Tag Archives: Epilepsy

Non-vasculitic Autoimmune Inflammatory Meningoencephalitis (NAIM)

Clinical features: Progressive encephalopathy, cognitive impairment. Ataxia, seizures, tremors and visual hallucinations can occur. Findings on investigations: ESR may be raised SS-A or SS-B: may be positive CSF analysis: Often raised WCC and protein Immunoglobulin (Ig)G index and synthesis rate EEG: mild-moderate diffuse slowing MRI: normal Cerebral angiography: normal Pathology, brain biopsy: Leptomeningeal perivascular lymphocytic … Continue reading Non-vasculitic Autoimmune Inflammatory Meningoencephalitis (NAIM)

Glucose Transporter Type I Deficiency Syndrome GLUT1 DS

Clinical features: Seizures, developmental delay, spasticity, acquired microcephaly, and ataxia Dystonia Genetics: Autosomal dominant, de novo mutation SLC2A1 gene, Findings on investigations: CSF: low glucose, low glucose:serum ratio, low CSF lactate Erythrocyte glucose transporter activity: reduced uptake into erythrocytes Related articles: Approach to movement disorders, approach to ataxia, approach to dystonia, Epilepsy,

Cerebrotendinous Xanthomatosis

Clinical features: Neonates: cataracts, diarrhea, pyramidal and cerebellar signs, learning disability later on Adults: Seizures, dementia, myelopathy (spinal form), Enlarged tongue, tendon xanthomas, premature vascular disease, cataracts Genetics: Autosomal recessive, CYP27A1 gene on chromosome 2q, sterol 27-hydroxylase deficiency, Findings on investigations: Lipid profile: increased cholesterol CT: white matter hypdensities in cerebrum, cerebellar dentate nucleus hypdensities, … Continue reading Cerebrotendinous Xanthomatosis

Leukodystrophy

Synonyms: Leucodystrophy, leukodystrophies Introduction: This is a group of various disorders of abnormal white matter myelination. They are often referred to as dysmyelinating disorders. Types: Adrenoleukodystrophy and adrenomyeloneuropathy Metachromatic leukodystrophy MLD a.k.a. arylsulfatase A deficiency Krabbe disease (Globoid Cell Leukodystrophy) a.k.a. galactocerebroside b-galactosidase deficiency Alexander disease Canavan disease a.k.a. spongiform degeneration a.k.a. N-acetylaspartatoacylase deficiency Sudanophilic … Continue reading Leukodystrophy

Lissencephaly

Diagnosis: MRI: Smooth surface of the brain Genetics: Doublecortin (DCX) gene, X-linked. Blood testing available. MRI in affected men: lissencephaly MRI in affected women: double cortex band heterotopia, subcortical laminar heterotopia, lissencephaly Related articles: Epilepsy,

Febrile Seizures

Diagnosis: Seizures associated with fever in children from 6 months to 6 years old Complicated febrile seizure: >15 minutes, recur within 24 hours, localising signs i.e. complex febrile seizures, multiple seizures These need more evaluation and observation Investigations to consider: FBC, U&E, glucose Blood cultures Urinalysis +/-urine culture CSF analysis Consider EEG and MRI Treatment: … Continue reading Febrile Seizures

Tuberous Sclerosis

Synonyms: a.k.a. Bournvile disease Genetics: Genetic tests: chr. 9q34 TSC1 encoding hamartin , chr. 16p13 TSC2 encoding tuberin Diagnosis: Clinical features plus findings on investigations Clinical  features: Seizures Retinal hamartomas Skin: Hypopigmented macules a.k.a. ‘Ash leaf shaped’, easier to see with Wood lamp (UV light)= poliosis (white hair) on the scalp Ungal fibromas, shagreen patches … Continue reading Tuberous Sclerosis

Intracranial Empyema

Diagnosis: A combination of clinical features, imaging and Growth on cultures from the collection Clinical features: seizures, cognitive dysfunction, hemispheric symptoms (aphasia, apraxia, hemiparesis) Findings on Investigations: CT: cavity +low density +gas MRI: resectricted diffusion in an axtra-axial collection Growth on cultures from the collection Related articles: Approach to cognitive dysfunction, Approach to weakness, Epilepsy,

Subacute Sclerosing Panencephalitis (SSPE)

Diagnosis: Clinical features, plus EEG Clinical features: Previous measles infection. Children or young adults. Subacute onset of progressive cognitive deficits, behavioural problems, spasticity, rigidity, Myoclonus, generalised seizures Findings on Investigations: EEG: flat with episodic bursts Anti-measles antibodies CSF: raised IgG index Pathology: Gross: hard brain (gliosis), Microscopic: intracellular (type A) and intracytoplasmic neuronal and glial … Continue reading Subacute Sclerosing Panencephalitis (SSPE)

Chilhood Epilepsy Syndromes

For each syndrome seizure disorder a combination of history, physical examination & EEG are used Childhood absence epilepsy CAE Juvenile absence epilepsy JAE West syndrome a.k.a. Infantile spasms Aicardi syndrome a.k.a. Aicardi-Goutieres syndrome Jeavons Syndrome (Eyelid myoclonia with or without absences) Lennox-Gestuat syndrome Benign epilepsy with centrotemporal spikes BECTS a.k.a. benign rolandic epilepsy Juvenile myoclonic … Continue reading Chilhood Epilepsy Syndromes

Autosomal dominant partial epilepsy with auditory features (ADTLE)

Synonyms: a.k.a. Autosomal dominant lateral temporal epilepsy Genetics: Autosomal dominant LGI1 gene (leucine-rich glioma inactiated) chr. 10q Clinical features: Auditory symptoms (buzzing, ringing, volume changes, songs, voices),receptive aphasia as ictal manifestations, seizures precipitated by sounds Related articles: Epilepsy,

Generalised epilepsy with febrile seizures plus (GEFS+)

Genetics: Autosomal dominant, familial Na+: SCN1A chr. 2q24. Alpha 1 subunit SCN1B chr. 19q13.1, Beta 1 subunit (incomplete penetrance) GABA: GABRG2 chr. 5q31, Gamma2 subunit (incomplete penetrance) Clinical features: Febrile seizures >6 y.o. or Generalised seizures without fever: GTCS, myoclonic, absence & atonic seizures Related articles: Epilepsy,

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)

Diagnosis: A type of channelopathy Diagnosed by clinical features, plus EEG Genetics: Autosomal dominant CHRNA4 chr. 20q13.2, ENFL2 chr. 15q24 Clinical features: 1st & 2nd decades, persist. Seizures occurring exclusively in drowsiness or sleep. EEG: frontal origin, clusters. Interictally: normal Related articles: Epilepsy,

Benign Familial Neonatal Seizures

Synonyms: a.k.a. Benign Familial neonatal convulsions (benign infantile epilepsy) Diagnosis: A type of channelopathy Diagnosed clinically Genetics: Autosomal dominant. K+ KCNQ2 or KCNQ3 Clinical features: Neonatal seizure clearing spontaneously after a few weeks. Onset on Day 3 remission by week 6 Normal development afterwards A minority have epilepsy Related articles: Epilepsy,

Myoclonic Astatic Epilepsy of Childhood

Diagnosis: Clinical plus EEG Clinical features: 2-5 years old. Initially GTCS occur, then myoclonic seizures & drop attacks develop. Usual attacks have myoclonic jerks followed by drop attacks. Status epilepticus occurs. Findings on Investigations: EEG: Background of 4- to 7-Hz rhythm. Regular or irregular bilaterally synchronous 2- to 3-Hz spike-waves and/or polyspike-waves. Sleep increases he … Continue reading Myoclonic Astatic Epilepsy of Childhood

Severe Myoclonic Epilepsy of Infancy

Synonyms: a.k.a. Dravet’s syndrome Genetics: Na+ SCN1A 2q24 de novo mutations Clinical features: Onset <1y.o., tonic-clonic seizures Later; myclonic, absense & partial seizures +speech & motor arrest & reduced life expectancy Treatment: Valproate VPA Topiramate TPM, clonazepam, clobazam Related articles: Epilepsy.

Focal epilepsy (cryptogenic, symptomatic)

Diagnosis: Clinical features, EEG with negative tests for secondary causes Clinical features: partial epilepsy Findings on Investigations: EEG: partial seizures MRI: no lesions Treatment: Valproate VPA, Carbamazepine CBZ Lamotrigrine, Topiramate TPM, oxacarbazepine Related articles: Epilepsy,

Idiopathic generalized epilepsy with Generalized tonic-clonic seizures only

Diagnosis: Clinical plus EEG Clinical features: generalised tonic-clonic seizures Findings on Investigations: EEG: generalised spike & wave Treatment: Carbamazepine CBZ, Valproate VPA Lamotrigrine, Topiramate TPM Related articles: Epilepsy,

Juvenile Myoclonic Epilepsy (JME)

Synonyms: a.k.a. Janz syndrome Diagnosis: Clinical features plus EEG Clinical features: myoclonic jerks, shortly after waking. Generalized tonic clonic seizures triggered by sleep deprivation Findings on Investigations: EEG: 4-6 Hz generalized spike wave. Treatment: Life long Valproate VPA orally (except in women of childbearing age) Lamotrigrine, Levetiracetam LEV, Topiramate TPM, primidone Related articles: Epilepsy,

Benign epilepsy with centrotemporal spikes (BECTS)

Synonyms: a.k.a. benign rolandic epilepsy Diagnosis: Clinical features pluse EEG Clinical features: Onset 5-10 years old., < 15 years old Resolves by age 16 years old Nocturnal seizures with mouth movement & gurgling, may generalise Findings on Investigations: EEG: centro-temporal ‘rolandic’ sharp wave activity on normal background, increases during sleep. Has characteristic dipole Treatment: Carbamazepine … Continue reading Benign epilepsy with centrotemporal spikes (BECTS)

Lennox-Gestuat Syndrome

Diagnosis: Clinical features and EEG Clinical features: Onset 1-10 years old Multiple seizure types Mental retardation Findings on Investigations: EEG: Frontocentral slow spike-and-wave discharges <3 Hz & other abnormalities Generalized paroxysmal fast activity Treatment: Valproate VPA Lamotrigrine, Topiramate TPM, felbamate Related articles: Epilepsy,

Aicardi Syndrome

Synonyms: a.k.a. Aicardi-Goutieres syndrome, Diagnosis: Triad: Infantile spasms in flexion agenesis of corpus callosum ocular abnormalities Clinical features: Birth to childhood, progressive encephalopathy Seizures: infantile spasms, alternanting hemiconvulsions Microcephaly, spasticity, dystonia, Ocular: Visual inattention and abnormal eye movement Coloboma, lacunes in the retina, Fatal or persistent vegetative state Genetics: X-linked dominant Heterogenous Findings on Investigations: … Continue reading Aicardi Syndrome

West Syndrome

Synonyms: a.k.a. Infantile spasms Diagnosis: Clinical features plus EEG Clinical features: Onset 3 months – 3 years, Jack-knifing, myoclonus +/-mental retardation Findings on Investigations: EEG: hypsarrhythmia i.e. chaotic slow-wave high voltage background activity & sharp components High amplitude (voltage >200 microV) Slow waves, Sharps waves & spikes in all areas Sharps & spikes appear randomly … Continue reading West Syndrome

Juvenile Absence Epilepsy

Diagnosis: EEG: bilaterally synchronus 3 per second spike-and-wave Treatment: Valproate VPA Lamotrigrine Related articles: Epilepsy,

Progressive Myoclonic Epilepsy (PME)

Unverricht-Lundborg a.k.a. Baltic myoclonus Myoclonic epilepsy and ragged red fibres Lafora disease Neuronal ceroid lipofuscinosis Gaucher disease GM2 Gangliosidosis, hexosaminidase deficiency Sialidosis Juvenile neuroaxonal atrophy Dentatorubral-Pallidoluysian atrophy Related articles: Approach to cognitive impairment, Epilepsy,  

Neuronal Ceroid Lipofuscinosis

Synonyms: Jansky-Bielschowsky, (Spielmeyer-Vogt-Sjogren) Batten, (Parry) Kuf, Santavori Diagnosis: A group of lysosomal storage disorders Types: Infantile INCL Type 2: Late infantile LINCL a.k.a. Classic a.k.a. Jansky-Bielschowsky disease Type 3: Juvenile JNCL a.k.a. Spielmeyer-Vogt-Sjogren disease, or Batten disease Type 4: Adult ANCL a.k.a. Kuf’s disease, or Parry disease. No visual failure Type 5: Finish variant Genetics: … Continue reading Neuronal Ceroid Lipofuscinosis

GM2 Gangliosidosis, Hexosaminidase Deficiency

Diagnosis: A type of lysosomal storage disease. Also a sphingolipidosis. Subtypes: Tay-Sachs disease: hexosaminidase A gene mutation, HEXA gene chr. 15q, encodes the alpha subunit Sandhoff disease: hexosaminidase B gene mutation, HEXB gene chr. 5q, encodes the beta subunit AB variant a.k.a. GM2 activator deficiency: GM2A gene chr. 5q, encodes activator protein Related articles: Epilepsy,

Gaucher Disease

Synonyms: a.k.a. Glucosylcerebrosidase deficiency Diagnosis: A type of lysosomal storage disease. A type of sphingolipidosis. Also a type of Progressive myoclonic epilepsy Genetics: Autosomal recessive Subtypes: Type 1 Type 2, absent enzyme activity Type 3, “neurological”: Supranuclera gaze palsy, myoclonus, no dementia Splenomegaly, pancytopenia Pathology: Ectopic dendritogenesis, meganeurites Treatment: Options as below Enzyme replacement therapy: … Continue reading Gaucher Disease

Myoclonic Epilepsy and Ragged Red Fibres (MERRF)

Genetics: mitochondrial DNA mutation Diagnosis: A form of progressive myoclonic epilepsy Clinical features: Myopathy, neuropathy Deafness Lipomas Optic atrophy Myoclonus Genetics: Familial, sporadic, maternal Mitochondrial DNA mutation Pathology: Ragged red fibres in muscle. Changes in Dentate nucleus & inferior olive Related articles: Epilepsy, mitochondrial disorders,

Juvenile Neuroaxonal Atrophy

A form of progressive myoclonic epilepsy Clinical features: Myoclonus, dementia, ataxia Neuropathy, choreoathetosis Choreoathetosis appears when myoclonus is suppressed & vice versa Pathology: Autonomic terminals: Axonal spheroids Related articles: Epilepsy, Approach to cognitive impairment,

Sialidosis

A form of progressive myoclonic epilepsy Type 1: Clinical features: Adolescence, severe myoclonus, gradual visual loss, ataxia Cherry-red spot No dementia Genetics: Autosomal recessive Chr. 20 Pathology: Decreased neuraminidase   Type 2: Clinical features: adolescence, severe myoclonus, gradual visual loss, ataxia Cherry-red spot No dementia Coarse facies, corneal clouding Genetics: Autosomal recessive, Chr. 10 Pathology: … Continue reading Sialidosis

Lafora Disease

A form of progressive myoclonic epilepsy Diagnosis: Clinical features plus EEG and pathology Genetics: EPM2A gene chr. 6q24, protein= laforin (a dual phosphatase), EPM2B gene chr. 6q22.3 a.k.a. NHLRC1 gene, protein = malin (a E3 ubiquitin ligase) Clinical features: Age 10-18 y.o. epilepsy, segmental massive myoclonus, rapidly progressive mental deterioration (dementia), ataxia. Findings on Investigations: … Continue reading Lafora Disease

Unverricht-Lundborg Disease

Synonyms: a.k.a. Baltic myoclonus A form of progressive myoclonic epilepsy Diagnosis: Clinical features plus genetics Clinical features: Age 6-16, myoclonus, ataxia, dementia Absence, atonic seizures may occur Genetics: Autosomal recessive Chr. 21q Pathology: Affects cerebellum, thalamus, spinal cord Neuronal loss, gliosis Related articles: Epilepsy,

Nitromethane Encephalopathy

Diagnosis: Clinical plus imaging Clinical features: Seizures (generalised or partial), dysmetria, intension tremor, ataxia Findings on Investigations: MRI: T2 high intensity in cerebellar white matter, tonsils, uvula, and colliculi. Features may resolve on follow up Related articles: Epilepsy,

Alcohol Withdrawal

Synonyms and related conditions: Alcohol withdrawal seizures & delirium tremens DT Diagnosis: This is a clinical diagnosis Clinical features Within 6-36 hours of cessation of/decrease in alcohol consumption, Autonomic symptoms: diaphoresis, tachycardia, and hypertension Neurological symptoms: tremor, anxiety, hallucinations (tactile, visual or auditory), agitation, seizures, headache, insomnia. Delirium tremens DTs: Alcohol withdrawal +disorientation, confusion, agitation … Continue reading Alcohol Withdrawal

Neurocysticercosis

Synonyms: Taenia solium (pork tapeworm) Diagnosis: Imaging plus clinical features Clinical features: Seizures, Meningitis may occur Findings on Investigations: MRI: T1 +contrast: multiple ring enhancing lesions with edema T1, punctuate signal void FLAIR: hyperintensity (gliosis) surrounds the lesions CT: Multiple calcified lesions +/-surrounding edema Migrating intraventricular cyst +positive serology for neurocysticercosis Treatment: Albendazole 800mg P.O. … Continue reading Neurocysticercosis

Rasmussen Encephalitis

Diagnosis: A combination of clinical, MRI and EEG findings Clinical features: Childhood onset Intractable partial seizures, worsen with time, epilepsia partialis continua, hemiplegia, aphasia Findings on Investigations: MRI: White matter hyperintensity and then atrophy EEG: Focal and multifocal epileptiform discharges and slowing Pathology: Cortical atrophy, perivascular lymphocytic infiltrates with vascular injury, astorcytic gliosis, neuronal loss … Continue reading Rasmussen Encephalitis

Transient Epileptic Amnesia

Diagnosis: Clincial features plus supporitng EEG Clinical features: Older adults Transient episode of memory loss. 30-60 minutes in duration. Recurs. +1 of the following 3: Clinical features of epilepsy such as lip-smacking or olfactory hallucinations Epileptiform abnormalities on electroencephalogram (EEG) Clear response to anticonvulsant therapy. Related articles: Epilepsy, Approach to acute confusion, Transient global amnesia,

Gastaut-Geschwind Syndrome

Diagnosis: Clinical plus EEG findings Clinical features: Hypergraphia, hyposexuality, hyperreligiosity, and interpersonal viscosity Occuring in some patients with temporal lobe epilepsy. Related articles: Epilepsy,

Heterotopia

Diagnosis: Pathology is the gold standard, but MRI is an excellent test for diagnosis Clinical features: epilepsy Findings on Investigations: MRI: Subepindymal, subcortical or band/diffuse Subcortical band heterotopia FDG-PET: Intertictal: increase uptake in the subcortical band. EEG: interictal & ictal abnormalities Genetic forms: doublecortin (DCX) gene, X-linked. Blood testing available. MRI in affected men: lissencephaly, … Continue reading Heterotopia

Mesotemporal Sclerosis

Synonyms: a.k.a. mesial temporal sclerosis a.k.a. Amon’s horn sclerosis a.k.a. hippocampal sclerosis Diagnosis: Pathology is the gold standard, but MRI is very sensitive Pathology: Gold standard Atrophy, white discolouration of the hippocampal formation, enlarged temporal horn of the lateral ventricle. Fornix atrophy. Microscopically: loss of neurons (pyramidal & dentate layer) in CA1 (Sommer sector) & … Continue reading Mesotemporal Sclerosis

Status Epilepticus

Diagnosis: Clinical supported by EEG Clinical features: This is an emergency & should be treated as soon as recognised, before EEG or tests A seizure or multiple seizures without regaining consciousness in between lasting >10 min Findings on Investigations: EEG: there is a sequence of EEG findings. 1 discrete seizures 2 merging seizures with waxing … Continue reading Status Epilepticus