Peds Neuro

Question 1

Prader-Willi Syndrome

Answer 1

-Mental retardation/obesity (over-eats) -Hypotonic as infant - Deletions to part of paternal contribution of Chromosome 15

Question 2

Angelman Syndrome

Answer 2

-Intellectual and developmental disturbances, seizures, jerky movements (esp hand flapping), frequent laughter/smiling, usually happy demeanor; - Loss of normal maternal contribution to a region in Chr 15.

Question 3

Fragile X

Answer 3

-Most commonly known single-gene cause of autism; most common inherited cause of intellectual disability

Question 4

Von Hippau-Lindau Syndrome

Answer 4

-AD - Multiple hemangioblastomas of eye and brain - Neurological symptoms are minimal unless rupture of CNS hemangioblastoma

Question 5

Tuberous Sclerosis -clinical

Answer 5

variable combination of mental retardation, seizures, and adenoma sebaceum, which are angiofibromas that appear on the face as red papules. The kidneys, heart, eyes, lungs are affected as well.

Question 6

Tuberous Sclerosis- genes

Answer 6

-mutation of one of two genes -TSC1 on chromosome 9 encodes for the protein hamartin -While TSC2 on chromosome 16 which encode for the protein tuber in - 2/3 sporadic; 1/3 AD genetic

Question 7

Tuberous Sclerosis- radiology

Answer 7

1) Cortical tubers 2) Subependymal nodules 3) Ventriculomegaly 4) Subependymal giant cell astrocytoma (SEGAs)

Question 8

Tuberous Sclerosis- Derm

Answer 8

1) ash leaf spot 2) Shagreen’s patch (usually lower back) 3) Adenoma Sebaceum -facial angiofibromas 4) Ungual fibromas- nodular fibromas

Question 9

NF2-Chromosome / age of appearance

Answer 9

Chr 22; around age 20 (usually w/CN defects)

Question 10

NF2- clinical

Answer 10

schwannomas, meningiomas, and ependymomas

Question 11

NF1- Chromosome/Age

Answer 11

Chr 17/ before age of 5 ( more common than NF2)

Question 12

NF1- Clinical

Answer 12

-seizures, mental retardation, painful neuropathies from peripheral neurofibromas - cafe-au-laits spots, plexiform neurofibromas, axillary freckling, optic gliomas, thinning of long bones

Question 13

Sturge-Weber Syndrome -clinical

Answer 13

-congenital 1) seizures (early infancy, can be bad) 2) port-wine stain birthmark (overgrowth of capillaries) 3) Usually distribution of the 1st division of trigeminal nerve 4) neuronal loss and calcification in cerebral cortex ipsilateral to birthmark 5) glaucoma common

Question 14

Sturge-Weber Syndrome-radiology

Answer 14

calcification in -“tram tracking pattern”

Question 15

Acute disseminated encephalitis

Answer 15

acute inflammatory disease that often follows an infection or vaccine. It presents with encephalopathy and seizures

Question 16

Rett’s Syndrome -epi

Answer 16

ONLY in girls

Question 17

Rett’s Syndrome-onset

Answer 17

Children appear to grow and develop normally w/ subtle abnormalities ( hypotonia, dif feeding, jerkiness in limb movements)

Question 18

Retts’s Syndrome-CNS

Answer 18

-cognitive/physical defects begin gradually but sometimes suddenly. - between 1-4; lose purposeful use of the hands followed by compulsive hand movements such as wringing/washing. -problem crawling/walking/diminished eye contact

Question 19

Lesch Nyhan - gene

Answer 19

-x-linked -Mutation of hypoxanthine-guanine phosphoribosyl transferase enzyme

Question 20

Lesch Nyhan-clinical

Answer 20

-self mutation -Elevated uric acid-> prone to gout and kidney stones

Question 21

Erb’s palsy

Answer 21

-Neck injury -C5-C6 - Waiter tip deformity ; but can also be flaccidity, medial rotation of the arm. atrophy of biceps/brachioradialis

Question 22

Klumpke’s paralysis

Answer 22

-C8-T1 -lower portion of brachial plexus - arm pulling - effects intrinsic muscles of hand/ flexors of wrist/fingers. -Claw hand

Question 23

-Mental retardation/obesity (over-eats) -Hypotonic as infant - Deletions to part of paternal contribution of Chromosome 15

Answer 23

Prader-Willi Syndrome

Question 24

-Intellectual and developmental disturbances, seizures, jerky movements (esp hand flapping), frequent laughter/smiling, usually happy demeanor; - Loss of normal maternal contribution to a region in Chr 15.

Answer 24

Angelman Syndrome

Question 25

-Most commonly known single-gene cause of autism; most common inherited cause of intellectual disability

Answer 25

Fragile X

Question 26

-AD - Multiple hemangioblastomas of eye and brain - Neurological symptoms are minimal unless rupture of CNS hemangioblastoma

Answer 26

Von Hippau-Lindau Syndrome

Question 27

variable combination of mental retardation, seizures, and adenoma sebaceum, which are angiofibromas that appear on the face as red papules. The kidneys, heart, eyes, lungs are affected as well.

Answer 27

Tuberous Sclerosis -clinical

Question 28

-mutation of one of two genes -TSC1 on chromosome 9 encodes for the protein hamartin -While TSC2 on chromosome 16 which encode for the protein tuber in - 2/3 sporadic; 1/3 AD genetic

Answer 28

Tuberous Sclerosis- genes

Question 29

1) Cortical tubers 2) Subependymal nodules 3) Ventriculomegaly 4) Subependymal giant cell astrocytoma (SEGAs)

Answer 29

Tuberous Sclerosis- radiology

Question 30

1) ash leaf spot 2) Shagreen’s patch (usually lower back) 3) Adenoma Sebaceum -facial angiofibromas 4) Ungual fibromas- nodular fibromas

Answer 30

Tuberous Sclerosis- Derm

Question 31

Chr 22; around age 20 (usually w/CN defects)

Answer 31

NF2-Chromosome / age of appearance

Question 32

schwannomas, meningiomas, and ependymomas

Answer 32

NF2- clinical

Question 33

Chr 17/ before age of 5 ( more common than NF2)

Answer 33

NF1- Chromosome/Age

Question 34

-seizures, mental retardation, painful neuropathies from peripheral neurofibromas - cafe-au-laits spots, plexiform neurofibromas, axillary freckling, optic gliomas, thinning of long bones

Answer 34

NF1- Clinical

Question 35

-congenital 1) seizures (early infancy, can be bad) 2) port-wine stain birthmark (overgrowth of capillaries) 3) Usually distribution of the 1st division of trigeminal nerve 4) neuronal loss and calcification in cerebral cortex ipsilateral to birthmark 5) glaucoma common

Answer 35

Sturge-Weber Syndrome -clinical

Question 36

calcification in -“tram tracking pattern”

Answer 36

Sturge-Weber Syndrome-radiology

Question 37

acute inflammatory disease that often follows an infection or vaccine. It presents with encephalopathy and seizures

Answer 37

Acute disseminated encephalitis

Question 38

ONLY in girls

Answer 38

Rett’s Syndrome -epi

Question 39

Children appear to grow and develop normally w/ subtle abnormalities ( hypotonia, dif feeding, jerkiness in limb movements)

Answer 39

Rett’s Syndrome-onset

Question 40

-cognitive/physical defects begin gradually but sometimes suddenly. - between 1-4; lose purposeful use of the hands followed by compulsive hand movements such as wringing/washing. -problem crawling/walking/diminished eye contact

Answer 40

Retts’s Syndrome-CNS

Question 41

-x-linked -Mutation of hypoxanthine-guanine phosphoribosyl transferase enzyme

Answer 41

Lesch Nyhan - gene

Question 42

-self mutation -Elevated uric acid-> prone to gout and kidney stones

Answer 42

Lesch Nyhan-clinical

Question 43

-Neck injury -C5-C6 - Waiter tip deformity ; but can also be flaccidity, medial rotation of the arm. atrophy of biceps/brachioradialis

Answer 43

Erb’s palsy

Question 44

-C8-T1 -lower portion of brachial plexus - arm pulling - effects intrinsic muscles of hand/ flexors of wrist/fingers. -Claw hand

Answer 44

Klumpke’s paralysis