A female neonate with DiGeorge syndrome develops severe muscle cramps and convulsions soon after bih. Which of the following is the cause of convulsions in this neonate?
Correct Answer: Hypocalcemia
Description: DiGeorge syndrome: - Caused by failure in development of 3rd and 4th branchial pouches, resulting in Agenesis/ hypoplasia of thymus & parathyroid glands Congenital hea defects Dysmorphic facies -Occurs secondary to deletions on chromosome 22q11.2 - As a result of parathyroid agenesis, patients with DiGeorge syndrome exhibit hypocalcemia, which manifests as increased neuromuscular excitability. - Symptoms range from mild tingling in hands & feet to severe muscle cramps & convulsions.
Category:
Pathology
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