Wilson's disease: the problem of delayed diagnosis.

The biochemical diagnosis of Wilson's disease in Iran

Diagnosis of Wilson's disease: an experience over three decades.

BACKGROUND Wilson's disease is a rare but treatable condition that often presents diagnostic dilemmas. These dilemmas have for the most part not been resolved by the identification and cloning of the Wilson's disease gene. AIMS To report our experience over three decades with patients with Wilson's disease in order to illustrate the diverse patterns of presentation and thereby broaden the app...

Hypoparathyroidism as a rare manifestation of Wilson,s disease: a case report

A 13 years old girl was admitted to the pediatric ward of hospital  No 1 of Kerman university of medical sciences because of crampy pains, pins and needles sensation of the extremities and history of an episode of seizure. Her problem started one week prior to admission with pain in the leg muscles, flexion of the fingers followed by seizure. On physical examination, the prominent finding inclu...

Delayed diagnosis of turner,s Syndrome:A problem in treatment of short stature

Average age at dianogsis,clinical features,and karyotype analysis of 40 girls with turner,s Syndrome (TS) were studied.the medical records of 40 girls with TS were reviewed for age at dianogsis.clinical features,karyotype analysis and erasons of admission in pediatric endocrinology ward.although lymphedema is the key to diagnosis in newborn period,none of the cases were diagnosed in infancy.the...

Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment

Copper is an essential trace element required by all living organisms. Excess amounts of copper, however, results in cellular damage. Disruptions to normal copper homeostasis are hallmarks of three genetic disorders: Menkes disease, occipital horn syndrome, and Wilson's disease. Menkes disease and occipital horn syndrome are characterized by copper deficiency. Typical features of Menkes disease...