[Convulsive seizure].
A formerly healthy 14-year old boy with difficulties at school was admitted after two generalized seizures. Blood samples taken in the emergency room revealed normal serum-values for glucose and magnesium, but low calcium and elevated phosphorus. First evaluations showed normal age-related psychophysical development, serum-PTH was elevated and serum-1,25(OH)2D was normal. A CT-scan disclosed symmetric intracerebral calcifications. Further investigations confirmed the diagnosis of pseudohypoparathyroidism type 1B. Adequate treatment with calcium and calcitriol normalized serum-calcium, phosphorus and serum-PTH. Interestingly, school performance improved, as did personal activity.
Möri
D
D
Medizinische Klinik, Regionalspital Langenthal.
Mullis
P
P
Streuli
R
R
D000293:Adolescent; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004562:Electrocardiography; D004829:Epilepsy, Generalized / Q000209:etiology*; D006801:Humans; D006996:Hypocalcemia / Q000150:complications / Q000175:diagnosis*; D008133:Long QT Syndrome / Q000209:etiology; D008297:Male; D011547:Pseudohypoparathyroidism / Q000150:complications / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed