McArdle's disease presenting as recurrent cryptogenic renal failure due to occult seizures.
Myophosphorylase deficiency (McArdle's disease) may present with episodic renal failure following exertion. We present a case of adult-onset myophosphorylase deficiency in which recurrent bouts of renal failure could not be associated with any exertional events until a tonic seizure was witnessed after the fourth episode of renal failure. In the absence of a clear exertional cause for myoglobinuria, an occult seizure disorder should be suspected.
Department of Neurology, University of Utah, Salt Lake City, Utah 84112, USA.
Adrianne R
AR
Walker
Kevin
K
Tschetter
Fumisuke
F
Matsuo
Kevin M
KM
Flanigan
D058186:Acute Kidney Injury / Q000175:diagnosis* / Q000209:etiology; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis*; D006801:Humans; D012640:Seizures / Q000150:complications / Q000175:diagnosis*