Paediatrics Flashcards
Is there any evidence for a ketogenic diet?
The ketogenic diet has been reported to be effective in refractory cases of epilepsy in childhood, even when multiple antiepileptic trials have failed. It is typically initiated in the hospital by starvation for 1 to 2 days in order to induce ketosis. This is followed by a strict diet in which 80% to 90% of calories are derived from fat.
What is the best treatment option for simple febrile seizures? What is the risk of developing epilepsy?
Supportive care is the general recommendation for the management of a simple febrile seizure (FS). It is estimated that about 3% to 5% of children aged 5 months to 5 years have simple FS. Ninety percent of these events occur in the first 3 years of life. One-third of patients have at least one additional seizure. Risk factors for having a simple FS include family history of FS, prolonged neonatal intensive care unit stay, developmental delay, and day care. There is a <5% risk that patients with a simple FS will develop epilepsy.
What is the definition of a simple febrile seizure?
Simple FSs are characterized by the following: <15 minutes in duration, generalized seizure, lack of focality, normal neurologic examination, no persistent deficits, and negative family history for seizures.
What defines a complex febrile seizure?
Complex FSs occur in approximately 20% of FSs and are characterized by the following: >15 minutes in duration, focal features, abnormal neurologic examination, seizure recurrence in <24 hours, and postictal signs (Todd’s paralysis), and are more likely to be due to meningitis, encephalitis, or an underlying seizure disorder.
What is GENFS+. What gene is most commonly associated with generalized epilepsy with febrile seizures plus (GEFS+)
GEFS+ is a familial syndrome. defined as FSs continuing beyond the defined upper age limit (5). 1/3 have other seizure types as well. most frequently reported mutation is SCN1A (codes pore forming alpha subunit of the sodium channel and comprises 4 transmembrane domains
What is Rasmussen’s syndrome? What is the characteristic imaging findings?
Rasmussen’s syndrome is a rare, but severe, inflammatory brain disorder characterized by progressive unilateral hemispheric atrophy, associated progressive neurologic dysfunction (hemiparesis and cognitive deterioration), and intractable focal seizures (epilepsia partialis continua). Imaging reveals slowly progressive development of focal cortical atrophy, which correlates to the clinical findings. It has been postulated that antibodies to glutamate receptor-3 (GLUR3) may play a pathogenic role, although the available data are conflicting and the specificity of GLUR3 antibodies in the pathogenesis of Rasmussen’s encephalitis has been challenged. the best treatment option for the patient’s intractable seizures is the surgical approach with hemispherectomy.
What does the finding of porencephaly on MRI suggest?
Generally associated with ischaemic insult in utero
What are the causes of Progressive myoclonic epilepsies? What is first line treatment?
Most progressive myoclonic epilepsies (PMEs) are due to either lysosomal storage disorders and/or mitochondrial disorders. They are characterized by progressive cognitive decline, myoclonus (epileptic and nonepileptic), and seizures (tonic–clonic, tonic, and myoclonic), and may be associated with ataxia or movement disorders. Examples include Lafora body disease, Unverricht– Lundborg syndrome, neuronal ceroid lipofuscinosis, myoclonic epilepsy with ragged red fibers (MERRF), and sialidosis. Valproic acid is often the first-line treatment of myoclonic epilepsy. Caution is advised with use of valproic acid in patients with mitochondrial mutations, such as POLG gene mutations, because fulminant hepatic failure may result. Other treatments include clonazepam, levetiracetam, topiramate, and zonisamide. Lamotrigine is sometimes used, but caution is advised because it rarely may worsen myoclonic seizures. Gabapentin, carbamazepine, pregabalin, and vigabatrin are also known to exacerbate some myoclonic epilepsies.
Which drugs exacerbate absence seizures?
Phenytoin, carbamazepine, gabapentin, and lamotrigine have all been associated with aggravation of absence seizures and even absence status epilepticus in children with absence epilepsy.
What is benign rolandic epilepsy of childhood? What is the EEG? What is the treatment?
Benign childhood epilepsy with centrotemporal spikes (benign rolandic epilepsy of childhood) is fairly common and accounts for about 25% of childhood seizures. Onset is usually between 2 and 13 years of age, and the condition typically resolves in the mid- teenage years. Seizures are characterized by focal motor, sensory, or autonomic manifestations involving predominantly the face, mouth, throat, or extremities, although secondary generalization can occur. These are seizures that classically occur nocturnally (70% only in sleep, 15% only awake, and 15% both). The EEG is characterized by the presence of independent bilateral, repetitive, broad, centrotemporal interictal EEG spikes on a normal background. The discharges are thought to arise from the vicinity of the precentral and postcentral gyri in the lower suprasylvian region. The characteristic EEG spike pattern is inherited as an autosomal dominant trait with variable penetrance. Normal development, physical examination, and brain imaging are the rule, though there are exceptions. Seizures respond well to certain antiepileptic medication and carbamazepine is usually considered the first line of therapy in the United States. It is important to note that it is often not necessary to treat with AEDs unless seizures are prolonged or frequent; some advocate waiting for two or more seizures to occur before initiating treatment. If antiepileptic medications are started, they can generally be stopped after adolescence. (Only 10% continue to have seizures 5 years after onset.)
What are is West syndrome?
Infantile spasms occur during the first year of life (typically 3 to 8 months) and are discussed further in question 45. They are characterized by sudden tonic extension or flexion of limbs and axial body, often occurring in clusters, and especially shortly after awakening. West’s syndrome is a triad of infantile spasms, hypsarrhythmia, and psychomotor arrest or regression. This disorder often occurs because of pre/peri/postnatal insults, tuberous sclerosis, cerebral dysgenesis, and others. Treatment with ACTH is generally first line. Other treatments include corticosteroids, vigabatrin, clonazepam, levetiracetam, topiramate, pyridoxine, and valproic acid. Vigabatrin has been associated with retinal toxicity.
What is Aicardi’s syndrome?
This patient has Aicardi’s syndrome, which is a rare genetic disorder, usually associated with an X-linked dominant pattern of inheritance. Aicardi’s syndrome is characterized by the presence of infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum. Being an X-linked dominant disorder, it is encountered predominantly in girls, as the mutation is lethal in males. This syndrome is associated with various nonspecific ocular malformations, such as cataracts, microphthalmia, retinal detachment, and hypoplastic papilla. The presence of chorioretinal lacunae is pathognomonic for this syndrome. The EEG shows multiple epileptiform abnormalities, such as burst suppression pattern with asynchrony between the two hemispheres and a disorganized background.
What is doose syndrome?
This patient has Doose’s syndrome or myoclonic–astatic epilepsy. Typical onset is between 1 and 5 years of age. Children are normal prior to the onset of seizures, and many continue to have normal cognitive development. Seizures are predominantly generalized with myoclonic or astatic components, in which the patient loses postural tone and falls, sometimes resulting in injuries. There may be other seizure types, such as absence, GTC, and tonic seizures, and/or nonconvulsive status epilepticus. The EEG demonstrates interictal bilateral synchronous irregular 2- to 3-Hz spike and wave complexes along with parietal rhythmic θ-activity. Myoclonic seizures are associated with irregular spikes and polyspikes. There may be a genetic predisposition, and a family history of epilepsy or abnormal EEGs is frequent.
Although many patients remain normal, some have severe developmental delay and intractable seizures, and the prognosis may be variable. Valproic acid is commonly prescribed. Ethosuximide may help with absence seizures. Levetiracetam and ketogenic diet have also been reported to be beneficial in some cases.
What is Dravet’s syndrome?
This patient has Dravet’s syndrome or severe myoclonic epilepsy of infancy. This is a severe epilepsy syndrome, in which the patient has frequent seizures and various seizure types. The typical initial presentation is a febrile seizure (FS) in the first year of life; later, these patients develop other seizure types, including myoclonias, atypical absences, and tonic and tonic–clonic seizures, which could be generalized and/or unilateral. Given the initial presentation with an FS, the diagnosis may be delayed. Males are more affected than females, and there may be a family history of epilepsy or abnormal EEGs. In fact, Dravet’s syndrome may lie at the most severe end of the spectrum of generalized epilepsy with febrile seizures plus (GEFS+) and may commonly be associated with a mutation in the sodium channel gene SCN1A. The EEG may be normal initially in the interictal period, later showing generalized spike–wave complexes as well as focal and multifocal spikes. Developmental delay is the rule and neurologic abnormalities are common. The prognosis is poor, seizures are difficult to control, and there is sensitivity to hyperthermia. Treatment options include valproic acid, topiramate, zonisamide, and ketogenic diet. Importantly, treatment with phenobarbital, phenytoin, carbamazepine, and lamotrigine may exacerbate the seizures.
What is ohtahara’s syndrome?
This patient has Ohtahara’s syndrome, also known as early infantile epileptic encephalopathy. This is a rare severe neurologic condition in which seizures begin during early infancy (between 1 day and 3 months of age). Patients have epileptic tonic spasms occurring multiple times per day. The EEG typically shows a burst suppression pattern that is present during wakefulness or sleep. This is a catastrophic epileptic encephalopathy with intractable seizures and a very poor prognosis. In one series, 25% of patients died before 2 years of age. All survivors have severe disabilities and developmental impairment.
