We present data on the known risk factors encountered in children presenting with a first
arterial ischemic stroke to a single tertiary center over 22 years. Two hundred twelve patients …

A patient is described who has features of Pearson syndrome and who presented in the
neonatal period with a hypoplastic anemia. He later developed hepatic, renal, and exocrine …

Background: ARX is a paired-type homeobox gene located on the X chromosome that
contains five exons with four polyalanine (PolyA) tracts, a homeodomain, and a conserved C …

Objective To comprehensively describe the natural history of vanishing white matter (VWM),
aiming at improving counseling of patients/families and providing natural history data for …

Neurological deterioration during an episode of diabetic ketoacidosis is usually assumed to
be caused by cerebral oedema. We present a case of cerebral venous sinus thrombosis …

The purpose of this study is to quantify the prevalence of pseudotumors in patients with well-
functioning and painful metal-on-metal total hip arthroplasty, to characterize the …

OBJECTIVE To investigate the prevalence of currently recognised inherited prothrombotic
states in a population of children with arterial stroke. METHODS Children with arterial stroke …

PURPOSE To explore parents' opinions and concerns about seizures, anticonvulsants, and
the effect of treatment in children with Angelman syndrome. DESIGN A postal questionnaire …

Background: Early onset idiopathic generalised dystonia is a progressive and profoundly
disabling condition. Medical treatment may ameliorate symptoms. However, many children …

Fazio-Londe disease is a label sometimes applied to a degenerative disease of the motor
neurons characterized by progressive bulbar paralysis in children. It is very rare with only 22 …