Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.

Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive disorder showing a pediatric or adult onset. First described in 1996 by Labrune and colleagues, it was only in 2016 that bi-allelic variants in a non-protein coding gene, SNORD118, were found as the cause for LCC, differentiating this syndrome from coats plus (CP). SNORD118 transcribes for a small nucleolar RNA, which is necessary for correct ribosome biogenesis, hence the classification of LCC among ribosomopathies. The syndrome is characterized by a combination of white matter hyperintensities, calcifications, and cysts on brain MRI with varying neurological signs. Corticosteroids, surgery, and recently bevacizumab, have been tried with unclear results since the natural history of the disease remains elusive. To date, 67 patients with a pediatric onset of disease have been described in the literature, with a clinical-radiological follow-up carried out in only eleven of them. We described the clinical-radiological follow-up from birth to almost five years of age of a late-preterm patient diagnosed with LCC and carried out a thorough overview of pediatric patients described in the literature. It is important to gather serial clinical-radiological data from other patients to depict the natural history of this disease, aiming to deeply depict genotype-phenotype correlations and make the role of new therapeutics clearer.

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.

The primary anatomical defect leading to periventricular nodular heterotopia occurs within the neural progenitors along the neuroepithelial lining of the lateral ventricles and results from a defect in the initiation of neuronal migration, following disruption of the neuroependyma and impaired neuronal motility. Growing evidence indicates that the FLNA-dependent actin dynamics and regulation of vesicle formation and trafficking by activation of ADP-ribosylation factors (ARFs) can play an important role in this cortical malformation. We report the first inherited variant of ARF1 in a girl with intellectual disability and periventricular nodular heterotopia who inherited the variant from the father with previously undiagnosed single nodular heterotopia and mild clinical expression. Additionally, both patients presented some features suggestive of hypohidrotic ectodermal dysplasia. These clinical features showed similarities to those of three previously reported cases with ARF1 missense variants, confirming that haploinsufficiency of this gene causes a recognisable neurological disorder with abnormal neuronal migration and variable clinical expressivity.

Lumboperitoneal shunt in idiopathic normal pressure hydrocephalus: a prospective controlled study.

OBJECTIVE: In this prospective, controlled, monocentric study, we described the clinical and neuroimaging 12-month follow-up of two parallel cohorts of subjects with idiopathic normal pressure hydrocephalus (iNPH), who did or did not undergo lumboperitoneal shunt (LPS). METHODS: We recruited 78 iNPH patients. At baseline, subjects underwent clinical and neuropsychological assessments, 3 T magnetic resonance imaging (MRI), and tap test. After baseline, 44 patients (LPS group) opted for LPS implantation, whereas 34 subjects (control group) declined surgery. Both cohorts were then followed up for 12 months through scheduled clinical and neuropsychological evaluations every 6 months. 3 T MRI was repeated at 12-month follow-up. RESULTS: Gait, balance, and urinary continence improved in the LPS group, without significant influence on cognitive functions. Conversely, gait and urinary continence worsened in the control group. No preoperative MRI parameter was significant outcome predictor after LPS. Of relevance, in responders to LPS, we found postoperative reduction of periventricular white matter (PWM) hyperintensities, which were instead increased in the control group. CONCLUSIONS: LPS is safe and effective in iNPH. An early surgical treatment is desirable to prevent clinical worsening. Post-surgery decrease of PWM hyperintensities may be a useful MRI marker surrogate for clinical effectiveness of LPS.

Stereotactic biopsy approach to the upper clivus through the middle fossa floor that avoids pneumatised cavities and the intradural compartment.

BACKGROUND: Biopsies of clival lesions are usually performed, under general anaesthesia, through an anterior endoscopic approach or, alternatively, through a trans-nasal or trans-oral stereotactic approach. METHODS: A 57-year-old man with a symptomatic osteolytical lesion of the clivus, who refused general anaesthesia, underwent a sterotactically guided biopsy of the lesion by an antero-lateral approach through the temporal and sphenoid bones. RESULTS: Biopsy was successfully performed and the resulting diagnosis was myeloma. The patient was comfortable during and after surgery and there were no complications. CONCLUSIONS: The present stereotactic antero-lateral approach to the biopsy of the upper clivus can be considered an useful adjunct to the current trans-oral and transnasal approaches that often require general anaesthesia.

Facing contrast-enhancing gliomas: perfusion MRI in grade III and grade IV gliomas according to tumor area.

Tumoral neoangiogenesis characterizes high grade gliomas. Relative Cerebral Blood Volume (rCBV), calculated with Dynamic Susceptibility Contrast (DSC) Perfusion-Weighted Imaging (PWI), allows for the estimation of vascular density over the tumor bed. The aim of the study was to characterize putative tumoral neoangiogenesis via the study of maximal rCBV with a Region of Interest (ROI) approach in three tumor areas-the contrast-enhancing area, the nonenhancing tumor, and the high perfusion area on CBV map-in patients affected by contrast-enhancing glioma (grades III and IV). Twenty-one patients were included: 15 were affected by grade IV and 6 by grade III glioma. Maximal rCBV values for each patient were averaged according to glioma grade. Although rCBV from contrast-enhancement and from nonenhancing tumor areas was higher in grade IV glioma than in grade III (5.58 and 2.68; 3.01 and 2.2, resp.), the differences were not significant. Instead, rCBV recorded in the high perfusion area on CBV map, independently of tumor compartment, was significantly higher in grade IV glioma than in grade III (7.51 versus 3.78, P = 0.036). In conclusion, neoangiogenesis encompasses different tumor compartments and CBV maps appear capable of best characterizing the degree of neovascularization. Facing contrast-enhancing brain tumors, areas of high perfusion on CBV maps should be considered as the reference areas to be targeted for glioma grading.

Temozolomide combined with radiotherapy in the treatment of recurrent cranial meningioma previously treated with multiple surgical resections and two sessions of radiosurgery: a case report and literature review.

Meningioma is a common primary brain tumor in adults. The treatment approach depends on its grade, size and symptoms. The case reported here was a repeatedly recurring transitional meningioma, previously treated with several surgical procedures and two sessions of cranial radiosurgery. At the time of last relapse, temozolomide was administered alone and combined with external beam radiation therapy. At the last follow-up after 38 months, the disease was stable. In conclusion, in this case of plurirecurrent meningioma, treatment with temozolomide alone and in combination with radiotherapy was feasible and associated with limited morbidity, providing clinical benefit and long local disease control. We discuss the case comparing our approach with other experiences reported in the literature.

Early surgical experience with minimally invasive percutaneous approach for patients with metastatic epidural spinal cord compression (MESCC) to poor prognoses.

PURPOSE: This study was designed to assess the impact of minimally invasive surgery (MIS) for the treatment of patients with metastatic epidural spinal cord compression (MESCC) and vertebral body fracture, in terms of feasibility, clinical improvement, and morbidity. METHODS: Twenty-five consecutive patients with diagnosis of MESCC from solid primary tumors were treated between January 2008 and June 2010 at our institution. All patients, after multidisciplinary assessment, were considered with poor prognosis because of their disease's extension and/or other clinical conditions. Mini-invasive percutaneous surgery was performed in all patients followed by radiotherapy within 2 weeks postoperatively. Clinical outcome was evaluated by modified visual analog scale for pain, Frankel Scale for neurologic deficit, and magnetic resonance imaging or computed tomography scan. RESULTS: Clinical remission of pain was obtained in the vast majority of patients (96%). Improvement of neurological deficit was observed in 22 patients (88%). No major morbidity or perioperative mortality occurred. The average hospital stay was 6 days. Local recurrence occurred in two patients (8%). Median survival was 10 (range, 6-24) months. Overall survival at 1 year was 43%. CONCLUSIONS: For patients with MESCC and body fracture, with limited life expectancy, minimally invasive spinal surgery followed by radiotherapy, is feasible and provides clinical benefit in most of patients, with low morbidity. We believe that a minimally invasive approach can be an alternative surgical method compared with more aggressive or demanding procedures, which in selected patients with metastatic spinal cord compression with poor prognosis could represent overtreatment.

Magnetic resonance elastography: a general overview of its current and future applications in brain imaging.

Magnetic resonance elastography (MRE) has been developed over the last few years as a non-invasive means of evaluating the elasticity of biological tissues. The presence of the skull has always prevented semeiotic palpation of the brain, but MRE now offers the possibility of "palpating by imaging" in order to detect brain consistency under physiological and pathological conditions. The aim of this article is to review the current state-of-the-art of MRE imaging and discuss its possible future diagnostic applications in neuroscience.

Laryngeal schwannoma in an 8-year-old boy with inspiratory dyspnea.

BACKGROUND: Schwannomas of the larynx are rare lesions in the pediatric age group. METHODS: In this article, we report on the neuroimaging features of a schwannoma arising from the left aryepiglottic fold in an 8-year-old boy with a 6-month history of inspiratory dyspnea. RESULTS: Neuroimaging showed a well-defined, avoid mass originating from the left aryepiglottic fold. The lesion was removed endoscopically. CONCLUSION: Complete removal of laryngeal schwannomas is curative, and adjuvant treatment is not required.