Neurodegeneration is the umbrella term for the progressive loss of structure or function of neurons, including death of neurons. Many neurodegenerative diseases including Parkinson’s, Alzheimer’s, and Huntington’s occur as a result of neurodegenerative processes.Neurocutaneous syndrome – NF,VonHippelLindau,Sturgeweber,tuberoussclerosis,ataxiatelengiectasia
WHAT IS EPILEPSY? Epilepsy
is a chronic neurological condition characterized by recurrent, unprovoked seizures, occurrence of at least 2 unprovoked seizures 24 hours apart. Epileptic seizure → clinical manifestation of abnormal & excessive discharge of a set of neurons in the brain
ILAE 2010 CLASSIFICATION GENERALISED SEIZURES:-
(Discharge arises from both hemisphere) Absence seizures Myoclonic seizure Tonic Tonic clonic Atonic seizuresFOCAL – SEIZURES ARISE FROM ONE OR PART OF ONE HEMISPHEREFrontal seizuresTemporal lobe seizuresOccipital seizuresParietal lobe seizures
TONIC CLONIC SEIZURES Tonic phase
The tonic phase begins with flexion of the trunk and elevation and abduction of the elbows. Subsequent extension of the back and neck is followed by extension of arms and legs. Piercing cry may be present due to passage of air through closed vocal cords. Autonomic signs are common during this phase and include increase in pulse rate and blood pressure, profuse sweating This stage lasts for 10-20 seconds.
TONIC CLONIC SEIZURESClonic phase tremor
occurs at a rate of 8 tremors per second, which may slow down to about 4 tremors per second. This is because phases of atonia alternate with repeated violent flexor spasms. Each spasm is accompanied by pupillary contraction and dilation. Some patients may have tongue or cheek bites. The atonic period lasts about 30 sec. The clonic phase lasts for 30 sec. to 1minute.
ABSENCE SEIZURES Patient stares briefly
and stop talking or ceases to respond. Most of the patient are completely motionless while some feel some myoclonic movements in eye lids,facial muscles,fingers at a rate of 3 per sec..and this rate corresponds to the abnormality in EEG as generalized 3 per sec.spike & wave pattern. Occurs at the age of 4-12 years Prognosis is good.95% remission in adolescense
MYOCLONIC SEIZURES These are brisque,brief
muscular contractions some of them involve only single muscle or a part of the muscle & some of them are so large that they include whole body or both the limbs.Myoclonic jerks are common in the morning involving entire body both the limbs and sometimes absence seizures are common. This is the most common form of idiopathic gen.epilepsy in childhood.it begins at adolescence (15 yr). 4 to 6 Hz irregular spikes have been noted in EEG.
PARTIAL SEIZURE - FOCAL SEIZURE
Begin in a relatively small group of dysfunctional neurones in one of the cerebral hemispheres. Mayb e heralded by an aura which reflects the site of the origin May or may not be associated with change in consciousness or more generalised motor jerking.
Frontal seizures Temporal lobe seizure•
Involve the motor • Most common cortex • Strange warning• May lead to clonic feeling/ aura with movements → travel smell , taste proximally→ abnormalities & (Jacksonian March) distortion of sound &• Asymmetrical tonic shape seizures → bizarre • Automatism → spread ,hyperkinetic & easily to the premotor cortex dismissed as non – • Deja-vu & Jamais-vu epileptic events • Consiousness may be impaired, length of event is longer than a typical absence
SPECIAL EPILEPSY SYNDROME1.INFANTILE SPASM:- -Most
cases appears in 1st yr of life. - Single brief recurrent gross flexion movements of the limb …rarely extension movements -EEG shows multifocal,multiple small spikes. -On maturity it disappears(4 to 5yr) -CT & MRI mostly normal. -Later progress to LENOX GASTAUT SYND.
HISTORY TAKING HOPI:- Two unprovoked
seizures >24 hr apart suggest the presence of an epileptic disorder Any aura?change in the behaviour? Types of seizures -tonic clonic(tensing,then shaking,LOC) -atonic(drop attack) -absence(jus staring,not responding,blinking) -partial(maybe consciouss,only ½ limbs shaking/jerking How long did it last?frequency?time of day?precipatating factor? Any loss of consciousness?tongue bitting? What did you do for the child?(appropriate first aid measures) Post ictal:drowsy?sleeping?vomiting?
PERINATAL HISTORY Infection during
pregnancy?TORCH Birth history - birth asphyxia , birth trauma Neonatal jaundice POST NATAL HISTORY Central nervous system (CNS) infection e.g. meningitis, encephalitis etc. Head injury Lead contact (lead fumes from burning batteries, pica)
PAST HISTORY Age at 1st
seizure?describe seizure? h/o febrile seizures When and how diagnosed?any event preceding seizure? DRUG HISTORY1. Anticonvulsant medications2. How many?3. Any increase in dosage?types?4. Compliance,how often dose missed?what to do if missed?5. Side effect?6. Responding current medication or not
Outpatient review1. Frequency2. Test
done3. Other investigations(eg.EEG to date) Hospitalization1. How many?reasons? Any identified medical problems associated with seizures?1. Any history of trauma,meningitis?encephalitis?2. How are this problem managed? FAMILY HISTORY1. Of convulsion?inborn error metabolism?
SOCIAL HISTORY:- Impact on
child:1. Schooling2. Athletic participation?3. Self esteem4. Does teacher know about the condition?5. On family:financial burden CONTINGENCY PLAN:1. What to do in the event of a seizure?
DIAGNOSIS The clinical diagnosis is
more important then any tool… (H/O, Eye witnesses, substantiated by video if available)# EEG:- EEG is most sensitive tool for diagnosis which shows electrical activity changes in the brain but it also require clinical correlation Many children with epilepsy may have normal EEG and many children who will never have epilepsy have EEG abnormalities Done for dx, classification, selection of anti-epileptic drugs and prognosis
MRI and CT-not required routinely
for childhood generalized epilepsy. To identify a tumour,vascular lesion or area of sclerosis.PET and SPECT. To detect areas of hypometabolism in epileptogenic lesions OTHER INVESTIGATIONS Blood test and metabolic investigations(seizures related to feed and fasting). Genetic studies Lumbar puncture
PRINCIPLES OF ANTICONVULSANT THERAPY Treatment
recommended if ≥ 2 episodes→ recurrence risk 80% Attempt to classify the seizure type & epileptic syndrome Monotherapy as far as possible → most appropriate drug → increase dose gradually till epilepsy controlled, maximum dose reached / side effects occur Alternative monotherapy (Add on the 2nd drug if 1st drug failed. Optimise 2nd drug, then try to withdraw 1st drug. Rational combination therapy (usually 2 or maximum 3 drugs ) Combines drugs with different mechanism of action & consider their spectrum of efficacy, drug interactions & adverse affects.
Monitor drug levels (carbamazepine,
phenytoin, phenobarbitone) to check compliance → if seizures not well controlled/in situations of polypharmacy where drug interaction is suspected. When withdrawal of medication is planned → seizure free for 2 years, consideration should be given to epilepsy syndrome, likely prognosis & individual circumstances before attempting slow withdrawal of medication over 3-6 months (longer if clonazepam/ phenobarbitone) If seizures recur → last dose reduction is reversed & medical advice sought
INTRACTABLE EPILEPSY? Re- evaluate the
following possibilities Is it a seizure /non epileptic event Anticonvulsant dose not optimized Poor compliance to anticonvulsant Wrong classification of epilepsy syndrome → wrong anticonvulsant Anticonvulsant aggravating seizures Lesional epilepsy, hence a potential epilepsy surgery candidate Progressive epilepsy or neurodegenerative disorder
REFERRAL TO PAEDIATRIC NEUROLOGIST Poor
seizure control despite monotherapy with 2 different anticonvulsants Difficult to control seizures beginning in the 1st year of life Seizures & developmental regression Structural lesion on neuroimaging
ADVICE FOR PATIENTS Educate and
counsel on epilepsy. Emphasize compliance if on anticonvulsant. Don’t stop the medication by themselves.this may precipitate breakthrough seizures. In photosensitive seizures-watch tv in brightly lit room.avoid sleep deprivation. Use a shower with bathroom door unlocked No cycling in traffic,climbing sports or swimming alone. Know emergency treatment for seizure Inform teachers and school abt the condition.
SIDE EFFECTS AND SERIOUS TOXICITIESOF
ANTICONVULSANT CARBAMAZEPINE—drowsiness,dizziness,ataxia,diplopia,rash (serious toxicity—agranulocytosis Steven Johnson syndrome) CLONAZEPAM---- hypotonia,salivary and bronchiol hypersecretion,paradoxical hyperactivity,aggresiveness PHENYTOIN--- ataxia,diplopia,rash,gum hypertrophy,hirsutism (serious toxicity—megaloblastic anemia)
CAUSES OF SE1)Prolonged febrile seizures
Lasting for >30mins Particularly in child younger than 3 years old Associated with severe damage to the hippocampus in children(Hippocampus sclerosis) Most common cause of SE May be the initial manifestation of encephalitis, and epilepsy may be a long term complication of meningitis
CAUSES OF SE2)Idiopathic status epilepticus
Includes epilepticus patients in whom SE followed sudden withdrawal of anticonvulsants(esp. benzodiazepines and barbiturates) Given anticonvulsants on an irregular basis or who are noncompliant are more likely to develop SE
MECHANISM OF SE Inreased cerebral
metabolic rate Increased in cerebral flow (half an hour) Inadequate oxygen tension and togetther with other factors lead to Neuronal injury STATUS EPILEPTICUS
MANAGEMENT OF STATUS EPILEPTICUS Securing
airway ,breathing and circulation(with continuous monitoring of vital signs ,ECG) Determination and management of the underlying etiology(eg.hypoglycemia) Laboratory studies(glucose,sodium,Ca) Blood and spinal culture,toxic screens test for inborn error of metabolism Antiepilectic drugs level EEG(ruling out pseudostatus epilepticus)
SUMMARY affects 1 in 200
children Is classified as generalised or focal(partial) or an epilepsy syndrome of childhood If suspected EEG is indicated Most but not all requires antiepileptic drug therapy,which should be appropriate for the seizure,compromise as few drugs and with the least potential for unwanted effects as possible Requires liaison with the school about the management of seizures and avoiding situations ehich could lead to injury.