Background: We present four patients who presented with seizures and their journey to diagnosis. All were managed for some time as epilepsy before the diagnosis of hypocalcaemia was made.
Objective and hypotheses: To confirm not all seizures are epileptiform.
Method: Case reports.
Results: Case 1. Seen at age 4 with seizures. EEG normal. Mild language delay. Seizures continued intermittently on anti-epilepsy medication and was seizure free until age 12, when had prolonged tonicclonic seizure. Calcium 1.37 at time of seizure, with inappropriately low PTH. Genetic analysis showed 22q deletion. Case 2. Presented age 2 with muscle cramps and afebrile seizure. No investigations done at first presentation. Had second seizure several months later and found to have low calcium and low PTH. Autoimmune hypoparathyroidism diagnosed. Subsequently developed Addisons disease age 6 and AIRE gene mutation confirmed. Case 3. A 12 year-old-boy presented with dystonic movements, muscle spasms, and parasthesiae. MRI showed extensive intracerebral calcification. Calcium not checked. Started on L-DOPA but as symptoms persisted, referred to tertiary neurology clinic at age 14. Calcium then checked; 1.24 with PTH of 223 (markedly elevated). Subsequent genetic testing showed pseudohypoparathyroidism type 1b. Case 4. A 9-year-old girl presented with numbness, tetanic episodes, and seizures. Older brother known to have Addisons disease. Difficult family circumstances and labelled as pseudoseizures. After 18 months, presented with prolonged seizure and calcium checked at that time; found to be low, with inappropriately low PTH. Also noted to have low sodium but not investigated further. Subsequently confirmed to have Addisons disease and AIRE gene deletion identified.
Conclusion: Seizures are common in childhood. NICE guidance has recommended since 2004 that all children presenting with a first afebrile seizure should have baseline investigations; two of these cases presented initially before this guidance was published but two others presented in 2008 and 2010 respectively. A baseline calcium level is mandatory in all children presenting with afebrile seizures and if low, must be investigated further.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology