A Rare Compound Heterozygous Mutation of TRPM6 Gene in Hereditary Hypomagnesemia with Secondary Hypocalcemia: A Cause of Refractory Seizures in an Infant

A Rare Compound Heterozygous Mutation of TRPM6 Gene in Hereditary Hypomagnesemia with Secondary Hypocalcemia: A Cause of Refractory Seizures in an Infant

Background: Hypomagnesemia is an important cause of refractory hypocalcemic seizures. Among the causes of hypomagnesemia, genetic defects are rare. Clinical Description: A 20-month-old boy presented with a history of repeated hypocalcemic convulsions since 1 month of age. Besides seizures, the infan...

Full description

Bibliographic Details
Main Authors: Chandreyee Bhattacharya, Rajiv Sinha, Subrata Dey, Kaushik Maulik
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2024-08-01
Series:Indian Pediatrics Case Reports
Subjects:
child
intestinal hypomagnesemia
seizures
Online Access:https://journals.lww.com/10.4103/ipcares.ipcares_265_23

Internet

https://journals.lww.com/10.4103/ipcares.ipcares_265_23

Similar Items