ABSTRACT
New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial infantile epilepsy (BFIE), a disease associating infantile convulsions and choreoathetosis (ICCA), a form of familial hemiplegic migraine (FHM type 4), paroxysmal benign torticollis of childhood, and episodic ataxia. We describe the case of an infant, carrying a mutation of the PRRT2 gene, with a classical presentation. Through her progression over time, we raise the question of systematic use of anti-epileptic drugs.
Subject(s)
Membrane Proteins/genetics , Nerve Tissue Proteins/genetics , Seizures/genetics , Female , Humans , Infant , Mutation , Seizures/drug therapyABSTRACT
Spondylodiscitis is defined as an infection of the intervertebral disc and the adjacent vertebral bodies. It represents, at the most, 2-4% of osteoarticular infections in children and its clinical presentation is often insidious. The specific condition of the young child (isolated discitis) is explained by some anatomical peculiarities. We report two cases of spondylodiscitis in children of different ages and review the pediatric characteristics, the role of imaging, the bacteriological diagnosis and the management of this disease.
