panayiotopoulos syndrome

PANAYIOTOPOULOS SYNDROME

Jagadeesh, 3 year old male child, born to parents of non-consanguinous marriage.

Child was of normal development.

Known case of seizure disorder on anti-epileptic drug Oxcarbazepine was brought to casualty in unconscious state and child was managed as per protocol.

This child had an episode on dec 2014 was seen by a paediatric neurologist and investigated.

EEG done on Dec 2014- abnormal record suggesting bilateral dysfunction cortical in nature.

Child was started on AED Oxcarbazepine (10mg/kg).

Child was not responding to AED and continued to have similar 4 episodes.

Probing the details of the actual nature of the fit it was brought to light that the child has never had tonic clonic convulsions.

All the episodes were associated with vomiting, sweating and drooling of saliva and occurred during sleep.

There was no h/o incontinence of urine or faeces.

Other alternative diagnosis like syncope, non-convulsive status were thought of.

In consultation with neurologist, anticonvulsant was stopped.

Child was investigated further, EEG was done and showed abnormal record due to high voltage slow wave discharges.

ECHO and ECG were within normal limits. The child was normal during the stay in the hospital.

The features of unconsciousness not associated with any tonic

clonic convulsions associated with autonomic

features like sweating, vomiting, drooling

a diagnosis of Panayiotopoulos epilepsy or autonomic epilepsies was made.

Panayiotopoulos syndrome has been characterized as “early onset benign childhood occipital epilespy.”

INCIDENCE: Age of onset: 1-14 years of age.

(peak age – 3 to 6 years) Both sexes are equally affected. It is a rare condition

CLINICAL FEATURES:

Nausea and emesis are usually the heralding symptom.

Seizure occurrence is more common in sleep, especially the early part of sleep. Two-thirds of seizures begin in sleep.

Other autonomic symptoms may occur at seizure onset • flushing or cyanosis • pupillary changes • coughing• cardiorespiratory changes• thermoregulatory changes• fecal or urinary incontinence

A triad of nausea, retching and vomiting occurs in upto 74% of seizures.

Headaches and cephalic aura have been observed.

Ictal syncope is a described feature. In atleast 20% of seizures, child becomes unresponsive and flaccid prior to convulsions.

It is characterized by transient loss of responsiveness and postural tone.

10% of patients will have pure autonomic seizures – comprise autonomic symptoms only.

Impairment of consciousness may be mild to moderate.

Less common ictal symptoms speech arrest hemifacial spasm visual hallucinations oropharyngeal movements unilateral mouth droop eyelid jerks myoclonic jerks nystagmus, automatisms.

Nearly half of the seizures last for more than 30 minutes.

ETIOLOGY: It is genetic in origin.

PS can be observed in siblings.

A SCN1A gene mutation has been reported in few cases and this is speculated to represent cases with a more severe phenotype [7,19]

DIAGNOSTIC WORKUP:

Normal neurological examination

Normal MRI findings

In 90% EEG will demonstrate multi-focal, high amplitude, sharp and slow wave complexes.

Spikes may also be present and shift between hemispheres. Occipital spikes are frequent.

EEG should be acquired during sleep since interictal epileptiform activity is more prevalent in sleep.

TREATMENT:

Seizures typically remit with one to 2 years of onset.

Most patients will not require anti convulsant therapy.

Autonomic status epilepticus should be thoroughly evaluated to rule out other causes.

Frequent seizures require AED. Carbamazepine is recommended though newer drugs with focal-onset coverage have been used.

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