Neuro Flashcards
1
Q
What is a reflex anoxic seizure (RAS)?
A
A particular type of transient LOC with stiffening and/or shaking, and a rapid recovery in infants and toddlers.
- NOT epileptic or due to deliberate breath-holding.
- It is a type of severe syncope or ‘faint’, caused by a temporary loss of the blood supply to the brain
2
Q
What can reflex anoxic seizures be triggered by?
A
- Pain
- Head trauma
- Cold food (ice cream)
- Fright
- Fever
3
Q
What are the S/S of a reflex anoxic seizure?
A
Child becomes very pale and falls to floor
+/- general tonic clonic fitting
4
Q
What is febrile convulsion?
A
Seizures provoked by fever in otherwise normal children (absence of intracranial infection)
5
Q
What age do febrile convulsions typically occur?
A
Typically occur 6m-5yrs
3% of children
6
Q
What are the types of febrile convulsion?
A
Simple febrile seizure:
- Isolated, brief, generalised clonic/tonic-clonic seizure lasting <5 minutes
- Complete recovery within 1hr
- > No increased risk of epilepsy
Complex febrile seizure
- Focal seizure with focal features lasting >15 minutes
- Repeat seizure within same illness / incomplete recovery from seizure <1hr
- > Higher risk of subsequent epilepsy
Febrile status epilepticus
- Prolonged seizure or multiple short seizures without regaining consciousness in between, lasting > 30 minutes
7
Q
What are the S/S of febrile convulsion?
A
Seizure on background of fever
- Usually occur early in a viral infection as temp rises rapidly
- Respiratory distress, tachycardia, tachypnoea
- NO signs of meningitis or encephalitis
8
Q
What are the investigations for febrile convulsion?
A
Clinical diagnosis
Tests only indicated if suspicion of sepsis / meningitis / encephalitis
- Bloods (FBC, U&Es, glucose, blood culture, viral studies)
- Urine MC&S
- LP
- MRI
- EEG
9
Q
What is the management for during a seizure?
A
- Protect head from injury
- Remove harmful objects nearby
- Do not restrain or put anything in their mouth
- When seizure stops, check their airway and put them in the recovery position
10
Q
What is the management of febrile convulsion?
A
<5 minutes:
Manage at home
>5 minutes:
PR diazepam repeated once after 5mins if ongoing
OR
Single dose buccal midazolam
Call ambulance:
No drugs available / ongoing 10 minutes after first dose
11
Q
When do you admit a child with febrile convulsion?
A
- First febrile seizure
- Second seizure in child who hasn’t been assessed before
- Diagnostic uncertainty about cause of seizure
- Seizure lasted >15 mins
- Focal features during seizure
- Seizure recurred in same febrile illness (or within 24 hours)
- Incomplete recovery after 1 hour
- <18 months old
- Parents anxious and feel that they cannot cope
- Suspected cause of fever (e.g. pneumonia)
12
Q
What advice do you give to parents regarding febrile convulsion?
A
- NOT the same as epilepsy
- Many children will have another seizure
- If recurrent, teach parents how to give medications
- Continue routine immunisations
- To mx fever > do not try and cool the child, adequate fluid intake, regular paracetamol and ibuprofen, seek advice if prolonged fever
13
Q
What is epilepsy?
A
2 or more seizures unprovoked by an immediately identifiable cause
14
Q
What are the RFs for epilepsy?
A
- Genetic predisposition
- Perinatal asphyxia
- Metabolic disorders
- Trauma
- Structural CNS abnormalities
- Complex febrile seizures
15
Q
Describe the classification of seizures
A
Location:
- Focal, Generalised, Focal to bilateral, Unknown
Level of awareness:
- Aware (focal)
- Impaired awareness (focal or generalised)
- Awareness unknown (unwitnessed)
Focal onset:
- Motor (twitching, jerking, stiffening, automatisms)
- Non-motor (Cognitive, emotional, sensory)
- Focal to bilateral tonic clonic
Generalised / unknown onset:
- Motor = tonic clonic, other motor
- Non-motor = absence (brief changes in awareness +/- automatic/repeated movements)
16
Q
What are the S/S of a generalised non-motor (absence) seizure?
A
- Brief impairment of consciousness (5-10 seconds)
- Child stares or blinks / no awareness of surroundings / ‘daydreaming’ in class / reduced performance in school
- Usually undergo spontaneous remission during adolescence
17
Q
What are the S/S of a tonic-clonic seizure?
A
- Preceding aura
- Pt falls unconscious
- Tonic extension lasting a few seconds followed by clonic rhythmic movements (violent muscle contractions and shaking)
- Prolonged post-ictal phase
- Associated with tongue biting, urinary/faecal incontinence, eye-rolling
18
Q
What are the S/S of a myoclonic seizure?
A
- Sudden brief arrhythmic muscle contractions
- Often cluster within a few minutes
- If they evolve into rhythmic jerking movements > clonic
19
Q
What are the S/S of an atonic seizure?
A
- Brief loss of postural tone, often resulting in falls and injuries
- Occurs in people with significant neurological abnormalities
20
Q
What are the S/S of an clonic seizure?
A
Rhythmic, jerking movements
21
Q
What are the S/S of a tonic seizure?
A
Sudden-onset tonic extension or flexion of the head, trunk and/or extremities for several seconds
22
Q
What is status epilepticus?
A
Generalised convulsion lasting >5 mins
OR
Repeated convulsions without recovery or consciousness between
23
Q
What is Benign Rolandic Epilepsy (BRE)?
A
Most common childhood epilepsy, outgrown at end of puberty
- Seizures of face / upper limbs during sleep
- Hypersalivation
- Speech arrest
- Paraesthesia (e.g. unilateral facial droop) usually on waking up
- Age 3-12yrs
- Tx not usually given
- Starts focal e.g. dropping of one side of the face
- Becomes generalised e.g. tonic clonic seizure
- Usually caused by sleep deprivation
Typical EEG = starts focal then spreads
24
Q
What is juvenile myoclonic epilepsy?
A
An epilepsy syndrome characterized by myoclonic jerks (typically in arms and legs)
- Often occur when people first awaken in the morning
- Typical onset is around puberty / teens
- Can also have generalized tonic-clonic seizures and absence seizures
25
What is progressive myoclonic epilepsy?
- Rare group of disorders caused by variety of genetic mutations
- Combination of myoclonic and tonic-clonic
- Progressive decline in neurological function
- Pt deteriorates over time
26
What is Lennox-Gastaut Syndrome?
**Characterised by multiple seizure types including tonic, atonic , atypical absences**
- 90% moderate-severe mental handicap (developmental regression, learning disability)
- 50% have hx of infantile spasm
- 1-3yrs
27
What are the investigations for epilepsy?
- EEG
- MRI (rule out underlying pathology)
- LP (if infective cause suspected)
- ECG / Echo / lying/standing BP (exclude cardiac cause)
28
What is the pharmacological management of epilepsy?
*Not all children with epileptic seizures require antiepileptic therapy*
**Generalised** (tonic-clonic, myoclonic, absence)
= Sodium Valproate (1st line)
**Focal**
= Carbamazepine or lamotrigine (1st line)
29
Which AEDs exacerbate which seizure types?
- Carbamazepine > exacerbates absence seizures
- Lamotrigine > exacerbates myoclonic seizures
30
What are the side effects of AEDs?
**Valproate**
= Weight gain, hair loss, rare idiosyncratic liver failure
**Carbamazepine**
= Rash, neutropenia, hyponatraemia (SIADH), ataxia
**Lamotrigine**
= Severe skin rash (SJS)
31
What is the treatment for drug-resistant epilepsy?
- Ketogenic diet (low carb, fat based)
- Vagal nerve stimulation
- Surgery (epilepsy with well-localised structural cause)
32
What advice would you give parents regarding epilepsy?
- Avoid precipitating factors e.g. alcohol, sleep deprivation, drugs
- Supervision in swimming pools / baths
- Information on driving and insurance
- Advice on SUDEP
- Side effects of drugs
- Video future seizure
33
What is the management of status epilepticus?
**EMERGENCY, ABCDE approach, requiring hospital treatment**
**1.** Secure airway + high-flow O2
**2.** Immediate IV access = IV lorazepam
No immediate IV access = rectal diazepam or buccal midazolam
**3.** No response in in 10 mins = second dose of IV lorazepam
**4.** Seizures continue, SENIOR HELP NEEDED + ANAESTHETIST = phenytoin infusion (monitor ECG and BP)
**5.** Refractory = general anaesthesia (thiopentone)
**6.** +/- dexamethasone (if vasculitis / cerebral oedema possible)
34
What are infantile spasms?
Brief spasms beginning in first few months of life
35
What is West Syndrome?
**1.** Infantile spasms
**2.** Specific age of onset (3-8m)
**3.** Hypsarrhythmia (EEG)
36
What are the causes of infantile spasms?
- Symptomatic (any disorder causing brain damage)
- Genetic syndromes
- Prenatal conditions
- Congenital infections
- Hypoxic/ischaemic/traumatic brain damage
- Idiopathic
37
What are the S/S of infantile spasms?
**Sudden, rapid, tonic contractions of trunk and limb muscles with gradual relaxation over 0.5-2 seconds**
- Occurs in clusters, repeat up to 50 times
- Usually associated with waking or before sleeping
- **Salaam attacks** = Flexion of head, trunk and limbs then extension of arms (head goes down, arms go in air)
**Also**
- Psychomotor delay
- Hyperpigmented skin lesions
- Growth restriction
- Progressive mental handicap / intellectual disability
38
What are the investigations for infantile spasms?
**EEG**
= hypsarrhythmia (disordered activity in brain)
39
What is the management of infantile spasms?
- Urgent referral to paediatric neurologist for assessment
- **Vigabatrin + prednisolone**
- Regular reviews
40
What is the prognosis of infantile spasms?
Poor prognosis (1/3 die before 3yrs)
41
What is a vasovagal syncope?
Temporary LOC due to the sudden decline of blood flow to the brain (‘fainting’)
42
What are the causes of a vasovagal?
**Emotional** = fear, pain, shock, sudden sounds or sights
**Orthostatic** = prolonged standing, crowds, hot
43
What are the S/S of a vasovagal?
- Brief LOC with spontaneous recovery
- No signs of seizure activity
- Link to trigger
- May experience ‘presyncope’ (i.e. feeling that they are about to faint)
44
What are the investigations for a vasovagal?
- **Lying and standing BP** (+ ECG if indicated > ?cardiac issue)
- **FBC** (rule out anaemia +/- bleeding)
- **Tilt table test**
45
What is the management of vasovagals?
1. Educate child and parents
2. Avoid triggers
3. Lie down flat to avoid fainting
46
When must you CT a child?
**Head injury + 1 or more of the following = CT <1hr**
- NAI
- Post-traumatic seizure (no epilepsy hx)
- GCS <14
- 2hrs post injury GCS <15
- Suspected open/depressed skull fracture / tense fontanelle
- Basal skull fracture signs > racoon eyes, battle signs, rhinorrhoea
- Focal neurological deficit
- Child <1yr and bruise, swelling or laceration >5cm on the head
**Head injury + 2 or more of the following = CT scan <1hr**
**Head injury + 1 of the following = observe for minimum of 4hrs**
- LOC >5 minutes
- Abnormal drowsiness
- 3 or more vomits
- Dangerous mechanism / high-impact injury
- Amnesia >5 minutes (anterograde and retrograde)
47
What are the causes of an extradural?
Usually direct head trauma causing arterial or venous bleeding
Most typically ‘low-impact’ trauma (e.g. blow to head or fall)
48
What are the S/S of an extradural?
**Pt initially loses, briefly regains, and then again loses consciousness after low-impact head injury**
- Lucid interval followed by deterioration of consciousness and seizures
- Severe headache
- Dilatation of ipsilateral pupil
- Paresis of contralateral limb
- Shock
- Battle sign / racoon eyes
49
What are the investigations for an extradural?
**CT-head = LEMON**
Biconvex (lentiform), hyperdense collection around the surface of the brain
50
What is the management of an extradural / subdural?
**Initial management:**
1. **Supportive care** = ventilatory support, blood transfusion if shocked, fluid resus to correct hypovolaemia
2. **Cervical spine immobilisation** = if traumatic mechanism of injury
3. **Tx of raised ICP** = 30% head of bed elevation, mannitol, hypertonic saline
**Definitive tx** = craniotomy and surgical evacuation of haematoma with coagulation at bleeding site
51
What are the causes of a subdural?
= Mainly in young infants
- Birth trauma / forceps delivery
- LBW infants
- High falls
- NAI caused by shaking
52
How are subdurals classified?
- **Acute** = most commonly caused by high-impact trauma, can occur in neonates by rupture of the vein of Galen
- **Subacute** = gradual pooling of blood in the subdural space that occurs within 4-21 days from the head injury
- **Chronic** = present for weeks/months, caused by rupture of small bridging veins within the subdural space, can be due to shaken baby syndrome
53
What are the S/S of a subdural?
**Gradually decreasing GCS (no lucid interval)**
- Acute = shock, seizures, coma, retinal haemorrhages
- Chronic = macrocephaly, FTT, developmental delay
54
What are the investigations for a subdural?
**CT-head = BANANA**
- A crescent collection, not limited by suture lines
- Large haematomas will push on the brain (‘mass effect’) causing a midline shift or herniation
Acute = hyperdense
Chronic = hypodense
55
What are the causes of a subarachnoid haemorrhage?
Caused by ruptured berry aneurysm or arteriovenous malformation
= Rare in children
56
What are the S/S of a subarachnoid?
- Sudden onset occipital headache
- Neck stiffness
- Fever
- +/- seizures or coma
- Retinal haemorrhages
- N&V
57
What are the investigations for a subarachnoid?
**CT-head:**
- Acute blood (hyperdense) distributed in the basal cisterns, sulci and in severe cases the ventricular system
**LP:**
- If CT negative
- >12hrs after onset of sx to allow development of xanthochromia
- Avoid if risk of increased ICP
58
What is the management of a subarachnoid?
Surgical correction of AV malformation
or
Radiological clipping of aneurysm
59
How is an intraventricular haemorrhage classified?
**Grade I (most common):**
- Bleeding ONLY in germinal matrix
- No further complications
**Grade II:**
- Intraventricular bleeding but NO enlargement of the venticles
**Grade III:**
- Intraventricular bleeding with enlargement of the ventricles
- Can lead to long-term brain injury
**Grade IV:**
- Bleeding extends into brain tissue around the ventricles
- After grade III/IV, blood clots can form which cause secondary hydrocephalus
- 50% with progressive post-haemorrhagic ventricular dilatation develop cerebral palsy in later life
60
What are the causes of an intraventricular haemorrhage?
> Vast majority occur in first 72hrs after birth
- Prematurity / VLBW / LBW
- Birth trauma combined with cellular hypoxia
61
What are the S/S of an intraventricular haemorrhage?
- Sleepiness and lethargy
- Seizures
- Poor tone
- Apnoea
- Shock
- Anaemia
- Tense fontanelle
- Grade I/II may be asx
- Reduced/absent Moro reflex
- Signs of raised ICP (bulging fontanelle, Cushing response)
= Monitor head circumference for progressive hydrocephalus
62
What are the investigations for an intraventricular haemorrhage?
**Trans-fontanelle USS** = used for dx and classification
**Bloods** = FBC, clotting, capillary gas for acid/base balance
63
What is the management for an intraventricular haemorrhage?
**There is no way to stop bleeding associated with IVH. The health care team will try to keep the infant stable and treat any symptoms the baby may be having.**
- Fluid replacement
- Anticonvulsant
- Blood transfusion may be given to improve blood pressure and blood count
- Ventriculo-peritoneal Shunt (VPS) if hydrocephalus
64
What is hydrocephalus?
Excess volume of CSF within the ventricles from abnormal flow, absorption or production
65
Describe the classification of hydrocephalus
**Obstructive / Non-communicating:**
*(structural pathology blocking the flow of CSF within the ventricles)*
- Congenital aqueduct stenosis
Dandy-Walker malformation (4th ventricle enlarged with no outlets)
Chiari malformation (cerebellar tonsils displaced down through foramen magnum)
- Acquired aqueduct stenosis
IVH
Tumour
**Communicating / Non-obstructive:**
*(flow of CSF disrupted after it exits the ventricles / failure to reabsorb)*
- Meningitis
- SAH
- Rarely choroid plexus tumour (increases CSF production)
66
What are the S/S of hydrocephalus?
**Acute** = vomiting, irritable, impaired consciousness
**Chronic** = FTT, developmental delay
**Other:**
- Increased head circumference
- Tense fontanelle
- Increased tone
- Papilloedema
- Ataxic gait
- 6th nerve palsy
- Sunset sign = eyes appear to be driven down bilaterally
67
What are the investigations for hydrocephalus?
**CT-head (1st line)** = dilation of ventricles, any tumours or cysts present
**MRI** = greater detail
**Measure head circumference**
**LP** = diagnostic and therapeutic > NOT in obstructive
68
What is the management of hydrocephalus?
**Ventriculo-peritoneal shunt (1st line):**
- Long-term CSF diversion technique
- May fail due to blockage/infection
**External ventricular drain (EVD)**
- Used in acute, severe hydrocephalus
**Obstructive**
- May require surgical removal of obstructing pathology
**Medical**
- Furosemide (inhibits CSF production)
69
What are the features of a migraine headache?
- Severe / throbbing
- Associated with nausea, photophobia and phonophobia
70
How do migraines in children differ from those in adults?
- Attacks are shorter lasting
- Headache more commonly bilateral
- GI disturbance more prominent
71
What are the S/S of a migraine?
**Without aura (90%):**
- 1-72hrs
- Pulsatile
- GI sx
- Worse with physical activity
**With aura (10%):**
- Visual, sensory, motor > characterised by transient hemianopia disturbance or a spreading scintillating scotoma
- Maybe no headache
- 5-60 minutes
- FHx, trigger
72
What are common triggers for migraines?
- Tiredness, stress
- COCP
- Alcohol
- Lack of food, dehydration
- Cheese, chocolate, red wines, citrus fruits
- Menstruation
- Bright lights
73
What are the investigations for migraines?
Good hx and examination
Imaging not needed unless red flag sx
74
What is the management for migraines?
**Education:**
- Headaches are common
- No long-term harm
**Acute:**
- 1st line = analgesic e.g. paracetamol, ibuprofen
Adjunct = anti-emetic e.g. cyclizine
- 2nd line = 5-HTI agonist e.g. sumatriptan nasal, rizatriptan
Adjunct = ibuprofen
**Ongoing / Prophylaxis:**
- 1st line = propranolol or pizotifen
- 2nd line = topiramate
75
What are tics?
Fast, repetitive muscle movements that result in sudden and difficult to control body jolts or sounds
76
What is Tourettes?
Chronic and multiple tics (must begin before 18yrs and persist for over 1yr)
No cure
77
When do tics start occurring?
Appear around 5yrs, most disappear by adulthood
Common, usually not serious
78
What are the S/S of tics?
- Bought about by triggers
- Focussing on them can make it worse
**Types:**
- Motor
- Vocal
- Phonic e.g. blinking, coughing, grunting, clicking fingers, repeating sound of phrase
79
What is the management for tics?
**Self-help:**
- Sleep and stress management
- Don’t tell child off for it / draw attention to it
**Habit reversal therapy:**
- Learn movements to ‘compete’ with tics so tics can’t happen at same time
**Exposure with response prevention (ERP):**
- Help the child get used to the unpleasant sensations that are often felt before a tic, can stop the tic occurring
**Mediations:**
1st line = antipsychotics e.g. risperidone
2nd line = clonidine, clonazepam, tetrabenazine, botulinum toxin
**Surgery:**
- Deep brain stimulation therapy (severe Tourette’s)
80
What are DMD and BMD ?
X-linked recessive degenerative muscle disorders characterised by progressive muscle weakness and wasting of variable distribution and severity
81
What is the difference between DMD and BMD?
**DMD:** Rapidly progressive form (more common).
**BMD:** Slowly progressive form.
82
What are the S/S of DMD?
**Sx onset 1-3yrs:**
- Developmental / language delay
- Waddling gait
- Toe-walking
- Difficulty running, climbing stairs, getting up from seated/lying position
- Decreased power/tone
- Gower’s sign = uses arms to stand up from squatted position
- Pseudohypertrophy of calves (replacement of muscle fibres by fat and fibrous tissue)
- Primary dilated cardiomyopathy
**Dx at 5yrs:**
- No longer ambulant by ~10yrs
- Braces required for walking > wheelchair
- Medial LE 35yrs
83
What cardiac pathology is associated with DMD?
Dilated cardiomyopathy
84
What are the S/S of BMD?
Sx onset ~10yrs
Less severe and progresses at slower rate
Walk into 40/50s then require wheelchair
85
What are the investigations for DMD/BMD?
**Bloods** = increased creatinine kinase from birth (myofiber necrosis)
**Genetic testing** = definitive dx (replaced biopsy)
**Lung function** = decreased VC leads to hypoventilation and atelectasis
86
What is the management for DMD/BMD?
**NO CURE > mx to alleviate sx**
**Conservative:**
- Education
- Special school for children with physical disabilities and/or learning difficulties
- Genetic counselling - female family members
- Support and counselling for parent and child
**Medical:**
- Oral glucocorticoids (improve muscle strength)
- Early aggressive mx of cardiomyopathy
- CPAP (resp care and assisted respiration may be required at later stage)
- Usual immunisation + pneumococcal and influenza
- Prophylactic abx for children with low VC
**OT/PT:**
- Moderate physical exercise
- Mobility aids
- Night splints
- Braces / spinal support
- Help swallowing difficulties
- Resp therapy for breathing issues
- Behaviour therapy for cognitive function
87
What is myotonic dystrophy?
**Autosomal dominant disorder characterised by progressive muscle wasting and weakness.**
- Often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use
- For example, a person may have difficulty releasing their grip on a doorknob or handle
88
What is the onset and LE of myotonic dystrophy?
Onset ~20-30yrs
Varied LE > neonatal death to normal LE
89
What are the genetic features of myotonic dystrophy?
1. Genetic defect = trinucleotide repeat
2. Genetic anticipation (disease has earlier onset / increased severity in successive generations)
90
What are the types of myotonic dystrophy?
**DM1:** Chr19, distal weakness more prominent.
**DM2:** Chr3, proximal weakness more prominent, severe congenital form not seen.
91
What are the S/S of myotonic dystrophy?
*Severity depends on number of CTG repeats > ranges from unaffected to severe*
- Muscles contract and are unable to relax
- Progressive muscle loss and weakness (smaller muscles > larger muscles)
- Myotonic facies (long, ‘haggard’ appearance)
- Frontal balding
- Bilateral ptosis
- Cataracts
- Dysarthria
- Abnormal intellectual functioning
- DM
- Testicular atrophy
- Cardiac involvement > heart block, cardiomyopathy
- Dysphagia
92
What are the investigations for myotonic dystrophy?
- **Bloods** = CPK may be raised
- **Muscle biopsy**
- **EMG** = characteristic ‘dive bomber’ sound
- **Genetic testing** = definitive diagnosis > DNA mutation analysis
93
What is the management for myotonic dystrophy?
- **PT** = strength and flexibility training
- **SALT**
- **OT** = specially designed utensils for head weakness, wrist braces
- **Medical**= quinine or procainamide for myotonia, support for resp/GI problems
- **Surgical** = cataract operations
- **Orthopaedic** = ankle-foot arthroses for foot-drop
- **Genetic counselling**
- **Psychological support**
94
What is NF1 / von Recklinghausen Disease?
Autosomal dominant disorder caused by a gene mutation on chr17 which encodes for tumour suppressor protein neurofibromin
95
What is NF2?
**Causes tumours to grow on nerves that transmit sound and balance information from inner ear to brain**
- More internal/hidden signs (less common, presents in adolescence)
- Bilateral acoustic neuromas +/- deafness
- Cerebellopontine angle syndrome with facial nerve paresis and cerebellar ataxia
96
What is NF1 associated with?
- MEN2
- Pulmonary HTN
- Phaeochromocytoma
- RAS with HTN
97
What is the diagnostic criteria for NF1?
*Need 2 or more of the following to dx:*
- 6 or more café-au-lait spots (>5mm pre-puberty, >15mm post-puberty)
- >1 neurofibroma (firm, nodular overgrowth of nerve)
- Axillary freckles
- Optic glioma +/- visual impairment
- Lisch nodule > hamartoma of iris (on slit-lamp exam)
- Bony lesions from spheroid dysplasia +/- eye protrusion
- First degree relative with NF1
98
What are the investigations for NF1?
Slit-lamp examination = Lisch nodules
MRI/CT = glial nodules
99
What is the management for NF1?
*No treatment to reverse NF1 > treat S/S*
**Medical:**
- Regular follow-up for monitoring BP
- Ophthalmology assessment
- Testing of 8th nerve and skeletal complications
**Surgical:**
- Laser removal of nodules
- Orthopaedic or neurosurgical intervention
**Genetic counselling:**
- Antenatal dx with amniocentesis/CVS
**Educational:**
- Support
100
What is Tuberous Sclerosis?
**Rare autosomal dominant neurocutaneous syndrome that causes benign tumours to develop in different parts of the body**
101
What are the cutaneous S/S of tuberous sclerosis??
- Depigmented **‘ash-leaf’ spots** which fluoresce under UV light
- **Shagreen patches** (roughened patches of skin over lumbar spine)
- **Angiofibroma’s** (adenoma sebaceum > butterfly distribution over nose)
- **Subungual fibromata** (fibromata beneath nails)
- Café-au-lait spots may be seen
102
What are the neurological S/S of tuberous sclerosis?
- Infantile spasms / epilepsy
- Developmental delay
- Intellectual disability (often with ASD)
103
What are the non cutaneous/neuro S/S of tuberous sclerosis?
- Retinal hamartomas (dense white area on retina)
- Rhabdomyomas of the heart
- Gliomatous changes can occur in the brain lesions
- Polycystic kidneys
- Renal angiomyolipomata
- Multiple lung cysts
104
What are the investigations for tuberous sclerosis?
**CT** = calcified subependymal nodules and tubers from 2yrs
**MRI** = more sensitive, clearly identified other tubers and lesions
105
What is the management for tuberous sclerosis?
- Antiepileptics
- Antihypertensives
- Neurosurgical intervention
106
What is Sturge-Weber Syndrome?
A rare, neurological disorder present at birth and characterized by a port-wine stain birthmark (haemangiomatous facial lesion in distribution of the trigeminal nerve)
107
What are the S/S of Sturge-Weber Syndrome?
- Port-wine stain
- Epilepsy
- Contralateral hemiplegia
- Phaeochromocytoma
- Intellectual disability
- Glaucoma
Lesion intracranially = ipsilateral leptomeningeal angioma
Ophthalmic division of trigeminal nerve always involved
108
What are the investigations for Sturge-Weber Syndrome?
MRI
(Used to use XR > ‘rail-road’ track sign)
109
What is somatisation?
Abdominal pain of sufficient severity to interfere with daily activities without demonstratable evidence of pathological condition
110
What are the causes of somatisation?
Communication of emotional distress, troubled relationships, and personal predicaments
111
What are the S/S of somatisation?
**Recurrent abdominal pain:**
- Peak 9yrs
- Sharp and colicky
- Apley’s rule = further pain is from umbilicus, more likely pain is of organic nature
**Recurrent headaches:**
- Peak 12yrs
**Limb pain, aching muscles, fatigue, neurological sx**
- >12yrs
112
What are the investigations for somatisation?
=Dx of exclusion
Full physical examination
Full, detailed hx (especially social) > can be done alone (no parents), reports from school useful
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What is the management for somatisation?
**1st line:**
- Promote communication between family and child (and school if necessary)
- Pain-coping skills i.e. relaxation techniques for headaches
**2nd line:**
- Referral to CAMHS
(If 1st line fails or serious family dysfunction / impaired general functioning)
114
What is developmental delay?
When it takes longer to reach developmental milestones than would be expected for children at their age
115
What are the causes of developmental delay?
- Genetic = cerebral palsy, DS
- Epilepsy
- Infection
- Malabsorption disorders = coeliac, IBD
- Metabolic causes = hypothyroidism
- Autism, ADHD, learning disabilities
- Eating disorders, depression and anxiety
116
What are the S/S of developmental delay?
**Isolated developmental delay in one domain** or **Global delay**
FHx of developmental delay syndromes
Dysmorphic features
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What are the investigations for developmental delay?
- Metabolic, genetic, infection screen
- Autism/ADHD screen
- IQ testing
118
What is the management of developmental delay?
**MDT approach:**
- SALT, OT, PT, family counselling, behavioural intervention, educational assistance
**Manage associated conditions**
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What is an abdominal migraine?
Intense umbilical pain which interferes with daily activities, at least twice in 12m, and at least 2 of: anorexia, N/V, photophobia, pallor, headache
