCDH19) developmental and epileptic encephalopathy causes an early-onset epilepsy syndrome with limbic seizures, typically occurring in clusters and variably associated with intellectual disability and a range of psychiatric disorders including hyperactive, obsessive-compulsive and autistic features. Previous quantitative neuroimaging studies revealed abnormal cortical areas in the limbic formation (parahippocampal and fusiform gyri) and underlying white-matter fibers. In this study, we adopted morphometric, network-based and multivariate statistical methods to examine the cortex and substructure of the hippocampus and amygdala in a cohort of 20 PCDH19-mutated patients and evaluated the relation between structural patterns and clinical variables at individual level. We also correlated morphometric alterations with known patterns of PCDH19 expression levels. We found patients to exhibit high-significant reductions of cortical surface area at a whole-brain level (left/right pvalue = 0.045/0.084), and particularly in the regions of the limbic network (left/right parahippocampal gyri pvalue = 0.230/0.016; left/right entorhinal gyri pvalue = 0.002/0.327), and bilateral atrophy of several subunits of the amygdala and hippocampus, particularly in the CA regions (head of the left CA3 pvalue = 0.002; body of the right CA3 pvalue = 0.004), and differences in the shape of hippocampal structures. More severe psychiatric comorbidities correlated with more significant altered patterns, with the entorhinal gyrus (pvalue = 0.013) and body of hippocampus (pvalue = 0.048) being more severely affected. Morphometric alterations correlated significantly with the known expression patterns of PCDH19 (rvalue = -0.26, pspin = 0.092). PCDH19 encephalopathy represents a model of genetically determined neural network based neuropsychiatric disease in which quantitative MRI-based findings correlate with the severity of clinical manifestations and had have a potential predictive value if analyzed early.

Are the Efficacy and Safety of Chest Tubes in Uniportal Video-Assisted Thoracic Surgery Related to the Level of Intercostal Space Insertion or to the Drain Type? A Prospective Multicenter Study.

OBJECTIVES: The aim of this study is to evaluate if the efficacy and safety of chest tube placement are influenced by the level of intercostal space insertion (uniportal VATS vs. biportal VATS) or by the type of drain employed (standard vs. smart coaxial drain). METHODS: Data on patients who underwent either uniportal or biportal VATS upper lobectomies with lymphadenectomy were prospectively collected in three European centers. The uniportal VATS group with a 28 Fr standard chest tube (U-VATS standard) was compared with the uniportal VATS group with a 28 Fr smart drain (U-VATS smart), and U-VATS smart was also compared with biportal VATS with a 28 Fr smart drain inserted in the VIII intercostal space (Bi-VATS smart). RESULTS: When comparing the U-VATS standard group with the U-VATS smart, a higher fluid output was recorded in the U-VATS smart (p: 0.004) in the III post-operative day (p.o.) and overall (p: 0.027), with a lower 90-day re-admission in the U-VATS smart (p: 0.04). The Bi-VATS smart group compared to U-VATS smart showed a higher fluid output in the I p.o. (p < 0.001), with no difference in total fluid amount or hospitalization. The Bi-VATS smart recorded a lower incidence (p < 0.001) of residual pleural space or effusion (p: 0.004) at chest X-rays prior to drain removal but a higher level of pain and chronic intercostal neuralgia (p: 0.03). CONCLUSIONS: Chest tube insertion through the same incision space in uniportal VATS seems to be safe and effective. Smart drains can improve the fluid output in uniportal VATS, as if the drainage were inserted in a lower space (i.e., biportal VATS), but with less discomfort.

Magnetic resonance imaging based neurosurgical planning on hololens 2: A feasibility study in a paediatric hospital.

Objective: The goal of this work is to show how to implement a mixed reality application (app) for neurosurgery planning based on neuroimaging data, highlighting the strengths and weaknesses of its design. Methods: Our workflow explains how to handle neuroimaging data, including how to load morphological, functional and diffusion tensor imaging data into a mixed reality environment, thus creating a first guide of this kind. Brain magnetic resonance imaging data from a paediatric patient were acquired using a 3 T Siemens Magnetom Skyra scanner. Initially, this raw data underwent specific software pre-processing and were subsequently transformed to ensure seamless integration with the mixed reality app. After that, we created three-dimensional models of brain structures and the mixed reality environment using Unity™ engine together with Microsoft® HoloLens 2™ device. To get an evaluation of the app we submitted a questionnaire to four neurosurgeons. To collect data concerning the performance of a user session we used Unity Performance Profiler. Results: The use of the interactive features, such as rotating, scaling and moving models and browsing through menus, provided by the app had high scores in the questionnaire, and their use can still be improved as suggested by the performance data collected. The questionnaire's average scores were high, so the overall experiences of using our mixed reality app were positive. Conclusion: We have successfully created a valuable and easy-to-use neuroimaging data mixed reality app, laying the foundation for more future clinical uses, as more models and data derived from various biomedical images can be imported.

Giant intrathoracic cystic schwannoma resected by video-assisted thoracoscopic surgery.

Schwannoma is a benign tumour originating from the Schwann cells. Patients can remain asymptomatic, as the onset of symptoms usually depends on the compressive effect on adjacent organs; dimensional and morphological variability increase the time for the diagnosis. We report the case of a successful surgical resection, performed by video-assisted thoracoscopic surgery, on a patient with radiological evidence of a massive cystic intrathoracic neoformation, histologically revealed to be a peculiar Schwannoma.

Concomitant Intubation with Minimal Cuffed Tube and Rigid Bronchoscopy for Severe Tracheo-Carinal Obstruction.

BACKGROUND: Our aim was to report on the use of an innovative technique for airway management utilizing a small diameter, short-cuffed, long orotracheal tube for assisting operative rigid bronchoscopy in critical airway obstruction. METHODS: We retrospectively reviewed the clinical data of 36 patients with life-threatening critical airway stenosis submitted for rigid bronchoscopy between January 2008 and July 2021. The supporting ventilatory tube, part of the Translaryngeal Tracheostomy KIT (Fantoni method), was utilized in tandem with the rigid bronchoscope during endoscopic airway reopening. RESULTS: Indications for collateral intubation were either tumors of the trachea with near-total airway obstruction (13), or tumors of the main carina with total obstruction of one main bronchus and possible contralateral involvement (23). Preliminary dilation was necessary before tube placement in only 2/13 patients with tracheal-obstructing tumors (15.4%). No postoperative complications were reported. There was one case of an intraoperative cuff tear, with no further technical problems. CONCLUSIONS: In our experience, this innovative method proved to be safe, allowing for continuous airway control. It enabled anesthesia inhalation, use of neuromuscular blockage and reliable end-tidal CO2 monitoring, along with protection of the distal airway from blood flooding. The shorter time of the procedure was due to the lack of need for pauses to ventilate the patient.

Atypical parathyroid tumor: clinical and parathyroid hormone response to surgical treatment.

Purpose: Primary hyperparathyroidism (PHPT) is caused by typical adenoma (TA), multiglandular disease (MD), or parathyroid carcinoma (PC), and in a smaller percentage of cases by atypical parathyroid tumor (APT). The objective of this study is the retrospective analysis of clinical features and parathyroid hormone (PTH)/calcium response to surgery in patients who underwent parathyroidectomy for symptomatic PHPT with histological evidence of APT. Methods: We retrospectively reviewed our institutional experience in the management of PHPT from January 2016 to December 2021 focusing on those patients presenting APTs. We analyzed the clinical features of this disease and PTH/calcium response to surgical treatment in APTs compared to the other pathological conditions causing PHPT. Results: In a cohort of 125 patients with PHPT we found 112 TAs (89.6%), 6 APTs (4.8%), 6 PCs (4.8%), and only 1 MD (0.8%). APTs in comparison to other parathyroid diseases showed peculiar features such as adhesion to the surrounding structures and a frequent intrathyroidal location, which may justify thyroid loboistmectomy adopted in most of the observed cases. APTs showed significantly higher preoperative PTH values compared to TA + MD and were relevant to PC. Conclusion: Due to its rarity, there is a lack of specific indications in the management of APTs. Biochemical features observed in APT and PC can be related to similar biological behavior. However, some specific features observed preoperatively in some cases of PHPT might suggest presence of an APT, which could be helpful mostly in surgical and postoperative management. Further studies are required to confirm the results of the present preliminary report.

Facing the Shadow Pandemic: Correlation and Trend Analyses of Violence Reports from Women to the Italian National Anti-Violence Number during 2021.

OBJECTIVES: To help to tackle gender-based violence against women in the aftermath of COVID-19 or other potential crisis situations, as recommended by the European Institute for Gender Equality, the present study aims to investigate the relationship between calls to the National Anti-violence Number (NAN) and the socio-sanitary pandemic factors during 2021, a period in which the scenario changed due to containment measures that gradually allowed women to emerge from the condition of isolation. In addition, the present work aims to identify significant changes in the number of calls to NAN during the progression of the pandemic in 2021. METHODS: Using Italian Civil Protection Department data on the socio-sanitary pandemic factors (defined by daily number of cases, swabs, deaths, hospitalizations, dismissions, intensive care unit hospitalizations, people isolated at home, and quarantine after 15 and 30 days) and NAN data. Correlation analyses, a joinpoint regression analysis, and Granger causality tests were performed. RESULTS: The number of calls correlated with the daily number of cases, swabs, deaths, hospitalizations, dismissions, intensive care unit hospitalizations, and quarantine after 15 and 30 days. The identified joinpoints showed significant changes in the number of daily anti-violence calls during the year. Furthermore, we found evidence of a significant causality between daily hospitalizations, daily home quarantined, daily dismissed patients, and calls to NAN. CONCLUSIONS: The results underline the influence of containment measures on the increased access to NAN, suggesting the need for a greater implementation of social and psychological support services in other potential crisis situations.

CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.

The clinical phenotype of Cyclin-Dependent Kinase-Like 5 (CDKL5) deficiency disorder (CDD) has been delineated but neuroimaging features have not been systematically analyzed. We studied brain magnetic resonance imaging (MRI) scans in a cohort of CDD patients and reviewed age at seizure onset, seizure semiology, head circumference. Thirty-five brain MRI from 22 unrelated patients were included. The median age at study entry was 13.4 years. In 14/22 patients (85.7%), MRI in the first year of life was unremarkable in all but two. In 11/22, we performed MRI after 24 months of age (range 2.5-23 years). In 8 out of 11 (72.7%), MRI showed supratentorial atrophy and in six cerebellar atrophy. Quantitative analysis detected volumetric reduction of the whole brain (-17.7%, P-value = 0.014), including both white matter (-25.7%, P-value = 0.005) and cortical gray matter (-9.1%, P-value = 0.098), with a reduction of surface area (-18.0%, P-value = 0.032), mainly involving the temporal regions, correlated with the head circumference (ρ = 0.79, P-value = 0.109). Both the qualitative structural assessment and the quantitative analysis detected brain volume reduction involving the gray and white matter. These neuroimaging findings may be related to either progressive changes due to CDD pathogenesis, or to the extreme severity of epilepsy, or both. Larger prospective studies are needed to clarify the bases for the structural changes we observed.

Massive, life-threatening hemoptysis due to localized granulomatosis with polyangiitis.

Massive hemoptysis may be related to a wide spectrum of diseases whose differential diagnosis can be challenging, also due to the medical emergency condition.We present a case of a 33-year-old woman presented to our department with sudden, life-threatening hemoptysis from unknown etiology, which required a rescue pulmonary lobectomy after resuscitation maneuvers. Histology proved to be a localized Wegener granulomatosis. Our case shows that granulomatosis should always be considered among the possible, although rarer, causes of massive hemoptysis.

Association of Lack of Speech Arrest During Cortical Stimulation With Interhemispheric Reorganization of the Functional Language Network in Patients With Brain Tumors.

BACKGROUND. Brain tumors induce language reorganization, which may influence the extent of resection in surgical planning. Direct cortical stimulation (DCS) allows definitive language mapping during awake surgery by locating areas of speech arrest (SA) surrounding the tumor. Although functional MRI (fMRI) combined with graph theory analysis can illustrate whole-brain network reorganization, few studies have corroborated these findings with DCS intraoperative mapping and clinical language performance. OBJECTIVE. We evaluated whether patients with low-grade gliomas (LGGs) without SA during DCS show increased right-hemispheric connections and better speech performance compared with patients with SA. METHODS. We retrospectively recruited 44 consecutive patients with left perisylvian LGG, preoperative language task-based fMRI, speech performance evaluation, and awake surgery with DCS. We generated language networks from ROIs corresponding to known language areas (i.e., language core) on fMRI using optimal percolation. Language core connectivity in the left and right hemispheres was quantified as fMRI laterality index (LI) and connectivity LI on the basis of fMRI activation maps and connectivity matrices. We compared fMRI LI and connectivity LI between patients with SA and without SA and used multivariable logistic regression (p < .05) to assess associations between DCS and connectivity LI, fMRI LI, tumor location, Broca area and Wernicke area involvement, prior treatments, age, handedness, sex, tumor size, and speech deficit before surgery, within 1 week after surgery, and 3-6 months after surgery. RESULTS. Patients with SA showed left-dominant connectivity; patients without SA lateralized more to the right hemisphere (p < .001). Between patients with SA and those without, fMRI LI was not significantly different. Patients without SA showed right-greater-than-left connectivity of Broca area and premotor area compared with patients with SA. Regression analysis showed significant association between no SA and right-lateralized connectivity LI (p < .001) and fewer speech deficits before (p < .001) and 1 week after (p = .02) surgery. CONCLUSION. Patients without SA had increased right-hemispheric connections and right translocation of the language core, suggesting language reorganization. Lack of interoperative SA was associated with fewer speech deficits both before and immediately after surgery. CLINICAL IMPACT. These findings support tumor-induced language plasticity as a compensatory mechanism, which may lead to fewer postsurgical deficits and allow extended resection.

Normative values of the topological metrics of the structural connectome: A multi-site reproducibility study across the Italian Neuroscience network.

PURPOSE: The use of topological metrics to derive quantitative descriptors from structural connectomes is receiving increasing attention but deserves specific studies to investigate their reproducibility and variability in the clinical context. This work exploits the harmonization of diffusion-weighted acquisition for neuroimaging data performed by the Italian Neuroscience and Neurorehabilitation Network initiative to obtain normative values of topological metrics and to investigate their reproducibility and variability across centers. METHODS: Different topological metrics, at global and local level, were calculated on multishell diffusion-weighted data acquired at high-field (e.g. 3 T) Magnetic Resonance Imaging scanners in 13 different centers, following the harmonization of the acquisition protocol, on young and healthy adults. A "traveling brains" dataset acquired on a subgroup of subjects at 3 different centers was also analyzed as reference data. All data were processed following a common processing pipeline that includes data pre-processing, tractography, generation of structural connectomes and calculation of graph-based metrics. The results were evaluated both with statistical analysis of variability and consistency among sites with the traveling brains range. In addition, inter-site reproducibility was assessed in terms of intra-class correlation variability. RESULTS: The results show an inter-center and inter-subject variability of <10%, except for "clustering coefficient" (variability of 30%). Statistical analysis identifies significant differences among sites, as expected given the wide range of scanners' hardware. CONCLUSIONS: The results show low variability of connectivity topological metrics across sites running a harmonised protocol.

Vertical Hemispherotomy: Contribution of Advanced Three-Dimensional Modeling for Presurgical Planning and Training.

Vertical hemispherotomy is an effective treatment for many drug-resistant encephalopathies with unilateral involvement. One of the main factors influencing positive surgical results and long-term seizure freedom is the quality of disconnection. For this reason, perfect anatomical awareness is mandatory during each step of the procedure. Although previous groups attempted to reproduce the surgical anatomy through schematic representations, cadaveric dissections, and intraoperative photographs and videos, a comprehensive understanding of the approach may still be difficult, especially for less experienced neurosurgeons. In this work, we reported the application of advanced technology for three-dimensional (3D) modeling and visualization of the main neurova-scular structures during vertical hemispherotomy procedures. In the first part of the study, we built a detailed 3D model of the main structures and landmarks involved during each disconnection phase. In the second part, we discussed the adjunctive value of augmented reality systems for the management of the most challenging etiologies, such as hemimegalencephaly and post-ischemic encephalopathy. We demonstrated the contribution of advanced 3D modeling and visualization to enhance the quality of anatomical representation and interaction between the operator and model according to a surgical perspective, optimizing the quality of presurgical planning, intraoperative orientation, and educational training.

A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report.

Molybdenum cofactor deficiency (MoCD) is a rare and severe autosomal recessive in-born error of metabolism caused by the mutation in MOCS1, MOCS2, MOCS3 or GEPH genes, with an incidence ranging between 1 in 100,000 and 200,000 live births. The clinical presentation with seizures, lethargy and neurologic deficits reflects the neurotoxicity mediated via sulphite accumulation, and it occurs within the first hours or days after birth, often leading to severe neurodegeneration and the patient's death within days or months. The Imaging of Choice is a brain-specific MRI technique, which is usually performed without contrast and shows typical radiological findings in the early phase, such as diffuse cerebral oedema and infarction affecting the cortex and the basal ganglia and the white matter, as well as in the late phase, such as multicystic encephalomalacia. Our case report represents a novelty in the field, since the patient underwent a contrast-enhanced MRI to exclude a concomitant infectious disease. In the frame of the clinical presentation and laboratory data, we describe the MoCD Imaging findings for MRI morphological and advanced sequences, presenting a new contrast-enhanced MRI pattern characterized by the diffuse and linear leptomeningeal enhancement of brain, cord and spinal roots. The early identification of molybdenum cofactor deficiency is crucial because it may lead to the best multidisciplinary therapy for the patient, which is focused on the prompt and optimal management of the complications.