Neurology Flashcards
Presentation of dystrophic myotonia
Mild weakness in the first few years Progressive wasting of distal muscles Cataracts Learning difficulties Low IgG Hypothyroidism
Diagnostic tests for dystrophic myotonica
Immunoglobulins DNA studies Blood glucose EMG TFTs
Features of cingulate herniation (subfalcine - foramen magnum)
Usually asymptomatic
Diplegia
Hemiplegia
Visual symptoms
Features of central herniation (tentorial)
Sunsetting sign (upward gaze palsy, dilated pupils) VI nerve palsy Decerebrate rigidity Irregular respiration Hypertension Seizures
Features of uncal herniation
Unilateral fixed dilated pupils III nerve palsy Contralateral hemiplegia Extensor plantars Then ipsilateral hemiplegia
Features of tonsillar herniation
Bulbar palsy Stridor Hypotension Hyperthermia Neck stiffness Cardiorespiratory arrest
Causes of hypsarrhythmia on EEG
Tuberous sclerosis
Idiopathic
Head injury
EEG pattern associated with infantile spasms
Hypsarrhythmia
EEG pattern in absence seizures
Spike-wave complexes at a rate of 3 per second
EEG pattern in benign rolandic epilepsy
High aptitude spikes in the Centro-temporal region
EEG pattern in herpes simplex encephalitis
Periodic complexes clustered in the temporal region OR
Fronto temporal slowing with periodic sharp wave complexes
EEG pattern in tuberous sclerosis
High amplitude slow waves and multifocal spikes in a chaotic pattern (hypsarrhythmia)
EEG pattern in space occupying lesion
High amplitude slow wave activity seen in a localised region
Structures involved in Erbs palsy
Deltoid
Extensor carpi radialis longus
Absent biceps jerk
Features of Landau-Kleffner
Infrequent seizures
Acquired receptive aphasia
Behavioural disturbance with hyperactivity
Features of NF1
Cafe au lait patches Axillary/inguinal freckling Neurofibromas Optic glioma ≥2 lisch nodules Fibroid dysplasia of bone Macrocephaly (not diagnostic)
Features of Fabry’s disease
Cataracts
Early MIs/strokes/renal impairment
Capillary haemangiomas
Burning sensation in hands and feet
Antiepileptic which causes permanent visual field loss in up to 30% patients
Vigabatrin
Antiepileptic which causes liver failure
Sodium valproate
Antiepileptic which causes dizziness, headache, tremor, gum hypertrophy, coarse face, hirsutism
Phenytoin
Antiepileptic which causes nausea, agitation, tremor, increased appetite, weight gain, hair loss
Sodium valproate
Features of mumps meningoencephalitis
Lymphadenopathy and parotid swelling
Meningitic features with confusion 7-10 days later
Aseptic meningitis on LP
What is Riley Day syndrome also known as?
Familial dysautonomia
Hereditary sensory autonomic neuropathy type 3
Diagnostic test for Tay-Sachs
Hexoseaminidase levels
Symptoms of Arnold-Chiari malformation
Nerve palsies
Atypical facial pain
Respiratory depression
Symptoms due to long spinal tracts being compressed
Best medications for juvenile myoclonic epilepsy?
Sodium valproate
Levetiracetam
Diagnostic testing for SMA type 1?
Survival motor neurone genotype (molecular genetic testing)
Factors increasing risk of seizures on discontinuation of antiepileptics
Older age
Use of multiple anticonvulsants
Myoclonic or tonic clonic seizures
Previous abnormal imaging or EEG
Tumours associated with neurofibromatosis type 1?
Astrocytomas Wilms tumour Phaeochromocytoma Neuroblastoma Meningioma Medulloblastoma
Features of Landau-Kleffner syndrome
Seizures in approx 70%
Receptive or expressive aphasia
Bitemporal abnormalities on EEG
Features of Friedreich’s ataxia
Ataxia Posterior column spinal cord dysfunction Loss of deep tendon reflexes Motor weakness in lower limbs Dysarthria Pes cavus Reduced visual acuity Cardiac abnormalities
Adjunctive treatments for tonic clonic seizures if valproate/lamotrigine ineffective
Clobazam Lamotrigine Levetiraetam Sodium valproate Topiramate
Features of metachromatic leucodystrophy
Lysosomal storage disease Gross motor skill regression Abnormal gait Loss of deep tendon reflexes Behavioural difficulties \+/- seizures
Antiepileptic causing hyponatraemia in overdose
Carbamazepine
Antiepileptic causing rectal irritation
Paraldehyde
Anti epileptic causing rickets
Phenytoin
Complications of topiramate
Renal stones
Sedation
Anorexias
Paraesthesia
Features of neuronal ceroid lipofuscinosis
Dementia
Visual difficulties
First line tests for NCL
MRI LP VEP ERG Rectal biopsy - characteristic cytoplasmic inclusions Skin biopsy - curvilinear bodies
Features of internal capsule lesion
Contralateral hemiplegia
Sensory loss
UMN cranial nerve deficit in the side opposite the lesion
Features of temporal lobe lesion
Memory problems
Isolated motor/sensory deficit
Features of parietal lobe lesions
Speech difficulty
Unilateral limb sensory/motor loss
Features of pons lesions
LMN ipsilateral cranial nerve deficits
Contralateral limb hemiplegia and loss of sensation
Features of lesions in the medulla
LMN cranial nerve deficits on the same side of the lesion
Motor deficit in the contralateral limb
Tests if suspecting Friedreich’s ataxia
Brainstem and somatosensory evoked potential
Echo
Genetic testing
Congenital infection causing IUGR, hepatosplenomegaly, jaundice and diffuse intracranial calcification
Toxoplasmosis
Congenital infection causing IUGR, hepatosplenomegaly, jaundice, purpuric rash, periventricular calcification
CMV
Features of Menke’s disease
Hypotonia, hypothermia Myoclonic seizures Chubby, rosy cheeks Kinky, colourless, friable hair Severe mental retardation Optic atrophy Low serum copper and ceruloplasmin
Features of Moebius syndrome
Congenital facial and abducens nerve palsy Ectropion Epiphora Exposure keratopathy Abduction weakness Difficulty chewing, swallowing, coughing Micrognathia
First line treatment for absence seizures
Ethosuximide
First line treatment for myoclonic epilepsy
Sodium valproate
Levetiracetam
Topiramate
Useful adjunct in cluster epilepsy
Clobazam
First line treatment for complex partial seizures
Carbamazepine
Features of benign rolandic epilepsy
2-12 years
Focal seizures occurring in clusters and during sleep
Unilateral facial sensorimotor symptoms common
Drugs causing peripheral neuropathy
Phenytoin Nitrofurantoin Ethambutol Azidothymidine (AZT) Metronidazole Isoniazid Amiodarone Vincristine Vinblastin Cysplatin
Blood tests for a child with chorea
Thyroid function tests
Caeruloplasmin levels
Antinuclear antibodies
Causes of pes cavus
Friedreich's ataxia Tethered spinal cord Spina bifida Duchenne Charcot Marie Tooth
Most things that cause distal lower limb weakness
Features of Smith-Lemli-Opitz
Low set ears Broad, upturned nose Micrognathia Syndactyly of toes Hypospadias Initial hypotonia, later hypertonia Cryptorchidism CVS/renal/GI abnormalities
Features of Cornelia de Lange
Learning difficulties Poor growth Confluent, bushy eyebrows Low hairline Micrognathia Small hands and feet Thin lips Anteverted nose Down turned mouth ASD/VSD
Congenital infection causing chorioretinitis, thrombocytopenia and blueberry muffin purport, cardiac lesions, deafness, bony involvement, hepatosplenomegaly, jaundice
Rubella
Conditions causing fasciculations
Werdnig-Hoffman
Polio
Syringomyelia
Cervical spondylosis
Treatment for Guillain-Barre
Physio
Plasmapheresis
IVIG
Scoring of eye opening in GCS
4 - spontaneous
3 - to verbal command
2 - to painful stimuli
1 - no eye opening
Scoring of verbal in GCS
Adult/older child
5 - oriented 4 - confused conversation 3 - inappropriate words 2 - incomprehensible sounds 1 - none
Scoring of grimace in GCS
Young child
5 - spontaneous/normal activity 4 - Less than usual spontaneous, only responsive to touch 3 - vigorous grimace to pain 2 - mild grimace to pain 1 - no response to pain
Motor scoring in GCS
6 - obeys commands 5 - localises pain 4 - normal flexion to pain 3 - abnormal flexion to pain (decorticate) 2 - extension to pain (decerebrate) 1 - no response
Level of lesion causing absent hip flexion
L1-2
Features of Leigh’s disease
Swallowing problems Vomiting Failure to thrive Delayed motor milestones Generalised seizures Weakness Sighing or sobbing breathing Visual abnormalities Elevated serum lactate
Features of glutamic acidaemia
Develop normally for first 2 years
Then suddenly develop extra-pyramidal signs during a mild illness
Features of Kearns-Sayre syndrome
Involves muscles controlling eyelid movement and extra ocular muscles
Bilateral pigmentary retinopathy
Cardiac abnormalities
Also: Cerebellar ataxia Proximal muscle weakness Deafness Diabetes GH deficiency HypoPTH other endocrine issues
Features of dopa-responsive dystonia
Age 7ish
Cramps after exercise
Then develop parkinsonism
Symptoms better in the morning and worsen with exertion
Features of NCL
Progressive visual loss Dementia Motor decline Therapy resistant epilepsy Ultimate death
Best choice for generalised seizures in teenage girls
Lamotrigine
EEG pattern in Friedreich’s ataxia
Low amplitude compound muscle action potentials, or absent sensory nerve action potentials
Treatment for infantile spasms
Vigabatrin
Skin feature in Fabry’s disease
Angiokeratoma
