nelson essentials 2 neuro

Question 1

How is ataxia telangiectasia inherited?

Answer 1

autosomal recessive
most common degenerative ataxia
present with ataxia around age 2
mid-childhood, get telangiectasia
can also have abnormalities in immune function and increased risk of tumours -lead to death

Question 2

When does Freidrich ataxia present?

Answer 2

late elementary years - ataxia, dysmetria, dysarthria, diminished proprioception and vibration, absent DTRs, and nystagmus
many get hypertrophic cardiomyopathy and skeletal abnormalities (high arched feet, hammer toes, kyphoscoliosis)

Question 3

acute dystonic reaction

Answer 3

caused by antipsychotic and anti emetics

usually involve the face and neck with torticollis, retrocollis, tongue protrusions, oculogyric crisis

Question 4

Tardive dyskinesia

Answer 4

after chronic antipsychotic drug use - face involvement - tongue thrusting and chewing

Question 5

how long do tics need to last for Tourette syndrome diagnosis?

Answer 5

> 12 months of motor tics with vocal tics

Treatment of tics: habit reversal, alpha adrenergic receptor agonists

Question 6

What is Cheyne Stokes respiration?

Answer 6

hyperventilation with crescendo-decresendo pattern, alternates with shorter period of apnea
can also see with metabolic condition, heart failure, or primary resp disease

Question 7

Important parts of neuro exam on a comatose patient

Answer 7

need to see if the brainstem works

1. doll’s eye maneuver
2. cold caloric stimulation - oculovestibular response - cold water into ear canal, conscious person will have nystagmus and vertigo, in comatose, will have tonic eye deviation towards ear that is irrigated (if patient not brain dead and brainstem functioning), if complete loss of oculomotor function, then eyes stay straight ahead-indicates brainstem failure

Question 8

GCS

Answer 8

E - 4: 
1- nothing
2- with stimulation
3 - with verbal
4- spontaneous

V - 5
1- nothing
2- incoherent moans
3- few words 
4- confused speech 
5- oriented speech 

M - 6
1- nothing
2- decerebrate
3- decorticate
4- move away from pain
5- localize pain
6- spontaneous purposeful movement

Question 9

3 major categories that cause coma

Answer 9

1. metabolic/toxic
2. infectious
3. structural

Question 10

Types of herniation

Answer 10

1. transtentorial (unilateral - uncial or bilateral): downward displacement of supratentorial brain tissue into infratentorial compartment, compresses the cerebral peduncles, midbrain, third cranial nerve and posterior circulation
   - clinicaL: headache, altered LOC, dilated ipsilateral pupil, CN III palsy, hemiparesis, decerebrate posturing, Cushing triad, respiratory arrest
2. Subfalcin herniation - brain tissue under the flax cerebra, comprises the anterior cerebral artery
   clinical: weakness, bladder incontinence, coma
3. foramen magnum herniation: cerebellar mass or edema - downward displacement of cerebellar tonsils, compresses the medulla oblongata and upper spinal cord - bradycardia, bradypnea, hypertension, death

Question 11

Why do you get a blown pupil with uncial herniation?

Answer 11

temporal lobe displaces over the tenteorial edge - unilateral third nerve palsy and hemiparesis (either ipsilateral or contralateral depending on which peduncle is compassed)

Question 12

Increased ICP causes:

Answer 12

1. structural - bleed, space occupying lesions, inflammatory
2. metabolic derangements: hepatic encephalopathy, Reye syndrome, hyponatremia, lead encephalopathy, DKA, HIE (**can cause increased ICP without CT abnormalities which are obvious)

Question 13

Blood in CSF, main causes

Answer 13

1. subarachnoid hemorrhage

2. HSV

Question 14

What is a confusional migraine?

Answer 14

basilar artery or confusional migraine - accompanied by agitation, ataxia, cortical blindness, vertigo or CN palsies, can have headache before or after the neuro signs
used to think these signs were from basilar artery problem, now thought to be more of a brainstem problem (big Nelson)
these can last hours

Question 15

types of skull fractures

Answer 15

1. linear - no treatment
2. diastatic - spreading the suture - no treatment, but may have underlying hematoma
3. depressed - inferior displacement of edge
4. compound - bone breaks the skin

Question 16

Which skull fractures need surgical management

Answer 16

small depressed fractures with depression >0.5-1cm, need surgical elevation of bone and repair dural tears
compound fractures: emergency surgery and TETANUS - high risk of brain injury

Question 17

Types of post traumatic seizures

Answer 17

1. impact seizures: within seconds of the injury, presumed to reflect a direct mechanical stimulation to the cortex. prognosis is excellent, likelihood of later epilepsy is negligible
2. Early post traumatic seizures: within the first week of the head injury - likely from localized area of cerebral contusion or edema - pretty good long term prognosis
3. Late post traumatic seizures - more than a week after the trauma, most likely indicate an area of cortical gliosis or scaring that can lead to long term epilepsy

Question 18

Types of hydrocephalus

Answer 18

1. obstructive/noncommunicating hydrocephalus - when the CSF can’t drain (blocking)
   Causes of why this happens: abnormality of aqueduct or lesion in the 4th ventricle
   - aqueductal stenosis is the most common cause (can be AR inherited, with neurofibromatosis, with other neural tube problems)-
   - can also be secondary to infection - i.e. neonatal meningitis, SAH, or intrauterine viral infection (look at eyes for todo), mumps infection also
   - vein of Galen malformation
   - posterior fossa: tumors, Chiari malformation, Dandy-Walker syndrome
2. Nonobstructive/communicating - most commonly from SAH, usually from iVH in a perm - blood in the subarachnoid villi will obliterate the cisterns, can also get similar mechanism from penumococcal and TB meningitis, leukaemia infiltrates
3. too much CSF - from choroid plexus papilloma

Question 19

Metabolic disorders that cause megalencephaly

Answer 19

1 lysosomal diseases - Tay-Saches, gangliosidosis, mucopolysacchridoses

2. aminoacidurias (ie maple syrup)
3. leukodystrophy
4. cerebral gigantism
5. neurofibromatosis
6. familial megalencephaly - AD trait, delayed motor milestones and hypotonia but normal intelligence

Question 20

Most common type of craniosynostosis

Answer 20

1: sagittal - 80% are male, most common affecting a single suture -

#2: coronal - more in girls
lamboid -
metopic - causes trigoncephaly

Question 21

Treatmetn for craniosynostosis

Answer 21

big Nelson: premature fusion of only one suture rarely cause neuro deficit
sole indication for surgery to help with appearance
prognosis depends on which suture and on degree of disfigurement
more likely to have neuro findings with 2 or more sutures

Question 22

Pseudotumor cerebri

Answer 22

daily headaches associated with diplopia, abducens palsy, transient visual observations and papilledema
vomiting less insidious
if not treated can get permanent visual loss
Causes (baby Nelson plus some big nelson):
medications: tetracycline, (and the other cycline drugs also ) vitamin A excess or deficiency , OCP, isoretinoin for acne (especially with tetracycline), heme disorders, Wikott-Aldridge
Endocrine/metabolic: galactosemia, thyroid disease, hypoparathyroidism, pseudoparathyroidism, hypophaosphatasia, Addison disease, long term steroids or withdrawal of steroids, GH treatment, refeeding
obesity -
pregnancies
infections: roseola, sinusitis, OM/mastoiditis, Guillain Barre
Treatment: acetazolamide or another diuretic

Question 23

Types of neurodegenerative disorders

Answer 23

grey matter - neuronal degenerative disorders: early seizures and intellectual impairment
white matters - leukodystrophies : early UMN signs and progressive spasticity
many are from sub cellular organelles (i.e. lysosomes, mitochondria, peroxisomes) **therefore any patients with degenerative neurologic condition of unknown cause should have leukocytes or skin fibroblasts harvested for measurement of a standard battery of lysosomal peroxisomal and mitochondrial enzymes
should also do neuroimaging with MRI - should see leukodystrophy changes on MRI

Question 24

Sphingolipidosies:

Answer 24

what they are: intracellular storage of lipid substrates resulting from defective catabolism of the sphingolipids in cellular membranes
autosomal recessive inheritance
infantile forms are the most severe - 
1. Niemann Pick Disease
2. Gaucher disease
3. GM1 gangliosidoses
4. GM2 Gangliosidosis
5. Krabbe disease
6. Metachromic leukodystrophy

Question 25

cognitive regression, HSM, jaundice, seizures, interstitial lung disease, cherry red spots -what diagnosis to think of

Answer 25

Niemann pick disease seizures are myoclonic seizures in first year of life also can have hypotonia can do genetic testing for SMPD1 mutations

Question 26

spasticity, hyperextension, extraocular palsies, trismus, difficulty swallowing, hepatosplenomegaly, cytopenia, what diagnosis to think of?

Answer 26

Gaucer disease

Question 27

hyper startle reflex, cherry red spots then irritability, hyperacusis, progressive weakness, blindness, convulsions, spasticity , diagnosis and test?

Answer 27

Tay Sachs | test is the beta hexosaminidase enzymatic activity

Question 28

10 year old with academic difficulties, behavioural problems, gait abnormalities, vomiting and hypotension. Diagnosis to think of?

Answer 28

X linked adrenoleukodystrophy boys X linked present between age 5-15 year old with above plus seizures, spasticity, ataxia and swallowing trouble MRI: symmetric abnmal white matter signal in parietal-occipital regions can get adrenocortical insufficiency in 20-40% of patients with X linked adrenoleukodystrophy should consider this diagnosis in any male with primary adrenocortical insufficiency

Question 29

coarse facies, short stature, kyphoscoliosis, HSM, cardiovascular abnormalities, corneal clouding, neurologic involvement (intellectual disability, spasticity, deafness, and optic atrophy) after 6 months of life, diseases to hunk of

Answer 29

mucopolysaccharidosis most severe is Hurler syndrome diagnosis is by lysosomal enzymes and/or by urinary glycosaminoglycan excretion

Question 30

patient who presents with mitochondrial myopathy, encephalopathy, lactic acids sand stroke like episodes

Answer 30

melas diagnosis of mitochondria disorders is hard screening can be blood and serum lactate and pyruvate (reasonable)

Question 31

What are the serum ceruloplasmin levels in wilson disease

Answer 31

low treatable and degenerative condition -signs of cerebellar and basal ganglia dysfunction can get cirrhosis, as well as copper in peripheral cornea usually start symptoms in teenage years -dysarthria, dysphasia, drooling, fixed smile, tremor, dystonia and emotional lability Treatment: penicillamine (copper chelation_)

Question 32

Neurofibromatoses

Answer 32

autosomal dominant changes in nerves, skin and bones NF-1 more common

Question 33

NF-1

Answer 33

any 2/7 features 1. six or more cafe au lait macules >5 mm in diameter in prepuberty and >15 mm in post puberty - **in almost 100% of patients; present at birth but increase in size; spare the face 2. axillary or inguinal freckling 3. iris Lisch nodules (pigmented hamartomas of the iris) 4. 2 or more neurofibroma or 1 plexiform neurofibroma - usually in skin/can also be along peripheral nerves and blood vessels or within viscera 5. osseus lesions: sphenoid dysplasia/cortical thinning 6. optic glioma in 15% of patients - mostly low grade astrocytomas - main CNS timor <10 year old with NF-1 - need to see annual optho 7. first degree relative with NF-1 diagnosed on previous criteria

Question 34

Complications to warn about in NF-1

Answer 34

1. neurological complications - including learning disability (30%), seizures (8%), cerebral aneurysms/stenosis, precocious puberty, neoplasms (3%) which can be malignant , scoliosis, hypertension (from renal vascular stenosis/pheochromocytoma)

Question 35

NF-2:

Answer 35

less common than NF-1 1/4 of following features 1: bilateral vestibular schwannomas is the classic finding neurologic, eye and skin lesions multiple intracranial and spinal tumors, scwannomas of other cranial and spinal nerves, meningiomas and gliomas, can get cataracts, and skin lesions DO NOT get Lisch nodules, cafe au lai and axillary freckling in NF2

Question 36

Features of tuberous sclerosis (baby Nelson)

Answer 36

autosomal dominant most commonly identified cause of infantile spasms can have epilepsy, MR, autism, and hyperactivity can have rental lesions and brain lesions subependymal nodules/hamartomas - can get SEGA (aka subependymal giant cell astrocytoma)-lead to hydrocephalus Skin findings: ash leaf spots with Wood lamp, facial angiofibromas (adenoma sebaceous), Shagreen patches Cardiac: rhabdomyomas - largest during prenatal life and infancy, rarely symptomatic can occasionally cause arrythmias/cardiac outflow obstruction can get renal angiomyolipomas - most common cause of death in adults interstitial pulmonary disease

Question 37

True or false - Sturge Weber is inherited

Answer 37

FALSE - it is sporadic features 1. abnormal brain blood vessel of brain: aka angiomas of the leptomeninges overlying the cerebral cortex 2. ipsilateral port-wine stain - aka nevus flammus MRI head : to look for angioma and white matter abnormalities 3. abnormal eye blood vessels - lead to glaucoma Clinical: can present with seizures, hemiparesis, stroke like episodes, headaches, MR and learning disability seizures are most common neuro abnormality for the skin: pulse laser surgery endocrine: GH deficiency/hypothyroidism

Question 38

Types of spina bifida

Answer 38

neural tube closes by week 4 of gestation 1. myelomeningocele - uncovered spinal cord on the infants back-leads to paralysis, loss of sensation, incontinence (depends on location) can have associated chiari type 2 malformation - with hydrocephalus and weakness of face and swallowing 2. Meningocele - spinal canal and cystic meninges exposed on the back but have normal spinal cord 3. spina bifida occulta - skin is intack, defects of underlying bone or spinal canal are present; may be associated with lipoma, dermoid cyst or tethering of the cord to a thick film terminal; can have dimple or tuft of hair over the affected area complciations: 1. recurrent UTI/reflux nephropathy/renal insufficiency 2

Question 39

Diagnostic studies of spinal bifida

Answer 39

elevated alpha feto-protein confirm with U/S and high concentrations of alpha-fetoprotein and acethylcholinesterase in amniotic fluid screening U/S or MRI useful

Question 40

patient with mcrocephaly, parents both have big heads also

Answer 40

likely familial macrocephaly - will be developmentally nomal, most often cause of macrocephaly (see differential of big and small HC on pg 649 of baby Nelson) - good quiz questions

Question 41

``` (old question) which of the following is not associated with spinal cord anomalies in a newborn? a) anorectal anomalies b) arthrogryposis c) malrotation d) dislocated hip ```

Answer 41

myelomeningocele infant - flaccid paralysis of the lower extremities, absence of DTRs, lcm of response to touch and pain, high incidence of lower extremity deformities - i.e. clubfeet, ankle and/or knee contractors and subluxation of the hips some kids have constant urinary dribbling and relaxed anal sphincter, others do not leak urine and my have high pressure bladder and sphincter dysynergy higher deformity - more neurologic deficit - can sometimeshave kyphotic gibbous in UPPER region - less likely to have hydrocephalus hydrocephalus in association with a type II chiari malformation in 80% renal function is one of the most important determinants of mortality (from hydronephrosis, infections, reflux etc) can also get latex allergy, sacral a genesis and imperforate anus associated with spina bifida

Question 42

Abnormalities associated with anorectal malformations

Answer 42

kidneys urinary tract sacral anomalies cardiac anomalies esophageal atresia with or without tracheoesophageal fistula when all combined: vertebral, anal, tracheal, esophageal, radial, renal spinal abnormalities and different degrees of dysraphism often associated with absent sacral defects tethered cord in 25% of patients with anorectal malformations should establish diagnosis of spinal defects in 1st 3 months of life by spinal ultrasound - oleo patients need an MRI

Question 43

congenital myotonic dystrophy (secrets)

Answer 43

what is myotonia: painless tonic spasm of muscle that follow voluntary contraction, involuntary failure of relaxation or delayed muscle relaxation after a contraction can elicit with grip, forced eyelid closure, lid lag after upward gaze or percussion over various sites Presentation: 1. newborn period: hypotonia, facial diplegia with tenting of the upper lip, severe respiratory distress , feeding problems (poor suck and GI dysmotiblity) 2. Juvenile presentation: progressive weakness and atrophy of facial and sternocleidomastoid muscles and shoulder girdle, impaired hearing and speech and excessive daytime sleepiness may have MR; more likely to have clinical myotonia

Question 44

In a newborn with weakness and hypotonia , what delivery features suggest a diagnosis of congenital myotonic dystrophy

Answer 44

history of: spontaneous abortions, polyhydramnios (since can't swallow well) decreased fetal movements, delay in second stage labor, retained placenta (again cause mom can't expel it), postpartum hemorrhage ; usually the mother is affected (although only known diagnosis in approximately half)

Question 45

What is genetic anticipation in congenital myotonic dystrophy?

Answer 45

expansion of CTG repeat on long arm of chromosome 19, each generation yes worse feature sod it

Question 46

Metabolic causes of neonatal seizures (Peds in review article)

Answer 46

1. electrolyte disorders:hypoglycemia, hypocalcemia, hypomagenesemia, hyponatremia, hypernatremia 2. amino/organic acidopathies: 3. mitochondrial disorders : overall causes: #1 is asphyxia, other common ones include infection, bleed, congenital malformations (these are 80% combined) metabolic are the rest , also consider drug withdrawal

Question 47

most common are of the brain that is abnormal on MRI in patients with hypoglycaemia

Answer 47

occipital region

Question 48

timing of hypocalcemia in neonates

Answer 48

early - in SGA, premature, diabetic mothers - seizures in first 3 days after birth later - cow milk with lots of phosphorus or Digeorge (syndrome) or endocrine (i.e. hyperparathyroid, also hypomagnesemia with it

Question 49

neonatal seizures - when to suspect inborn error of metabolism

Answer 49

1. hypoglycemia 2. metabolic acidosis or alkalosis 3. lack of a birth history suggesting asphyxia 4. elevated ammonia 5. congenital anomalies