Wilson's disease is a rare but treatable condition with variable clinical presentations. Its diagnosis depends on a combination of clinical and laboratory findings. We evaluated the clinical and laboratory findings in children with Wilson's disease (WD). Twenty -seven children (4-14 years, 59.2 % male, 40.7% female) with confirmed WD were evaluated between 1994 and 2003 at Imam Khomeini Hos...

PURPOSE The purpose of the study is to present anterior segment optical coherence tomography (AS-OCT) as an alternative method of evaluating Kayser-Fleischer (KF) ring in Wilson disease (WD) not only by ophthalmologists but also by other clinicians dealing with WD. MATERIALS AND METHODS This was a retrospective case series of six WD patients with KF ring. Evaluation of KF ring was done by nak...

Purpose We aimed to present the ophthalmic manifestations of neuro-metabolic disorders. Methods Patients who were diagnosed with neuro-metabolic disorders in the Neurology Department of Mofid Pediatric Hospital in Tehran, Iran, between 2004 and 2014 were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled ...

(online suppl. video, www.karger.com/ doi/10.1159/000102169). Sensory examination showed hypesthesia of the right hand, most likely corresponding to segments C7 and C8. The muscle tone was normal at rest. The deep tendon reflexes in both extremities were symmetric and normoactive. Slit-lamp examination excluded Kayser-Fleischer rings. An initial MRI scan of the brain and cervical spine showed f...

We present a patient with chronic postmenopausal estrogen intake with presence of Kayser-Fleischer ring in the cornea and Alzheimer's disease and discuss the pathophysiological mechanisms of estrogen intake and copper accumulation in various tissues, including the central nervous system. Sonography was compatible with copper accumulation in the basal ganglia, but the patient showed no clinical ...

Wilson disease (WD) is one of the few curable movement disorders that manifests with varied presentations so that WD needs to be considered in any patient with a movement disorder under the age of 50 years. Although WD is one of the causes of myoclonus, it is rarely seen in WD and usually as an associated finding. We report a case of an adolescent female patient of WD who presented with cortica...