Calcium-sensing receptor gain-of-function mutations are known to cause autosomal dominant hypocalcemia and independently an epilepsy syndrome. We report the unique case of a child with both intractable generalized epilepsy and a chronic abnormality in calcium homeostasis due to a calcium-sensing receptor gene mutation. She is a 16-year-old female who began having staring events around 3 years of age. After her first generalized convulsion at age 5 years, investigations revealed hypocalcemia, hypercalciuria, and central nervous system calcifications. Her electroencephalogram demonstrated generalized epileptiform discharges, a hyperventilation-induced electroclinical seizure, and a photoconvulsive response. She has since been diagnosed with intellectual impairment, behavior disorder, and intractable childhood-onset seizures, the latter of which include eyelid myoclonia with absences. We conclude that calcium-sensing receptor gain-of-function mutations may precipitate an intractable generalized epilepsy syndrome with a comorbid endocrinopathy and that further investigations should be pursued in children with seizures presumed to be provoked by hypocalcemia.
A Family of Autosomal Dominant Hypocalcemia with a Positive Correlation between Serum Calcium and Magnesium: Identification of a Novel Gain of Function Mutation (Ser820Phe) in the Calcium-Sensing Receptor
