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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

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

diagnosis?
gene?
clinical signs and symptoms

diagnosis?


gene?


clinical signs and symptoms

Wolf Hirshorn syn.


Del 4p16.3


*distinctive facies


* growth delay


* MR


* seizures

How many copies of SMN2 are in SMA type 2?

3

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

describe?
in which diseases it can be found? 

describe?


in which diseases it can be found?

Rhizomelic chodrodysplasia punctata


Zwellger dis.

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?

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.

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

In which epileptic syndromes activation of NMDA receptor is the basic pathology?

Non Ketotic hyperglycinemia


Autoimmune NMDAR encephalitis

Cerebellar atrophy and basal ganglia calcifications - which diseases?

Kearns -Sayre


Cockyane


MELLAS


Aicardi Goutries


Other mitochondrial diseases

describe the roll of the hipocampus in epilepsy

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

which channels/ receptors are excitatories? 

which channels/ receptors are excitatories?

Na ion channels


NMDA recptors


AMPA recptors



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

10 yO boy, MR+ ataxia+severe cachexia
describe the MRI
diagnosis? 

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

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

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

diagnosis?
clinical signs? 
prognosis? 
management?

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)



PNS involvement in Leigh disease:

Polyneuropathy


Cranial nerves disfunction


Chronic progressive external ophtalmoplegia

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

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



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

describe?
what are the features?

describe?


what are the features?

Equinovarus


1. Forefoot adduction and inversion


2. Heel inversion


3. limited dorsiflexion


4. internal rotation of the leg

DD for toe walking

1. spastic paraplegia


2. tethered cord


3. habitual- autism


4. muscular dystrophy (Duchenne or Becker)

Having migraine increases/ decreases/ same risk for epilepsy, compare with other types of chronic headaches?

Increases the risk by 3.2

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

What does "migralepsy" means?

When a seizure occurs during or immediately followinga migraine aura.


Not includes in the ILAE list of conditions

what disease caused by contiguous gene defect?

1. Miller-Dicker


2. Corronellia De lange


3. Norman-Roberts

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



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

What is the mechanism of anapleudity?

Non disjunction in the maternal miosis.


During the first germ cell miosis 2 chromosomes do not seperate

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

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

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

Classic presentation of ChaT def.

Sudden episodes of apnea provoked by stress or w/o apparent cause.


Hypotonia

In which cong. Myasthenia syndrome the ocular muscles are not commonly involved?

Slow channel syndrome-kinetic defect in the AchR

Rippling muscle sign can be found in AR LGMD6= Rippling muscle dis. And in ???

Episodic ataxia type 1

Which mutations in congenital myasthenia are in genes involving in development and maintance of the end plate?

MuSK


Rapsin


Agrin


LRP4


DOK 7

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

typical hand to which syndrome? 
what other clinical features? 

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



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



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***

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

typical faces of which syndrome? 
gene?
clinical features?

typical faces of which syndrome?


gene?


clinical features?

Allagile


GAJ1 or notch 3


*cholestasis


* butterfly shaped vertebrae


*post. embryotoxon


* cong. cardiac defects


*CNS malformations



MeCP2 duplication- what is the clinical features?

Males


profound MR


spastic quadriplegia


seizures

Isolated autism spectrum disorder- what is the commonest genetic findings?

Copy number variations in 5-7% of kids

diagnosis?
describe the image
in what other disease adrenal insufficiency is a clinical finding?

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

In which leukodystrophies post natal growth retardation is common? 

In which leukodystrophies post natal growth retardation is common?

Cockayne


Hypomyelination, hypogonadism, hypodontia



11 yO boy with hx. of cataract removal is presented with the following finding. 
Describe? 
diagnosis?
clinical features?

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

Nystagmus is a typical early finding in which leukodystrophies?

Pelizaeus Merzbacher and PZM like disorders


Canavan


SOX 10 related disorders

Macrocephaly and leukodystrophy: which diseases?

Alexander


Canavan


Megalencephalic-Leukodystrophy with subcortical cysts