Phenotypical variation with same genetic mutation in familial hypokalemic periodic paralysis
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چکیده
منابع مشابه
Cardiac dysfunction in a patient with familial hypokalemic periodic paralysis.
A 19-year-old white man with familial hypokalemic periodic paralysis developed evidence of cardiac dysfunction during a episode of flaccid paralysis. This consisted of elevated total creatine phosphokinase (CPK), an increased myocardial fraction of CPK (myocardial band), alteration in the lactic dehydrogenase isoenzyme pattern, severe bradycardia, and evidence of left ventricular dysfunction. T...
متن کاملPrimary hypokalemic periodic paralysis.
Primary hypokalemic periodic paralysis (PHPP) is a rare entity first described by Shakanowitch in 1882. Only a few cases of PHPP have been reported in Indian literature in adults(l). In children hypokalemic paralysis secondary to gastroenteritis and chronic renal disease is much more common than primary disease(2). We hereby report a case of PHPP in a child, successfully managed with acetazolam...
متن کاملHyperthyroid hypokalemic periodic paralysis
Hyperthyroid periodic paralysis (HPP) is a rare life threatening complication of hyperthyroidism commonly occurring in young Asian males but sporadically found in other races. It is characterised by hypokalemia and acute onset paraparesis with prevalence of one in one hundred thousand (1 in 100000). The symptoms resolve promptly with potassium supplementation. Nonselective beta blockers like pr...
متن کاملRhabdomyolysis following severe hypokalemia caused by familial hypokalemic periodic paralysis
Rhabdomyolysis continues to appear with increasing frequency and represents a medical emergency requiring rapid appropriate treatment. One of the unusual causes of nontraumatic rhabdomyolysis is hypokalemic periodic paralysis without secondary causes. Primary hypokalemic periodic paralysis is a rare genetic disease characterized by episodic attacks of muscle weakness due to decreases in serum p...
متن کاملAnesthetic management of familial hypokalemic periodic paralysis during parturition.
An 18-yr-old nulliparous woman with a previous diagnosis of FHPP presented for routine obstetric care at 12 wk gestation. She had a positive insulin-glucose provocative test with subsequent genetic analysis revealing the classic FHPP mutation. She reported that several relatives had FHPP, including a history of ventricular arrhythmias coincident with paralytic episodes. Our patient reported ons...
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurosciences
سال: 2018
ISSN: 1817-1745
DOI: 10.4103/jpn.jpn_44_17