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50 Cards in this Set
- Front
- Back
ALS2 : the gene age of presentation? localization? clinical signs? |
Alsin first decade localized to the anterior horn with ascending degeneration of the cortico-spinal tracts slow progression of spastic paralysis of face and limb muscles pseudo-bulbar signs non ambulatory by age 50-60 y |
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List 5 causes of secondary craniosynesthosis |
1. endocrine: hyperthyroidism, rickets 2. teratogenic: exposure to AED, retinoic acid 3. syndromic /metabolic; MPS 4. Brain malformation- holoprosencephaly 5. hematologic disorders: thalassemia, sickle cell anemia, polycitemia vera |
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diagnosis? gene? clinical signs and symptoms |
Wolf Hirshorn syn. Del 4p16.3 *distinctive facies * growth delay * MR * seizures |
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How many copies of SMN2 are in SMA type 2? |
3 |
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Hyperintensity of the cerebellar cortex in T2 protocol is pathognomonic for INAD. Which other diseases may demonstrate this finding?? |
1. Marinesco sjorgen 2. CDG 1a - PPM2 mutation 3. mithochondrial dis. due to complex 1 NUBLP1 muation 4. CoQ10 def 5. Christianson syndrome 6. late infantile neuro ceroid lipofucinosis |
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describe? in which diseases it can be found? |
Rhizomelic chodrodysplasia punctata Zwellger dis. |
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MRI of a 6 yO boy presented with GTC sz. one during febrile illness and the 2nd w/o, known mild LD (FSIQ=78). describe? suggested diagnosis? |
diffuse leukodystrophy involving the U-fibers, typical vermis atrophy with hyperintense dentate nuclei- pathognomonic for L-2 hydroxyglutaric aciduria. Clinical characteristics are indolent- deterioration in learning and cognition along with sz., usually respond well to AED. |
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In which diseases the epileptic sz. can be explained by defect/ reduce levels of the GABA receptor? |
1. Juvenile myoclonic epilepsy 2. childhood absence 3. autism with epilepsy- reduced GABAA+GABAB 4. Angelman syn 5. Rett syn 6. succinic semialdehyde dehydrogenase deficiency 7. Pyridoxine dependent epi |
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In which epileptic syndromes activation of NMDA receptor is the basic pathology? |
Non Ketotic hyperglycinemia Autoimmune NMDAR encephalitis |
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Cerebellar atrophy and basal ganglia calcifications - which diseases? |
Kearns -Sayre Cockyane MELLAS Aicardi Goutries Other mitochondrial diseases |
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describe the roll of the hipocampus in epilepsy |
3 layers (groups) of cells in the hipocampus generate a feed-forward cycle of nerve conductions, with connections to the prefrontal and from there to the motor cortex |
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which channels/ receptors are excitatories? |
Na ion channels NMDA recptors AMPA recptors |
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Leigh disease: prevalence classic presentation mechanism of demise |
1:40,000 (1:3000 ln Faroe islands and french-canadians) cognitive regression, ataxia, hypotonia, irregular respiration, brainstem disfunction Die due to central respiratory compermize |
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10 yO boy, MR+ ataxia+severe cachexia describe the MRI diagnosis? |
Cerebral atrophy involving the gray and white matter, including the corpus callosum. Ventricles are large ex-vacuo, hyperintense signal in thalmi and putamen. Cockyane syndrome clinical signs: failure to thrive, neurodevelopmental delay, cutaneous photosensitivity, pigmentary retinopathy, neurosensory hearing loss, dental caries, and cachectic dwarfism |
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3 non-synaptic mechanisms that generated epileptic discharges: |
1. Areas rich with gap junctions 2. High concentrations of potassium in the extracellular space 3. Glutamate transporters that "clean" quickly the glutamate from the synaptic cleft |
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Hereditary motor neuropathies: localize the lesion clinical signs and symptoms |
Diseases of the alpha motor neuron in the anterior horn and CN. distal weakness Muscle atrophy Normal sensory function |
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diagnosis? clinical signs? prognosis? management? |
Apert syndrome Craniosynostosis of coronal sutures * Shallow eye sockets with visual problems * crowded jaws * cleft palate * syndactily * mild to moderate ID * hearing loss * oily skin * alopecia of the eyebrows Gene: Fibroblast Growth Factor Receptor 2(FGFR2) |
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PNS involvement in Leigh disease: |
Polyneuropathy Cranial nerves disfunction Chronic progressive external ophtalmoplegia |
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Chronic Progressive External Ophtalmoplegia |
Mutation in mitochondrial DNA Most common disorder in the mitochondrial diseases May be part of large variety of mitochondrial diseases starts 2nd decade of life |
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match the tx. to the disease 1. Non ketotic hyperglycinemia 2. Proprionic acidemia 3. Glut 1 defi 4. Leigh dis 5. Menkes dis 6. Gultaric aciduria type II late onset |
A. Thiamine and biotin B. Riboflavin C. Ketogenic diet and NTBG D. Copper E. sodium benzoate and NMDA antagonists F. L-Carnitine, sepcial diet and metronidazole PO |
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What is the DD for hyper Glycinemia? |
1. a-symptomatic hyperglycinemia- cause is un known 2. Ketotic hyperglycinemia: propionic acidemia, methlymalonic acidemia, isovalerica acidema and B-ketothiolase deficiency. 3. Brain injury that causes transient hyper glycinemia 4. Pyridoxal phospahte dependent encephalopathy |
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describe? what are the features? |
Equinovarus 1. Forefoot adduction and inversion 2. Heel inversion 3. limited dorsiflexion 4. internal rotation of the leg |
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DD for toe walking |
1. spastic paraplegia 2. tethered cord 3. habitual- autism 4. muscular dystrophy (Duchenne or Becker) |
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Having migraine increases/ decreases/ same risk for epilepsy, compare with other types of chronic headaches? |
Increases the risk by 3.2 |
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describe 2 paroxismal diseases in childhood that share their clinical signs (and maybe the pathophysiology) |
Benign occipital lobe epilepsy (Gastuat type) and migraine with aura in children |
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What does "migralepsy" means? |
When a seizure occurs during or immediately followinga migraine aura. Not includes in the ILAE list of conditions |
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what disease caused by contiguous gene defect? |
1. Miller-Dicker 2. Corronellia De lange 3. Norman-Roberts |
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In which of the following diseases chorea is not common? |
1. ataxia telangectasia 2. PKAN syndrome 3. Rett syndrome 4. Glutaric acidemia type II 5. Methyl malonic acidemia |
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In CP: match the pathophysiology (location) to the pre-perinatal period 1. 1st trimester 2. 2nd trimester 3. 3rd trimester 4. term 5. post term |
A. white matter injury (sensativity of oligodendrocytes) B. traumatic, infectious C. Cortical malformations D. Thalamus and Putamen ischemic changes E. neuronal migration |
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What is the mechanism of anapleudity? |
Non disjunction in the maternal miosis. During the first germ cell miosis 2 chromosomes do not seperate |
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For whom anti AchR and anti Musk is indicated? |
Pt. Age 1y old and up, W fatigable weakness affecting especially the ocular and cranial muscles, a decremental EMG and abnormal single fiber EMG |
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Match drug with mechanism of action: 1. Pyridostigmine 2. 3,4 Diaminopyridine 3. Fluoxetine 4. Albuterol 5. Ephedrine 6. Quinidine |
A. Long lived open channel blocker of AchR B. Inhibition of acetyl choline estherase C. Adrenergic agonists D. Increase the number of Ach quanta |
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Match the drug to the molecular diagnosis in congenital myasthenia gravis? 1. Fast channel mutation in AchR 2. Slow channel mutation in AchR 3. AchR deficiency 4. DOK-7 5. Ach E mutations 6. ChaT def. |
A. Pyridostigmine B. Albuterol and ephedrine C. 3,4 DAP |
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Classic presentation of ChaT def. |
Sudden episodes of apnea provoked by stress or w/o apparent cause. Hypotonia |
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In which cong. Myasthenia syndrome the ocular muscles are not commonly involved? |
Slow channel syndrome-kinetic defect in the AchR |
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Rippling muscle sign can be found in AR LGMD6= Rippling muscle dis. And in ??? |
Episodic ataxia type 1 |
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Which mutations in congenital myasthenia are in genes involving in development and maintance of the end plate? |
MuSK Rapsin Agrin LRP4 DOK 7 |
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what are the indications for karyotyping of the fetus? |
1. One parent carries balanced translocation 2. Maternal age >35 y 3. ab-normalities in fetal US 4. short femur 5. nucal folds thickness 6. echogenic bowel 7. high level of fetal protein 8. Trisomy in previous pregnancies |
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typical hand to which syndrome? what other clinical features? |
Patau=Trisomy 13 Holoprosencephaly in 80% Hypertelorism, microphtalmia cleft lip and palate cataract, retinal dysplasia cutis aplasia cardia and renal defects skeletal- hands, chair-leg feet |
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In which of the trisomies syndromes Robertsian translocation is not one of the mechanisms? In which of the chromosomal abnormalities maternal age is not a risk factor? |
1. Trisomy 18 2. Turner syn |
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Key clinical findings in 47 XYY males: |
no dysmorphism at birth Tall then peers as pubertal boys high incidence of breast cancer (X20 from normal male) Learning disabilities delayed or arrest in puberty ***same as Kleinfenter*** |
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In which genetic syndrome the kids licks their fingers, hug themselves and move their fingers as if flipping pages in a book? |
Smith Magenis - 17p11.2 delition |
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typical faces of which syndrome? gene? clinical features? |
Allagile GAJ1 or notch 3 *cholestasis * butterfly shaped vertebrae *post. embryotoxon * cong. cardiac defects *CNS malformations |
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MeCP2 duplication- what is the clinical features? |
Males profound MR spastic quadriplegia seizures |
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Isolated autism spectrum disorder- what is the commonest genetic findings? |
Copy number variations in 5-7% of kids |
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diagnosis? describe the image in what other disease adrenal insufficiency is a clinical finding? |
X-LAD T2 axial cut @splenium level, showing enhanced white matter around the post. horns of ventricles and around sylvian fissure * Adrenomyeloneuropathy * Peroxisome disorders |
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In which leukodystrophies post natal growth retardation is common? |
Cockayne Hypomyelination, hypogonadism, hypodontia |
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11 yO boy with hx. of cataract removal is presented with the following finding. Describe? diagnosis? clinical features? |
Achilles tendon xanthomas, typical in Cerebrotendinous Xanthomatosis 1. Cataract- the presenting sign, early childhood 2. Diarrhea- infancy 3. Tendon's xanthomas - juvenile 4. Dementia, psychiatric findings- puberty |
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Nystagmus is a typical early finding in which leukodystrophies? |
Pelizaeus Merzbacher and PZM like disorders Canavan SOX 10 related disorders |
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Macrocephaly and leukodystrophy: which diseases? |
Alexander Canavan Megalencephalic-Leukodystrophy with subcortical cysts |