Neuro Other Flashcards

Question

What is bulbar palsy?

Answer 1

Speech and swallowing difficulties Lower cranial nerves (speech and swallow) emerge from bulbar portion on braintsem LMN problem (Involvement of corticobulbar fibres - pseudobulbarpalsy UMN)

Answer 2

Expressive - Non-fluent Receptive- Fluent Associated with higher mental function problems

Answer 3

Dysarthia - articulation problem Dysphonia - volume problem

Answer 4

Hyperkinetic - involuntary additional movements: tremor, chorea, dystonia, ballism, myclonus, tic Hypokinetic - stiffness, slowness

Answer 5

Both are jerks, can be repetitive Tics - small, often facial. Compulsion a feature simple - repetitive, single muscle group multiple - associated grunts noise, vocalization - Tourette's

Answer 6

Ataxic gait Speech - scanning Nystagmus Limb ataxia - dysidadochokinaesia Reduced tone Pendular reflexes

Answer 7

Finger nose teesting Heel shin testing

Answer 8

Chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME). CFS/ME is characterised by persistent and disabling fatigue, post-exertional malaise (PEM), unrefreshing sleep, cognitive dysfunction and headaches. The symptoms in CFS/ME are not related to other medical or psychiatric conditions; however, symptoms are often preceded by a viral illness. There are no curative medications or treatments for chronic fatigue; instead, the primary goal of treatment is to manage symptoms and improve functional capacity. Therefore, initial treatment should include counselling and supportive care, helping patients to understand their condition and implement techniques to improve exercise tolerance.

Answer 9

Hoffman’s sign is elicited by loosely holding the hand and flicking the nail of the middle finger downwards. It is positive when the thumb flexes and adducts. This is considered by some as the Babinski test of the upper limb, although not as reliable for upper motor neuron (UMN) lesions because it is positive in a proportion of healthy people. Healthy people tend to be Hoffman’s positive in both right and left hands, so it is more likely to be pathological if it is unilateral.

Answer 10

Weakness of metacarpopgalangeal joint extension of all digits, weakness of wrist extension due to radia nerve injury (mid humeral fracture - radial groove)

Answer 11

Chorea Tics Tremor Myoclonus

Answer 12

Wernicke's encephalopathy - an acute but reversible condition caused by severe thiamine (vitamin B1) deficiency. This can be caused by a combination of factors, including poor intake, low vitamin content in alcohol, low liver storage capacity, decreased intestinal absorption, impaired conversion of thiamine to its active form (thiamine pyrophosphate), and increased demand to metabolise the carbohydrates in alcohol. Suggestive features in patient history include a history of alcohol misuse and the presentation of acute cognitive dysfunction, ataxia, impaired balance and nystagmus. It is important to note that the classic triad associated with Wernicke's encephalopathy - mental status changes, ophthalmoplegia and gait dysfunction - is only present entirely in approximately 20% of patients.

Answer 13

Autonomic neuropathy, a common complication of poorly controlled diabetes, may present as postural hypotension and gastroparesis

Answer 14

Charcot-Marie-Tooth disease is an inherited disease that affects the peripheral motor and sensory nerves. There are various types of Charcot-Marie-Tooth with different genetic mutations and different pathophysiology. They cause dysfunction in the myelin or the axons. The majority of mutations are inherited in an autosomal dominant pattern. Symptoms usually start to appear before the age of 10 years but the onset of symptoms can be delayed until 40 or later.

Answer 15

High foot arches (pes cavus) Distal muscle wasting causing “inverted champagne bottle legs” Weakness in the lower legs, particularly loss of ankle dorsiflexion Weakness in the hands Reduced tendon reflexes Reduced muscle tone Peripheral sensory loss

Answer 16

ABCDE A - alcohol B - B12 deficiency C - Cancer and Chronic Kidney Disease and CMT D - Diabetes and Drugs (e.g. isoniazid, amiodarone and cisplatin) E- every VASCULITIS

Answer 17

Neurologists and geneticists to make the diagnosis (gene testing, nerve conduction studies) Physiotherapists to maintain muscle strength and joint range of motion Occupational therapists to assist with activities of living Podiatrists to help with foot symptoms and suggest insoles and other orthoses to improve symptoms Orthopaedic surgeons to correct disabling joint deformities

Answer 18

Genetic condition causing neuromas (nerve tumors) to develop throughout the nervous system Benign but can cause neurological and structural problems . There are two types of neurofibromatosis with different features. Neurofibromatosis type 1 is more common than type 2.

Answer 19

The neurofibromatosis type 1 gene is found on chromosome 17. It codes for a protein called neurofibromin, which is a tumour suppressor protein. Inheritance of mutations in this gene is autosomal dominant.

Answer 20

At least 2/7 of CRABbING CAFE AU LAIT SPOTS (6 or more) measuring ≥ 5mm in children or ≥ 15mm in adults RELATIVE with NF1 AXILARY OR INGUNAL FRECKLES BONY DISPLASIA SUCH AS BOWING of a long bone or sphenoid wing dysplasia IRIS HAMARTOMAS (Lisch nodules) (2 or more) are yellow brown spots on the iris NEUROFIBROMAS (>1) or 1 plexiform neurofibroma GILOMA of the optic nerve

Answer 21

Diagnosis is based on clinical criteria (2/7 or more features for NF1) and no investigations are required to make a definitive diagnosis. Genetic testing can be used where there is doubt. Xrays can be used to investigate bone pain and bone lesions. Imaging with CT and MRI scans can be used to investigate lesions in the brain, spinal cord and elsewhere in the body.

Answer 22

Migraines Epilepsy Renal artery stenosis causing HTN Learning and behavioural problems such as ADHD Scoliosis Vision loss (secondary to optic nerve gilomas) Malignant peripheral nerve sheath tumours Gastrointestinal stromal tumour (a type of sarcoma) Brain tumours Spinal cord tumours with associated neurology such as paraplesia Increased risk of cancer (e.g. breast cancer) Leukaemia

Answer 23

The neurofibromatosis type 2 gene is found on chromosome 22. It codes for a protein called merlin, which is a tumour suppressor protein particularly important in Schwann cells. Mutations in this gene lead to the development of schwannomas (benign nerve sheath tumours of the Schwann cells). Inheritance is autosomal dominant.

Answer 24

Neurofibromatosis type 2 is most associated with acoustic neuromas. These are tumours of the auditory nerve innervating the inner ear. Symptoms of an acoustic neuroma are: Hearing loss Tinnitus Balance problems Schwannomas can also develop in the brain and spinal cord with symptoms based on the location of the lesion. Surgery can be used to resect tumours although there is a risk or permanent nerve damage.

Answer 25

Tuberous sclerosis is a genetic condition that causes features in multiple systems. The characteristic feature is the development of hamartomas. These are benign neoplastic growths of the tissue that they origin from.

Answer 26

Benign neoplastic growth of the tissue they orginate from. They can cause problems based in the location of the lesion commonly: Heart Brain Skin Kidneys Eyes Lungs

Answer 27

Either of: TSC1 gene on chromosome 9, which codes for hamartin TSC2 gene on chromosome 16, which codes for tuberin

Answer 28

Hamartin and tuberin interact with each other to control the size and growth of cells. Abnormalities in one of these proteins leads to abnormal cell size and growth.

Answer 29

ASH LEAF SPOTS are depigmented areas of skin shaped like an ash leaf SHAGREEN PATCHES are thickened, dimpled, pigmented patches of skin ANGIOFIBROMAS are small skin coloured or pigmented papules that occur over the nose and cheeks SUBUNGUAL FIBROMATA are fibromas growing from the nail bed. They are usually circular painless lumps that grow slowly and displace the nail CAFE AU LAIT SPOTS are light brown “coffee and milk” coloured flat pigmented lesions on the skin POLIOSIS is an isolated patch of white hair on the head, eyebrows, eyelashes or beard

Answer 30

Epilepsy Learning disability and developmental delay

Answer 31

Skin: cafe au lait spots, poliosis, subungual fibromata, angiofibromas, shagreen patches, ash leaf spots Neurological: epilepsy, learning disability and developmental delay Gilomas Rhabdomyomas in the heart Polycystic kidneys Lymphangioleiomyomatosis (abnormal growth in smooth muscle cells, often affecting the lungs) Retinal hamartomas

Answer 32

The classical presentation is a child presenting with epilepsy found to have skin features of tuberous sclerosis. It can also present in adulthood.

Answer 33

Friedrich's ataxia The spinocerebellar ataxias

Answer 34

Lesions to the cerebellar vermis typically cause truncal ataxia and gait instability, with relatively few cerebellar signs in the limbs. Lesion to the cerebellar hemisphere will cause signs in the ipsilateral limb.

Answer 35

A bulbar palsy is a 'lower motor neurone' lesion affecting cranial nerves 9, 10 and 12. This causes impairments in speech and swallowing.

Answer 36

Motor neurone disease (in particular the progressive bulbar palsy variant) Myasthenia gravis Guillain-Barré syndrome Brainstem stroke (the lateral medullary syndrome) Syringobulbia

Answer 37

Mononeuritis multiplex is simultaneous or sequential involvement of individual non-contiguous nerve trunks. It typically presents with acute or subacute loss of sensory and motor function of individual nerves. The pattern of involvement is asymmetric, however, as the disease progresses, deficit(s) becomes more confluent and symmetrical, making it difficult to differentiate from polyneuropathy.

Answer 38

Cerebellar vermis

Answer 39

that the muscle can work with gravity removed

Answer 40

Syringomyelia classically presents with cape-like loss of pain and temperature sensation due to compression of the spinothalamic tract fibres decussating in the anterior white commissure of the spine

Answer 41

lesion of optic chiasm upper quadrant defect > lower quadrant defect = inferior chiasmal compression, commonly a pituitary tumour lower quadrant defect > upper quadrant defect = superior chiasmal compression, commonly a craniopharyngioma

Answer 42

Vitamin B1 deficiency may cause Wernicke's encephalopathy. Wernicke's encephalopathy is the triad of: Confusion Ataxia Ophthalmoplegia/nystagmus. Note that not all 3 signs need to exist in one patient. The most common cause of Wernicke's encephalopathy is chronic alcohol abuse. It is therefore important to prescribe thiamine (vitamin B1) when patients present to hospital/community settings with a background of current excessive alcohol use.

Answer 43

Untreated, Wernicke's encephalopathy can progress to Korsakoff's syndrome. Korsakoff's syndrome presents as profound anterograde amnesia with limited retrograde amnesia. Patients may therefore confabulate (fabricate memories to mask the memory deficit). Korsakoff’s syndrome is thought to be a result of degeneration of the mammillary bodies. The mammillary bodies are part of the circuit of Papez which plays a role in memory formation.

Answer 44

Autoimmune encephalitis (AE) is a form of non-infectious neuroinflammation that has become an increasingly recognized cause of acute/subacute progressive mental status change with a variety of clinical phenotypes.

Answer 45

Autoimmune encephalitis can present with a wide range of symptoms, including confusion, seizures, movement disorders, behavioural changes, emotional lability, psychosis, cognitive impairment and reduced conscious level. It is an important differential diagnosis in young people or adults presenting with an acute onset of new neurological or psychiatric symptoms without a past context of mental health problems. The onset in young people is often faster than in adults. Symptoms may fluctuate but usually progress over days to weeks.

Answer 46

Autoimmune encephalitis subtypes include definite limbic encephalitis, acute disseminated encephalomyelitis, anti-NMDA receptor encephalitis and Hashimoto's encephalopathy. Other differential diagnoses include non-convulsive status epilepticus, space occupying lesion, meningoencephalitis, acute demyelinating encephalomyelitis (which is usually preceded by a systemic viral illness or vaccination), stroke and trauma (including non-accidental injury).

Answer 47

Other differential diagnoses include non-convulsive status epilepticus, space occupying lesion, meningoencephalitis, acute demyelinating encephalomyelitis (which is usually preceded by a systemic viral illness or vaccination), stroke and trauma (including non-accidental injury).

Answer 48

Full neurological examination Blood tests: - Low sodium is associated with LG1 encephalitis - Antibodies: LGI1, NMDA receptor, CASPR2 - MRI - Lumbar puncture (will show increased levels of lymphocytes in the cerebrospinal fluid ('lymphocytic pleocytosis')) EEG is sensitive but not specific

Answer 49

The first-line treatment of autoimmune encephalitis includes steroids and intravenous immunoglobulin. Plasma exchange can also be used as an adjunctive treatment in those who are not fully responding to steroids or immunoglobulin; it is rarely used alone. The most common complications of plasma exchange are infection, hypotension and electrolyte imbalances due to fluid shifts. Second-line treatment, if patients are not responding within 2 weeks, includes immunosuppressant therapy with agents such as Rituximab and Cyclophosphamide. First line therapy should be continued during this time.

Answer 50

Encephalitis can occur as a paraneoplastic syndrome where autoimmune disorders are triggered by tumours. Therefore, it is important to screen for cancer in patients whom you suspect may have an underlying tumour. Particular associations: Anti-Hu: Small cell lung cancer NMDA receptor antibodies: Ovarian teratoma Anti-Yo: breast and ovarian tumours

Answer 51

Transient global amnesia is a neurological condition characterised by a temporary but total disruption of both short and long term memory. Other cognitive functions are preserved. It can present with patients being found wandering the street far away from their home. The episode may last for several hours before spontaneously resolving.

Answer 52

thiamine (Vitamin B1)

Answer 53

Wernicke's encephalopathy (WE): an acute encephalopathy characterised by a triad of confusion, ataxia, and oculomotor dysfunction

Answer 54

Confusion Ataxia Oculomotor dysfunction - Nystagmus This triad of features is only seen in up to one-third of patients.

Answer 55

Korsakoff syndrome (KS): a chronic amnesic syndrome characterised by defects in both anterograde and retrograde memory

Answer 56

The syndromes are most commonly observed in chronic alcoholism because of poor dietary intake, although other factors are involved including a possible genetic element. WKS is not restricted to chronic alcoholism and may be observed in other conditions (e.g. anorexia nervosa).

Answer 57

KS is essentially the late neuropsychiatric manifestation of WE if it goes unnoticed or untreated. Once KS has been established, patients rarely recover.

Answer 58

High dose B vitamins (e.g. Pabrinex®) is critical to prevent permanent neurological damage

Answer 59

From conditions that result in poor dietary intake or malabsorption of thiamine relative to metabolic requirements. Chronic alcoholism Prolonged fasting or starvation Anorexia nervosa Hyperemesis gravidarum Systemic malignancy End-stage renal failure: on haemodialysis or peritoneal dialysis Gastrointestinal disease & malabsorption

Answer 60

Thiamine is an essential cofactor for several metabolic reactions in the body. Thiamine is present in most foods, but specifically in whole grains, poultry, nuts, peas, brown rice, and fortified food. Once absorbed from the gastrointestinal tract it is stored in the liver. However, storage occurs for a maximum of 18 days meaning a moderate consumption of thiamine is needed to maintain stores.

Answer 61

Bedside: observations, blood glucose, GCS monitoring, ECG, cardiac monitor Bloods: electrolyte derangements and acute kidney injury may be seen, particularly with the development of rhabdomyolysis (e.g. hypophosphataemia, hypomagnesaemia, hyperkalaemia, metabolic acidosis, sodium disruption). Mildly deranged LFTs and leucocytosis are common. CK is critical in all suspected cases. Imaging: Cerebral imaging is important to exclude an alternative cause of confusion (e.g. CT head / MRI head) A lumbar puncture may be needed to exclude a cerebral infection or alternative cause of confusion (e.g. autoimmune encephalitis).

Answer 62

There should be a low index of suspicion for the presence of NMS in patients taking antipsychotics. The diagnosis of NMS is usually made in patients who present with characteristic clinical features who are also taking antipsychotics. A supporting feature includes an elevated creatine kinase (CK) due to muscle rigidity (e.g. >1000-100,000 IU/L). CK may be normal if rigidity is not profound or the patient is early in the presentation.

Answer 63

Wernicke-Korsakoff syndrome, thiamine deficiency leads to neuronal injury. Deficiency causes areas of the brain with high metabolic activity to undergo neuronal injury that may be precipitated by the administration of intravenous glucose before thiamine supplementation. On autopsy, typical findings in acute WE include vascular congestion, microglial proliferation, and petechial haemorrhage. In chronic disease, there is evidence of neuronal loss, most notably in the medial thalamus. Several other histological findings are typical of the syndrome.

Answer 64

Beriberi refers to two classic syndromes known as ‘dry’ and ‘wet’ that result from thiamine deficiency.

Answer 65

Dry beriberi: symmetrical motor and sensory peripheral neuropathy Wet beriberi: causes a high-output cardiac failure (fluid overload, cardiomyopathy, tachycardia, warm extremities) due to peripheral vasodilatation from a build-up of pyruvate and lactate

Answer 66

Lateral rectus palsy (CN VI palsy) Conjugate gaze palsies: inability to move both eyes in a single horizontal Nystagmus

Answer 67

KS is characterised by profound memory defects. Interestingly, long-term memory is relatively preserved in the condition. Memory deficit: anterograde and retrograde Confabulation: stories made up to fill gaps in memory Poor insight: unaware of their illness Global cognitive dysfunction: seen in some patients. Significant impairment in mental function with the development of dementia

Answer 68

Diagnostic criteria proposed for WE. Based on the presence of ≥2 of the following criteria in patients with chronic alcoholism: Dietary deficiency Oculomotor abnormalities Cerebellar dysfunction Altered mental status or mild memory impairment

Answer 69

No specific blood test is useful for the diagnosis of Wernicke-Korsakoff syndrome. Thiamine deficiency can be detected by performing erythrocyte thiamine transketolase activity before and after the addition of thiamine, but this test is not routinely available. Neuroimaging (e.g. CT/MRI) is commonly performed in patients with Wernicke-Korsakoff syndrome to exclude an alternative cause of confusion. A number of typical findings can be identified on imaging in both conditions

Answer 70

Permanent horizontal nystagmus Inability to walk Deficits in learning and memory Korsakoff syndrome

Answer 71

Dilated ventricles disproportionate to cerebral atrophy

Answer 72

Common peroneal nerve lesion can cause weakness of foot dorsiflexion and foot eversion Weakness of ankle dorsiflexion and of the extensor hallucis longus associated with loss of sensation on the lateral aspect of the lower leg

Answer 73

Fecal impaction Urinary retention

Answer 74

Brown-Séquard syndrome is a rare spinal disorder that results from an injury to one side of the spinal cord resulting in hemisection of the cord. The damage to the corticospinal tract, spinothalamic tract and dorsal columns, results in ipsilateral upper motor neurone signs, contralateral spinothalamic signs, and ipsilateral dorsal column signs respectively.

Answer 75

CNV1 palsy

Answer 76

in the dorsal column

Answer 77

lesion of optic chiasm upper quadrant defect > lower quadrant defect = inferior chiasmal compression, commonly a pituitary tumour lower quadrant defect > upper quadrant defect = superior chiasmal compression, commonly a craniopharyngioma

Answer 78

Hoffmans sign is elicited by flicking the distal phalaynx of the middle finger to cause momentary flexion. A positive result is exaggerated flexion of the terminal phalanyx of the thumb UMN sign

Answer 79

head, arm, trunk = central lesion: stroke, syringomyelia just face = pre-ganglionic lesion: Pancoast's, cervical rib absent = post-ganglionic lesion: carotid artery