Journal of Rare Disorders: Diagnosis & Therapy

A Rare Case of Acute Symptomatic Seizure, Tetany and Poor Sensorium Secondary to Autosomal Dominant Hypocalcemia and Hypercalciuria

Symptomatic seizures are due to varied etiologies. Genetic disorders causing seizures are well known. Described initially in 1993, Autosomal dominant hypocalcemia with hypercalciuria is a rare genetic disorder, secondary to defective calcium sensing receptor gene (CASR). Two types of mutations can occur in CASR gene which could be activating and inactivating. ADHH occurs due to the activating mutation of the gene. It results in hypocalcemia, hypercalciuria, hypomagnesemia which can manifest as tetany, seizures and worsening sensorium. Here we describe one such case where seizure was the initial presentation followed by tetanic spasms, decreased sensorium and bilateral basal ganglia calcifications in CT brain.

Author(s):

Thirunavukarasu S, Devi V, Usheva S,Arumugam D, Ramanujam A and Balamurugan N

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