A Case Report of Malignant Cerebellopontine Angle Lesion Highlighting the Interdisciplinary Diagnostic Challenge in the Case of Unilateral Progressive Hearing Loss.

The authors present the case of a young boy who experienced progressive unilateral hearing loss initially believed to be unrelated to any other medical condition. The patient received a thorough evaluation, which included a comprehensive battery of audiological tests, a CT scan, and a gadolinium-enhanced MRI. A repeated imaging investigation revealed the presence of a mass that mimicked a vestibular schwannoma (VS), but despite this, the boy was ultimately diagnosed with cerebral manifestations of B-cell acute lymphoblastic leukemia (B-ALL).

Infectious spondylodiscitis and kyphosis correction in an infant: a case report.

Background: Neonatal infectious spondylodiscitis is a rare bony infection with atypical clinical presentation and non-specific systemic symptoms. Diagnosis and treatment are often delayed resulting in vertebral destruction and severe complications. We retrospectively reviewed the case of an infant with infectious spondylodiscitis resulting in T12 body destruction and marked angular kyphosis.

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.

Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of the congenital/childhood cases are attributable to genetic causes, highlighting the importance of genetic testing in this class of disorders. Here we applied a multi-step strategy for the molecular diagnosis of HL in 125 patients, which included: (1) an accurate clinical evaluation, (2) the analysis of and genes, (3) the evaluation and deletions via Multiplex Ligation Probe Amplification (MLPA), (4) Whole Exome Sequencing (WES) in patients negative to steps 2 and 3.

Real-Time Tele-Mentored Low Cost "Point-of-Care US" in the Hands of Paediatricians in the Emergency Department: Diagnostic Accuracy Compared to Expert Radiologists.

Background: The use of point-of-care ultrasonography (POC US) in paediatrics is increasing. This study investigated the diagnostic accuracy of POC US in children accessing the emergency department (ED) when performed by paediatricians under the remote guidance of radiologists (TELE POC).

Methods: Children aged 0 to 18 years accessing the ED of a third level research hospital with eight possible clinical scenarios and without emergency/severity signs at the triage underwent three subsequent US tests: by a paediatrician guided remotely by a radiologist (TELE POC); by the same radiologist (UNBLIND RAD); by an independent blinded radiologist (BLIND RAD).

When a lymphatic malformation determines a bowel volvulus: Are clinical status and images always reliable?

Introduction: An acute abdomen in the form of small-bowel volvulus could be a presentation of a lymphatic malformation in childhood.

Case Presentation: A 5year old male was admitted to our Institute for an acute abdomen. Clinical aspects and radiological images were not specific for a certain diagnosis.

Count-rate analysis from clinical scans in PET with LSO detectors.

The purpose of optimising the acquisition parameters in positron emission tomography is to improve the quality of the diagnostic images. Optimisation can be done by maximising the noise equivalent count rate (NECR) that in turn depends on the coincidence rate. For each bed position the scanner records coincidences and singles rates.

A brain metastasis, with no uptake of 99mTc-ECD, secondary to Hurtle cell carcinoma of the thyroid.

Visualization of cerebral perfusion with Single Photon Emission Computed Tomography (SPET) needs lipophil radiotracers which are able to cross the intact blood-brain-barrier (BBB); moreover local uptake must reflect regional cerebral blood flow. In the last decade many radiopharmaceuticals have been suggested and employed for this purpose. Recently a new molecule has been synthesized: technetium-99m-labeled ethyl cysteinate dimer (99mTc-ECD).

SPET imaging of intracranial tumours with 99Tcm-sestamibi.

Single photon emission tomography (SPET) employing 99Tcm-sestamibi (MIBI) injected intravenously was performed in 27 patients for pre-surgical evaluation of intraparenchymal brain tumours. A computerized tomography (CT) scan was performed in 26 patients, magnetic resonance imaging (MRI) in 8 patients and digital subtraction angiography (DSA) in 14 patients. Visual analysis of the SPET scans was performed using a 4-point scale relating to background activity, to evaluate MIBI uptake in the tumour.