Spinal cord stroke (SCS) is an underrecognized cause of severe acute myelopathy in children that can be misdiagnosed as an infectious or inflammatory process. Limited characterization of clinical and neuroimaging features of pediatric SCS impede timely and accurate diagnoses. Our objectives were to…
Downbeat nystagmus: a practical approach based on a clinical case.
Spontaneous downbeat nystagmus (DBN) is the most common form of acquired nystagmus, characterized by a slow upward ocular drift and a corrective downward quick phase. The pathophysiology involves a final common pathway leading to decreased inhibition of the superior vestibular nucleus, often seconda…
Endocrine manifestations of Luscan-Lumish syndrome associated with a novel SETD2 frameshift variant.
Luscan-Lumish syndrome is a rare autosomal-dominant disorder caused by pathogenic SET domain-containing protein 2 (SETD2) variants, classically associated with postnatal overgrowth, obesity, developmental delay, seizures, and Chiari I malformation; endocrine manifestations remain poorly characterize…
Morphological subtypes of Chiari malformation type I and clinical outcomes after posterior fossa decompression.
Chiari malformation type I (CM-I) is the most common structural hindbrain defect in humans and causes debilitating headaches and other neurological symptoms frequently requiring surgery. Although patients' brains have heterogeneous shapes, diagnosis is based on a single radiographic measure with onl…
Clinical and MRI morphometric characterization of symptomatic cerebellar tonsillar ectopia.
Cerebellar tonsils normally extend up to 5 mm below the foramen magnum (FM). Some individuals with tonsillar ectopia (TE) measuring under 5 mm may present with symptoms of Chiari type 1 malformation (CM1). We analyzed MRI data of the posterior cranial fossa (PCF) in affected patients to as…
Multiparametric Ultrasound in Budd-Chiari Syndrome: From Venous Outflow Obstruction to Microcirculatory Dysfunction.
Budd-Chiari syndrome (BCS) is a rare and potentially severe disorder of hepatic venous outflow with a heterogeneous anatomical and etiological spectrum. Obstruction may range from focal or segmental involvement of a single hepatic vein to multifocal hepatic venous disease with inferior vena cava (IV…