CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited CACNA1A mutations, with median age of 2,5 years at epilepsy onset. Eight mutations were novel. Two variants known leading to gain of function (GOF) were found in 5 patients. Five other patients had non-sense variants leading to loss of function (LOF). Seizures were most often revealed by either status epilepticus (SE) (n = 8), eventually triggered by fever (n = 5), or absences/behavioural arrests (n = 7). Non-epileptic paroxysmal events were frequent and consisted in recurrent hemiplegic accesses (n = 9), jitteriness in the neonatal period (n = 6), and ocular paroxysmal events (n = 9). Most of the patients had early permanent cerebellar dysfunction (n = 16) and early moderate to severe global developmental delay (GDD)/intellectual deficiency (ID) (n = 17). MRI was often abnormal, with cerebellar (n = 8) and/or cerebral (n = 6) atrophy. Stroke-like occurred in 2 cases. Some antiepileptic drugs including topiramate, levetiracetam, lamotrigine and valproate were effective on seizures. Acetazolamide and calcium channel blockers were often effective when used. More than half of the patients had refractory epilepsy. CACNA1A mutation should be evoked in front of 2 main electro-clinical phenotypes that are associated with permanent cerebellar dysfunction and moderate to severe GDD/ID. The first one, found in all 5 patients with GOF variants, is characterized by intractable seizures, early and recurrent SE and hemiplegic accesses. The second, less severe, found in 5 patients with LOF variants, is characterized by refractory early onset absence seizures.

Imaging of shoulder arthroplasties and their complications: a pictorial review.

Currently, an increasing number of patients benefit from shoulder prosthesis implantation. Radiologists are therefore more often confronted with imaging examinations involving shoulder arthroplasty, whether during a dedicated examination or incidentally. Standard radiography is the first-line imaging modality in the follow-up of these implants, before the possible use of cross-sectional imaging modalities (computed tomography and magnetic resonance imaging), ultrasound, or nuclear medicine examinations. Shoulder arthroplasties are divided into three categories: reverse shoulder arthroplasty, total shoulder arthroplasty, and partial shoulder joint replacement (including humeral hemiarthroplasty and humeral head resurfacing arthroplasty). Each of these prostheses can present complications, either shared by all types of arthroplasty or specific to each. Infection, periprosthetic fractures, humeral component loosening, heterotopic ossification, implant failure, and nerve injury can affect all types of prostheses. Instability, scapular notching, and acromial fractures can be identified after reverse shoulder arthroplasty implantation. Glenoid component loosening and rotator cuff tear are specific complications of total shoulder arthroplasty. Progressive wear of the native glenoid is the only specific complication observed in partial shoulder joint replacement. Knowledge of different types of shoulder prostheses and their complications' radiological signs is crucial for the radiologist to initiate prompt and adequate management.