JLE

Epileptic Disorders

MENU

Intractable apnoeic seizures in a child with a deletion typically associated with Williams syndrome Volume 20, issue 6, December 2018

TEST YOURSELF

(1) What is a brief resolved unexplained event (BRUE) or apparent life-threatening event (ALTE)?

(2) What is the deletion typically associated with Williams syndrome?

(3) What investigations should be ordered in cases of unexplained apnoea in a child with Williams syndrome?

 

 

 

 

 

 

See answers

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Answers

(1) BRUE is a sudden, brief, and resolved event that includes at least one of the following criteria: (1) cyanosis or pallor, (2) absent, decreased or irregular breathing, (3) hypo or hypertonia, (4) an altered level of responsiveness.

(2) A hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes.

(3) Prolonged video-EEG to capture these events.

 

 

 

 Back to questions