Paediatric Neurology 1 Flashcards
What are the side effects of sodium valproate?
- weight gain (linked to PCOS, metabolic syndrome)
- nausea/vomiting
- hair loss
- easy bruising (thrombocytopenia)
- tremor
- dizziness
What are the side effects of lamotrigine?
- rash - SJS high risk (1/50)
- nausea
- dizziness
- tremor
- diplopia
What are the side effects of vigabatrin?
- Visual field constriction (30%) from peripheral retinal atrophy, incompletely reversible on cessation
- optic neuritis
- vision loss (rods > cones, therefore night vision mostly affected)
What are the side effects of gabapentin?
- somnolence
- dizziness
- tremor/ataxia.
What are the side effects of carbemazapine?
- nausea/vomiting
- SJS!! Asians susceptible if HLA B1502
- dizziness
- drowsiness
- liver dysfunction
- hyponatraemia (SIADH)
- diplopia, ataxia
What drugs can cause benign intracranial hypertension?
Antibiotics: tetracyclines, sulfonamides, nitrofurantoin, nalidixic acid
Chemo: cytarabine; cyclosporin
Anticonvulsants: phenytoin
5-ASA; corticosteroids + withdrawal
What psychiatric comorbidity is associated with Tourette Syndrome?
OCD
What are the side effects of phenytoin?
- purple glove syndrome!
- liver dysfunction w/ high ammonia
- gum hypertrophy
- hirsuitism
- nystagmus
- rash, SJS
- folic acid deficiency
- lower bone density.
What are the side effects of topirimate?
- Renal stones
- (hyperchloraemic) Metabolic acidosis - inhibits renal carbonic anhydrase, RTA
- slow thinking
- weight loss (appetite suppression)
- paraesthesia
Bilateral VIII nerve acoustic neuromas (i.e. vestibular schwannomas) are characteristic for
Neurofibromatosis 2
Note: could be unilateral with 2 of meningioma, neurofibroma, schwannoma, juvenile posterior subcapsular cataracts, glioma.
Which cells are affected in SMA?
Anterior horn cells
What are the skin lesions associated with tuberous sclerosis?
- Hypomelanotic macules
What is Horner syndrome?
Ipsilateral ptosis, miosis and anhydrosis
Congenital or lesion of sympathetic pathway
Sequelae of cardiac surgery
If occurs before age 2, depigmented iris
What age can you test smell from?
32/40
When does the grasp reflex appear?
28/40
When should the Moro reflex disappear?
By 5-6 months postnatally
What are the diagnostic criteria for neurofibromatosis 1?
90%, 17q 2 or more of: - ≥ 6 café-au-lait macules (prepubertal >5 mm, postpubertal >15 mm). - ≥ 2 neurofibromas, or one plexiform neurofibroma (30%) - axillary/inguinal freckling - 2 or more Lisch nodules - Osseous lesion - Optic glioma (15%; symptomatic in 2%) - 1st degree relative with NF
How do you treat plexiform neurofibroma?
- Surgical - recurrence rate high
- Medical - MEK inhibitor
What are the diagnostic criteria for neurofibromatosis 2?
- Bilateral vestibular schwannoma
OR - Positive family history AND unilateral vestibular schwannoma OR two of meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular cataract
OR - Multiple meningiomas AND unilateral vestibular schwannoma OR two of schwannoma, glioma, neurofibroma, posterior subcapsular cataracts
What genetic testing can be done for NF1?
- If known mutation can target this e.g. for preimplantation etc.
- 95% of people with diagnosis have a mutation in the NF1 gene
- If the mutation is NOT known then you need to do sequencing for the entire NF1 gene therefore routine genetic testing is not indicated
What are the mutations involved with tuberous sclerosis?
- TSC1 / 9q34 / harmatin
- TSC2 / 16p13.3 / tuberin
What are the neuroimaging findings of tuberous sclerosis?
- Cortical dysplasia (tubers or white matter radial migration) 50% frontal lobe; high T2 and low T1 , 10% enhancement; frequently calcify >2yo
- Subependymal hamartomas: 88% calcification after early childhood, seen by 6/12; variable signal, frequently high T1 and iso-high T2
enhancement variable, don’t grow - Subependymal giant cell astrocytomas (SGCA/SEGA): 8-18 years, large and growing, intense enhancement
What tumours are children with NF1 at higher risk of?
- Optic glioma and neurofibromas (obviously)
- Phaeochromocytoma
- Rhabdomyosarcoma
- Leukaemia
- Wilms tumour
What are minor features of TS?
- dental enamel pits: 3 or more for the entire dentition
- intraoral fibromas (2 or more)
- non-renal hamartomas
- retinal achromic patch
- ‘confetti’ skin lesions
- multiple renal cysts
What are major skin features of TS?
- Hypomelanotic macules/ashleaf spots (>3, must be 5mm, at birth/infancy), 90%
- Angiofibromas (>3, age 2-5) 75% or fibrous cephalic plaque 15-20%
- Ungual or periungual fibroma (>2, adolescent) 20%
- Shagreen patch (like orange peel, 1st decade) 20-30%
(% for by adulthood)
What is the major genetic mutation in Friedreich Ataxia?
Frataxin gene, 9q13, GAA repeat expansion in intron 1
What sensory abnormality is associated with Friedreich Ataxia?
- Posterior column dysfunction (vibration/proprioception)
What is adrenoleukodystrophy?
- X-linked disorder, body attacks adrenals and white matter due to VLCFA accumulation
- Symptomatic 5 - 15yo
- learning, behavioural, gait.
- Generalized seizures early on
- UMN signs: spastic quadriparesis and contractures, ataxia, and marked swallowing disturbances (pseudobulbar palsy), more terminal stage
12-18 month old with irritability, inability to walk, diminished deep tendon reflexes and hyperextension of the knee, causing genu recurvatum has:
Late infantile metachromatic leukodystrophy - AR white matter disease.
What are the findings in metachromatic leukodystrophy?
- Irritability, inability to walk, diminished or absent deep tendon reflexes, knee hyperextension
- Gradual muscle wasting, weakness, hypotonia
- MRI - bilateral symmetrical confluent areas of signal change in periventricular white matter with sparing of subcortical U fibres
We are cautious with Na Valproate in <2 year olds because of…
…relative risk of hepatotoxicity (but we use in Dravet!)
Avoid which antiepileptics in juvenile myoclonic epilepsy
- Carbamazepine
- Vigabatrin
- Tiagabine
- oxcarbazepine
- phenytoin
- pregabalin
- gabapentin
EEG has centro-temporal spikes with accentuation in sleep in….
Rolandic epilepsy
What are the earliest skin findings in TS?
- Ash leaf spots
- May be present at birth or early infancy
- 3 or more white spots at birth suggests diagnosis of tuberous sclerosis
What is the drug of choice for childhood absence epilepsy?
Ethosuximide
The leading cause of stroke in children is:
Focal cerebral arteriopathy
Avoid carbamazepine in…
…primary generalised epilepsies such as CAE and JME.
How is myotonia congenita/ congenital myotonic dystrophy inherited?
AD
What are the typical clinical features of neuromyelitis optica?
Optic neuritis and transverse myelitis
Often Aquaporin 4 positive
What is the typical age for ADEM?
<10
What does the facial nerve (VII) do?
Facial movements: Blinking/closing eyes, smiling, frowning, lacrimation, salivation, flaring nostrils, raising eyebrows Innervates stapedial (stapes) muscles of the middle ear & taste sensations from the anterior two thirds of the tongue.
What CN are in the cavernous sinus?
- CN 3-6
- If you get a problem in the cavernous sinus, you will get opthalmoplegia, proptosis, occular and conjunctival congestion, trigeminal sensory loss, Horners syndrome
What other issues is Bell’s Palsy associated with?
- hypertension
- coarctation of the aorta
- Acute OM
- Ramsay-Hunt syndrome (reactivation of VZV causing a vesicular eruption with facial nerve palsy).
What is the difference between bulbar and pseudobulbar palsy (and how do they manifest)?
- affects CN IX-XII
- pseudo-bulbar is UMN, bulbar LMN
- difficulty eating, speaking
- Differentiated by reflexes, emotional lability with pseudobulbar
Name 3 early warning signs of cerebral palsy:
- handedness before 18 months of age
- delayed motor milestones
- persistence of ‘infantile’ or primitive reflexes.
What is the clinical presentation of Friedrich’s ataxia?
- Cerebellar signs/spinocerebellar degeneration and evidence of a peripheral neuropathy.
- Unsteady gait, slurred speech.
- Typically extensor plantar responses with absent lower limb deep tendon reflexes
What are the diagnostic criteria for tuberous sclerosis complex?
Genetic:
- TSC1 or TSC2 pathogenic mutation
Clinical :
- definite 2 major features OR 1 major and ≥2 minor
- possible 1 major OR ≥2 minor
What are the major non skin features of TS?
- Cortical dysplasia
- Subependymal nodule
- Subependymal giant cell astrocytoma
- Multiple retinal hamartomas
- Cardiac rhabdomyoma
- Renal angiomyolipoma
- Pulmonary lymphangioleiomyomatosis
What genetic abnormality is associated with myotonic dystrophy?
- CTG triplet repeat on chromosome 19q13.3 in DMPK
What are the laboratory/imaging findings in X-linked adrenoleukodystrophy?
- 50% hypoadrenalism
- Symmetrical cerebral white matter signal change in posterior periventricular white matter.
