Enlarging the clinical spectrum of SAVI syndrome

Enlarging the clinical spectrum of SAVI syndrome

Results The girl, first born from healthy, not relatives parents, at the age of 8 months started to present erythematosusinfiltrated skin lesions with pustular evolution and finally hesitating in scars in 15-20 days. From the age of three years chilblains and severe nail dystrophy appeared. A CT scan performed at the age of 8 years revealed the presence of diffuse interstitial thickening with g...

Atretic parietal cephaloceles revisited: an enlarging clinical and imaging spectrum?

PURPOSE We describe imaging features that are clues to the diagnosis of atretic cephaloceles and discuss clinical findings and a possible mechanism by which these lesions develop. METHODS Eight children (five girls and three boys) ranging in age from 1 day to 3 years 4 months with midline subscalp lesions underwent radiologic examination with CT or MR imaging. In all cases, the lesions were s...

The enlarging spectrum of focal cortical dysplasias.

Focal malformations of cortical development, including focal cortical dysplasia (FCD), are among the most common causes of intractable epilepsy in children. In this issue of Brain, Jansen and colleagues provide evidence that hemimegalencephaly (HMEG) and FCD type IIa result from mosaic mutations in components of the PI3K/Akt/ mTOR (mammalian target of rapamycin) pathway, i.e. PI3KCA, AKT3, or P...

Enlarging Spectrum of Prion-like Diseases

Deposition of proteins of aberrant conformation is the hallmark of many neurodegenerative diseases. Misfolding of the normally globular mutant superoxide dismutase-1 (SOD1) is a central, early, but poorly understood event in the pathogenic cascade leading to familial forms of ALS. “In many neurodegenerative diseases, such as Alzheimer’s disease, Parkinson disease, prion disorders, ALS, and poly...

Clinical Spectrum of PRKAG2 Syndrome.