- 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

Neurology Flashcards by Khristine Bautista

An elevated CK strongly suggests…

Duchenne muscular dystrophy

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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

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Most common cause of discitis

S. aureus

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Childhood onset weakness
Skinny legs
Pes cavus
Peroneal wasting
Onion-bulbing on histology-may feel thickened nerves on exam

Charcot-Marie Tooth

- AD

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Infancy onset weakness
Delayed milestones
Demyelinating disease

Dejerine-Sottas

- AD/AR

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Weakness
Retinitis pigmentosa
Hearing loss
Icthyosis
phytanic acid storage problem

Refsum disease - peroxisomal

- AR

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“Areflexia”

Peripheral nerve disease

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Findings in Bell Palsy

Upper and lower portions involved

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Multiple cranial neuropathies
Tick bite
Migrating rash

Lyme Disease

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Dysphagia
Dysphonia
Failure of ocular accommodation
Loss of reflexes

Diphtheria

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Major cause of peripheral neuropathy in the third world

Leprosy

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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

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C5, 6

Arm adducted, internally rotated, rorearm pronated

Erb’s Palsy

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C7, 8, T1

Hand paralysis

Klumpke’s Palsy

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Wrist drop

Radial n injury

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Claw hand

Ulnar n injury

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Foot drop

Peroneal n injury

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Knee flexion paralysis
Tibial/Peroneal paralysis
Oftentimes associated with IM injection

Sciatic n injury

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Asymmetric neuropathy with WRIST DROP
ANEMIA
GI discomfort
<4yrs
Encephalopathy
Hx of pica

Lead Neuropathy

Pb>60mcg/mL

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Distal paresthesias
Tremor
Ataxia
Visual field constriction
Weight loss
Personality change
Fatigue
Tremor

Mercury Neuropathy

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“Fatigability, diurnal fluctuation of sx”

NMJ disorders

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Infant with feeble cry, faltering suck

What does mother have

Myasthenia gravis

Resolves in 3-5 weeks

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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

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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

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- 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

Neurology Flashcards

(80 cards)