[Epilepsy in children with congenital hemiparesis secondary to perinatal ictus].

The objective was to describe the frequency, mode of presentation and characteristics of epilepsy in children with congenital hemiparesis (CH). It is a etrospective, descriptive and multicenter study, based on the collection of data from the clinical records of patients from 0 to 19 years with CH secondary to perinatal infarction in different centers of the community of Catalonia. A total of 310 children were included (55% males and 45% females), from a total of 13 centers in Catalonia.

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

Background: Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. Ataxia with oculomotor apraxia type 1 is caused by bi-allelic mutations in APTX (chromosome 9p21.1).

EEG extreme delta brush: An ictal pattern in patients with anti-NMDA receptor encephalitis.

Introduction: The anti-NMDA receptor (NMDAr) encephalitis-associated syndrome includes neuropsychiatric symptoms, impaired consciousness, seizures, autonomic instability, and hypoventilation. The electroencephalographic (EEG) activity throughout the course of the disease has still not been well documented. We reviewed electroclinical data of patients with NMDAr encephalitis to characterize their EEG and its clinical correlation.

Fetal MR in the evaluation of pulmonary and digestive system pathology.

Background: Prenatal awareness of an anomaly ensures better management of the pregnant patient, enables medical teams and parents to prepare for the delivery, and is very useful for making decisions about postnatal treatment. Congenital malformations of the thorax, abdomen, and gastrointestinal tract are common. As various organs can be affected, accurate location and morphological characterization are important for accurate diagnosis.