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

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

doi:10.21767/2380-7245.100172

Abstract

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.

Highlights

Symptomatic seizures are due to varied etiologies
Familial hypomagnesemia and hypocalcemia usually occurs in infancy and seizures are the clinical presentation
It is not associated with basal ganglia calcification and hypercalciuria which our patient had

Summary

Introduction

Symptomatic seizures are due to varied etiologies. Genetic disorders causing seizures are well known. A Rare Case of Acute Symptomatic Seizure, Introduction Tetany and Poor Sensorium Secondary to Autosomal Dominant Hypocalcemia and Symptomatic seizures contribute to 40 percent of all first time seizures [1]. Symptomatic seizure could be a rare initial presentation of uncommon and rare genetic disorders.

Results

Conclusion