Friedreich's ataxia forme fruste and elevated creatine phosphokinase in a child with pseudohypoparathyroidism.
A 14-year-old boy with focal seizures, syncopal attacks, and progressive intellectual deterioration had intracranial calcifications on a CT scan and hypocalcemia unresponsive to parathyroid hormone. The commonly recognized neurological manifestations of pseudohypoparathyroidism were complicated by signs of Friedreich's ataxia. A marked elevation of serum CPK was unexplained and was unrelated to seizures.
D000293:Adolescent; D000469:Alkaline Phosphatase / Q000097:blood; D002118:Calcium / Q000627:therapeutic use; D003402:Creatine Kinase / Q000097:blood*; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000201:enzymology*; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008297:Male; D011547:Pseudohypoparathyroidism / Q000175:diagnosis / Q000201:enzymology*; D014057:Tomography, X-Ray Computed; D014807:Vitamin D / Q000627:therapeutic use
D014807:Vitamin D; D007770:L-Lactate Dehydrogenase; D003402:Creatine Kinase; D000469:Alkaline Phosphatase; D002118:Calcium