Neuroimaging patterns in patients with mitochondrial leukoencephalopathies.

Background And Objectives: Leukoencephalopathies are characterized by white matter (WM) abnormalities and include various primary mitochondrial diseases (MD) that impact mitochondrial function across all neuroglial cells. Understanding these associations is vital for effective clinical management.

Methods: We performed a retrospective analysis of patients with genetically confirmed MD who exhibited white matter abnormalities at a pediatric academic medical center.

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details of the third and fourth reported patients with biallelic variants in MYMX, the gene that encodes Myomixer. We identified a homozygous truncating variant [c.

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Background: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ-3).

Objectives: We aim to comprehensively investigate CA8-related disorders (CA8-RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular observations in a cohort of newly identified patients.

Methods: We analyzed the phenotype of 27 affected individuals from 14 families with biallelic CA8 variants (including data from 15 newly identified patients from eight families), ages 4 to 35 years.

Current understanding and future potential applications of cerebral microvascular imaging in infants.

Microvascular imaging is an advanced Doppler ultrasound technique that detects slow flow in microvessels by suppressing clutter signal and motion-related artifacts. The technique has been applied in several conditions to assess organ perfusion and lesion characteristics. In this pictorial review, we aim to describe current knowledge of the technique, particularly its diagnostic utility in the infant brain, and expand on the unexplored but promising clinical applications of microvascular imaging in the brain with case illustrations.

T2*-based MR imaging (gradient echo or susceptibility-weighted imaging) in midline and off-midline intracranial germ cell tumors: a pilot study.

Purpose: The role of T2*-based MR imaging in intracranial germ cell tumors (GCTs) has not been fully elucidated. The aim of this study was to evaluate the susceptibility-weighted imaging (SWI) or T2* gradient echo (GRE) features of germinomas and non-germinomatous germ cell tumors (NGGCTs) in midline and off-midline locations.

Methods: We retrospectively evaluated all consecutive pediatric patients referred to our institution between 2005 and 2016, for newly diagnosed, treatment-naïve intracranial GCT, who underwent MRI, including T2*-based MR imaging (T2* GRE sequences or SWI).

Added value of diffusion weighted imaging in pediatric central nervous system embryonal tumors surveillance.

Diffusion weighted imaging (DWI) has an established role in primary CNS embryonal tumor (ET) characterization; however, its diagnostic utility in detecting relapse has never been determined. We aimed to compare DWI and conventional MRI sensitivity in CNS ET recurrence detection, and to evaluate the DWI properties of contrast-enhancing radiation induced lesions (RIL). Fifty-six patients with CNS ET (25 with disease relapse, 6 with RIL and 25 with neither disease relapse nor RIL) were retrospectively evaluated with DWI, conventional MRI (including both T2/FLAIR and post-contrast images), or contrast-enhanced MR imaging (CE-MRI) alone.

Congenital Myoepithelial Carcinoma of Soft Tissue Associated With Cystic Myoepithelioma.

Myoepithelial neoplasms of soft tissue represent a heterogeneous group of lesions, encompassing both benign entities as myoepithelioma (ME) and highly aggressive tumors as myoepithelial carcinoma (MEC). We describe a case of pediatric soft tissue MEC with peculiar features that may lead to misdiagnosis: congenital onset and presence of a benign component with predominant cystic structure. Few cases of congenital MEC have been reported, but the coexistence of MEC with ME is even more rare, accounting for less than 1% of myoepithelial tumors.