MORANA G.

No description

In children, tumors of the spine are much rarer than intracranial tumors. They are classified into intramedullary, intradural-extramedullary, and extradural tumors. Magnetic resonance imaging provides crucial information regarding the extent, location, and internal structure of the mass, thus critically narrowing the differential diagnosis and...

Central diabetes insipidus (CDI) is a complex disorder in which large volumes of dilute urine are excreted due to arginine-vasopressin deficiency, and it is caused by a variety of conditions (genetic, congenital, inflammatory, neoplastic, traumatic) that arise mainly from the hypothalamus. The differential diagnosis between diseases presenting...

Cerebellar involvement by infectious-inflammatory conditions is rare in children. Most patients present with acute ataxia, and are typically previously healthy, young (often preschool) children. Viral involvement is the most common cause and ranges from acute postinfectious ataxia to acute cerebellitis MR imaging plays a crucial role in the...

BACKGROUND: Bilateral lambdoid and posterior sagittal synostosis is a rarely encountered multisutural craniosynostosis accounting for 0.3%-0.7% of all craniosynostoses. It has been named "Mercedes- Benz Syndrome" (MBS) because of the bone ridges that resemble the Mercedes-Benz logo. The typical head shape is usually described as anterior...

Objective To assess diagnostic accuracy of cranial ultrasound (CUS) performed through the anterior fontanelle (AF) and mastoid fontanelle (MF) in detecting cerebellar haemorrhages (CBH) in very low birthweight (VLBW) infants. Setting Third-level neonatal intensive care unit (NICU). Design VLBW infants consecutively admitted at Gaslini...

Objectives: Drug resistant epilepsy has rarely been reported following posterior reversible encephalopathy syndrome (PRES), with few cases of mesial temporal sclerosis (MTS). The aim of this study was to report clinical and neuroimaging features of MTS subsequent to PRES in hemato-oncologic/stem cell transplanted children. Materials and...

Background: Charcot-Marie-Tooth (CMT) neuropathies represent the most common forms of inherited polyneuropathies. CMT2A, the axonal form, accounts for about one third of all CMT cases. Variants in the MFN2 gene have been recognized to be a major cause of CMT2A. To date, more than 100 pathogenetic mutations in MFN2 have been identified, leading...

Background Cerebellar hemorrhage is a complication of extreme prematurity with a significant impact on the neurodevelopmental outcome. It has been shown that cerebellar hemorrhage is associated with a reduction in the anteroposterior diameter of the pons on the midline sagittal plane at term-equivalent age, suggesting that cerebellar injury may...

BACKGROUND AND PURPOSE: The anatomy of the deep venous system is characterized by a great variability that might play an important role in the pathogenesis of brain lesions in the preterm brain. The aim of this study was to compare the anatomy of cerebral subependymal veins evaluated on SWI venography in 3 groups of neonates with normal brain...

Brain tumors are the most common solid tumors in childhood. There is the need for biomarkers of residual disease, therapy response and recurrence. Cerebrospinal fluid (CSF) is a source of brain tumor biomarkers. We analyzed the proteome of waste CSF from extraventricular drainage (EVD) from 29 children bearing different brain tumors and 17...

Interferon-γ receptor 1 (IFN-γR1) deficiency is one of the primary immunodeficiencies conferring Mendelian Susceptibility to Mycobacterial Disease (MSMD). Some cases of neoplasms have been recently reported in patients with MSMD, underlying the already known link between immunodeficiency and carcinogenesis. We report the first case of...

Purpose: The aim of this study was to compare arterial spin labeling (ASL) and dynamic susceptibility contrast (DSC) MRI perfusion with respect to diagnostic performance in tumor grading in pediatric patients with low- and high-grade astrocytic tumors (AT). Methods: We retrospectively analyzed 37 children with histologically proven treatment...

Objective: Many neonatal intensive care units (NICUs) have adopted the practice of performing routine brain MRI in very low birth weight (VLBW) infants at term-equivalent age in order to better evaluate prematurity-related acquired lesions. A number of unexpected brain abnormalities of potential clinical significance can be visualised on...

Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by...

Aim: Punctate white matter lesions (PWML) are frequently detected in preterm infants undergoing brain MRI at term equivalent age (TEA). The aims of this study were to assess prevalence of PWML and to identify risk factors for PWML in VLBW infants. Methods: Brain MRI scans obtained at TEA and clinical charts of a consecutive sample of very low...

The genetic causes of abnormal pituitary development have been extensively studied in the last few years. ROBO1 is involved in neurogenesis and axon guidance. Loss-of-function variants in ROBO1 have been associated with pituitary stalk interruption syndrome (PSIS), suggesting that its haploinsufficiency could impair the guidance of hypothalamic...