NEUROLOGY SN Flashcards
In Sturge-Weber syndrome, where is the usual location of a Port-Wine stain?
Distribution of the first branch of the trigeminal nerve (ophthalmic branch)
What are the 3 clinical features of Sturge-Weber syndrome? -what is the classic finding on CT head of a patient with Sturge Weber who is coming in with focal seizures?
***Think vascular anomalies! 1. Port-Wine stain 2. Leptomeningeal vascular anomalies - can cause seizures and developmental delay 3. Glaucoma: secondary to ocular vascular anomalies -classic CT finding: intracranial calcification in railroad track/tram track appearance (leptomeningeal vascular anomalies of the cerebral cortex)
What is the classic presentation of a pediatric stroke?
Focal weakness of an extremity, often followed by a focal seizure since most strokes involve the MCA territory -Todd’s paresis: focal weakness occurs AFTER the seizure -Stroke: focal weakness occurs BEFORE the seizure
What is the definition of epilepsy?
Occurrence of 2 or more unprovoked seizures
By definition, how long can a Todd’s paresis last up until?
24 hours maximum
What is BECTS?
Benign Epilepsy of Childhood with Centrotemporal spikes aka Benign Rolandic Epilepsy
What test should be done in all patients with new onset focal seizures?
MRI - urgency will depend on presence of other red flags
In a patient presenting with their first unprovoked seizure, what are the chances of having another seizure in the future?
30%-40%
What are characteristic features of BECTS? (4) Common trigger? Treatment?
- Occur at night 2. Partial seizure with no loss of consciousness - however, in 1/3 of patients seizures will progress to secondary generalized 3. Unilateral sensorimotor involvement of the face: tongue, lip, gums, cheeks 4. Inability to speak: gurgling, grunting Common trigger: sleep deprivation Treatment: most do not require antiepileptic therapy since seizures are generally short lived and infrequent -If treating: can use carbamazepine or clobazam
What is the natural history of BECTs?
Usually resolve 2-4 years from onset. 95% outgrow by age of 15, 100% outgrow by age of 18
What is the most common idiopathic epilepsy syndrome in children?
BECTS
What is the peak onset of BECTS? More common in boys vs. girls?
8-9 years old More common in boys
Differentiate tics from stereotypies?
Tics:
- Symmetry & onset: asymmetric, occur when bored or distracted (not excited),
- Age: onset at 4-5 years old,
- Prognosis/pattern: worsen with time into different movements, semivoluntary
Stereotypies:
- Symmetry & onset: usually symmetric, occur when excited or happy,
- Prognosis/pattern: same movement over time
3 Ways to check for tremor on exam?
- pour water from one cup to another
- draw spirals on piece of paper
- touch their two index fingers together
What does Romberg check for? Pronator drift?
Romberg - propioception Pronator drift - UMN weakness
3 features of essential tremor?
2 conditions to rule out?
Essential tremor:
- Worsens with age
- Occurs with certain postures
- Does not occur at rest
Rule out:
hyperthyroidism and Wilson’s disease (ceruloplasmin)
What is holoprosencephaly?
Cause
Severity/associations:
Cause: Cephalic disorder in which the forebrain fails to develop into two hemispheres
Severity/associations:
- can be mild or severe (leads to fetal demise)
- midline defects can be seen (cleft palate, midline incisor, anosmia -cyclopsia is most severe form
What is the definition of status epilepticus?
Seizure > 30 minutes OR 2 or more seizures without return to baseline mental status
What are the clinical features of tuberous sclerosis? -mode of inheritance
Think ASHLEAF, (hamartomas in multiple organs)
Genetics: autosomal dominant of variable penetrance
A = ashleaf hypopigmented macule seen with Woods Lamp
S = shagrene patch (area of thick leathery skin)
H = heart rhabdomyoma
L = lung hamartoma, retinal hamartoma
E = Epilepsy from brain tubers /astrocytoma, infantile spasms
A = Angiomyolipoma of the kidney
F = Facial angiofibromas, periungual fibromas
Can also get
- periungual fibromas (major criteria),
- subependymal giant cell astrocytomas
- Infantile spasms may be the first recognized clinical manifestation of tuberous sclerosis (occur 6-12 mo, almost never occur > 12 mo) (65-70% of cases) -indicate poor neurodevelopmental outcome
Which conditions are associated with: -hypopigmented macules -hyperpigmented macules
Hypopigmented macules:
tuberous sclerosis
Hyperpigmented macules:
neurofibromatosis-1
What is the triad of clinical features seen in the Miller Fisher variant of Guillain Barre syndrome?
- Ophthalmoplegia 2. Ataxia 3. Arreflexia
What is the diagnostic criteria for neurofibromatosis type-1?
COLOR-NF Need 2/7 of the following:
Cafe au lait spots - minimum of 6:
- > 5 mm in prepuberty and
- > 15 mm in postpuberty
Optic glioma
Lisch nodules - hamartomas of the iris (almost never seen in children < 10 yo)
Osseous lesions - ie. sphenoid wing dysplasia, cortical thinning of long bones
Relative - first degree relative with NF-type 1
Neurofibromas - 1 plexiform or 2 simple neurofibromas Freckling of axilla/inguinal region
What is the pathophysiology of Guillain-Barre syndrome?
Timing of GBS?
How do you diagnose GBS?
Pathophysio: Postinfectious polyneuropathy due to antibodies attacking myelin sheath causing demyelination -
Timing: follows a nonspecific viral infection by 10 d -always
Nerves affected:
- motor nerves
- autonomic nerves (arrhythmia, hyper/hypotension, bowel or bladder dysfunction)
- sometimes sensory nerves -diagnosis:
Inv;
- CSF studies are essential
- MRI spinal cord to rule out other spinal cord lesions that may also cause paralysis,
- nerve conduction studies
- EMG
- stool samples for Campylobacter or H pylori
What do you see in CSF of a patient with guillain barre syndrome?
- Usually either completely normal or see isolated elevated proteins -NO pleocytosis
N.B. This is diagnostic of GBS since in any other cause like infection, if proteins go up, you would ALSO see a cellular response with pleocytosis
What are 2 MRI findings generally seen on imaging of guillain barre syndrome patients?
With gadolinium enhancement:
- Thickening of cauda equina
- Thickening of intrathecal nerve roots
What is the management of a patient with guillain barre syndrome?
- Admit to hospital and monitor closely since ascending paralysis can rapidly involve resp muscles within 24 hrs
- Use spirometry to monitor lung capacity
- IVIG x 5 days
- May need to keep patient NPO if bulbar muscles are affected (difficulty speaking or swallowing problems..leading to increased risk of aspiration)
What 3 clinical features are predictive of poor outcome in guillain barre syndrome?
- Need for intubation 2. Cranial nerve involvement 3. Maximum disability at time of presentation
What are the main etiologies of cerebral palsy? (3)
- Prenatal insult (80%): maternal infection most common leading to abnormal brain development
- Intrapartum asphyxia ( 97th percentile)
- Post partum
What are the classifications of cerebral palsy? (4)
- Spastic diplegia (35% = most common)
- Spastic quadriplegia (20%):
- Hemiplegia (25%):
- Extrapyramidal (athetoid, dyskinetic) (15%):
What is the usual clinical presentation of infants with spastic hemiplegia?
- Decreased spontaneous movement on the affected side
- Hand preference at very early age
- Arm involvement > leg involvement
- Spasticity in affected side (increased muscle tone especially in antigravity muscles like gastrocnemius which increases with velocity) = usually walks on tiptoes, flexed wrist
What is the usual clinical presentation of spastic diplegia?
- Bilateral spasticity of the legs > arms -when child begins to crawl: uses arms in normal fashion but tends to drag the legs behind
- If paraspinal muscle involvement, child may be unable to sit 3. If there is excessive adduction of the hips, application of a diaper may be difficult
- When child is suspended vertically, can see scissoring posture of the lower extremities
- Delayed walking
- May have vision issues or learning disabilities
What is the most common neuropathologic finding in children with spastic diplegia?
PVL (seen on MRI in > 70% cases)
What is the most severe form of CP and what are the clinical features?
Spastic quadriplegia:
- marked motor impairment of all extremities
- High association with MR, seizures
- Swallowing difficulties are common increasing risk of aspiration pneumonia
- Speech and visual abnormalities
What are the clinical features of athetoid CP?
- Hypotonic with poor head control and marked head lag –> develop increased tone with rigidity and dystonia over several years
- Upper extremities > lower extremities with limb positioning in fixed postures
- Tongue thrust/drooling
- Upper motor neuron signs are usually not present, seizures are uncommon
- Intellect preserved in many patients
Which form of CP is most likely to be associated with birth asphyxia?
Athetoid CP
In patients with dystonia who have a normal MRI, what condition should you rule out?
Segawa disease:
DOPA-responsive dystonia! -may LOOK like athetoid CP but when you give DOPA, they then develop normally and the symptoms resolve
What tests should be ordered for work-up of a patient with possible CP? (6)
- MRI head
- MRI spine (r/o abnormalities at the base of the skull, spinal cord tumor)
- Metabolic work-up
- Hearing/vision tests
- Genetic testing if other congenital malformations are present
- For hemiplegia, need coags/thrombosis work-up to r/o stroke
What are main treatment modalities for children with CP?
- Multi-D team function: PT/OT/dietician/SLP/social workers
- Exercises to decrease contractures
- Ortho referral: may require tenotomy of achilles tendon, etc. 4. Equipment aides: Motorized wheelchairs, special feeding devices, etc.
- Constraint-induced movement therapy: useful in hemiplegic CP where the good side is constrained with casts while the impaired side performs exercises to improve hand and arm functioning
- Medications to treat spasticity: benzos, baclofen, dantrolene, levodopa for dystonia, botox injections into specific muscle groups or salivary glands
What are the most common causes of recurrent headaches in children and adolescents? (2)
- Migraine
- Tension
What is spina bifida occulta?
Midline defect of the vertebral body WITHOUT protrusion of the spinal cord or meninges
- usually asymptomatic
- usually a defect in posterior vertebral body fusion
What are options for prophylaxis of migraines? (6) -indication for use?
Indications for use:
- Need for abortive medication > 3x/wk
- Missing lots of school or lots of functional impairment
Good evidence:
- Flunarizine (calcium channel blocker)
Poor evidence but used anyway:
- Tricyclic antidepressants: amitryptiline
- Anticonvulsants: topiramate, valproic acid, levetiracetam
- Beta blockers: propranolol
- Calcium channel blockers: verapamil
- SSRIs: fluoxetine
What drugs can cause movement disorders? (3)
- Antipsychotics
- Anti emetics (metochlopramide)
- Anti histamines (cetirizine)
What are signs/symptoms of acute dystonic reaction? (2) -treatment?
Caused by too much dopamine blockade usually by an antipsychotic, thus leading to uninhibited cholinergic activation 1. Torticollis
- Tongue protrusion
treatment:
1. anticholinergic! 1st line = benzatropine (Cogentin),
2nd line = benzos,
3rd line = IV benadryl
What are clinical features of neuroleptic malignant syndrome? (4)
- Dystonia
- Fever
- Muscle rigidity
- Autonomic symptoms: tachycardia, hypertension
What is the most common cause of chorea in children? -what are the clinical hallmarks of SC? -what is the treatment?
Sydenham’s chorea -emotional lability is CHARACTERISTIC of sydenham’s chorea -clinical hallmarks:
- Chorea
- Hypotonia
- Emotional lability**** (this is super characteristic) -
treatment:
- PENICILLIN x 10 d course (to decrease risk of rheumatic fever)
- steroids
- long term penicillin prophylaxis
- ECHO to r/o carditis
What is the order of which the primitive reflexes disappear?
- stepping reflex: 2 mo -
grasps: 2-3 mo -
atonic neck reflex: 4-6 mo -
moro: 4-6 mo -
babinski becomes downgoing: 1 yo
What are the clinical features of pseudotumor cerebri? -imaging results? -
LP results? -
causes? (5)
- Headache
- 3rd or 6th nerve palsy
- Papilledema
- Diplopia -imaging:
MRI/CT normal -
LP normal except for increased opening pressure -
causes: 1. Medications 2. Hyperparathyroidism/hypothyroidism 3. Cushing’s syndrome 4. Obesity 5. Sinus venous thrombosis
What medications can cause pseudotumor cerebri? (6)
- Antibiotics: Tetracyclines (minocycline), Nitrofurantoin
- Cancer: Cyclosporine, Cytarabine
- Endocrine: Steroids, GH, OCP
- Vitamins: High vitamin A
What is the treatment for pseudotumor cerebri?
- Removing any offending drugs
- Weight loss
- Acetazolamide or topamax
- Therapeutic LPs for severe
What are side effects of phenytoin?
- CNS: Slurred speech and ataxia
- Fulminant hepatic failure
- Lymphadenopathy
- Skin/mucous: Gum hypertrophy, Stevens-Johnsons
Which two medications can increase serum phenytoin serum levels?
- Warfarin
- Septra (decreases metabolism of phenytoin) ***decreases metabolism of dilantin by decreasing P450 enzyme activity
What percentage of children with absence seizures develop GTC seizures?
40-50%
What factors determine good prognosis for absence seizures (aka resolution)? (5)
- No GTC seizures
- Developmentally normal
- Normal neurological exam
- No family history of seizures
- Normal EEG
What 3 medications can be used to treat absence seizures?
- Ethosuxamide (best choice)
- Valproic acid 3.
Lamotrigine
What criteria must be fulfilled to make the diagnosis of chronic daily headache (CDH)?
- > 4 month history
- > 15 headaches/month
- Headaches last > 4 hours -normal neuro exam
What are the main distinguishing features between tension-type headaches and migraines?
Tension type headaches: -usually mild -do not disrupt patient’s lifestyle or activities -no N/V/photophobia
Migraines: -stereotypes attacks of frontal, bitemporal or unilateral intense pounding or throbbing pain that is aggravated by activity and disrupt patient’s lifestyle or activities. Improved with rest. -associated with N/V/photophobia/phonophobia -can have visual aura preceding the headache and last 15-30 mins
What are indications for neuroimaging in a patient presenting with headache? (8)
- Most severe on awakening or am vomiting
- Focal neuro signs/papilledema on exam
- Awaken the patient from sleep
- Altered LOC
- Seizure
- Exacerbated by bending or coughing
- Acute, severe without previous history of headache
- Progressively worsening
What are clinical features of SUNCT? -workup? -treatment?
Short lasting unilateral neuralgiform headache
- Short lasting neuralgiform pain around the eye in V1 distribution of trigeminal nerve - psilateral conjunctival injection and tearing
- 2-600 times per day
Workup: need MRI brain in every case due to secondary causes of SUNCT from pituitary tumor
Treatment:
- Oxygen for pain relief
- Trials of indomethacin
- May need carbamazepine or lamotrigine
What therapies can be used for acute treatment of migraine?
- Biobehavioural: -regular sleep schedule -regular dietary schedule (avoid missing meals) -hydration -elimination of precipitating factors -biofeedback -psychotherapy
-
Medications: -
a. Analgesics (NSAIDs, acetaminophen)
b. triptans (intranasal sumatriptan has good evidence but can only be used in children > 12 yo)
c. antiemetics (metoclopramide, promethazine, ondansetron)
- What is the definition of partial vs. primary generalized seizure?
- in a patient who is found during a generalized seizure, what one feature can help you determine whether the seizure was primary generalized vs. focal with secondary generalization?
Partial: seizure arises from one region of the cortex -remember that partial seizures can become secondary generalized once the electrical conduction spreads from one hemisphere to the other
Generalized: seizure arises from both hemispheres simultaneously -
primary generalized vs. secondary generalized: if the child is verbal, they MAY be able to tell you they had an aura prior. Presence of an aura indicates a focal origin
What are uncinate seizures? -
gelastic seizures?
Uncinate seizures: arise from medial temporal lobe with an olfactory hallucination of an extremely unpleasant odor (burning rubber) -
gelastic seizures: originate from hypothalamic tumor, spells of uncontrolled laughter
What is the characteristic EEG finding of absence seizures? -
what maneuvers can provoke absence seizures? (2)
3-Hz spike and wave activity -
stimulated by:
- hyperventilation
- strobe light stimulation
How can you differentiate between absence seizures (generalized) versus complex partial temporal seizures?
Similariities:
Both cause cessation of activity, staring spells, and automatisms -
Differences:
Absence seizures:
no postictal confusion, simple automatisms, provoked by hyperventilation, last a few seconds -
Complex partial temporal seizures:
+ postictal confusion, more complex automatisms, last several minutes ****Impt to differentiate between these since anticonvulsant treatment is different!
What is the cause of benign neonatal convulsions?
Autosomal dominant genetic disorder localized to chromosome 20 -get generalized clonic seizures towards the end of the 1st week of life -favorable prognosis
What are the clinical features of juvenile myoclonic epilepsy (classic triad)?
Classic hallmark feature?
treatment?
Autosomal dominant disorder -occurs in adolescence -
classic triad:
- Myoclonic jerks
- GTC sz
- Absence sz
classic hallmark feature: morning myoclonus within 90 minutes of awakening (could be described as clumsy with difficulty combing hair or dropping fork)
treatment: valproic acid
What are potential causes of infantile spasms? -
which are more likely to respond to therapy? -
what is the most recognized cause? -
what treatment is used to treat infantile spasms? (4)
- Idiopathic = 40% of cases = MORE LIKELY TO RESPOND TO THERAPY and 40% have good intellectual outcome
- Specific etiology = 60% of cases = LESS LIKELY TO RESPOND TO THERAPY and have poor intellectual prognosis -
Causes:
- metabolic disorders
- developmental malformations (polymicrogyria, lissencephaly, schizencephaly
- Chromosomal: Down syndrome
- Neurocutaneous syndromes (Tuberous sclerosis is the most common recognized cause), sturge weber -
- Congenital infections -encephalopathies
Treatment:
- ACTH and oral prednisilone
- Vigabatrin
- Benzos
- Valproic acid
What is Lennox-Gastaut syndrome?
Epileptic syndrome = multiple seizure types
-most children have underlying brain injury or malformations -usually respond poorly to treatment
What is Landau-Kleffner syndrome? -
EEG findings? -
treatment?
Acquired epileptic aphasia
- abrupt loss of previously acquired language in young children due to acquired cortical auditory deficit (will become oblivious to everyday sounds)
- some patients develop several types of seizures as well
EEG findings:
highly abnormal in language areas during sleep (perisylvian region) especially during NREM - both hemmispheres. May have electrical status epilepticus during sleep (ESES)
Treatment:
- Drugs:
a. valproic acid is treatment of choice.
b. Can also try keppra or steroids if prolonged course
c. High-dose nocturnal benzodiazepines
2. speech therapy
3. Surgical intervention for lesional cases
What is Rasmussen encephalitis? -treatment?
Cause:Chronic, progressive focal inflammation of the brain -unknown cause -
Clinical: begins with focal motor seizures, then progresses to hemiplegia and cognitive deterioration -
treatment: hemispherectomy
What factors increase the risk of development of epilepsy after a febrile seizure? (4)
- Complex febrile seizure
- Developmental delay
- Family history of seizures
- Abnormal neuro exam -
Risk calculation:
2% chance if one risk factor present
-10% chance if two risk factors present
What is the recurrence risk for 2nd seizure if a patient presents with a 1st seizure of GTC?
-recurrence risk for 2nd seizure if a patient with preexisting neurologic abnormality has a partial seizure and an abnormal EEG?
- 1st seizure being GTC: 50% = can wait to start antiepileptics
- 1st seizure being partial in preexisting neurologic abnormality with abnormal EEG: 75% = start antiepileptics
Which anti epileptics should be used for treatment of generalized motor seizures? (4)…check Nelson, UpToDate??
- Valproic acid
- Lamotrigine
- Topiramate
- Levetiracetam
What anti epileptics should be used for treatment of partial seizures? (5)
- Carbamazepine
- Oxcarbazepine
- Phenytoin
- Phenobarb
- Gabapentin
Which epilepsy conditions generally require anti convulsant therapy for life?
LJA…
- Lennox Gastaut
- Juvenile myoclonic epilepsy
- Atypical absence seizures
What is transverse myelitis?
- clinical features?
- workup?
- treatment?
Acute postinfectious demyelination of the spinal cord (usually viral) -can also occur post immunization
Lesion: will have a clearly defined sensory level of deficits (sensorimotor and autonomic)
Clinical features:
1. neck or back pain, then numbness and paralysis in the affected musculature
- urinary retention/bowel incontinence
workup:
- CSF (will see pleocytosis and elevated IgG)
- MRI (gadolinium-enhancing cord lesion)
treatment: high dose steroids
What is a disease of the anterior horn cell?
-clinical features of SMA 1, SMA 2, SMA 3?
Spinal muscular atrophy -progressive degeneration of anterior horn cells and denervation of muscle
- SMA-1 (Werdnig-Hoffman disease) = severe infantile form (severe hypotonia, affected at birth and progress to flaccid quadriplegia with bulbar palsy, respiratory failure and death within 1st year of life
- SMA-2: late infantile form
- SMA-3 (Kugelberg-Welander disease): most mild form, begins in late childhood with proximal weakness and progresses slowly over decades
Clinical:
- muscle fasciculations due to denervation (tongue++)
- Above IQ for their age (exposed to adult speech)
What do fasciculations represent? -UMN or LMN?..in SMA
Fasciculations: specific clinical sign of muscle denervation! -sign of LMN lesion
What does EMG of SMA patient show?
- what is the definitive diagnostic test for SMA?
- what is the treatment for SMA? (5 main concepts)
EMG:
Fasciculations and fibrillations
Definitive diagnostic test: specific DNA probe for SMA in the SMN gene -
Treatment: no treatment is available to delay progression :( All we have is supportive care
- Minimize contractures
- Prevent scoliosis
- Prevent aspiration
- Maximize social/language/intellectual skills
- Manage respiratory infections with chest physio, pulmonary toileting
What diagnostic tests can be ordered for a possible LMN lesion (anterior horn cell, peripheral nerve, NMJ, muscle)? (3)
- CK
- EMG
- Muscle biopsy
What are the 3 peripheral nerve diseases in childhood?
- Guillain-Barre syndrome
- Hereditary motor sensory neuropathy (Charcot-Marie Tooth disease)
- Tick paralysis
What are the main clinical features of Charcot-Marie-Tooth disease (hereditary motor sensory neuropathy)? (3)
- Pes cavus deformity of the feet (high arched)
- Bilateral weakness of dorsiflexion
- Eventually develop weakness and atrophy of the entire lower legs
What are often the earliest signs of myasthenia gravis? (2)
Ptosis and extraocular muscle weakness
- older children may complain of diplopia
- young children may hold their eyes open with their fingers
What is the 2 diagnostic tests for myasthenia gravis?
- IV edrophonium chloride (tensilon) -acetylcholinesterase inhibitor = blocks the enzyme so that more acetylcholine can bind to the few receptors that aren’t blocked by the auto-antibodies -see a transient improvement in strength and decrease in fatigability (esp ptosis)
- EMG: decremental response is seen due to repetitive nerve stimulation = fatigable weakness
3. Antibodies to AChR ( most Px have these Abs)
- ***muscle biopsy is NOT needed in most cases
A baby is born to a mother with myasthenia gravis. She exhibits generalized hypotonia and inability to suck.
How do you confirm the diagnosis?
What is your management?
When can you expect resolution?
Why: Infants born to moms with MG are affected because mom’s auto-antibodies cross the placenta. -
Confirmation of diagnosis: administer IM neostigmine and watch for improvement
Treatment: oral pyridostigmine or neostigmine 30 minutes before feeding until resoltuion occurs -
Resolution: approximately 3 wks (up to 10 wks)
What is the treatment of myasthenia gravis?
- Cholinesterase inhibitors: neostigmine IM q4-6 hr and before meals to improve swallowing
- Steroids
- Thymectomy (especially in patients with high titers of anti-Ach receptor antibodies)
- IVIG
- Plasmapheresis
What clinical features on exam can be seen in Duchenne muscular dystrophy?
- Gower sign
- Calf hypertrophy
- Proximal leg weakness
- Hyperlordosis
- Waddling gait
What investigations should be ordered to diagnose Duchenne muscular dystrophy?
Which is gold standard for diagnosis?
- Whole blood DNA probe - GOLD STANDARD - diagnostic -look for duplication or deletion of exons within DMD gene (will get an answer with this 70% of the time) -if duplication/deletion testing is negative, then should sequence the DMD gene
N.B. prenatal testing is possible/33 % represent new mutations
- **Muscle biopsy with muscle fiber degeneration and increased connective tissue -only do this if the genetic tests are negative!!!!
3. Elevated serum CK - raised in all patients….not spefically diagnostic
What is the inheritance pattern of myotonic muscular dystrophy (ie. Steinert disease)?
-
Autosomal dominant: Caused by the progressive expansion of the triplet repeat CTG in the myotonic dystrophy protein kinase gene on the long arm of chromosome 19
* 2. (ANTICIPATION): each succeeding generation is likely to get more extensive manifestations and earlier presentations of the disease*
A teenager presents to you with progressive distal extremity weakness and myotonia (difficulty with muscle relaxation). He is also found to have cardiac arrhythmia, cataracts, male pattern baldness and hollowing of muscles around temples, jaw and neck. His face is expressionless with a tented mouth. What is the diagnosis?
Myotonic dystrophy
What are the clinical features of malignant hyperthermia? (3) -
Clinical features
- Vitals: Rapid fever, hypotension
-
Resp:
- Rapid increase in CO2 (due to increased metabolic rate)
- Cyanosis - Organs: Muscle rigidity, Arrhythmias, Seizures
What is the Treatment of malignant hyperthermia?
- IV dantrolene (muscle relaxant)
- Sodium bicarbonate
- Cooling
What drugs that are ABSOLUTELY contraindicated in malignant hyperthermia?
- Succinylcholine
- Inhalational anesthetics
..since they can trigger malignant hyperthermia reaction:
What are the characteristic features of seizures seen in idiopathic childhood occipital epilepsy (Gastaut type)?
- timing?
- duration?
Brief, frequent occipital seizures with visual blindness and hallucinations
-timing: usually occur during the day
duration-brief < 5 minutes
What are the characteristic features of seizures seen in Panayiotopoulos syndrome? -timing? -duration of seizure?
Features of seizures Panayiotopoulos syndrome: Predominant autonomic symptoms with ictal emesis -always include in ddx for conditions like syncope, migraine, cyclic vomiting, motion sickness, etc.
- timing: usually occur at night
- duration: usually: > 5 minutes
What is the diagnostic criteria for Tourette syndrome? (3) -male:female ratio?
- Must include both motor AND vocal tics
- Occurs over the period of 1 year with no more than 3 consecutive tic-free months
- Onset prior to age 18 yo
***Male:female ratio for TS: 4:1
What are 2 common comorbid conditions seen with Tourette Syndrome?
- ADHD (50% of children with TS)
- OCD (33% of children with TS)
How can you distinguish between tics versus true involuntary movement disorders (ie. chorea or myoclonus)? (2)
With tics:
- Presence of premonitory sensory urge that is then relieved by the tic
- Ability to suppress tics voluntarily
What are the treatment options for tics? (2)
- Behavioural approach: comprehensive behavioural intervention for tics (CBIT)
- Medication: based on tic severity, functional interference, self-injurious aspects, etc. -no meds eliminate tics completely, just reduce to a state of tolerable function
-first line: clonidine (alpha 2 adrenergic agonist)
-second line: atypical neuroleptics (risperidone)
What are the 4 types of skull fractures and management of each?
- Linear = no treatment
- Diastatic (spreads apart sutures) = no treatment
- Compound (bone fragments breaking the skin surface) = EMERGENT SURGICAL DEBRIDEMENT but no prophylactic antibiotic therapy
- Depressed (edge displaced inferiorly) = if > 0.5-1 cm, need surgical elevation of bone fragments and repair of associated dural tears
***Any time you see a skull fracture, be concerned that the force was high enough to produce a possible underlying hematoma -don’t forget tetatnus prophylaxis
An infant presents to you a few weeks after a fall from the changing table with a soft, pulsatile palpable scalp mass. What is your diagnosis?
Leptomeningeal cyst: rare complication of linear skill fracture with separation of the edges of the fracture and laceration of the dura.
The arachnoid membranes can then be trapped between the edges of the fracture and results in herniation of fibrotic tissue/meninges/brain to form a soft tissue mass.
Treatment: -requires surgical excision of abnormal tissue and dural repair
What is a CSF leak?
When a skull fracture tears adjacent dura, creatining a communication between the subarachnoid space and the nose/sinuses/ear -
Inv: can see presence of air within the subdural/subarachnoid/ventricular space on CT which indicates a dural tear
What are 2 clinical signs suggesting uncal herniation?
- Unilateral 3rd nerve palsy
- Contralateral hemiparesis
***Temporal lobe is shifting across the tentorial edge and pushing on the brainstem
What is the most common cause of primary subarachnoid hemorrhage?
Berry aneurysm of one of the major cerebral arteries in circle of willis
What are the guidelines for determination of brain death?
- 8 criteria
- 2 possible ancillary tests
- rules for newborns 1 yo?
Requires a cause of coma sufficient to account for the loss of brain function should be established -in the setting of hypoxic-encephalopathic injury (ie. from cardiac arrest), exam must be delayed more than 24 hours post injury
N.B. -in trauma patient with mechanical head injury, exam doesn’t have to be delayed!!
- 2 physicians must be present
- The physicians must be qualified to do the assessment
- Body temperature > 34 (>36 for newborns)
- No confounding drug intoxication
- No spontaneous movements, communication or interaction with the environment
- No supraspinal response to externally applied stimuli
- Absence of brainstem reflexes:
i. pupillary light
ii. oculocephalic (dolls eye maneuver)
iii. oculovestibular (cold caloric stim)
iv. corneal
v. oropharyngeal (gag)
vi. tracheal (cough) = tug on ETT - Apnea test: 10 min period of preoxygenation with 100% O2, take an art gas. Then turn off ventilator and watch for spontaneous breathing, repeat art gas and see if PaCO2 rises to > 60. -CO2 has to increase by 20 mm Hg AND rise above 60 mm Hg AND pH has to be 1 yo: need two physicians but can perform the exam concurrently
What are the 3 main categories of etiologies of hydrocephalus?
- Obstruction of CSF pathways: -Foramen of Monro obstruction: craniopharyngioma, germinoma, pituitary tumor, intraventricular tumor (ependymoma), tuberous sclerosis -Aqueduct of sylvius (cerebral aqueduct) obstruction: midbrain tumor, postinfectious -impaired flow from 4th ventricle to the foramen of magendie and two lateral foramina of luschka -dandy walker malformation -arnold chiari malformation
- Overproduction of CSF: choroid plexus papilloma
- Defective resorption of CSF (ie. communicating hydrocephalus): hypoplasia or destruction of arachnoid villi (absorbs CSF)
What is Parinaud syndrome?
Sunsetting eyes =
Mecanism: dilation of the cerebral aqueduct compresses the surrounding periaqueductal vertical gaze centre , resulting in paresis of upward gaze -
Causes: seen with CNS tumors or hydrocephalus
What are 2 most common organisms that infect VP shunts?
- Staph epidermidis
- Corynebacterium
What is the difference between neuronal degenerative disorders and leukodystrophy?
-Neuronal degenerative disorder: diseases affecting grey matter -
Leukodystrophies: diseases affecting white matter
Which enzymatic disorders are most common causes of neurodegenerative dseases? (3)
- Lysosomes
- Mitochondria
- Peroxisomes
- any patient presenting with a degenerative neurologic condition should have leukocytes or skin fibroblasts harvested for measurement of lysosomal, peroxisomal, mitochondrial enzymes
How do you classify gray matter neuronal degeneration conditions?
-what are the conditions in each class? (4 each)
Separate into disorders WITH or WITHOUT hepatosplenomegaly
With HSM:
- Mucopolysaccharidoses (Hurler syndrome, Hunter syndrome, Sanfilippo syndrome)
- Mucolipidosis
- Niemann-Pick disease
- Gaucher disease
Without HSM:
- Tay-Sachs
- Rett syndrome
- Neuronal ceroid lipofuscinosis
- Mitochondrial diseases: ie. MELAS
What are clinical features of mucopolysaccharidoses? (6) -cause?
-examples?
Caused by defective lysosomal enzymes resulting in the accumulation of mucopolysaccharides
- Dwarfism
- HSM
- Kyphoscoliosis
- Coarse facies
- Cardiac abnormalities
- Corneal clouding -
Examples of mucopolysaccharidoses:
- Hurler syndrome (most severe)
- Hunter Syndrome
- Sanfilippo syndrome
What are the clinical features of Niemann-Pick disease? -cause?
Cause: deficiency of sphingomyelinase thus sphingomyelin accumulates in cells of the reticuloendothelial system (liver, spleen, lungs, bone marrow, brain)
- Intellectual retardation/regression
- Myoclonic seizures
- HSM
- Hypotonia
- Retinal cherry red spots
What are clinical features of Tay-Sachs disease? -cause?
Cause: gangliosidosis caused by deficiency of hexosaminidase A = accumulation of GM2 ganglioside in cerebral gray matter and cerebellum
Clinicial: -Normal until 6 months of age, then develop irritability, listlessness, hyperacusis, intellectual retardation and retinal cherry-red spot -overall: blindness, convulsions, spasticity, opisthotonos
What are the clinical features of MELAS?
Mitochondrial myopathy Encephalopathy Lactic Acidosis Stroke like episodes
What are the prominent common clinical features of leukodystrophies? (6)
- Spasticity
- Ataxia
- Optic atrophy
- Peripheral neuopathy
- Seizures
- Dementia
What are examples of leukodystrophies? (3)
- Metachromatic leukodystrophy: AR lipidosis caused by deficiency of arylsulfatase -demyelination of CNS/peripheral nervous system
- Krabbe disease: AR lipidosis caused by deficiency of galactocerebrosidase
- Adrenoleukodystrophy: X-linked with progressive central demyelination and adrenal cortical insufficiency -inability of peroxisome to degrade unbranced very long chain fatty acids -
most common presentation = boys in early school years who develop subtle behaviour changes and intellectual deterioration, followed by cortical visual and auditory deficits and stiff gait
What are the clinical features of Friedreich ataxia? (6)
Manifests in early teenage years:
- Ataxia/dysmetria
- Dysarthria
- Pes cavus/hammer toes
- Diminished proprioception/vibration
- Nystagmus
- Hypertrophic cardiomyopathy
***think cerebellar/brainstem dysfunction, feet and heart
What are clinical features of ataxia-telangiectasia?
-findings on lab investigations?
AR genetic disorder of DNA repair
- Neurologic symptoms: ataxia, dystonia, chorea, swallowing difficulties, oculomotor apraxia (makes head movements to compensate for inability to generate saccadic eye movements), intellect is preserved, wheelchair bound by childhood
- Telangiectasias: conjunctival, skin
- Premature grey hair
- Recurrent sinopulmonary infections
***Think: neuro, skin, immunological deficiency, gonadal dysgenesis
Lab findings: high AFP, low IgA
What are the clinical features of Lesch-Nyhan syndrome? -treatment?
X-linked; deficiency of an enzyme that leads to excess uric acid
- Psychomotor retardation
- Spasticity
- Severe self-mutilation
- Gouty arthritis with renal calculi
***treatment:
- allopurinol to treat hyperuricemia and renal complications but there is
- no effective treatment for the neurologic disease
What are clinical features of Wilson disease?
- lab finding?
- treatment?
AR inborn error of copper metabolism
- Neuro symptoms from copper deposition in the CNS: in teenage years, see dysarthria, dysphasia, drooling, fixed smile, tremor, emotional lability
- Abnormal copper deposition in the liver = cirrhosis
- Kayser-Fleischer rings from copper deposition in the cornea
-lab finding: decreased serum ceruloplasmin
-treatment: copper-chelating agent = oral penicillamine
What 2 CNS tumors occur commonly in neurofibromatosis type 1?
- Optic nerve glioma
- Astrocytomas
What 3 tumors are seen in neurofibromatosis type 2?
- Schwannonmas: acoustic, cranial or spinal nerves
- Meningiomas
- Gliomas
What is schizencephaly?
Symmetrical abnormal bilateral clefts within the cerebral hemispheres that extend from the cortical surface to the ventricular cavity
What is lissencephaly?
Smooth brain with absence of sulcation
What is the classic triad of Dandy-Walker malformation?
- Complete or partial agenesis of the cerebellar vermis
- Cystic dilation of the 4th ventricle
- Enlarged psoterior fossa
Which neurodegenerative conditions have retinal cherry-red spots? (4)
-what causes the retinal cherry spots?
Retinal cherry spots: abnormal accumulation of lipids in ganglion cells surrounding the center of a normal retinal macula
- Niemann-Pick disease (has HSM)
- Tay-Sachs (GM2 gangliosidosis) (does NOT have HSM)
- Mucolipidoses
- Sandhoff disease (gangliosidosis type 2)
What is the enzyme deficiency seen in Tay-Sachs disease?
Deficiency of hexosaminidase A (a gang of 6 J’s)
How do you confirm a diagnosis for malignant hyperthermia?
Caffeine contracture test:
muscle biopsy tissue specimen is exposed to caffeine = muscle spasm is diagnostic for malignant hyperthermia
What is ADEM?
Acute disseminated encephalomyelitis
-initial inflammatory, demyelinating event with multifocal neurological deficits accompanied by encephalopathy
What are possible triggers for ADEM?
- Preceding infection: viruses, mycoplasma
- Postvaccination
***Essentially have CNS autoantigen production and antibody formation
What are the clinical features of ADEM? (6)
- findings on MRI
- usual age of presentation
- Lethargy
- Fever
- Headache
- Vomiting
- Seizures
- HALLMARK = ENCEPHALOPATHY (confusion, irritability, coma)
-findings on MRI: large, multifocal enhancement in white and grey matter of cerebrum, cerebellum and brainstem
-usual age of presentation < 10 yo
What is the treatment for ADEM?
- IV high dose steroids to decrease inflammation,
- consider IVIG or
- plasmapheresis
Which metabolic condition is associated with poor growth, developmental delay, and risk of STROKES/THROMBOEMBOLIC EVENTS?
Homocystinuria
A baby presents to you with a prominent occiput, broad forehead, absent anterior fontanelle and a long and narrow head. Otherwise normal. What is your diagnosis?
Primary craniosynostosis of the sagittal suture leading to scaphocephaly = long and narrow skull = boat shaped head!
A patient presents to the ED with sudden onset of headache with fall to the floor. On exam, he has a left central facial weakness, left hemiparesis with conjugate ocular deviation to the right. What is the diagnosis?
Stroke!
Abrupt onset of hemisyndrome with eyes looking AWAY from the paralyzed side indicates acute stroke.
What is the difference between the weakness seen in myotonic dystrophy versus other muscular dystrophies?
- In Myotonic dystrophy weakness and wasting is DISTAL first (will progress to proximal) whereas other myopathies have initial proximal muscle weakness -in myotonic dystrophy, will see weakness in hand movement
What associated features on exam can be seen in myotonic dystrophy? (4)
- Ptosis
- Baldness
- Cataracts
- Hypogonadism
A patient presents with signs of meningitis, pleiocytosis in CSF with high protein and low glucose and a CT scan with contrast enhancement of the basal cisterns. What is your diagnosis?
TB meningitis on CT head:
- Exudate in the basal cisterns is classic
- can also see tuberculomas,
- ringed lucencies,
- infarction
What is the classic finding on pathology of an astrocytoma?
Rosenthal fibers
What is the enzyme deficiency seen in GM 1 Gangliosidoses? -clnical features?
Complete lack of acid Beta-galactosidase activity
-clinical features:
CNS degeneration, HSM, macroglossia, coarse facial features, cherry-red spots, gingival hyperplasia, edema of extremities
In which age group are night terrors most commonly seen?
Age 5-7 yo
What are the clinical features of PHACE syndrome?
- Posterior fossa malformations
- Hemangiomas
- Arterial anomalies
- Coarctation of the aorta
- Eye abnormalities
***Consider in any child with a unilateral facial lesion and blindness
What is Arnold-Chiari malformation?
Downward displacement of cerebellar tonsils through the foramen magnum -may cause hydrocephalus
-4 types total
What is an AVM?
- clinical features of unruptured AVM?
- risk of rupture?
- clinical features of ruptured AVM?
AVM = abnormal connection between arteries and veins (congenital)
- clinical features of unruptured AVM:
1. Intracranial bruit heard through open fontanelle
2. High output cardiac failure due to abnormal shunting between arterial and venous systems
3. Local brain ischemia = focal neurological deficits, seizures, headaches
Risk of rupture: 2% per year
Clinical features of ruptured AVM: sudden, severe headache and loss of consciousness, with rising ICP due to intracranial hemorrhage with subsequent coma and death if no intervention
What is the most common ortho problem seen in NF-1?
Scoliosis
What is the inheritance pattern of neurofibromatosis-1?
Autosomal dominant
What is the underlying cause of trigoncephaly?
- clinical features?
- treatment?
Cranosynostosis of metopic suture
- clinical features: pointed forehead, hypotelorism
- treatment: craniostomy with removal of metopic suture
During what phase of sleep does neonatal sleep myoclonus occur in?
-prognosis?
Non-REM sleep = bilateral rhythmic jerks involving upper and lower limbs -can be reproduced by slow rocking of the infant in a head to toe direction -no autonomic changes seen, occur ONLY in sleep, stop with awakening -this helps differentiate these from seizures
Prognosis: -resolve spont at 2-3 mo age
At what time of the day does benign myoclonus of infancy usually occur?
- age of onset?
- prognosis?
- how to differentiate between infantile spasms?
Benign nonepileptic infantile spasms =
brief tonic contractions occur in clusters
-USUALLY at mealtimes
Age of onset: first occur at 3-8 mo of age, then resolve spont at 2-3 yo -
How to Ddx between infantile spasms?
really cannot differentiate on history or physical exam between these and infantile spasms (REMEMBER YOUR LITTLE BABY FROM ED) and thus, need to refer to neuro asap and get EEG/MRI -if EEG and MRI are normal and baby is developmentally normal, then this is benign myoclonus of infancy.
What is the differential diagnosis of CN 7 palsy?
-what is the diagnosis in a baby with just mouth drooping and other facial muscles are functioning well?
- Idiopathic (Bell’s Palsy)
- Congenital (Mobius syndrome)
- Traumatic - forceps delivery, LGA
- Infectious - varicella, HSV, lyme disease
- Other - cholestoetoma, tumors -
diagnosis: congenital absence of the depressor angularis oris -sparing of the nasolabial fold
What are the two types of GM2 gangliosidoses?
- Tay Sachs: hexosaminidase A deficiency
- Sandhoff disease
What is the most common reason for surgical intervention in a child born with a myelomeningocele?
Hydrocephalus = needs surgical repair within a day or so after birth, often with a VP shunt too
What is the most common cause of spastic diplegia?
PVL
What is the first line treatment for acute migraine?
-what about tension headache?
Migraine = NSAIDs
Tension headache = acetaminophen
How can you differentiate between positional plagiocephaly vs. craniosynostosis?
In positional plagiocephaly, should have ipsilateral anterior displacement of the ear!!!
How do you differentiate post infectious cerebellitis from meningoencephalitis? (3)
-what are 3 potential etiologic agents causing post infectious cerebellitis?
- No fever
- No altered LOC
- No seizures
3 potential etiologic agents:
- VZV
- Coxsackie
- Echovirus
What is the concern with use of valproic acid or carbamazapine during pregnancy?
Increased risk for neural tube defects! Any postmenarchal woman who is taking valproic acid should ALSO be taking folic acid 4 mg daily!
What is the diagnostic criteria for migraine?
- At least 5 attacks PLUS
- Headache lasts 1-72 hrs PLUS
- Two of:
a. Bilateral location
b. pulsating quality
c. moderate to severe intensity
d. aggravated by physical activity PLUS - One of: a. nausea or vomiting b. photophobia or phonophobia
What are the criteria for a positive apnea test in diagnosis for brain death?
-when would ancillary testing be required?
- CO2 has to increase by 20 mm Hg
- CO2 has to rise ABOVE 60 mm Hg
- pH has to be < 7.28
Ancillary testing would be required in cases where the apnea test is impossible - ie. the patient desaturates too quickly and can’t be left off the ventilator for long periods of time -thus need CT angio to look for cerebral blood flow (should be NONE) -EEG is NO LONGER RECOMMENDED as an ancillary test
Red flags for neurological disorder in newborn on prenatal history? (5)
- Premature birth
- Decreased fetal movement
- Polyhydramnios due to impaired swallowing (weakness)
- Trouble establishing feeding?
- Resuscitation required after birth?
How can reflexes help you differentiate between muscle vs. nerve problem?
Nerve problem = reflexes will be completely absent -
muscle problem = reflexes will be present or reduced
What investigation should be ordered after 1 unprovoked seizure? -what about 2nd unprovoked seizure?
After 1 unprovoked seizure: EEG!!!!!
After 2 unprovoked seizures: MRI Head
What is one treatment you can start for breath holding spell?
Iron supplements
Which antiepileptic causes renal calculi? -
which causes significant behavioural issues?
- which causes gingival hyperplasia and coarsening of facies?
- which causes stevens johnsons syndrome?
Bilateral renal calculi = topiramate
Significant behavioural issues = keppra
Gingival hyperplasia and coarsening of facies = phenytoin
Stevens johnsons syndrome = lamotrigine
What are the health surveillance guidelines for neurofibromatosis type 1?
Yearly!
- Check BP
- Ophtho exams
- MRI any suspected plexiform neurofibromas
- Monitor growth: short stature, delayed puberty (have their own growth charts)
- Developmental assessment/school support
- Scoliosis exam
- Vision screening/hearing
What is the Prognosis of GBS?
spontaneous recovery within 2-3 wks with return of full strength usually
Spastic diplegia MRI findings?
PVL
periventricular cysts or scars in white matter
ventricular enlargement
Spastic diplegia causes?
damage to the white matter due to
- prematurity,
- ischemia, infection,
- endocrine/metabolic (thyroid)
Spastic quadriplegia MRI findings?
PVL, multicystic encephalomalacia
Spastic quadriplegia causes?
ischemia, infection, endocrine/metabolic/genetic/developmental
Hemiplegia MRI findings?
- in utero or neonatal stroke
Hemiplegia causes?
- thrombophilic disorders,
- infection,
- genetic/developmental/periventricular hemorrhagic infarct
Extrapyramidal (athetoid, dyskinetic) MRI findings?
asphyxia = symmetric scars in putamen and thalamus, kernicterus = scars in globus pallidus and hippocampus, mitochondrial = scars in globus pallidus, caudate, putamen, brainstem
Extrapyramidal (athetoid, dyskinetic) causes?
asphyxia, kernicterus,
mitochondrial, genetic/metabolic
What is occult spinal dysraphism?
- cutaneous manifestations (hemangioma, discoloration of the skin, pit, hairy patch)
- overlying closure defect of the posterior vertebrae (L5-S1 most commonly) and can be associated with
- developmental abnormalities of the spinal cord (tethered cord for example)
What is the progresion of signs in Duchenne muscular dystrophy?
Infancy- no Sx
2 yrs- gait problems, cannot walk well
6 yrs- arm weakness
12 yrs- wheelchair dependent
What non muscular signs do you get in Duchenne muscular dystrophy?
CNS: Cognitive and behavioral dysfunction
Heart: Cardiomyopathy
Skeletal/lung: Scoliosis and respiratory decline
When is the timing of death and cause in Duchenne muscular dystrophy?
Between 20-30 yrs from respiratory and cardiac dysfunction
What is the genetics of Duchenne muscular dystrophy?
- X linked disorder (Xp21)
- 1:3500 boys
- From gene mutation of Dystrophin that results in a non functional protein
- Carrier females may have mild weakness or
cardiomyopathy
What is the genetics of Beckers muscular dystrophy?
- 1 in 20,000 male births / X-linked
- mutations in dystrophin gene result in
reduced amount of or partially functional protein
What is the progression and prognosis of Beckers Muscular dystrophy?
- Muscle involvement > 10 yrs, slower cf DMD
- Ambulatory until 18 years or beyond
- Life expectancy x 2 cf DMD
What are the signs of Beckers Muscular dystrophy?
- Calf pseudohypertrophy & Pes cavus
- Cardiac and CNS involvement unusual
What is the management of Duchenne muscular dystrophy?
1. Steroids: -prednisone of 0.75 mg/kg/day, strengthening effect lasts for up to 3 years
- OT and physio: Braces, wheelchairs etc
- Treat cardiac failure and respiratory infections
What are the signs of myotonic dystrophy?
1. Head:
- progressive male pattern baldness
- hollowing of muscles around temples, jaw and neck.
- face is expressionless with a tented mouth and ptosis
- cataracts
2. Muscles: Distal extremity weakness and myotonia (difficulty with muscle relaxation).
- Other: Cardiac arrhythmia, endocrinopathies, immunodeficiencies, IQ impairments
What is myotonia?
Myotonia is a involuntary failure of relaxation that follows voluntary contraction
How do you detect myotonia?
- Hands; grip (e.g., handshake)
- Eyes; forced eyelid closure (or delayed eye opening in crying infants), lid lag after upward gaze
- Percussion over various sites (e.g., thenar eminence, tongue).
How does congenital myotonic dystrophy present?
Timing: during the immediate newborn period, due to rapid expansion of the CTG repeat length
- hypotonia, facial diplegia with “tenting” of the upper lip, ptosis
- Absent sucking (poor feeding) and moro reflexes. Also
gastrointestinal dysmotility
- Respiratory distress-diaphragmatic weakness, especially right hemidiaphragm- may need prolonged IPPV
- CNS: Can have HIE type symptoms due to atony of uterine muscles during labor
What is the prognosis and course of congenital myotonic dystrophy present?
1. Infancy:
- If need IPPV mortality of 23%
- normally good motor skills improvement and most ambulate independently
2. Later:
- 50% have mental retardation
- 2nd progressive phase in teens with potentially fatal arrhythmias
How does juvenile myotonic dystrophy present?
Timing: < 10 yrs
- progressive weakness and atrophy of the facial and
SCM and shoulder girdle…+/- Clinical myotonia
- Impaired hearing and speech, and excessive
daytime sleepiness.
- may be mental retardation.
What OBGYN Hx features raise concern about maternal myotomic dystrophy?
- spontaneous abortions
- polyhydramnios
- decreased fetal movements
- delays in second-stage labor
- retained placenta
- postpartum hemorrhage
What are the inheritance patterns of the various neurocutaneous syndromes?
Neurofibromatosis:
Tuberous sclerosis complex:
von Hippel-Lindau syndrome:
Incontinentia pigmenti:
Sturge-Weber syndrome:
Klippel-Tre´naunay-Weber syndrome:
Ataxia telangiectasia
Neurofibromatosis: Autosomal dominant 1:3,000, NF1 gene,
Tuberous sclerosis complex: Autosomal dominant
von Hippel-Lindau syndrome: Autosomal dominant
Incontinentia pigmenti: X-linked dominant
Sturge-Weber syndrome: Sporadic
Klippel-Tre´naunay-Weber syndrome: Sporadic
Ataxia telangiectasia
What the the genetics of Tuberous sclerosis (TSC)?
Autosomal dominant, 1:10,000
66% sporadic, ? due to new mutations
Germline mosaicism is rare- can result in normal parents having multiple children with TSC
Mutations of what presumed suppresor genes cause TS?
- TSC1 (chromosome 9) and TSC2 (chromosome 16), have been identified.
- Genetic testing is now available
WHAT ARE THE D I A G N O S T I C F E A T U R E S F O R
T U B EROUS SCLEROSIS COMPLEX?
NOTES:
Definite TSC: 2 major or 2 major + 2 minor
Probable and possible TSC: had fewer features
No single finding was considered pathognomonic for TSC.
What are the systems affected by tuberous sclerosis?
1. CNS: (MR, autism, ADHD)
a. Brain:
-Tubers in cortex- MR + seizures.
- Sub ependymal nodules: Can mutate into Sub ependymal giant cell astrocytomas causing hydrocephalus
b. Eye: Retinal hamartoma
2. SKIN:
Ashleaf spots, Facial angiofibromas (adenoma sebaceum) , shagrene patch
3. Heart: rhabdomyoma
Timing: largest prenatally and in infancy
May cause arrhythmias and obstruction
4. Kidney: Angiomyolipoma of the kidney
May turn malignant..commonest cause of death in adults with TSC
5. Lung: lung hamartoma,
What types of seizures are seen TSC?
- 85% of patients have seizures
- infantile spasms are the most common.
- Also - Tonic and atonic + Complex partial seizures are
What is the classic triad of TSC?
- Seizures
- Mental retardation
- Facial angiofibroma (adenoma sebaceum)
However, less than one third of patients will develop these classic features.
S K I N F I N D I N G S I N T U B EROUS SCLEROSIS?
What is the most common malignancy associated with neurofibromatosis?
Optic pathway glioma.
- low-grade astrocytomas in 15% of patients
- 50% become symptomatic, so Rx is not always indicated. - > - 70% of Px with optic pathway glioma have NF1
- So a new Dx of this optic glioma- check for NF1
What are the 3 main general causes of macrocephaly?
-
Increased intracranial pressure:
- dilated ventricles (e.g., progressive hydrocephalus of various causes),
- subdural fluid collections,
- intracranial tumors, or
- benign increased intracranial pressure (i.e., pseudotumor cerebri) from various causes
2. Thickened skull: Caused by cranioskeletal dysplasias (e.g., osteopetrosis) and various anemias
3. Megalencephaly (enlarged brain): familial/syndromic (e.g., Sotos syndrome), or caused by storage diseases, leukodystrophies, or neurocutaneous disorders (e.g.,NF1)
What are the 2 BENIGN CHILDHOOD EPILEPSY WITH OCCIPITAL SPIKES?
- Panayiotopoulos syndrome
- benign occipital epilepsy of childhood (Gastaut syndrome).
When does Benign occipital epilepsy of childhood (Gastaut syndrome) present?
8 to 9 years
somewhat later than in Panayiotopoulos syndrome
What are the clinical features of Gastaut syndrome ?
- visual symptoms: blindness or visual hallucinations
2. Seizures; Hemiclonic activity, automatisms, may secondarily generalize.
- Headache: migraine-like headache, and versive movements can occur, and seizures Compared with Panayiotopoulos syndrome, seizures are more frequent and of shorter duration, usually less than five minutes. Most seizures occur in the daytime.
How does EEG in Gastaut syndrome differ from Panayiotopoulos syndrome?
The interictal EEG is similar to that in Panayiotopoulos syndrome…butthe diferences are:
- epileptiform activity is more predominantly occipital,
- often occurs in long bursts of spike-wave complexes
- is markedly activated by eye closure
4. Background activity is normal.
What is prognosis in gastaut syndrome?
- Duration of epilepsy is longer and seizures can be frequent . 2. Carbamazepine appears to be most commonly prescribed in published cases [99]. An open-label study suggested that levetiracetam may be efficacious as well [102]. Seizures may persist into adulthood, but remit beforehand in two-thirds of patients
