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36 Cards in this Set
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• Deficiency in alpha-galactosidase A enzyme causing accumulation of GL-3 in vascular endothelium and visceral tissues
• Mostly males are affected in this disease |
• Fabry Disease: Metabolic Neuropathy
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• Presents in childhood to adolescence
• Milder symptoms occur which may cause a later diagnosis o Early sx affect quality of life: chronic pain, angiokeratoma, hypohidrosis (which causes problems during exercise), heat/cold intolerance, GI sx • By 3rd to 5th decade, life-threatening renal, cardiac, and CV complications (heart attacks, strokes) • Some people can die of a heart attack and not even know that they had this condition |
Fabry
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o Hudson-Stahli line
• This is usually a horizontal line • Early stages of the VK can appear similar to HS line • Conjunctival vessesls – dilated & tortuous • Lens – granular spoke- like deposits on posterior lens • Retinal tortuosity |
Fabry
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• Angiokeratomas
• Small raised reddish-purple to blue-black spots on skin in ‘bathing trunk’ area (umbilicus/buttocks) • Usually appear around 10 years of age and it may just look like a rash • Progressive increase in size and number with age • This can cause a cosmetic problem • Acroparesthesia - painful, agonizing burning and tingling of hands & feet (stocking/glove distribution) • Pain can be severe and worsens w/ exercise, stress, fevers, or extreme heat • We can’t see these symptoms → the complaining child may not be heard • Duration hours to days depending on crisis • Onset as early as 10 • During pain crisis patients can have fever and ESR • Impaired sweating (hypohidrosis or anhidrosis) • Gastrointestinal problems (post-prandial cramping and diarrhea) • Renal system most affected • Increased Creatinine and Urea – Renal Failure and ESRD • Before dialysis, average age of death for males 41 • As of 2005, avg life expectancy 50 yrs • This is usually not diagnosed until extensive damage is done to renal and cardiovascular systems • Cardiovascular disease • Stroke, MI, LVH, CHF at early ages; risk w/ each decade • FABRAZYME® is an enzyme designed to reduce GL-3 deposition in the kidney • Heterozygous females – variable degree of S/Sx • Vortex Keratopathy, small degree of angiokeratomas |
Fabry
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characterized by abnormal accumulation of amino acid cysteine in kidneys, eyes, brain, muscles, and pancreas
• Rare, AR, 1/192,000 births • 3 Clinical Presentations: Differ in age of onset and in rapidity of clinical course • Infantile (6-18mos) aka Nephropathic Cystinosis, death can occur by age 10 o This is a very severe condition o These kids are born normal but then have a ‘failure to thrive’ during development • Juvenile, milder w/ symptoms evident by 2nd decade • Adult (benign), ocular not kidney • This affects the brain more than Fabry’s disease (which affects heart and kidney |
• Cystinosis Metabolic Neuropathy
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o Hallmark Sx – Excess thirst and urination
• This usually calls for a diabetic workup • Photophobia in first years of life due to the crystalline depositis in the epithelium • Muscle wasting seen as distal myopathy in >20 yo in the extremities → weak individuals • Kidney (early w/ infantile) – cysteine crystals deposited in proximal tubule • Leads to Fanconi syndrome – proximal tubular function of kidney is impaired, resulting in ↓ reabsorption of electrolytes and nutrients back into bloodstream • The body can’t thrive from the loss of minerals through urine • Chronic renal failure, can cause ESRD by age 9 • They need dialysis or transplants or there will be eventual death • Severe growth retardation 2o to lack of nutritional absorption |
• Cystinosis Metabolic Neuropathy
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TX • Cystinosis Metabolic Neuropathy
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• Cysteamine – cystine-depleting agent lowering cystine levels w/in cells
• Delays/prevents renal failure • Improves growth of children • Cystagon – oral cysteamine • This is a cystine depleting agent: prevents or delays renal failure and improves growth • Cysteamine ophthalmic solution (Sigma-Tau Pharmaceuticals) • Disolves corneal cystine crystals • Reduces photophobia |
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• AR causing error in copper metabolism
• Cooper accumulations in liver & brain • Hepatic & neurological dysfunction • Avg onset 11yrs w/ hepatic & 19 yrs w/ neuro sx • 2 most reliable diagnostic parameters • urinary copper excretion and K-F rings |
Wilson's
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• Liver Sx
• This is seen in the younger to teenaged patients • Jaundice due to cirrhosis • Fatigue, increased bleeding tendency • Cirrhosis/chronic liver disease • Ddx: hepatitis and alcoholism • Neurological or psychiatric Sx • Parkinsonism – Involuntary tremors of hands and feet, at rest or w/ action • Cogwheeling with slow movements/function • Ataxia, gait dysfunction • Bradykinesia • Behavioral changes, depression, anxiety • Cardiomyopathy (rare) • The heart does not have the flexibility to beat as it enlarges |
Wilson's
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• Kayser-Fleischer ring
• Copper accumulation at Descemet’s membrane • Disappear completely or partially after Tx • 100% in neurological disease • >75% in hepatic-only disease • The placement is similar to placement of arcus • Ddx: keratoconus: that ring would be thinner and closer to the base of the cone • “Sunflower” anterior subcapsular cataracts (15-20%) • This doesn’t affect vision very much • Scleral Icterus • Yellowing due to jaundice from liver dysfunction/failure • Inspect palms for signs of jaundice o Jaundice can point to cirrhosis and hepatitis o Phenylephrine will help the yellowing stand out • Don’t confuse with conj melanosis in people of color |
Wilson's
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TX Wilson's
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• Scleral icterus w/o KF ring, refer to PCP to R/O hepatitis, cirrhosis, pancreatic disease
• KF ring and/or sunflower cataract, refer to neurologist and/or PCP to R/O Wilson’s disease • Review Hx for neuro symptoms • Tx – D-penicillamine (copper-chelating agent) • Monitor with SLEx & blood chemistries • Lifetime Tx with nearly complete recovery if early tx • This binds copper and helps it get excreted through the urine output • Zinc acetate (Galzin) – maintain stable copper levels |
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• Septum pellucidium has a malformation or an absence of it
• Rare congenital defect during embryological development • Optic nerve hypoplasia • Strabismus • Nystagmus • Absence of septum pellucidum • Complete (64%) • Partial (36%) • Hypopituitarism • Pituitary hormone deficiencies • There is a defect between the hypothalamus and the pituitary area • Developmental & growth delays 2o to endocrine dysfunction • 60% have dysfunction of hypothalamic-pituitary axis • Pubertal abnormalities & reproductive dysfunction common |
• Septo-Optic Dysplasia (SOD) aka DeMorsier’s Syndrome
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• Developmental anomaly – present in 50% of Fetal Alcohol Syndromes & other gestational drug toxicity
• # of nerve fibers – decreased NFL and GC • ONH is ½ the size of normal • Small disc, somewhat pale and dirty (“ash gray”) • Double pigment ring sign – yellow halo • Retinal vessels of normal caliber that exit and enter the disc centrally like a stalk • Associated with multiple systemic and neurological abnormalities— especially if bilateral • Bilateral indicates a significant chance of SOD • With hypoplasia, it’s hard to tell where the disc is since the vessels are crowded and branch before leaving the center zone • Associated with decreased VA, VF defects, pupil anomalies, strabismus, and nystagmus • This patient was 20/400-OS • 10 yo WM w/ hx of amblyopia, strabismus w/ EOM surgery, hearing aid in left ear • VA 20/20 OD, 20/200 OS • MRI + Septo-optic Dysplasia, optic atrophy OS |
• Septo-Optic Dysplasia (SOD) aka DeMorsier’s Syndrome
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TX • Septo-Optic Dysplasia (SOD) aka DeMorsier’s Syndrome
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• No specific treatment for ON hypoplasia
• Systemic work up, especially w/ bilateral cases • Endocrine work-up o Deficient GH is found in up to 93% of patients • Neurological work-up including MRI/CT scans o They usually have limited eye hand coordination • Careful documentation with photos and periodic VF for first 2 years is important to document stability • Patient/parent education & polycarbonate lenses |
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• A group of inherited muscle diseases in which muscle fibers are unusually susceptible to damage. Muscles become progressively weaker with gradual wasting of muscle and accompanying weakness and deformity. In late stages fat and connective tissue replace muscle fibers.
• AD, defect on Chromosome 19, 3, and possibly 16, 21 • Incidence 1:5000 to 1:8000 • Sx more severe with each successive generation • Mitochondrial muscle disorder – “ragged-red fibers”: pathognomonic for mitochondrial problems • Mild accumulations of glycogen and lipids in the muscle fibers • 50% show visible signs by 20, but most do not develop sx until >40 |
• Muscular Dystrophy
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• 1st muscles affected are face, neck, hands, forearms
• Inability to release the hand from a grip • Muscles contract but have decreasing power to relax • Myotonia – inability to relax muscles at will • Generalized muscle weakness and wasting with age • Long thin narrow face, frontal balding (>seen in men) |
• Muscular Dystrophy
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• Slowly progressive bilateral ptosis (85%)
• Chronic Progressive External Ophthalmoplegia (CPEO) • External eye movements are hard and a head tilt is developed to see under the ptosis • Bilateral ptosis is from the orbicularis and levator being affected • Slowly progressive symmetrical paralysis of EOM • Horizontal & vertical gaze palsies • 7th nerve atrophy → no expressions • Also can be expressionless from skeletal muscle tightening • Develops mos to yrs after ptosis • Weak to absent Bell’s phenomenon • Sluggish pupillary responses • Christmas Tree Cataract → increased glare • This can also be idiopathic • Iridescent, polychromatic opacities in the cortex |
• Muscular Dystrophy
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• Bilateral ptosis with CPEO before age 20
• CPEO and retinopathy = cardiac evaluation • CPEO there is no variation of the ptosis. With MG there will be good and bad days → ptosis can vary • Pigmentary ‘salt and pepper’ retinopathy • Retinitis pigmentosa appearance with no vessel attenuation • Other findings • Heart block, 1st degree AV block – ophthalmoplegia generally precedes cardiac dysfunction |
o Myotonic Dystrophy Kearns-Sayre Syndrome
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• AD, chromosome 14, faulty gene (PABPN1) for myosin heavy chains, producing ↑ CPK
• Muscle biopsy – abnormal vacuoles in muscle fibers • 4th decade onset • Rare in US but common in: • French-Canadians (1:1,000) • Bukhara Jews in Israel (1:600) • Mexico • Clinical findings • CPEO, incomplete, bilateral ptosis • Dysphagia & tongue weakness • Later weakness of facial and limb muscles |
o Oculopharyngeal Muscular Dystrophy OPMD
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• Acquired autoimmune disorder characterized by weakness of skeletal muscles & fatigability on exertion
• Weakness of voluntary muscles • Manifest weakness during continued activity • Improved power after rest • After closing their eyes for 20 minutes → they will have a wider palpebral fissure • Antibodies are directed toward acetylcholine receptors binding at neuromuscular junctions • AchR antibodies present in 70-90% • Incidence 1:20,000 to 1:40,000 • Female: Male ratio 3:1 • Mean age of onset 28 for females & 42 for males |
MG
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Associated disorders with MG?
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• Thymoma 10% – chest MRI
• Tumor of the thymus gland → refer for chest X-ray • Thyroid disease 5% • Other autoimmune diseases • Rheumatoid arthritis • Lupus |
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o Transverse myelitis
o Devic’s Disease, aka Neuromyelitis optica |
MS
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o 2° to viral infections, 6 to 10 days post-viral sx
• This is one event…it doesn’t recur o Immunizations, 10d to 3wk after injection o It is characterized by acute onset of demyelination • Headaches, fever (may develop ON), confusion, seizures • Motor, sensory, cerebellar, CN dysfunction |
• Acute Disseminated Encephalomyelitis (ADEM)
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• Rare disorder that is part of a spectrum of neuro-immunologic (autoimmune) diseases of the CNS resulting in demyelination .• Weakness of legs and/or arms
• Sensory alteration • numbness, tingling, coldness or burning • Up to 80% of patients experience heightened sensitivity to touch induced pain (allodynia) • Pain: up to 50% report sudden onset as primary sx • Usually the pain is in the extremities particularly • Bowel and bladder dysfunction • Some may report bowel, bladder, and sexual dysfunction as first symptom |
• Transverse Myelitis (TM)
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• There are no cerebral or cognitive problems
• Characterized by TM + optic neuritis • ON typically bilateral and often severe → these people don’t recover • May occur 2o to SLE, Sarcoid, w/ typical MS • Often diagnosed as MS in 1% of MS clinic patients • After multiple bouts of NMO, pts are left w/ severe functional loss (more than MS) • Females > males, avg age 30, 40 w/ relapsing • proportion seen in Japanese, Hispanic, and African Americans • MS: Caucasian and northern European • Loss of vision and paraplegia may be widely separated in time • At the same time or w/in few days, weeks or occasionally months, ON is followed by severe transverse myelitis (TM) • However, in about 20% of cases, TM can precede ON |
• Neuromyelitis Optica (NMO) aka Devic’s Disease
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• Painful, asymmetric multiple neuropathy
• Most common type of distal neuropathy • Persistent numbness/tingling in legs/feet • Loss of sensation can lead to skin ulceration • When present, suspect some form of DR • When present and NO form of DR, suspect CAD • 15% of diabetics have S/Sx of neuropathy • Most common >50 yrs |
• Diabetic Polyneuropathy
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• Thiamine (B1) deficiencies resulting in demyelination and axonal destruction in longest and largest nerves
• Develops slowly over months • Sensory signs in the distal extremities • Symmetric weakness, numbness, tingling in legs and feet • Aching, cramping, burning |
• Nutritional / Alcoholic Polyneuropathy
o Tx high dose IM injections of thiamine & magnesium o DDx • Methanol toxicity • Ethambutol tx for TB • Cyanides from smoking |
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• Body's immune system attacks part of peripheral nervous system
• Acute inflammatory demyelinating polyneuropathy resulting in acute ascending motor paralysis • Eye symptoms are not as significant in this syndrome • If this gets to the cheast → life threatening • Rare idiopathic disorder • Not hereditary or contagious • This can occur after a viral infections or an immunization • Incidence 1 to 2/100,000 • No specific predilection for age, race, or gender • However, more documented cases in young adult females |
• Guillain-Barré Syndrome (Acute Idiopathic Polyneuritis)
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• Cranial nerve palsies in 50%
• VI and VII most common • III-VII, IX-XII may be present • Tonic pupils • Ptosis • Facial myokymia • Papilledema as a rare complication • Seen after the limb weakness |
Guillain-Barré Syndrome (Acute Idiopathic Polyneuritis)
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• Unique subtype begins w/ cranial nerve deficits
• Ataxia • Ophthalmoplegia, facial diplegia • Areflexia, loss of deep tendon reflexes • Motor strength characteristically is spared • CSF protein may be w/ normal cell count • Recovery is generally complete over wks to mos |
• Miller-Fisher Syndrome Variant of GBS
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• Acquired “twitch” of the entire CN VII distribution
• Painless with no sensory loss • Etiology • Brainstem Lesion • Aberrant vascular loop compressing VII or following Bell’s palsy (postparalytic hemifacial spasm) |
• Facial Myokymia / Hemifacial spasm
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• Most common movement disorder
• 50 - 60% Familial Hx, • Onset any age, most by 3rd to 4th decade • Tremors during voluntary activity and at extent • Tremor frequency faster than Parkinson’s • Posture, gait, balance, coordination all normal • Can affect voice control, voice quaver o |
Essential Tumor
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• Chronic idiopathic progressive neurological disease
• Affects neurons of substania nigra, corpus striatum & basal ganglia which coordinate smooth & balanced muscle movement |
Parkinsons
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• Neuronal cell death in substantia nigra leading to lack of dopamine in brain, especially in basal ganglia
• Lewy Body - abnormal aggregates of protein (eosinophilic inclusion bodies) that develop inside nerve cells • A pink-staining sphere, found in bodies of dying cells: considered to be marker for Parkinson's disease |
Idiopathic Parkinson's
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• Blephrospasm
• Chronic blepharitis • Dry eyes • Glabellar tap reflex (Myerson sign) • Reduce saccades & pursuits • “Staring Look” • Mask-like face • Infrequent blinking • Restricted vertical gaze w/ chin tuck |
Parkinson's
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o General
• Neurodegenerative disease • 1/100,000, mean onset 50-60yrs, M>F • Hallmark signs • Gait instability, wide based and unstable • Vertical gaze palsy due to supranuclear ophthalmoplegia, progressive restriction of voluntary EOMs o Primary Symptoms • 63% Postural instability and falls • 35% Dysarthria (motor speech disorder) • 13% Bradykinesia (13%) o Alterations of mood and behavior, including depression, apathy, and mild dementia |
• Progressive Supranuclear Palsy (PSP)
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