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152 Cards in this Set
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- Back
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HIE Prognosis |
SARNAT STAGING Stage 1: 100% normal Stage2: 70% normal →→→25% neuro sequelae →→→5% mortality Stage 3: 0% normal, 20% neuro sequelae, 80% mortality |
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Neonatal HIE Perinatal asphyxia Criteria |
Metabolic Acidemia Apgar 0-3 > 5 mins Neurologic sequelae (seizures, coma hypotonia) Multiple organ involvement |
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MNOMONIC series SARNAT staging in HIE (thanks to Scott) |
A - Autonomic N - Neuromuscular S - Seizures L - Level of consciousness E - EEG R - Reflexes |
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AAP guidelines 4 criteria to be next to implicate perinatal asphyxia in HIE |
MANA M - Multiple organ failure A - Acidemia (ph< 7 in cord blood) N - Neurologic sequelae (sz, coma, hypotonia) A - Apgar < 3 @ 5 mins. |
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Sickle Cell disease 1° prevention: Stop 1 trial: TCD criteria velocity 200 cm/s in large arteries had 40% stroke risk in 3 yrs Exchange transfusion - target HbS z, 30% Hydroxyurea therapy (↑HbF) |
2° prevention: Chronic exchange transfusions Hydroxyurea ? aspirin |
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Risk of stroke low before 2 yrs due to protective effect of HbF Risk highest between 2-5 yrs 1% per year |
Sickle cell disease - use partial exchange transfusion prior to cerebral angiogram - use low osmolar contract agents for angio
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Sickle Cell Disease - Autosomal recessive - African-American ancestry - mutation in HBB gene → HbS - silent infarcts - Can have Moya Moya associated - Watershed infarcts - Strokes in ~ 45% and seizures in children |
- dehydration, anoxia causes crisis - cerebral angio can ppt vascular occlusion -Rx exchange transfusion Goal HbS < 30% Deferoxamine |
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Oculomotor Apraxia DDx |
1. Congenital oculomotor apraxia (type 1, type 3 - Cogan) 2. Ataxia telangiectasia (AT) 3. Joubert Syndrome 4. Pelizeus- Merzbacher 5 AOA1, AOA2 6. Cochayne's Syndrome |
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APGAR Scale A- Activity (muscle tone) P - Pulses G - Grimace (reflex irritatability) A- Appearance (skin color) R - Respirations |
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MNEMONIC Name the PMES " No more drugs but some good liquor" |
N - NCL M - MERRF D - DRPLA B - Baltic (Unverricht-Lundberg) S - Sialidosis G - Gaucher's L - Liquor (Lafora)
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EEG in BECTS |
* High amplitude, blunt CT spikes activated in drowsiness and sleep. * Shows horizontal dipole with frontal positivity on referential montage
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EEG in JME |
1. 4-6 Hz generalized atypical spike and polyspike wave discharges 2. Focal discharges can be seen in ~ 30% 3. Photosensitivity in 30-90% |
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Prognosis for CAE |
Early onset (mean age 6 yrs) have the best prognosis with complete remission of epilepsy 2 to 6 yrs after onset
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DDx for CAE |
Frontal or TLE Inattention Non-organic Other epilepsy stndrome |
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Differentiate Myoclonic-astatic Sz from Lennox-Gastaut syndrome |
* In MAE - myoclonic astatic Sz rather than atonic sz in LGS * Normal developement preceeding sz *lack of generalized paroxysmal fast activity in sleep (10Hz polyspike) *presence of parietal theta rhythm * photoparoxysmal response common |
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Most prominent Sz type in Doose Syndrome |
Myoclonic-astatic |
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Benign neonatal Sz 2 types / \ BNFC BINC (5th day sz) |
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GEFS + Gene involved |
SCN 1A SCN 1B *excellent prognosis *Sz remit spontaneously by age 11
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Photosensitive epilepsies |
Photosensitive Reading Startle |
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West Syndrome - TRIAD |
Hypsarrhythmia Infantile spasms Mental retardation |
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EEG changes in west syndrome more evident when? |
Slow wave sleep (stage 3, 4) may normalize immediately after a spasm or in REM sleep
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Infantile spasms 1. ictal EEG 2 interictal EEG |
1. interictal = hypsarrhythmia 2 ictal = high amplitude generalized sharp wave followed by electrodecrement |
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What happens to hyparrhythmia in REM sleep? |
Reduced or disappears |
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Hypsarrhythmia (look @ voltage on EEG - usually ~ 300 mV) |
A pattern of disorganized paroxysmal, high voltage slowing, multifocal epileptiform discharge, lack of synchrony seen on routine EEG -but may be seen during N-REM sleep |
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West Syndrome % that will develop LGS |
25% |
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Rx West Syndrome |
1. Trial of pyridoxine 100 mg od x 14 d 2. ACTH 3. Vigabatrin |
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SE of Vigabatrin |
*peripheral visual field constriction *Reversible Tz hyperintense lesions on MRI *hypotonia *insomnia * irritability |
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MOA - Vigabatrin |
Inhibits gaba transaminase which degrades GABA |
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West syndrome |
Treat early and treat the hypsarrhythmia for better long term developmental outcome |
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Characteristic EEG findings in Lennox - Gaustaut Syndrome |
1. 1.5-2.0 Hz slow spike/wave discharges 2. Generalized paroxysmal fast activity - bursts of > 10 Hz rhythm low voltage frontal, seen in slow wave sleep |
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Generalized paroxysmal fast activity |
low voltage, frontally predominant, bursts of > 10 Hz rhythm, seen in slow wave sleep - classic for Lennox Gaustaut |
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Lennox Gastaut Syndrome / →→→ \ 2/3rd symptomatic →→→ 1/3 cryptogenic |
Triad 1. Multiple Sz types 2. slow spike/wave 1.5-2 Hz 3. Mental retardation |
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Lennox Gastaut Syndrome Rx |
- Valproate, LTG, topiramate - CBZ in tonic Sz but may worsen atypical absences - ketogenic diet - corpus callosotomy for intractable drop attacks - VN stimulation |
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Electrical status epilepticus seen in which 2 epileptic syndromes? |
1. CSWS 2. Landau-Kleffner syndrome |
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CSWS - features |
*epileptic discharges are frontal = more global regression ↓ intellectual level, poor memory, hyperkinesis, impaired attn, motor impairment * can be 2° to prior brain insult |
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Laudau-Kleffner Syndrome |
Acquired auditory agnosia Sz well controlled with AEDs *Electrical status epilepticus in sleep
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EEG in CSWS |
Electrical status in n-REM sleep, diffuse, unilateral or focal spike/wave that occupy > 85% or more of slow wave sleep (stage 3, 4) |
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CSWS - Rx |
Avoid CBZ, PHT, Valproate, Keppra, Benzos, Steroids, high dose diazepam IVIG, Sulthiame |
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Differentiate between panayiotopaules and Gastaut's type occipital epilepsy |
Panayiotopoulos Age→ 1-14 early Sz duration→infrequent prolonged family Hx → absent time of day →nocturnal preictal→ autonomic sx ictal→ GTC postictal → no migraine Prognosis→90% remit GASTAUT Age→3-15 late Sz duration→ brief, frequent famil hx → present time of day→diurnal pre-ictal →visual sx ictal→GTC postictal→migraine Prognisis→50-60% remit |
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Epilepsia partialis continua DDx |
1. Focal cortical dysplasia 2. Rassmussen's Encephalitis 3. MERRF 4. HONK 5. Sturge-Weber |
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Benign familial neonatal sz (BFNS or BFNC) mutation? |
KCN Q2 KCN Q3 |
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Familial Hemiplegic Migraine Types, gene mutations |
FHM -1 CACNAIA FHM - 2 ATPIA2 FHM - 3 SCNIA |
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SCNIA disorders |
1. Dravet 2. GEFS + 3. FHM type 3 4. post vaccination encephalopathy |
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Ohtahara's syndrome (EIE) EEG pattern? onset = within 2-3 months |
Burst suppression May evolve into west syndrome then into LGS Poor prognosis |
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Early myoclonic encephalopathy (EME) |
Onset 1st month Fragmentary myoclonus + partial Sz, tonic spasms EEG=burst suppression metabolic, malformations etc |
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Dravet syndrome Gene mutation |
Frameshift mutation SCNIA |
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Dravet Syndrome → high mortality 16-18% → death due to status, drowning, SUDEP |
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In Dravet Syndrome, Sz are precipitated by what triggers? |
Fever Infection Vaccination Bathing |
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Dravet Syndrome - Rx |
Stiripentol (cytochrome p 450 inhibitor) + valproate +clobazam
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Dravet Syndrome - Drugs to avoid |
LTG CBZ |
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Dravet Syndrome - Outcome |
Developmental regression visuomotor, language impairment behavior problems, ataxia, corticospinal tract signs SUDEP etc |
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Dravet Syndrome EEG |
*Initial EEG N * Over time, background slowing, multifocal generalized polyspike and wave discharges activated by photic stimulation and drowsiness |
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EEG Burst-Suppression Pattern in Neonates - DDx |
1. Pyridoxine dependency 2. Glycine encephalopathy 3. EME/EIE (ohtahara) 4. Severe HIE |
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CP mimickers - Name 5 |
1. Dopa responsive dystonia 2. MLD, kernicterus 3. Krabbe's (spastic diplegia CP) 4. Glutaric acidurial (dyskinetic CP) 5. Leigh's disease 6. SSPE (ataxia CP) 7. AT 8. Lesch-Nyhan |
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Types of focal Cortical dysplasia - Classification ( Type II aka Taylor dysplasia) |
Type 1 - No dymorphic neurons or balloon cells Type 1A - Isolated architectural abn, laminar or columnar disorg. Type 1B - Arch. abn but giant cells or immature neurons seen Type 11- abnormal neurons seen 11A- dysmorphic no balloon cells 11B - dysmorphic and balloon cells |
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IEM dislocated lens |
Homocystinuria Marfan's syndrome NF- 2 Sulphite oxidase deficiency |
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IEM Dermatitus |
Hartnup's Biotinadase deficiency PKV |
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IEM photosensitivity |
Porphyria Hartnup Pellagra AT, Cockayne |
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IEM Myopathy |
Fatty acid oxidation Mitochrondrial Pompe's GSD |
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IEM Dystonia |
Glutaric aciduria 1 PKAN Lesch-Nyan DYT - 5 Wilson's disease |
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IEM Hepatomegaly |
GSD CPT 2 deficiency peroxisomal disorders Tyrosinemia type 1 Mucolipidosis CSD |
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IEM Hepatosplenomegaly |
Lysosomal storage disorders |
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IEM Cataracts |
NCL CTX Oligosaccharidoses Fabry's S-L-O syndrome |
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IEM Kinky hair - DDx |
Menk's disease Giant axonal neuropathy Multiple hydroxylase deficiency Argininosuccinic aciduria Citrullinemia Mucopolysaccharidoses |
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IEM Kinky hair |
Menke's disease |
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Hexosaminidase A - subunit - Tay Sach's B - Subunit - Sandhoff |
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IEM macrocephaly |
Canavan's Disease Alexander's disease Glutaric aciduria Mucopolysaccharidosis |
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IEM Microcephaly |
PKU Leukodystrophies Organic acidemias UCD MSUD |
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IEM Coarse facial features DDx |
Mucopolysaccharidosis Oligosaccharidosis Mucolipidoses (Hunter's, Harler's San Fillippo) |
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IEM Tall, long limbed body habitus Diagnosis? |
Homocystinuria |
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Peroxisomes - B-oxidation of fatty acids - biosynthesis of plasinalogens and etherphosphalipids - disease due to loss of single or multiple peroxisomal enzyme function - all are AR except ALD |
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Galactosemia - Neonatal onset - after onset of mild feeds - diarrhoea, jaundice - E. coli sepsis - bilateral cataracts |
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X-linked lysosomal IEM - Fabry's - Hunter's syndrome - Danon Disease All others are AR
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Lysosomes *Acidic compartment *terminal compartment in endocytic pathway *rich in acid hydrolases *enzymes use M-6-P targeting into prelysosome *Removal of waste products |
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Lysosomes - function |
Cellular organelles that contain acid hydrolases to break up waste materials and cellular debris - scavenging role mainly |
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Cherry- Red Spot DDx |
CRAO GM1 gangliosidosis GM2: tay sactis, Sandhoff Nieman - Pick type A Sialidosis ( cherry red myoclonus) MLD, Gaucher's disease |
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IEM Hepatomegaly with hypoglycemia + seizures=? |
GSD 1.3 Gluconeogenesis deficits Hyperinsulinism Galactomsemia Neimann-Picks
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Coma in a neonate with normal pH, glucose, ammonia, lactic acid and urine - Diagnosis? |
Maple syrup urine disease Non-Ketotic hyperglycinemia Zellweger's syndrome |
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IEM Respiratory alkalosis seen in which disorder? |
Urea cycle disorder |
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IEM Axial hypotonia with limb hypertonia with large amplitude termors/myoclonic jerks = metabolic disease |
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IEM Disordess of complex molecules DDx |
*Lysosomal disorders *Peroxismal disorders *congenital deficits of glycosylation *cholesterol synthesis deficitsq |
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IEM Disorders affecting energy production and utilization DDx |
Glycogenes,/gluconeogenesis deficts fatty acid oxidation hyperinsulinism congenital lactic acidemia |
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IEM Disorders causing intoxication DDx |
Aminoacidopathies Organic acidemias Urea cycle disorders |
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Common triggers in metabolic decompensation in IEMS |
Dieting Stress - infection -surgery -pregnancy -prolonged exercise |
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General principles in mgmt of IEM *support, stabilize the patient *restore homeostasis and correct the cause of decompensation *removal of accumulated toxin *provide adjunct therapies |
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IEM - Pearls *symptom free interval before decompensation *indistinguishable from toxic and nutritional deficiencies |
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Most common Neurologic manifestations of IEM |
Encephalopathy Seizures Hypotonia Psych disturbance |
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Major clinical presentation of acute metabolic disease |
Neurologic Movement disorder Hepatocellular Hypoglycemia Cardiomyopathy |
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Inborn Errors of Metabolism "Neurologic deterioration in the most common presentation of IEM" |
"non-neurologic features help in making the diagnosis" |
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IEM low cholesterol levels in 2 disorders |
Smith-Lemli - Opitz CTX |
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Smith-Lemli- Optiz Syndrome |
AR Disorder of cholesterol biosynthesis Gene= 7 dehydrocholesterol (DHC) ▲7 reductase Labs: ↓cholesterol ↑DHC (dehydrocholesterol) |
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IEM CSF: Plasma ratio Glucose < 0.35 (GLUT-1) Nonketotic hyperglycinemia > 0.6 |
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IEMS with psychiatric presentation |
MPS 2 MPS 3 Krabbe's Tyrosinemia Sanfillipo's |
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IEM's Stroke presentation |
Homocystinuria Fabry's MELAS Organic acidurias(propionic isovaleric, MMA) |
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IEM Vitamin responsive seizures Name 5 |
1. Pyridoxine deficiency 2. Pyridoxal phosphate dependent 3 Folinic acid responsive sz 4. B6 dependency due to alk. phosphatase deficiency 5. Biotinidase deficiency |
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IEMS with motor neuron presentation |
Tay Sach's Sandhoffs Polyglucosan body disease |
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IEMS Hyperammonemia DDx |
UCD -OTC deficiency -Citrullinemia -Argininosuccincic aciduria |
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IEM Wilson's ATP7B AR Menke's ATP7A x-linked |
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Self mutilation behaviour Seen in which 2 IEMs? |
Lesch - Nyham Hereditary tyrosinemia
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Metachromatic leukodystrophy Infantile form - spastic paraparesis, develop.delay Adult onset - dementia behavioural problems Both forms have demyelin. neuropathy |
3 etiologies for MLD 1. Arylsulfatase A deficiency 2 Saposin B deficiency 3. Multiple sulfatase deficiency |
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MLD - Path findings |
* Metachromatic staining * Myelin - lipip sulfatide accumulation in oligodendrocytes * and Schwann cells Can also see accumulations in retinal ganglion cells (cherry red spot) |
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Lactic acidemia with hypoglycemia -deficit in glycogen, glucocogeneis, FAO without hypoglycemia -eletron transport chain defect -Krebs cycle -Pyruvate dehydrogunosa |
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Common tests to order in evaluation of suspected IEM - lab test only |
Ammonia, lactate, pyruvate, ketone, carnitine, ABG, cerruloplasmin, cholesterol, FFA, VLCFA, phytanic acid, uric acid, CSF neurotransmitters, amino acids, organic acids, glucose |
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Lesch- Nyhan syndrome - purine metabolism - dystonia, choreoathetosis - self mutilation, aggressive - Hyperuricemia, gouty arthritis - renal stones Rx - Allopurinol, restrainst |
Hypoxanthine - Guanine Phosphoribosyl transferase deficiency x-linked disorder |
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Lab testing in Porphyrias |
* Urine delta ALA and porphobilinogen * Urine + fecal porphyrins |
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IEMS presenting with muscle weakness/exercise intolerance |
FAO defects Glycolytic pathway deficits GSD ( Acid maltase etc) Myoadenylate deaminase deficiency
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Adult polyglucosan body disease - has motor neuron disease presentation |
* glycogen branching enzyme deficit * dementia, urinary incont, gait problems, sensory loss |
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IEMS with basal ganglia involvement |
Glutaric aciduria 1 GMZ (Tay Sachs, Sandhoffs) Lesch-Nyhan MMA Niemann - Pick type C DYT- 5, Wilson's disease PkAN, Exclude CP |
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Krabbe's disease (aka Globoid cell LD) |
Galactocerebrosidase deficiency →accumulation of galactocerebraosides in macrophages transforming them into "globoid cells" |
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Hereditary Tyrosinemia |
- AR - hepatic/renal insufficiency - episodic painful neuropathy - self mutilation Rx liver transplant
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Glutaric Acidemia type 1 |
AR Glutaryl Co- A dehydrogenase Macrocephaly Dystonia/ Choreoathetosis Develop. delay/ Spastically Rx: ↓ dietary lysine, tryptophan carintine, riboflavin |
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SMA type + SMN2 Copy # SMA type 1 - 80 % 1-2 copies SMN2 SMA type 2 - 82 % 3 copies SMN2 SMA type 3 - 96 % 5 copies SMN2 Normal = 2-3 copies SMN1/0-5 SMN2
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Therefore phenotype becomes milder as SMN2 copies go up |
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Genetics of SMA - AR -Deletion of exon 7 in both copies of SMN1 gene - SMN gene ( survival motor neuron) 1 |
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SMN 2 gene - Chr 5 (upstream of SMN1) - Similar sequence to SMN1 * Only 10-20 % of the SMN protein made from SMN2 gene
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Glutaric Aciduria - 1 MR findings "Spontaneous subdural hematomas"
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Fronto-temporal atrophy widened sylvian fissure Dense BG/atrophy of caudate "bat wing" sign = open opercular sign |
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Glutaric aciduria - 1 Deficiency in glutaric Co-A dehydrogenase in the catabolic pathway of lysine + tryptophan causing accumulation of glutaric acid, 3 hydroxyglutaric acid and glutaconic acid in urine + glutaryl carnitine in blood + urine |
GA, 3 - OH GA. glutaconic acid are competitive inhibitors of GAD ( glutamic acid decarboxylase) which is required for GABA - inhibition of GAD is an mechanism for striatal neuronal cell death |
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PORPHYRIA - TRIAD * Pearl: GBS mimicker |
1. Peripheral Neuropathy (axonal, motor) 2. Abdominal pain 3. Psychiatric disturbances |
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Hemimegalencephaly |
Disorder of neuronal proliferation Syndromic associations - epidermal nevus syndrome - proteus syndrome - klippel - Trenavnay - Weber - NF1, Tuberous Sclerosis - Sturge - Weber |
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IEM involving neurotransmitter metabolism |
1. GTP - CH1 (Segawa- DYT5) 2. Tyrosine hydroxylase deficiency 3. Aromatic acid decarboxylase deficiency 4. Septiapterin reductase deficiency |
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Abnormal urine odors in IEM 1. MSVD - maple syrup 2. Isovaleric acidemia - sweaty feet 3. Glutaric aciduria 2 - sweaty feet 4. hypermethioninimia - boiled cabbage 5. multiple carboxylase deficiency - tomcat urine 6. Phenylketonuria - mousy or musty |
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IEM Lens dislocation DDx |
Homocystinuria Molybdenum Cofactor deficiency Sulfite oxidase deficiency |
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Congenital myotonic dystrophy Facial weakness Respiratory + swallowing problems Mother with facial weakness Myotonia CTG repeat expansion |
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Hypotonia - Pearls SMA - no facial weakness diaphragmatic breathing tongue fasciculations Barrel chested |
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Spinal muscular atrophy AR SMN gene - deletion of exons 7,8 |
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Genetic causes of MR Name 5
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1. Down's syndrome 2. Angelman 3. Prader-Willi 4. Williams syndrome 5. Fragile - x |
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Facial weakness in neonate |
1. Compression of facial N against bony sacrum/pressure from forceps etc 2. Congenital aplasia of the depressor angularis oris muscle.
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Prader- Willi: deletion chr 15 on maternal side Angelman: deletion chr 15 on paternal side |
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Spinal Muscular Atrophy Clue to diagnosis: -tongue fasciculations -face spared |
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Spinal Muscular atrophy Type 1 < 6 months Type 2 6-18 months Type 3 > 18 months Type 4 Adults |
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Primative reflexes Palmar grasp - suppress by 4-6 months Plantar grasp - suppress by 12-15 months Galant - suppress by 4 months Moro - Suppress by 6 months Tonic neck reflex - suppress by 3-6 months Placing/stepping - suppress by 12 months parachute- appears at 5 months |
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Early infant milestones 1 month - head up in prone 3-4 months - forearms in prone 3 months - bats at objects 5 months - transfers objects hand-mouth-hand 6 months - transfers objects hand-hand 6 months - rolls, front to back first |
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Periventricular IVH in newborn Risk factors - prematurity -LBW <1500 gms |
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IEMS with ataxia |
Bassen-Kornzweig Acerulloplasminemia Wilson's disease CTX, GMz Harnup's disease Pyruvate dehydrogenase ↓ Refsum's disease, Sialidosis |
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General principles in mgmt of IEM 1. ↓substrate 2. ↓ levels of toxic metabolites 3. Replenish depleted metabolites 4. Provide alternate source of energy 5. Replace enzyme 6. Replace enzyme producing cells thhrough BMT or liver transplantation |
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2 Leukodystrophies presenting with megatencephaly |
Alexander's disease Canavan's disease |
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LEUKODYSTROPHIES - PATHOLOGY MLD - lysosomal - metachromatic sulfatides within macrophages Krabbe - lysosomal - globoid multnucleated microglia ALD - peroxisomal - perivascular inflammaion Alexander - cytoskeletal - Rosenthal fibers CANAVAN disease - spongiform changes |
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CTX Triad |
Tendon xanthomas Diarrhoea Premature cataracts Dementia (mnemonic TDP dementia) |
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CTX MRI finding |
WM hyperintensities to cerebellar wm surrounding denate nuclei |
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Ancillary tests that may support a clinical diagnosis of a particular leukodystrophy |
VEP, BAEP, SSEP NCV ( NCS/EMG) Ophthalmology exam Skin biopsy Urinalysis for substrates |
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Alcardi - Goutieres Syndrome TRIAD |
Early onset progressive encephalopahy Basal ganglia calcifications Chronic CSF lymphocytosis - mutation to TREXI gene |
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TREX1 gene - name 2 conditions associated with TREX1 mutation? |
1. Alcardi - Goutieres syndrome 2. Retino vasculopathy with cerebral leukodystrophy (RVCL) 3. Cree encephalitis |
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Holoprosencephaly - associated genetic mutations |
SHH gene Patched ( PTC) gene Zic 2 Associated with trisomy -13 |
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Types of holoprosencephaly |
Alobar - single ventricle + continuity of cerebral cortex Semilobar - incomplete interhemis fissure, partially separaed thalami basal ganglia Lobar- well formed hemispheres/thalami absent septum pellucidum |
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Lobar heloprosencephaly - Name some of the structures that are fused across midline |
Cingulate gyrus Indusium griseum
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Septo-optic dysplasia (De-Morsier's syndrome) TRIAD |
Absence of septum pellucindum Hypoplasia of optic N Abnormal pituitary function |
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GM2 gangliosidosis TRIAD |
Progressive dementia Hyperreflexia Episodic psychosis (Motor neuron presentation is common) |
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KERNICTERUS TETRAD |
1. Athetoid CP 2. Enamel dysplasia 3. Sensorineural hearing loss 4. Impaired upgaze |
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GM2 gangliosidosis - enzyme deficiency |
~Subunit B hex A - Tay Sach's B subunit B hex A - GM2 ~ + B subunits - Sandhoff's disease GM2 activator - AB variant |
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Niemann - Pick type c Pathologic findings |
Foam cells and Sea- blue histiocytes in bone marrow aspirate (pathognomonic findings) |
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Niemann-Pick type C TRIAD |
Generalized dystonia Vertical gaze palsy Progressive dementia |
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Niemann - Pick type C Lab Diagnosis |
1. Abn. filipin staining in cultured skin fibroblasts 2. Abn. cholesterol esterification in cultured skin fibroblasts 3. Mutation analysis |
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Cherry-red spot myoclonus syndrome |
Sialidosis Type 1 |
