Neurology Flashcards
An elevated CK strongly suggests…
Duchenne muscular dystrophy
- Earliest presentation of this disease
- Infant in frog leg posture
- Severe hypotonia on traction, ventral suspension
- Spares extraocular muscles
- Tongue fasciculations, atrophy with progression
- AR, SMN1 (survival motor neuron 1) gene
Denervation of anterior horn cells
SMA Type 1 (Werdnig-Hoffmann)
SMA Type 2 - later onset, slower progression
SMA Type 3 - Kugelberg-Welander
Share similarities with Lou Gehrig’s disease
Most common cause of discitis
S. aureus
- Childhood onset weakness
- Skinny legs
- Pes cavus
- Peroneal wasting
- Onion-bulbing on histology-may feel thickened nerves on exam
Charcot-Marie Tooth
- AD
- Infancy onset weakness
- Delayed milestones
- Demyelinating disease
Dejerine-Sottas
- AD/AR
- Weakness
- Retinitis pigmentosa
- Hearing loss
- Icthyosis
- phytanic acid storage problem
Refsum disease - peroxisomal
- AR
“Areflexia”
Peripheral nerve disease
Findings in Bell Palsy
Upper and lower portions involved
- Multiple cranial neuropathies
- Tick bite
- Migrating rash
Lyme Disease
- Dysphagia
- Dysphonia
- Failure of ocular accommodation
- Loss of reflexes
Diphtheria
- Major cause of peripheral neuropathy in the third world
Leprosy
- Symmetric, ascending polyneuropathy
- Calf pain earliest complaint in kids
- Albuminocytologic dissociation
- Areflexic patient
Guillain-Barre Syndrome
Can have arrhythmias, diaphragmatic issues, need monitored bed
Rx: Plasmapheresis or IVIG
C5, 6
Arm adducted, internally rotated, rorearm pronated
Erb’s Palsy
C7, 8, T1
Hand paralysis
Klumpke’s Palsy
Wrist drop
Radial n injury
Claw hand
Ulnar n injury
Foot drop
Peroneal n injury
Knee flexion paralysis
Tibial/Peroneal paralysis
Oftentimes associated with IM injection
Sciatic n injury
Asymmetric neuropathy with WRIST DROP ANEMIA GI discomfort <4yrs Encephalopathy Hx of pica
Lead Neuropathy
Pb>60mcg/mL
Distal paresthesias Tremor Ataxia Visual field constriction Weight loss Personality change Fatigue Tremor
Mercury Neuropathy
“Fatigability, diurnal fluctuation of sx”
NMJ disorders
Infant with feeble cry, faltering suck
What does mother have
Myasthenia gravis
Resolves in 3-5 weeks
- Gradual onset of hypotonia, ptosis, poor suck and swallow, sluggish pupils, external ophthalmoplegia, feeble cry
- CONSTIPATION
Infant botulism - Clostridium botulinum ingested by the infant
Dx: Toxin from stool specimen, EMG
Rx: supportive, Blg available now
- Normal as newborn, later Gowers sign
- Pseudohypertrophic calf
- Lumbar lordosis
- Toe walking, waddling gait
- Associated with dilated cardiomyopathy
- Very high CK
Becker and Duchenne Muscular Dystrophies
- XL (Xp21)
- Gene product = dystrophin
Duchenne: severe morbidity by second decade
Becker: later onset, milder course
- Focal dystrophies
- Mild CK increase
- Onset in 2nd decade, slowly progressive
- Biopsy shows dystrophic changes
- Difficulty using straws, blowing up balloons
- Normal life span
Fascioscapulohumeral Dystrophy - AD
Limb-Girdle Dystrophy - AR
- Some forms associated with cardiomyopathy
Floppy infant with hollow temporal fossae Tented mouth Cataracts ID EMG shows myotonia CK not remarkably elevated
Congenital Myotonic Dystrophy
- AD
- Chr 19p CTG repeat expansion
- Genetic anticipation
- Arthrogryposis
- CNS involvement
- Seizures
- MR
- Biopsy shows dystrophic changes
- Dilated cardiomyopathy known association
Congenital Muscular Dystrophy
- Merosin (laminin-alpha2) deficiency)
- Floppy infants
- Slowly progressive conditions
- Biopsy shows structural changes, not dystrophic changes
- Nemaline myopathy
- Central Core myopathy
- Myotubular myopathy
- Congenital Fiber Type Disproportion
Ascending weakness, areflexic
GBS
Foot drop, hypertrophic nerves
CMT
Sever muscle & brain involvement
Congenital Muscular Dystrophy
- Proximal weakness, legs > arms
- Muscle aches, pain in about a third
- Facial, EOM usually spared
- Neck flexors, shoulder and pelvic girdle muscles commonly affected
- Classic rash, skin ulcers, calcinosis
Polymyositis/Dermatomyositis
Rx: Prednisone, IVIV, cyclosporin
Early onset
Hypertrophic cardiomyopathy
Glycogen storage
Pompe
2nd decade onset
Exercise intolerance
Cramps
Myoglobinuria
McArdle
Ragged red fibers in muscle biopsy Lipid myopathies (CPT deficiency & variants)
Mitochondrial disease
Early childhood onset Precipitated by rest after exertion Attacks last 15min to an hour Dominantly inherited May respond to acetazolamide
Hyperkalemic Periodic Paralyses (Na Channel mutation)
Later childhood onset Provoked by carbohydrate load Attacks last >24 hours Dominantly inherited May respond to acetazolamide
Hypokalemic Periodic Paralysis (L-type Ca++ channel mutation)
Head titubation
Truncal ataxia/broad-based gait
Vermian lesions
Dysmetria Hypotonia of limbs ipsilateral to teh lesion Gait causes pt to veer ipsilaterally Asynergia Disdiadochokinesia Intention tremor
Reactions to hemispheric lesions
Intermittent ataxia Defective tryptophan absorption Aminoaciduria Pelagra like skin rash Skin rash responsive to niacin
Hartnup’s Disease
Intermittent ataxia
Lactic acidosis
Central hypoventilation
MELAS
- Congenital absence or hypoplasia of vermis
- Hypotonia
- Ataxia
- Hyperpnea and sleep apnea
- +/- cleft lip/palate
- Seizures
- Mild to moderate MR
- Molar tooth sign
Joubert Syndrome
Best brain tumor to have
Cerebellar Astrocytoma - only resection required
- well-capsulated
- Initial signs CN findings
- No HA, vomiting early
Pontine Glioma
- No surgery
- No chemo
- Only radiation
- Poor prognosis
Brain tumor associated with abducens palsy
Pontine Glioma
Surgery is curative of this brain tumor
Cerebellar astrocytoma
- Onset 1-3 years
- Telangiectasias in conjunctiva, skin
- Dysarthria, oculomotor apraxia, ataxia
- Lymphoid hypoplasia (no tonsils)
- Elevated serum alpha-fetoprotein
- IgA deficiency - sinopulmonary infections
Ataxia - Telangiectasia
- Defective DNA repair (ATM gene)
- AR (11q23)
- Multisystem disorder, 1st decade onset
- Affects peripheral nerve, spinal cord
- Optic atrophy
- Cataracts
- Degeneration cochlear nucleus
- Cardiomyopathy
- Diabetes in ~40%
- Scoliosis, pes cavus
Friedrich Ataxia
- AR - triplet repeat expansion
- Acanthocytosis
- Hypocholesterolemia
- Degeneration of posterior columns and the spinocerebellar tracts
- Peripheral neuritis
- Retinitis pigmentosa
- Mental retardation
- Deficient fat absorption due to absence of betalipoproteins
Abetalipoproteinemia (Bassen-Kornzweig Syndrome)
- Early Rx with vitamin E may reverse course
Recurrence of anencephaly?
3-5%
Common, <1 in 1000 in US
What screening is available to anencephaly?
Serum/amniotic fluid AFP
Meningocele
Just meninges
Meningoencephalocele
Meninges and brain tissue
Maldevelopment of cranial nerve nuclei Facial n affected most commonly Ptosis Ophthalmoplegia Difficulty with chewing/swallowing Club foot, congenital absence of pectoralis
Moebius Syndrome
Most common form of craniosynostosis
Saggital
Neonatal high output cardiac failure
Cephalic bruit
Vein of Galen - AVM
Associations with berry aneurysms
Coarctation of the Aorta
Polycystic Renal Disease
Inheritance of Tuberous Sclerosis
AD - lots of spontaneous mutations
TSC 1 hamartin
TSC 2 tuberin
Cortical tubers (hamartomas)
Subependymal glial nodules
Giant cell astrocytomas
Tuberous Sclerosis
Hypopigmented macules
Ash leaf spots
Shagreen patches
Adenoma sebaceum
Dermatologic lesions in TS
Adenoma sebaceus = angiofibroma
Sporadic occurrence Vascular port-wine nevus (V1 or V2) Contralateral hemiparesis and seizures Glaucoma ID Railroad track calcifications
Sturge-Weber Syndrome (15-20% of port wine stain)
Cerebellar hemangioblastoma Spinal cord angioma Cysts in pancreas, kidney, liver Renal clear cell carcinoma (60%) Pheochromocytoma (10-20%)
Von Hippel-Lindau Disease
Inheritance of Neurofibromatosis
AD - 50% new mutations
Cafe-au-lait spots Axillary freckling Lisch nodules SQ neurofibromas Intraspinal tumors Tumors of peripheral nerves OPTIC GLIOMAS
Neurofibromas
Most common malignancy in NF
Optic gliomas
Bilateral acoustic neuromas
NF type II
This type of neurofibromatosis has rare skin findings
NF type II
“Simple” seizure
Pt aware during seizure
“Complex” seizure
Pt unaware of environment
Complex febrile seizure
last >15min, focal, or multiple seizures during a single febrile illness
Recurrence rate of febrile seizures
30%
Hypsarrhythmia on EEG
Infantile Spasm
Treatments for Infantile Spasms
ACTH, Vigabatrin
- Multiple seizure types
- Usually intractable to treatment
- Progressive mental retardation common
- Cryptogenic vs. symptomatic
- Some evolve from infantile spasms
Lennox-Gastaut Syndrome
3 Hz spike and waves
Absence seizures
Treatments for Absence Seizures
Ethosuximide, VPA, LTG, ZNA
Felbamate
Aplastic Anemia
Topiramate
Dopamax - clouds cognitive function
- Renal stones and acidosis
Lamotrigine
SJS, TEN
Oxcarbazepine
Hyponatremia
