A Rare Etiology of Hypocalcemic Seizures in Adulthood: Clues to Diagnosis from Facial Dysmorphism

We report a 40-year-old male who presented with seizures due to hypocalcemia. Biochemical evaluation revealed the diagnosis of hypoparathyroidism. The symptom complex of dysmorphic facies and intellectual disability along with hypoparathyroidism led to a suspicion of 22q11.2 microdeletion syndrome (22q11.2DS), which was confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis showing 22q11.2.21 microdeletion.
Source: Neurology India - Category: Neurology Authors: Source Type: research