Neuro Flashcards

Question

What are the Ix conducted in ?cerebral palsy

Answer 1

* Children with high-risk factors for brain damage (e.g. significant prematurity, delivery complications) should have a **formal standardised assessment of general movements** * Specialised assessment → performed by trained therapist or clinician * **Clinical diagnosis** (by specialist) * **MRI** * Not required for diagnosis but every child should have one * May help to identify cause of CP, direct further Ix and support explanations to parents * **Other Ix depend on likely cause**, e.g. genetic testing, coagulation studies, metabolic screen

Answer 2

Tx is individually tailored for each patient: 1. Educate and assist parents 2. MDT approach 1. Occupational therapy, physiotherapy and speech therapy is the mainstay of management 3. Medical management 4. ~ Surgery

Answer 3

* Give **details of diagnosis** **ASAP** * **Difficult to give prognosis during infancy** until pattern/progress has become cleared over months/years * **Assist in helping child to achieve:** * developmental milestones * feeding skills * communication

Answer 4

* **Paediatrician** → assessment, diagnosis, medical management * **Specialist health visitor** → coordinate MDT and multi-agency care, advice on play, local authority schemes * **Physiotherapist** → orthoses (braces, splints) * **Dietician** (may need NG tubes etc.) * **Occupational therapist** → ADLs, housing adaptation * **SALT** → feeding, language, speech * **Psychologist** → counselling and support for parents * **Social worker/social services** → advice on benefits, day nursery placements, advocate for child/family * **Education** → special schools if necessary * **Charities**, e.g. Scope (support, advice) ## Footnote **_Careful planning for transfer to adult services_**

Answer 5

* **Diazepam** or **botulinum** **injections** for spasticity * **Carbidopa/levodopa** for dystonia * **Glycopyrronium bromide** to reduce saliva production * **Anticonvulsants** for seizures

Answer 6

* May be needed to **correct soft tissue/bony deformities**

Answer 7

* Feeding difficulties, aspiration pneumonia * Microcephaly, hydrocephalus * Poor growth, failure to thrive * Vision and hearing problems * Epilepsy * Behavioural problems * Unemployment, inability to live independently, decreased educational levels * Adults have increased risk of stroke, COPD, CVD (probably due to decreased activity) What are the possible complications of cerebral palsy

Answer 8

Prognosis is variable → depends on severity * Most people have reasonably normal life expectancy (around 10yrs less unless very severe)

Answer 9

**Clinical manifestation of a brain injury occurring after a hypoxic-ischaemic event** in the prenatal, intrapartum or postnatal period * *hypoxic-ischaemic event → brain injury → clinical manifestation*

Answer 10

Due to failure of oxygenation across the placenta, umbilicus or postnatal respiratory depression → cardiorespiratory depression * Leads to hypoxaemia, hypercarbia and respiratory acidosis * Low cardiac output → decreased tissue perfusion, ischaemia and metabolic acidosis * This causes hypoxic-ischaemic injury to the brain and multi-organ dysfunction * Neurological damage may be *immediate* (from primary neuronal death) or *delayed* (reperfusion injury causing secondary neuronal death) * The neonatal condition is called hypoxic-ischaemic encephalopathy (HIE)

Answer 11

_Maternal:_ * **PLACENTA:** Failure of _placental gas exchange_ * *excessive uterine contractions, placental abruption, uterine rupture* * **PLACENTA:** Inadequate _maternal placental perfusion_ * *hypo or hypertension* * **UMBILICAL CORD:** Interruption of _umbilical blood flow_ * *cord compression, cord prolapse* _Foetal:_ * **Failure of cardiorespiratory adaptation at birth**

Answer 12

**_NO_** ## Footnote 4/1000 live-born term infants develop HIE 0.3/1000 have significant neurologic disability

Answer 13

May present immediately or up to 48hrs later * Poor APGAR scores * Need for neonatal resuscitation * Graded according to severity (Sarnat staging)

Answer 14

* method to assess the health of newborn babies immediately after birth * determined by evaluating the newborn baby on 5 criteria: * Appearance * Pulse * Grimace * Activity * Respiration * scored on scale from 0-2 → add up scores → final score ranges from 0-10

Answer 15

* normal, primitive reflex * involuntary protective motor response against abrupt disruption of body balance or extremely sudden stimulation * Elicited by pulling up on the infant's arms while in a supine position and letting go of the arms causing the sensation of falling Normal reflex = Initial phase: 1. abduction of upper extremities 2. extension of arms 3. fingers extend 4. slight extension of the neck and spine Second phase: 1. arms adduct 2. hands come to front of body 3. hands return to infant's side. * begins to disappear by 12 weeks with complete disappearance by six months

Answer 16

* **APGAR scores** * **Bloods:** * FBC, U&Es, TFTs, clotting screen * Metabolic screen * **aEEG** (amplitude-integrated electroencephalogram) * To detect abnormal background brain activity (to confirm early encephalopathy) or identify seizures * **MRI brain** * Identifies PVL, stroke, haemorrhage

Answer 17

Initial management: * **ABCDE approach, NICU** * **Mild hypothermia** * Wrap in cooling blanket → cool to rectal temperature of 33⁰C for 72hrs * Reduces secondary brain injury if started within 6hrs of birth * **Respiratory support** if needed * **Fluid restriction** (due to transient renal impairment), **volume and inotropes** for hypotension * **Treat seizures** * **Correct electrolyte imbalances**

Answer 18

Complications and prognosis depend on severity * **Mild**: complete recovery * **Moderate** **but clinical recovery by 2wks**: good prognosis * **Moderate** **but clinical abnormalities at 2wks**: full recovery is unlikely * **Severe**: 30-40% mortality, 80% neurodisability (e.g. cerebral palsy, epilepsy, infantile spasms)

Answer 19

* A **seizure** occurring in **febrile children** * between the ages of **6 months and 6yrs** * **who do not have:** * an intracranial infection, * metabolic disturbance or * history of afebrile seizures

Answer 20

Pathophysiology is unknown but likely to be due to an **immature/hypersensitive hypothalamus** * Febrile seizures are **dependent on a threshold temperature** (which varies between individuals) * **Threshold temperature increases with age** → older children have higher threshold so lower risk **Seizure** usually occurs **early in a viral infection (when temperature is rising rapidly)**

Answer 21

* simple * complex * status epilecticus

Answer 22

* **Simple febrile seizure** (most common): * generalised tonic-clonic activity * without focal features, * for \<10mins, * without a recurrence in the subsequent 24hrs and * resolving spontaneously * **Complex febrile seizure**: * focal features, * \>10-15mins, or * recurrent within 24hrs or within the same illness * **Febrile status epilepticus**: * duration \>30mins

Answer 23

* FHx, * fever

Answer 24

* FHx, * fever

Answer 25

* 3% children between 6 months – 6yrs * Peak incidence at 18 months

Answer 26

* **Febrile illness** → usually T 38.3⁰C or above (sometimes lower) * Usually **generalised tonic-clonic seizure** * Usually last \<15mins * Consciousness is recovered quickly, within 30 mins * Usually no sequelae (normal post-ictal neuro exam)

Answer 27

* **Clinical diagnosis** * **Focus on the cause of the fever** → usually viral but consider bacterial (incl meningitis) * Infection screen may be necessary

Answer 28

_Acute seizure/prolonged seizure:_ * **ABCDE approach** * Buccal **midazolam/**rectal **diazepam** _Supportive management:_ * **Antipyretics** (paracetamol or ibuprofen) * Reassure parents, give advice sheets

Answer 29

* **Subsequent epilepsy** * Simple febrile seizures have 1-2% risk (similar to all children) * Complex have up to 12% risk of subsequent epilepsy * **Recurrence** (more likely in younger children, shorter duration of illness before seizure, lower temperature) * **Hypoxia if status epilepticus**

Answer 30

* Excellent prognosis; * grow out of them with age (unless develop epilepsy)

Answer 31

A sudden, brief loss of consciousness with loss of postural tone, from which recovery is spontaneous. Vasovagal syncope is a type of neurally-mediated reflex syncope (NMRS). AKA common faints

Answer 32

neural reflex vasodilation and/or bradycardia → symptomatic hypotension → fall in systemic arterial pressure below the minimum needed to sustain cerebral blood flow → temporary inadequacy of cerebral nutrient flow → transient LOC with syncope

Answer 33

Common → 15% of children will experience syncope by the end of adolescence

Answer 34

* previous Hx of syncopal events, * FHx of vasovagal syncope (90%)

Answer 35

* LOC _triggered_ by emotional upset, fear, and pain. Can also be triggered by dehydration, N&V, and prolonged standing. * Absence of FHx of sudden cardiac death

Answer 36

rule out cardiac diagnoses e.g. structural heart disease, long-QT syndrome, Brugada's syndrome

Answer 37

* **ECG** * **Bloods:** * **Hb** (exclude syncope caused by anaemia) * **Glucose** (exclude syncope caused by hypoglycaemia) * **Cortisol** (exclude syncope caused by adrenal insufficiency) * **Urea/creatine** (exclude syncope caused by dehydration) * **~ Echocardiogram** * If high clinical suspicion of structural heart disease * Excludes hypertrophic cardiomyopathy, aortic stenosis, poor ventricular function * **~ Tilt table test** * Used only if there is clinical suspicion of vasovagal syncope, but Hx is not convincing on its own * The first step is passive head-up tilt at 60° to 70°, during which the patient is supported by a footplate and gently applied body straps, for a period not less than 20 minutes and in some clinical laboratories for as long as 45 minutes. * Subsequently, if needed, tilt testing is repeated with a drug challenge (sublingual glyceryl trinitrate)

Answer 38

* Mainstay is **patient education** * Patients must be informed that, although reflex faints are almost never life-threatening, they tend to recur (often in clusters), and injury can result if preventive measures are not taken seriously * the need to recognise and respond to warning symptoms * avoidance of triggers such as prolonged standing, warm environments, and coping with dental and medical settings * **Techniques to abort syncopal attack: Physical counter-pressure manoeuvres (PCMs)** * Squatting, arm tensing, leg crossing, and leg crossing with tensing of the lower body muscles * **Dietary changes: increased salt & electrolyte-rich sports drinks intake**

Answer 39

* Injuries and fractures * Extradural/cerebral haemorrhage secondary to trauma Prognosis is dependent on recurrences, which are common but often occur in clusters.

Answer 40

2 distinct conditions where a child experiences a brief episode of apnoea * Blue breath-holding spells (aka expiratory apnoea syncope) Reflex asystolic syncope (aka reflex anoxic seizures)

Answer 41

**Blue breath-holding spells (most common):** * Occur during vigorous crying (that may be triggered by pain, frustration, anger, fear) * Mechanism unclear, but includes centrally-mediated reduced respiratory effort and bradycardia **Reflex anoxic seizures:** * Triggered by a sudden unexpected fright or pain, e.g. a fall with a minor head injury, cold foods (e.g. ice cream) * Not caused by the injury itself (but by the fright) * Caused by bradycardia and then asytole for 5-30s due to vagal nerve stimulation * After 5s of no heartbeat the child starts to lose consciousness; by 30s the heart starts again

Answer 42

Common à 1 in 20 children Usually start between 6-18 months of age

Answer 43

**Blue breath-holding spells:** * Child cries vigorously * Then becomes silent and holds their breath in expiration (unable to take a breath) * They go blue (cyanosis) * Sometimes children briefly lose consciousness but rapidly recover fully (\<1min) * Many have brief tonic-clonic jerks or opisthotonos * Child may be tired for a few hours after **Reflex anoxic seizures:** * Sudden fright/pain * Child opens their mouth as if they are going to cry, turns pale and loses consciousness * Tonic-clonic jerks and opisthotonos; may go limp (due to cerebral hypoxia) * Lasts \<1min * Child may be sleepy/confused for a few hours after

Answer 44

* ECG * To exclude cardiac pathology * In blue breath-holding spell during the event may show initial tachycardia followed by bradycardia * In reflex atonic seizures ECG during the event shows asystole * FBC (can be associated with IDA)

Answer 45

Parental education * Reassurance; explain they are involuntary * Emphasis on consistency and not reinforcing child’s behaviour after attack * Behaviour modification therapy with distraction may help Child should lie flat during attacks to aid cerebral perfusion

Answer 46

Attacks resolve spontaneously and are benign; usually stop by 5-6yo

Answer 47

Bleeding into (or around) the brain’s ventricles, which usually occurs in premature infants

Answer 48

Usually occur in the germinal matrix (tissue located adjacent to the lateral ventricles) * The vessels in the germinal matrix are thin-walled and fragile, so susceptible to damage from fluctuations in cerebral blood flow * The germinal matrix involutes by week 36 (so term infants are not affected) * Haemorrhage impairs blood flow to the migrating neuroblasts à impaired brain development * Large haemorrhages (extending into the ventricles) impair the drainage and reabsorption of CSF à may progress to hydrocephalus Periventricular white matter brain injury may occur following ischaemia or infarction (even in the absence of haemorrhage) à this is periventricular leukomalacia when there are bilateral multiple cysts

Answer 49

* Grade I: germinal matrix haemorrhage * Bleeding confined to germinal matrix/subependymal region * Bleed occupies \<10% of ventricle * Grade II: intraventricular blood without ventricular dilation (most common – 40%) * Bleed fills 10-50% of ventricle * Grade III: intraventricular blood with ventricular dilation * Dilated ventricles which are \>50% full of blood * Grave IV: parenchymal involvement of haemorrhage Aka periventricular venous infarction

Answer 50

* prematurity (main one), * perinatal asphyxia, * severe RDS, * hypoxia, * pneumothorax, * sepsis, * hypotension, * hypertension

Answer 51

Most common in low BW infants: 40% if \<1500g, 50% if \<1000g Uncommon in term infants (but occasionally seen in trauma/asphyxia) Highest incidence in first 72hrs of life: 60% within 24hrs, 85% within 72hrs

Answer 52

* May be asymptomatic (esp grade I/II) or alternating symptomatic and asymptomatic periods * Poor tone * Apnoea * Lethargy, sleepiness * Seizures, coma * Diminished/absent primitive reflexes * Bulging fontanelle (in severe IVH)

Answer 53

* Bloods: * FBC, clotting (may have reduced Hb which fails to improve on transfusion) * ABG (metabolic acidosis) * Cranial USS * For diagnosis and classification * Periventricular leukomalacia is difficult to detect à initially there may be an echo-dense area or ‘flare’ within the brain parenchyma * 50% infants who go onto have cerebral palsy have normal cranial USS (false negatives) * MRI * Further assessment of brain injury

Answer 54

Prevention and screening: * Antenatal glucocorticoids prior to preterm delivery à reduce incidence and severity of RDS (so reduce IVH) * All newborn babies should be given vitamin K * Routine USS or all infants \<32wks in 1^st and 2^nd weeks of life Initial management: * Correct anaemia, acidosis and hypotension * Packed RBCs or FFP * Sodium bicarbonate infusion for metabolic acidosis * Ventilatory support if needed * Anticonvulsants for seizures * Mannitol for raised ICP * Acetazolamide can be used to decrease CSF production à limits late or rapidly progressive hydrocephalus Post-haemorrhagic hydrocephalus: * Symptomatic relief by removal of CSF (LP or ventricular tap) * Ventriculoperitoneal shunt (definitive treatment) Long-term management: * E.g. for neurodevelopmental impairment, seizures, hydrocephalus

Answer 55

Complications: * Hydrocephalus (15%) * Neurological complications: seizures, developmental delay, cerebral palsy Prognosis depends on grade * Grade I and II: rarely have harmful complications (as they originate in germinal matrix, which disappears) * Grade III: neurological impairment in 45% * Grade IV: neurological impairment in 80%; 50% mortality

Answer 56

Excess CSF in the cerebral ventricles

Answer 57

There is accumulation of cerebrospinal fluid in the brain * Increased CSF leads to ventricular dilatation, and subsequently permeates through the ependymal lining into the periventricular white matter * This leads to raised ICP and white matter damage * In infants, there is initial compensation for raised ICP from open fontanelles * Arrested hydrocephalus occurs if the ICP returns to normal, despite the ventricles remaining dilated * In infants, normal development resumes but any pre-existing damage remains

Answer 58

* **Obstructive/non-communicating:** * The flow of CSF is obstructed within the ventricles, or between the ventricles and subarachnoid space * Causes: * Aqueductal stenosis or atresia (most common cause of congenital hydrocephalus in infants) * Obstruction of the 4^th ventricle: Dandy-Walker syndrome – associated with cerebellar hypoplasia) * Obstruction due to intracranial mass: tumours of the posterior fossa (medulloblastoma, astrocytoma, ependymoma), haematomas, vein of Galen aneurysm * **Communicating**: * There is communication between the ventricles and subarachnoid space, but there is disruption in the flow of CSF in the surface pathways * Causes: * Chiari malformations (herniation of the cerebellar tonsils through the foramen magnum, frequently associated with neural tube defects) * Encephalocoele (protrusion of cerebral tissue through midline cranial defect in frontal or occipital regions) * Meningeal adhesions: secondary to inflammation (meningitis) or haemorrhage (IVH or SAH) * Increased CSF production (rare): choroid plexus papilloma * **Congenital hydrocephalus** is when it is present at birth (usually obstructive – associated with malformations); acquired hydrocephalus develops later (e.g. due to brain tumours, meningitis)

Answer 59

Congenital hydrocephalus affects 3/1000 live births; related to other defects

Answer 60

* Infants: * Presentation depends on speed of onset * Acute: irritability, vomiting, impaired consciousness * Gradual: failure to thrive, developmental delays, poor head control * On examination: * Disproportionately large head circumference (because skull sutures not yet fused) * Separation of skull sutures * Bulging anterior fontanelle * Setting sun sign (eyes deviate downwards, upper lids retracted and white sclerae visible above iris) * Older children: * Presentation depends on speed of onset: * Acute: headache, vomiting, altered mental state * Gradual: unsteady gait (due to spasticity in legs), headache * On examination: * Papilloedema * Setting sun sign * Large head (in gradual) * Unilateral or bilateral CNVI palsy (due to raised ICP)

Answer 61

* Can be diagnosed on antenatal USS screening or, in preterm infants, on routine cranial USS * For suspected hydrocephalus: * Cranial USS (in infants) or CT head (in children) * For initial assessment * CT with or without contrast is considered adequate * Dilation of the ventricular system occurs proximal to the site of obstruction * E.g. dilated lateral and 3^rd ventricle: aqueduct stenosis * Generalised dilatation: communicating hydrocephalus * MRI * Shows greater detail; contrast shows flow of CSF * Monitor head circumference and plot on centile chart

Answer 62

Supportive management: * MDT approach and long-term follow-up * LP: for symptomatic relief in acute deterioration * Medication, e.g. furosemide: short-term relief until surgery Surgery: * Ventriculoperitoneal shunt * Mainstay of management * Drains CSF through a valve from the ventricle to the peritoneum (or R atrium)

Answer 63

Complications: * Shunt complications: obstruction, infection (esp. S. epidermidis), over-drainage (causing low-pressure headaches) * Long-term sequelae: * Developmental delay, learning difficulties * Epilepsy * Precocious puberty Most cases have poor prognosis (as ventricles enlarge and continue to compress brain matter) * Better prognosis with early treatment (before irreversible brain damage) or if due to a temporary cause (e.g. meningitis)

Answer 64

Bleed inside the extradural, subdural or subarachnoid space

Answer 65

Extradural: * Direct head trauma causing arterial or venous bleeding, usually of the middle meningeal artery over the temporal bone Subdural: * Tearing of veins between the arachnoid and pia mater causes a chronic subdural; acute subdural may occur in neonates by rupture of the vein of Galen * Due to birth trauma (e.g. forceps delivery), high fall, NAI caused by shaking Subarachnoid (rare in children): * Due to ruptured berry aneurysm or arteriovenous malformation * Berry aneurysms arise because of haemodynamic stress in intracranial arteries that are susceptible, e.g. Ehlers-Danlos syndrome, Marfan syndrome

Answer 66

Extradural and subdural are most common in young infants M\>F (esp for extradural)

Answer 67

* Signs of raised ICP (in all types) * Early signs: nausea, vomiting, confusion, drowsiness * Late signs: Cushing response (increased BP, decreased HR), ipsilateral CNIII palsy, papilledema, coma * Extradural: * Hx of trauma (may have lucid interval after), signs of trauma * Severe headache * Acute subdural: * Shock, seizures, coma * Chronic subdural: * Macrocephaly * Failure to thrive, developmental delay * Subarachnoid: * Sudden onset severe occipital headache * Neck stiffness, photophobia

Answer 68

* **Urgent CT** * Indications for CT after head injury in children: * Witnessed LOC or amnesia lasting \>5mins * Abnormal drowsiness (reduced GCS) * 3 or more discrete episodes of vomiting * Suspicion of NAI * Post-traumatic seizure (but no Hx of epilepsy) * Suspicion of skull injury or tense fontanelle * Signs of basal skull fracture (Battle’s sign, panda eyes, CSF leak from ears/nose) * Focal neurological deficit * \<1yo and bruise/swelling/laceration \>5cm on head * Dangerous mechanism of injury * **Consider**: * **Clotting studies** * **Angiography** (aneurysms/AV malformation in SAH)

Answer 69

Initial management: * ABCDE approach * Cervical spine immobilisation (if traumatic mechanism) * Ventilatory support and fluids/blood transfusion if shocked * Treatment of raised ICP: 30% head of bed elevation, mannitol, hypertonic saline Surgery: * Evacuation of haematoma * Correction of AV malformation/aneurysm (in SAH)

Answer 70

Complications: * Hydrocephalus * Uncal/central herniation due to raised ICP * Cerebral ischaemia High mortality but prognosis improved with early intervention

Answer 71

A seizure is a transient occurrence of signs/symptoms due to abnormal activity in the brain * The term ‘seizures’ includes epileptic and non-epileptic

Answer 72

* The nature of the underlying electrical activity in the brain determines whether a seizure is epileptic or not * They are due to excessive and hypersynchronous electrical activity, in neural networks or in all or part of the cerebral cortex * Can be difficult to distinguish clinically between epileptic and non-epileptic * Not all seizures mean the child has epilepsy!

Answer 73

* A convulsion is a seizure (epileptic or non-epileptic) with motor components * E.g. stiff (tonic), massive jerk (myoclonic), jerking (clonic) Not seen in all seizures, e.g. absence seizures, some focal epileptic seizures, epileptic atonic seizure (drop attack

Answer 74

* When epileptic seizures are provoked by an acute brain injury * This is not epilepsy, even if recurrent

Answer 75

Seizures in newborns are very subtle * They do not have tonic-clonic seizures because neurons are not myelinated à transmission is not fast enough * Can have seizures that are just limited to colour change

Answer 76

* The longer the seizure duration, the worse the outcome and the more difficult the treatment à must terminate ASAP * After immediate primary assessment and resuscitation (ABCDE approach), the aim of management is to stop the seizure by treating any reversible causes (e.g. hypoglycaemia, electrolyte disturbances) * The aim is to prevent any seizure which is prolonged (i.e. lasts \>5mins) from developing into status epilepticus * The diagram shows management protocol for status epilepticus

Answer 77

2 or more epileptic seizures, unprovoked by an immediately identifiable cause * Or diagnosis of an epilepsy syndrome

Answer 78

Usually ‘genetic’ (i.e. idiopathic) with complex inheritance * Can also be caused by structural or metabolic damage (see photo)

Answer 79

* **Generalised**: * Discharge arises from both hemispheres à bilaterally synchronous, symmetrical * Includes **absence, myoclonic, tonic, tonic-clonic, atonic** * **Focal**: * Originate from a relatively small group of dysfunctional neurons in one of the cerebral hemispheres * Manifestations depend on the part of the brain where the discharge originates or moves to * **Frontal** (involve motor or pre-motor cortex), **temporal, occipital, parietal seizures** * Can be difficult to tell whether a seizure is generalised or focal, esp in \<5yo

Answer 80

* FHx, * head trauma, * HIE, * cerebral malformations, * neurocutaneous syndromes (e.g. TS)

Answer 81

1% children Different types of epilepsy present at different times (see signs and symptoms)

Answer 82

* **LOC** * **Absence seizures:** * Short episode (\<20s) where child stares or binks, with no awareness of surroundings * May present as ‘day dreaming’ in school * Abrupt onset and termination; no aura or postictal phase * Myoclonic seizures: * Brief, often repetitive, jerking movements of limbs, neck or trunk * If they evolve into rhythmic jerking movements, classified as a clonic seizure * **Tonic seizure:** * Sudden increase in tone (neck, trunk, limbs) à extension or flexion * **Generalised tonic-clonic seizure (GTCS):** * Rhythmic contraction of muscle groups (jerking) followed by tonic phase * Irregular breathing, may become cyanosed, accumulation of saliva in mouth * Tongue-biting, urinary incontinence * Postictal phase (deep sleep, drowsiness) for hours afterwards * **Atonic seizures:** * Brief loss of postural tone à sudden fall or drop of head * Usually associated with significant neurological abnormalities

Answer 83

* **Simple partial seizures**: seizure with preservation of consciousness * **Complex partial seizures**: similar to simple, but impaired consciousness and postictal phase * **Partial** **seizures** with secondary generalisation: focal seizure followed by **tonic-clonic seizure** * May cause an aura (sensory symptoms) before tonic-clonic * Symptoms depend on area of the brain affected: * **Frontal seizure**: motor phenomena * E.g. clonic movements, Jacksonian march * **Temporal lobe seizure**: auditory, smell or taste phenomena * Also automatisms (lip-smacking, plucking at clothing), de-ja vu * **Occipital seizure**: visual phenomena * E.g. hallucinations, loss of vision * **Parietal lobe seizure**: contralateral altered sensation * E.g. unpleasant sensation when touched (dysaethesia), distorted body image

Answer 84

* **Infantile spasms** (see separate topic) * **Lennox-Gastaut syndrome:** * Age of onset: 1-3yo * Multiple seizure types (atonic, absence, tonic), developmental regression, learning disability * Poor prognosis; often resistant to treatment * **Childhood absence epilepsy:** * Age of onset: 4-12yo * Multiple absence seizures, may be triggered by hyperventilation * Child has no recall * 80% remission in adolescence; may evolve into juvenile absence or myoclonic epilepsy * **Benign Rolandic epilepsy** (benign epilepsy with centrotemporal spikes) * Age of onset: 4-10yo * Clonic seizures affecting face and upper limbs usually in sleep, may progress to GTCS * Usually remits in adolescence * **Panayiotopoulos syndrome** (early onset benign occipital epilepsy) * Age of onset: 1-5yrs * Autonomic features with vomiting and unresponsive staring in sleep, may progress to GTCS * Remits in childhood; some have specific learning difficulties * **Juvenile absence epilepsy:** * Age of onset: 10-20yrs * Absences may progress to GTCS * Remission unlikely (lifelong) but usually good treatment response * **Juvenile myoclonic epilepsy:** * Age of onset: 10-20yrs * Myoclonic seizures, GTCS and absences, usually shortly after waking * Remission unlikely (lifelong) but usually good treatment response

Answer 85

* **Thorough history with video footage if possible** * Most diagnosis is clinical, supported by EEG * **ECG** * To rule out convulsive syncope due to an arrhythmia (e.g. long QT syndrome which can be fatal) * **EEG (electroencephalogram)** * Used to support diagnosis; usually done after 2^nd seizure * If seizures are frequent then an ictal EEG can make the diagnosis * Provocation techniques can be used to induce a seizure: hyperventilation, photic stimulation, sleep withdrawal * Different epilepsy syndromes have characteristic EEGs * Infantile spasms: hypsarrhythmia * Lennox-gastaut syndrome: slow generalised spike and wave (1-3Hz) * Childhood absence epilepsy: generalised spike and wave (3-4Hz) discharges, bilaterally synchronous during and sometimes in between absences * Benign Rolandic epilepsy: focal sharp waves from Rolandic area * Panayiotopoulos syndrome: posterior and occipital waves when eyes are shut * **MRI** * To assess underlying structural abnormalities * Particularly used if develop epilepsy \<2yo or adult, suggestion of focal onset (unless a benign focal epilepsy is suggested) or seizures continue despite 1^st-line medication * **Metabolic investigations** * If there is developmental arrest or regression, or if seizures are related to feeds or fasting

Answer 86

MDT approach * Specialist epilepsy nurse gives education and advice * Education and advice: * Aim is to give the child the most confidence and independence as possible * Avoid precipitating factors, e.g. alcohol, sleep deprivation, flashing lights * Supervision in swimming pools or deep baths * Driving is only allowed if free of seizures for 1yr * Discuss teratogenicity in adolescents and need for effective contraception * Interactions with oral/hormonal contraceptives * All women on AEDs should have 5mg folic acid before pregnancy * Avoid valproate in girls and women * Follow-up at least yearly Antiepileptic drug (AED) therapy: * Principles: * Not all children with epilepsy need AED therapy * Base decision on seizure type, frequency and consequences of the seizures and SEs of AED * E.g. Rolandic epilepsy is not usually treated * Choose an appropriate AED for the seizure (i.e. carbamazepine can make absence and myoclonic seizures worse) * Monotherapy at the minimum possible dose is ideal (but sometimes more than one AED may be needed) * All AEDs have potential side-effects à should be discussed with child and parent * AED levels are not measured routinely but may measured to check concordance or if considering dose increase * Children with prolonged seizures (\>5min) are given rescue therapy to keep with them (buccal midazolam) * AED therapy may be discontinued after 2yrs free of seizures * Continued indefinitely in juvenile absence or myoclonic epilepsy (as they do not remit) * Doses should be started and tapered off slowly, by an epilepsy specialist * 1^st line choices of AED: * Generalised tonic-clonic seizures: valproate or lamotrigine * Absence seizures: valproate or ethosuximide * Exacerbated by carbamazepine * Myoclonic seizures: valproate, levetiracetam or topiramate * Exacerbated by carbamazepine and lamotrigine * Tonic or atonic seizures: valproate or lamotrigine * Focal seizures: carbamazepine or lamotrigine Other treatment options (considered in drug-resistant epilepsy): * Ketogenic (low carb, fat-based) diets * Vagal nerve stimulation * Epilepsy surgery

Answer 87

Complications: * Status epilepticus * Epileptic seizure lasting \>30mins or repeated for 30mins without recovery of consciousness * See ‘seizures’ for management * Injury due to seizure * Sudden unexplained death in epilepsy (SUDEP) * SEs of AEDs * Valproate: teratogenic; idiosyncratic liver failure; carbamazepine: hyponatraemia, enzyme induction; lamotrigine: rash, insomnia, ataxia; levetiracetam: irritability * Developmental delay * Poor school performance, poor employment outcomes Prognosis varies with type of epilepsy 2-3x higher mortality rate than general population

Answer 88

An epilepsy syndrome typically presenting in infancy Infantile spasms are the characteristic seizure type of West’s syndrome (infantile spasms, developmental plateau, hypsarrhythmia

Answer 89

Usually has an underlying neurological cause * Prenatal: CNS malformations, chromosomal abnormalities, neurocutaneous syndromes (TS), HIE * Perinatal: HIE, hypoglycaemia * Postnatal: intracranial infections, HIE, brain tumours

Answer 90

Rare → 1/3000 Age of onset is typically from 1 month – 1yr (usually 3-5 months)

Answer 91

* Seizures are characterised by an initial contraction phase followed by a more sustained tonic phase * Violent flexor spasms of the head, trunk and limbs, followed by extension of the arms * Last 1-2s, often multiple bursts of 20-30 * Neurodevelopmental delay or regression * Loss of previously acquired skills, esp visual and social skills

Answer 92

* **EEG** * Diagnostic * Shows hypsarrhythmia → chaotic background of slow-wave activity with sharp multifocal components * **MRI** * Look for underlying abnormalities * **Glucose, Ca, Mg, LFTs, U&Es, infection screen** (rule out other causes)

Answer 93

ACTH, vigabatrin and/or corticosteroids (e.g. prednisolone) Ketogenic diet

Answer 94

Complications: * Deterioration in social interaction * Loss of developmental skills, developmental delay * Lennox-Gastaut syndrome and other epilepsy syndromes: can evolve from infantile spasms * *Severe form of childhood epilepsy characterised by tonic and atonic seizures and atypical absence seizures* * Reduced life expectancy (depends on aetiology of spasms) **Poor prognosis** * May have good initial response to treatment but little effect on long-term outcome

Answer 95

Tumour of the brain or spinal cord

Answer 96

* Almost always primary in children (in contrast to adults) * Most are sporadic * May be associated with certain illnesses, e.g. astrocytomas in neurofibromatosis; * May be a genetic link with some; irradiation increases risk

Answer 97

* Astrocytoma (40%) * Medulloblastoma (20%) * Ependymoma (8%) * Brainstem glioma (6%) * Craniopharyngioma (4%) * Atypical teratoid/rhabdoid tumour

Answer 98

* varies from benign to highly malignant (glioblastoma multiforme)

Answer 99

* arises in the midline of the posterior fossa; * may seed through CNS via CSF → 20% have spinal mets at diagnosis

Answer 100

mostly in posterior fossa; behaves like medulloblastoma

Answer 101

* malignant tumours with very poor prognosis

Answer 102

* developmental tumour arising from the squamous remnant of the Rathke pouch; * locally invasive; * grows slowly in the suprasellar region; * good survival but long-term visual impairment

Answer 103

rare aggressive tumour that most commonly occurs in young children

Answer 104

Most common solid tumour in children Leading cause of childhood cancer deaths in UK Most childhood brain tumours are infratentorial or midline

Answer 105

* Depend on developmental age of the child and their ability to report symptoms * Often due to raised ICP but there may be focal neurological signs (depending on site of tumour) * **All ages:** * Persistent or recurrent vomiting * Problems with balance, coordination or walking * Behavioural change * Abnormal eye movements * Seizures * Abnormal head position à wry neck, head tilt, persistent stiff neck * Papilloedema (but can be a late sign and difficult to detect) * Lethargy

Answer 106

* Developmental delay/regression * Progressive increase in head circumference, separation of sutures, bulging fontanelle

Answer 107

* Persistent or recurrent headache * Blurred or double vision * Deteriorating school performance * Delayed or arrested puberty, slow growth

Answer 108

* Supratentorial – cortex: seizures, hemiplegia, focal neurological signs * Midline: bitemporal hemianopia, pituitary failure (growth failure, DI, weight gain) * Cerebellar and IVth ventricle: truncal ataxia, coordination difficulties, abnormal eye movements, * Brainstem: CN defects, pyramidal tract signs, cerebellar signs (ataxia), often no raised ICP

Answer 109

* Back pain * Peripheral weakness of arms/legs * Bladder/bowel dysfunction (depending on level of lesion)

Answer 110

* **MRI**: * For suspicion of brain tumour and persistent back pain in children * Urgent referral if CNS tumour is suspected (within 48hrs) * MRI is best (good resolution and no radiation) but sometimes CT is used (shorter, may not need sedation) * Magnetic resonance spectroscopy can be used to examine the biological activity of the tumour * **LP**: * Because some tumours can metastasise within the CSF à used for staging

Answer 111

**MDT** **approach** * Including support groups, e.g. Brain Tumour Charity * Follow-up after treatment Management is determined by tumour type, location and age of child **Surgery (usually 1^st line):** * Aimed at treating hydrocephalus, providing a tissue diagnosis and attempting maximum resection * Biopsy may be done before surgical resection is attempted * Anatomical position may mean surgery is not safe (e.g. tumours in brainstem and optic pathway) **Chemotherapy and radiotherapy:** * Use depends on tumour type * Radiotherapy is given in low doses to very localised areas (to avoid damage to normal brain) * Not used in children \<2yo (to avoid damage to developing tissue) * Chemotherapy regimens usually involve vincristine

Answer 112

Complications: * Intellectual decline → leads to educational problems * Endocrine problems (GH deficiency, thyroid hormone deficiency etc.) * Neurological disability (may be permanent) * Increased risk of 2^nd brain tumour in 10-20yrs (due to irradiation) Prognosis depends on type of tumour, but is improved by early detection and treatment 1% mortality for paediatric craniotomy

Answer 113

Tics: brief, sudden repetitive movements or sounds with no useful function

Answer 114

Tic disorder: clinical spectrum that ranges from mild, sporadic tics to Tourette’s syndrome

Answer 115

a chronic, idiopathic disorder characterised by both motor tics and vocal tics, often accompanied by psychiatric problems (such as OCD and ADHD)

Answer 116

Pathophysiology unknown; thought to be due to a disturbance in the basal ganglia → disinhibition of motor and limbic systems * May be association with viral beta-haemolytic Step infection → antibodies cross-react with neurons Tics increase with stress, anxiety and excitement, and decrease with distraction/concentration on other things * More likely to occur when inactive (watching TV, long car journeys)

Answer 117

Tic disorders may be primary or secondary * Primary (most common): idiopathic or inherited * Secondary tics may be due to: infections (encephalitis, CJD, Sydenham’s chorea), substance abuse, drugs (e.g. lamotrigine), head trauma, neurodegenerative disease Tic disorders are also classified into: * Provisional/transient tic disorders (lasting \<1yr) * Persistent/chronic tic disorders (lasting \>1yr) * Tourette’s syndrome

Answer 118

* FHx, * male, * behavioural disorders (ADHD, OCD)

Answer 119

Average age of onset is 8yo, peaks in intensity at 11yo, then improves 1 in 10 children develop a tic at some stage (most commonly around the face/head – blinking, frowning etc.) Tourette’s prevalence 1%; M\>F * Symptoms begin in early childhood, follow a waxing and waning course, early adolescence

Answer 120

* Inner urge or sensation, which is relieved by performing the tic * Can be suppressed for short periods of time (differentiates from focal seizures - can’t be controlled) * **Tics:** * Simple tics are brief movement involving a few muscle groups; complex tics are co-ordinated patterns of successive movement involving several muscle groups * **Motor tics:** * Simple: grimacing, blinking, kicking * Complex: head shaking, touching, echopraxia (imitating), copropraxia (obscene gestures) * **Phonic tics:** * Simple: sniffing, grunting, throat clearing, coughing * Complex: whistling, words/phrases, coprolalia (profanities), echolalia (repeating other’s)

Answer 121

Multiple motor and vocal tics (not necessarily concurrently) * Tics occur many times a day, every day for \>1yr * Rage attacks: explosive, unpredictable outbursts followed by immediate remorse

Answer 122

* Clinical diagnosis (usually no Ix needed, normal neuro exam etc.) * Investigate underlying cause if secondary tics are suspected * EEG if can’t differentiate between seizures and tics * Assess for concurrent behavioural problems (e.g. ADHD, OCD)

Answer 123

**Supportive:** * Reassure that tics are benign * Advise that tics may increase in stress, anxiety, excitement, and that course waxes and wanes * Notify school * Family and school should try to ignore tics **Behavioural therapies:** * Comprehensive behavioural intervention for tics (CBIT), habit-reversal training, CBT * If tics interfere with daily life **Medical treatment:** * Clonidine (a2-agonist) or atypical antipsychotic (aripiprazole or risperidone) * For severe tics interfering with daily life **Treat concurrent ADHD/OCD**

Answer 124

Complications: * Social withdrawal * Negative effects on education * Behavioural problems (ADHD, OCD), depression * Impact on QoL Transient tic disorder resolves over a few months (but may recur when stressed) Chronic tic disorder tends to improve in adulthood (again with recurrences) Tourette’s syndrome is more persistent

Answer 125

A recurrent headache that occurs with or without aura In adults it lasts for 2-48hrs and is unilateral, but in children the diagnostic criteria are broader

Answer 126

Migraine without aura accounts for 90%; migraine with aura accounts for 10% Pathophysiology is unknown * Thought to be due to cerebral neuronal hyperexcitability and cerebral blood reduction Triggers: * Late nights or early rises * Stress * Cheese, chocolate, caffeine * Menstruation and OCP

Answer 127

* **Familial hemiplegic migraine**: caused by a calcium channel defect, dominantly inherited * **Sporadic hemiplegic migraine** * **Basilar-type migraine**: vomiting with nystagmus and/or cerebellar signs * **Periodic syndromes** → often precursors of migraine: * Cyclical vomiting: recurrent episodes of vomiting; child is well inbetween * Abdominal migraine: episodic midline abdo pain * Benign paroxysmal vertigo of childhood: recurrent brief episodes of vertigo occurring without warning and resolving spontaneously

Answer 128

Common → 1 in 20 Mean age of onset is 7-11yrs; incidence increases with age * Rarely diagnosed in children \<2yrs because it is a symptom-based definition Until puberty M:F is equal; after puberty F\>M

Answer 129

* Gradual onset of headache (approx. 15mins) * May last for 1-72hrs (usually a few hrs) * Headache is usually bilateral but may be unilateral * Characteristically pulsatile and over the temporal or frontal area * Often accompanied by nausea, vomiting, abdo pain, photophobia and phonophobia * Children often lie down in a dark, quiet place * Aggravated by physical activity; relieved by sleep * Aura: * Precedes headache in migraine with aura, but aura can also occur without headache * Most commonly visual disturbances, e.g. * Negative phenomena: hemianopia, scotoma (small areas of visual loss) * Positive phenomena: fortification spectra (seeing zigzag lines) * May be sensory or motor disturbances

Answer 130

* Clinical diagnosis

Answer 131

**Rescue treatments:** * Analgesia (1^st line): * Paracetamol and NSAIDs, taken as soon as possible in attacks * Codeine phosphate if simple analgesics are ineffective (in ³12yo) * Anti-emetic, e.g. cyclizine: * In children who suffer nausea/vomiting * Take as soon as possible in attacks * Triptans (serotonin 5-HT1 agonists), e.g. sumatriptan (2^nd line) * Take as soon as possible * Intranasal; only in ³12yo * Can add ibuprofen * Physical treatments e.g. cold compresses, warm pads, topical forehead balms may help some children **Prophylactic treatments:** * Propranolol or pizotifen (1^st line) * Don’t give propranolol in asthma * Pizotifen is a 5HT2 antagonist à can cause weight gain and sleepiness, less effective than propranolol * Topiramate (2^nd line) * Na channel blocker * Only in ³12yo * Anticonvulsants (valproate, gabapentin, carbamazepine) or amitriptyline (3^rd line) * Verapamil (CCB) or indometacin (NSAID) (4^th line) **Psychosocial support:** * Needed to ameliorate a particular stressor, e.g. bulling, anxiety * Relaxation, regular rest/play/sleep/water/food * Avoid triggers

Answer 132

Complications: * Impaired QoL * Negative effect on schooling Often life-long (25% stopped by 25yo; 50% stop by 50yo) Attacks are often less frequent and severe in adulthood

Answer 133

A group of inherited disorders with progressive muscle degeneration

Answer 134

All muscular dystrophies are characterised by ongoing degeneration and re-generation of muscle fibres, leading to progressive muscle weakness (with variable distribution and severity)

Answer 135

* Duchenne muscular dystrophy * Becker muscular dystrophy * Myotonic dystrophy

Answer 136

* Most common phenotype; most rapidly progressive * X-linked recessive disorder (1/3 de novo mutations) * Due to a deletion of dystrophin gene at Xp21 position à \<5% normal dystrophin levels * Dystrophin connects the cytoskeleton of a muscle fibre to the surrounding extracellular matrix through the cell membrane * Deficiency causes Ca influx into myocytes à excess free-radicals and breakdown of calcium-calmodulin complex à myofibre necrosis * Degeneration is faster than re-generation à muscle loss and replacement by adipose cells and connective tissue * The absence of dystrophin also causes effects in other cells in the body: * Brain cells: lower IQ, learning difficulties, autistic spectrum disorders * Smooth muscle cells: cardiomyopathy, prolonged intestinal transit times

Answer 137

* Allelic with Duchenne (caused by different mutations in the same gene) – X-linked recessive * Some functional dystrophin is produced (30-80% of normal) à not as severe * RFs for Duchenne and Becker are FHx and male gender

Answer 138

* Autosomal dominant inheritance * Caused by a nucleotide triplet repeat expansion – CTG in the DMPK gene on ch 19 * Clinical severity increases as the number of nucleotide triplet repeats exceeds 40 à anticipation through generations * Myotonia is delayed relaxation after sustained muscle contraction

Answer 139

Duchenne: 1 in 3000 live male births; very rare in girls Becker: 1 in 25,000 live male infants; very rare in girls Myotonic dystrophy: 1 in 10,000 live births

Answer 140

* Child appears healthy at birth; **_onset of symptoms at 1-6yo_** * **Delayed motor milestones** (average age for walking is 18m) * **Waddling gait**, mount stairs one by one, clumsier than peers, falls * ‘Climbing up body’ to stand from a seated position (**Gower’s sign**) * **Pseudohypertrophy** **of the calves** (due to replacement of muscle fibres by fat and fibrous tissue) * **Nocturnal hypoxia and language delay** (due to weakness of intercostal/facial muscles) * **Decreased muscle tone and reflexes** ## Footnote **_By 10-14yo patients are usually wheelchair-bound_**

Answer 141

* Similar features to Duchenne but **milder and slower progression** * **_Symptoms appear around 10yo_** ## Footnote **_Wheelchair-bound by late 20s_**

Answer 142

* **Newborns**: * hypotonia, * feeding difficulties, * respiratory difficulties, * talipes at birth, * reduced foetal movements in pregnancy * **Older children:** * myopathic facial appearance (expressionless, ptosis), * myotonia, * learning difficulties

Answer 143

* **Serum CK:** markedly elevated * **Genetic testing** * **EMG**: shows myopathic cause rather than neuropathic * Fast firing, short duration, polyphasic, decreased amplitude motor units * **Muscle** **biopsy**: absent/reduced dystrophin * **Lung function**: decreased vital capacity

Answer 144

**_If newborn presents with symptoms → examine the mother for myotonia_** * **Genetic testing** * **EMG**: myopathic cause (fast firing etc.) * **Muscle biopsy**: some specific glycoproteins are defective/absent * **Lung function**: decreased vital capacity

Answer 145

* **Stage 1 (ambulatory**): goals are psychological support, prevention of contractures, preservation of muscle strength with glucocorticoids * **Stage 2 (non-ambulant**): goals are maintenance of optimal nutrition and ADLs, prevention of scoliosis * **Stage 3 (ventilator-supported**): goals are inspiratory and expiratory muscle rest and support

Answer 146

* **MDT approach** → paediatricians, SALT, physio, GP, specialist nurses, occupational therapists * Review periodically at a specialist regional centre * Psychological support * Mainstream education where possible * Genetic counselling * Mobility aids and wheelchairs when needed * **Physiotherapy** * Prevent contractures with the use of splints * Strengthening exercises * **Corticosteroids (prednisolone)** * Given to preserve muscle strength, improve mobility and present scoliosis * But SEs * **Prevent cardiomyopathy** * Beta-blockers and ACEi when LVEF decreases below 40-50% * Prophylactic antibiotics; pneumococcal and influenza vaccines (when lung function falls) * **Surgery**: * Tendoachilles lengthening and scoliosis surgery if needed * **Ventilation** (over-night and then continuous when needed) * **Nutritional support** * **Ataluren** * Exon skipping drug → may allow bypass of the mutation and small amount of dystrophin production * Only available for nonsense (stop) mutation (10-15%)

Answer 147

Complications: * Loss of mobility * Limb contractures * Scoliosis * Respiratory failure * Dilated cardiomyopathy (\>15yo) * SEs of steroids * Malnutrition * Learning difficulties **_Prognosis:_** * **Duchenne**: life-expectancy late 20s (death due to resp failure or cardiomyopathy) * **Becker**: life-expectancy middle-old age * **Myotonic**: death due to cardiac arrhythmia, T2DM, early-onset dementia; usually before 50yo

Answer 148

These include: * neurofibromatosis, * tuberous sclerosis * Sturge-Weber syndrome The nervous system and skin have a common ectodermal origin → embryological disruption causes syndromes involving abnormalities to both systems → these are the neurocutaneous syndromes

Answer 149

A genetic disorder causing lesions in the skin, nervous system and skeleton

Answer 150

There are 2 types: neurofibromatosis 1 (NF-1) and neurofibromatosis 2 (NF-2) NF-1 (aka von Recklinghausen disease): * Autosomal dominant, highly-penetrant condition with variable expression; 50% arise de-novo * Caused by a mutation in the neurofibromin-1 (NF1) gene, situated at ch 17q11.2 * Arises in 50% as a de novo mutation NF-2: * Autosomal dominant; 50% arise de-novo * Caused by mutation in NF2 gene at ch 22q12.2

Answer 151

NF-1: 1 in 3000 live births NF-2: 1 in 25,000 live births (less common)

Answer 152

Symptoms usually appear in childhood or adolescence * **_For diagnosis, 2 or more of the following:_** * **6 or more café-au-lait spots \>5mm in size before puberty or \>15mm in size after puberty** * Usually the first feature * More than 1 neurofibroma (an unsightly nodular overgrowth of any nerve) * Neurofibromas appear in the course of any peripheral nerve, including cranial nerves * They may look unsightly, or cause neurological signs secondary to nerve compression * May cause visual or auditory impairment if there is compression of CN II or VIII * Can be itchy * **Axillary freckling** * **Optic glioma** → may cause visual impairment * **One Lisch node** (a harmatoma of the iris seen on slit-lamp examination) * Frequency increases with age (95% in those \>10yo) * **Bony lesions from sphenoid dysplasia** → can cause eye protrusion * **1^st degree relative with NF-1** * Cutaneous features become more evident after puberty but usually appear throughout childhood * Wide spectrum from mild to severe → skin may be completely covered with neurofibromas if severe * Megaencephaly with learning difficulties and epilepsy are sometimes seen

Answer 153

Usually presents in adolescence (lightly later than NF-1) * **Multiple schwannomas, meningiomas and ependymomas** * The predominant feature is **bilateral acoustic neuromas** * Presents with **deafness** * Sometimes causes a cerebellopontine angle syndrome with **CN VII paralysis and cerebellar ataxia** * **Juvenile cataracts** (posterior subcapsular cataracts) may precede CNS symptoms ***Cutaneous neurofibromas and café-au-lait spots are not usually a feature***

Answer 154

* Clinical diagnosis * Slit lamp examination (for Lisch nodules in NF-1) * MRI/CT/PET * To assess presence and growth of lesions * Biopsy of café-au-lait spots/neurofibromas * If diagnostic uncertainty (not routinely done) * Genetic testing to confirm diagnosis (not routinely done)

Answer 155

Management focusses on monitoring progress and intervening where necessary * Annual assessment, education about NF and its complications * Height and weight * Review visual symptoms à annual visual acuity and fundoscopy * Check skin for new neurofibromas and progression of existing ones * Can remove cutaneous neurofibromas if they catch on clothing/cause other problems * Hearing tests * Monitor for HTN * Ask about neurodevelopment à note any learning disabilities and take early action * Treat complications

Answer 156

Complications: * MEN syndromes * Phaeochromocytoma * Pulmonary hypertension * Renal artery stenosis with HTN * Rarely, the benign tumours undergo malignant change * Increased risk of brain tumours, leukaemia and other malignancies of neural crest origin * Brain tumours are more common in NF-2 * Malignant peripheral nerve sheath tumours in NF-1 (10%) Most people with NF-1 have only cutaneous signs (but very variable); slightly reduced life expectancy NF-2 has worse prognosis

Answer 157

A neurocutaneous disorder characterised by cellular hyperplasia, tissue dysplasia and multiple organ harmatomas

Answer 158

**Autosomal dominant with variable penetrance** * Caused by mutation in TSC1 (ch9) or TSC2 gene (ch16) * 89-90% patients have TSC2 mutations * Up to 70% mutations arise de novo **The only RF is FHx**

Answer 159

* Cutaneous features: * Depigmented ‘ash leaf’ shaped patches * Fluoresce under UV (Wood’s) light * Roughened skin (shagreen patches), usually over the lumbar spine * Angiofibromata (‘adenoma sebaceum’) * Butterfly distribution over the bridge of the nose and cheeks * Unusual before 3yo * Neurological features (in 50%): * Infantile spasms, epilepsy (often focal) * Developmental delay, intellectual disability (often with autism) * Other features: * Fibromata beneath nails (subungual fibromata) * Dense white areas on the retina (phakomata) from local degeneration * Rhabdomyomata of the heart * Renal angiomyolipomas, polycystic kidneys * Cysts in the lungs * Subependymal nodules and cortical tubers in the brain * May be asymptomatic * The subependymal nodules may enlarge and form subependymal giant cell astrocytomas à block the flow of CSF à hydrocephalus

Answer 160

* **Clinical diagnosis** * Ix are used to confirm the diagnosis and determine disease extent and organ involvement * **Neurodevelopmental testing** * At diagnosis, school entry and then as indicated * **BP, U&Es, Hb, urine dip** * For renal complications * **EEG (if seizures)** * **ECG** * At diagnosis, every 3-5yrs in asymptomatic patients, and as indicated * May show arrhythmias, WPW * **Echo** * May show rhabdomyomas * **Renal USS/CT/MRI** * At diagnosis and every 1-3yrs * May show angiomyolipomas or polycystic kidneys * **CT/MRI** * Performed at diagnosis and every 1-3yrs * To detect the calcified subependymal nodules and tubers * **Genetic testing** * To confirm diagnosis if uncertainty

Answer 161

MDT approach * Attention to schooling and behavioural disorders * Support for family * Annual follow-up (see Ix) Skin lesions: * Hypomelanotic macules and shagreen patches do not need treatment * Facial angiofibromas tend to increase in size/number over time à laser therapy mTOR inhibitors (everolimus) * New drug, seems promising Management of epilepsy, antihypertensives in renal disease etc etc.

Answer 162

Complications: * Chronic renal failure * Chronic respiratory failure * Learning difficulties and autistic features * Social, occupational and forensic problems; anxiety and depression * Sudden death (due to epilepsy or cardiac arrhythmia) There is a wide spectrum of severity, but many people only have cutaneous features Epilepsy has the biggest impact on life

Answer 163

A neurocutaneous syndrome marked by a distinctive port wine stain in the trigeminal nerve distribution

Answer 164

Caused by a sporadic (i.e. not inherited) mutation in the GNAQ gene in embryological development * Leads to a malformation of vascular development * Neurological deterioration is thought to be due to impaired blood flow to the brain, worsened by seizures Ophthalmic division of trigeminal nerve is always involved Severity is determined by the developmental time at which the mutation occurred

Answer 165

Rare à 1 in 50,000 live births

Answer 166

* Port wine stain (haemangiomatous facial lesion) in the distribution of the trigeminal nerve * NB not all infants with port wine stain have Sturge-Weber syndrome * Similar lesion intracranially (ipsilateral leptomeningeal angioma) * Glaucoma (50%) * In the most severe form: * Epilepsy * Intellectual disability Contralateral hemiplegia

Answer 167

**Diagnosis is made by presence of port wine stain, associated with either brain or eye involvement** * **MRI** * **MRA** (magnetic resonance angiogram) * To view blood vessels * **Transcranial Doppler USS** * Used in early assessment of vascular malformation * **EEG** (if seizures)

Answer 168

Cosmetic camouflage creams and laser treatment * For port wine stain Treat seizures * Antiepileptics * Hemispherotomy (in children presenting with intractable epilepsy in infancy)

Answer 169

Complications: * Seizures * Learning disability (due to abnormal vascular supply and seizures) * Ipsilateral glaucoma (50%) Wide spectrum of severities For children who are less severely affected, deterioration is unusual after 5yo

Neuro Flashcards

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