JLE

Epileptic Disorders

MENU

Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation Volume 20, issue 6, December 2018

TEST YOURSELF

(1) What are the main typical clinical features of patients with PCDH19 mutation?

(2) What is the main differential diagnosis?

(3) What neurodevelopmental complications and comorbidities can occur in patients with a PCDH19-related epilepsy phenotype?

 

 

 

 

 

 

 

See answers

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Answers

(1)PCDH19-related epilepsy occurs mainly in females and presents as an unusual X-linked mode of inheritance, affecting only heterozygous females, whereas homozygous males are asymptomatic.

We can identify three main stages during the course of this epilepsy:

- the first (0-2 years) characterised by the recurrence of focal and/or generalised seizures in clusters in previously healthy girls;

- the second (2-10 years) is the appearance of fever sensitivity and the occurrence of focal to bilateral tonic-clonic seizures which are the main features and seizure frequency tends to decrease;

- during the third (the second decade of life), behavioural disturbances become the main issue with slight to moderate cognitive delay.

 

(2) The main differential diagnosis is Dravet syndrome because of the early onset and fever sensitivity.

Some of the main features that distinguish PCDH19-related epilepsy include: the late appearance of fever sensitivity, the recurrence of seizures in clusters; fewer episodes of status epilepticus that are not long-lasting and a less severe cognitive outcome; and the absence of motor impairment and ataxia.

 

(3) Cognitive deterioration seems to be milder and evolve more slowly in PCDH19-related epilepsy but, on the other hand, behavioural issues seem to be fairly important with a high rate of autism spectrum disorders.

Focal structural lesions represent a challenge since symptomatic epilepsy may be a differential diagnosis but also a comorbidity.

 

 

 

 Back to questions