Unverricht-Lundborg disease (ULD) is an autosomal recessive progressive myoclonic epilepsy. The prevalence is highest in specific European countries and North Africa. Affected individuals have myoclon
Introduction: Arterial Tortuosity Syndrome (ATS) is a rare congenital disorder characterized by elongation and tortuosity of the aorta and mid-sized arteries. Additional features typical of connective
ABSTRACT A 43-year-old male with a history of eosinophilic angiocentric fibrosis presented with headache and double vision since 48 h. Idiopathic hypertrophic pachymeningitis was diagnosed based on nu
Abstract Introduction: the Aicardi syndrome (SA) is characterized as a rare syndrome identified in the presence of three classic characteristics: corpus callosum agenesis, chorioretinal lacunaeand inf
Introduction: Classic galactosemia is a disorder of the galactose metabolism and is inherited as an autosomal recessive disease. It is caused by a complete or severe deficiency of galactose-1-phosphat
