Wilson's disease presenting with hypokalemia, hypoparathyroidism and renal failure.
نویسندگان
چکیده
Wilson's disease (WD) is not as rare as once believed, and has a wide range of presentations with equally wide range of age of onset. Sometimes the primary presentation might be unusual and may require a thorough investigation to avoid a misdiagnosis. Our case presented with uncontrolled seizures, severe hypokalemia, renal failure, and hypoparathyroidism. After being diagnosed as WD and treated for the same patient made a remarkable recovery.
منابع مشابه
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...
متن کاملGlutaric Aciduri Type II, with Rhabdomyolysis and Acute Renal Failure Presentation in 10 Years Old Girl
Introduction: Myopathy and rhabdomyolysis are not common in children and, if not detected and do not treated it will be associated with high mortality and morbidity rate. The causes of rhabdomyolysis include hypokalemia, trauma, viral myositis, poisoning, rheumatoid diseases, and metabolic myopathies. Rhabdomyolysis treatment includes rapid supportive care and treatment of the underlying dise...
متن کاملراشیتیسم مقاوم به درمان به عنوان اولین تظاهر بیماری ویلسون (یک مورد نادر)
Rickets by definition is a condition in which the bone mineralization is defective. Among the large cause of Rickets (Vitamin D deficiency, gastrointestinal disorders, acidosis, renal tubular abnormalities...), Wilson's disease is a relatively rare cause. There are few cases of Wilson's disease presenting first as rickets in the literature. Here we present an Afghan girl with Wilson's disea...
متن کاملMicrocephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome
Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...
متن کاملMitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease.
A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 60 شماره
صفحات -
تاریخ انتشار 2012