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Peds neuro boards, V2 > Congenital and neurocutaneous d/o's > Flashcards

Congenital and neurocutaneous d/o's Flashcards

1
Q

Causes of Megalencephaly

Category A (2)

Category B (10)

A

Canavan

Anatomic

  1. primary megalencephaly (familial trait, acondroplacia, Sotos, etc)
  2. Neurocutaneous disorders (NF, TS, incontinentia pigmenti, hypomelanosis of Ito, epidermal nevus syndrome)

Metabolic _M(3)_egancephaly = G(3)ot a Large Kranium

  1. MSUD, Metachromatic Leukodystrophy, Mucopolysaccharridoses
  2. Glutaric aciduria type 1, galactosemia, gangliosidosis
  3. Leukoencephalopathy w/ swelling and cysts
  4. Krabbe’s
  5. Canavan’s
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2
Q

What causes Dandy-walker malformation?

What is the effect?

A

Failure of foramen of Magendie to adequately open

  1. Leads to ballooning of roof of 4th ventricle
  2. aplasia of posterior cerebellar vermis
  3. formation of large cyst occupying majority of posterior fossa
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3
Q

Klippel-Feil syndrome

  1. What is it?
  2. What is it associated with?
A
  1. Congential fusion of at least 2 cervical vertebrae craniocervical skeleton
  2. associated with chiari malformations
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4
Q

What is the mechanism behind X-linked hydrocephalus?

A
  1. Stenosis of the aqueduct of Sylvius
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5
Q

This NADH-TR stained section below shows what?
Suggestive of what Disease?
What are the symptoms?

  • neuromuscular (2)
  • Dysmorphic features (4)
A
  1. Type 1 fiber predominance and atrophy of NADH-TR staining
  2. Congenital fiber-type disproportion myopathy
  3. Symptoms
    1. congenital / infantile hypotonia
    2. depressed reflexes
    3. dysmorphic features
      1. Arched palate
      2. contractures
      3. facial weakness (ptosis, disturbed ocular motility)
      4. scoliosis (due to axial > appendicular weakness)
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6
Q

Joubert Syndrome

  1. Inheritance
  2. Defect of _____
  3. Symptoms (8)
  4. Imaging
A

“Silly, Simple Joubert, has wobbly arms and eyes, a big forehead and a big tongue, and pants oddly” (think “brainy” from hey arnold)

  1. Autosomal recessive
  2. Defects in formation of Cilia (silly)
  3. Symptoms
    1. Early hypotonia and ataxia (“wobbly arms”)
    2. Developmental delay (simple)
    3. abnormal eye movements (wobbly eyes)
    4. occulomotor apraxia (wobbly eyes)
    5. Prominent forehead
    6. Breathing dysregulation (irregular panting)
    7. protruding tongue (may seem to be “panting”)
  4. “molar tooth sign” on MRI
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7
Q

Categories of Cortical development abnormalities (3)

A
  1. Abnormal Cell proliferation or apoptosis
  2. Defects in Cell migration
  3. Defects that occur after cell migration
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8
Q

Main distinguishing feature between Fukuyama type and Walker-Warburg type of muscular dystrophy

A

Walker-Warburg type presents with eye abnormalities such as cataracts

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9
Q

Ataxia Telangiectasia

  1. Inheritance and mutation
  2. symptoms
    1. Classic triad
    2. Other (4)
  3. Testing (4)
  4. Treatment (3)
A

“need money from the ATM? ask Pappy or MOTHer”

  1. Autosomal recessive mutation of ATM gene (ch11)
  2. Symptoms =
  3. Triad of
    1. Ataxia (initially proximal, then spreads distally)
    2. Telangiectasia
      1. (around 2-10 years)
    3. Mucus (frequent sinopulmonary infections)
  4. Other features
    1. papulosquamous rash on face
    2. Risk of Malignancy
    3. Oculomotor apraxia
    4. Thymic Hypoplasia (due to lack of immune cells)
  5. Testing
    1. Serum AFP and CEA (often elevated)
    2. IgG (especially subclass 2 and 4), IgA, and IgE = low
    3. Consider ATM gene testing
    4. MRI (may show cerebellar atrophy)
  6. Treatment
    1. Agressive treatment of infections
    2. avoiding radiation
    3. screening for cancers
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10
Q

Genes associated with Craniosynostosis (4), their inheritance, and their associated conditions

A

The Crazy carnival is open! if you forget where it is, Cruise past pfeiffer airport and listen for the muenke’s. To park, twist south, and look for the Effin X”

  1. FGFR2 (ch10): AD
    1. Apert
    2. Pfeiffer syndrome
    3. Crouzon
  2. FGFR3: AD
    1. Muenke syndrome
    2. Crouzon with acanthosis nigrans
  3. TWIST1: AD
    1. Saethre-Chotzen
  4. EFNB1: X-linked
    1. Craniofrontonasal Syndrome
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11
Q

Soto’s Syndrome

  1. AKA
  2. Predominant Gene mutation and inheritance
  3. Symptoms (6)
A

(imagine a review of a poor starfleet captain).

“William Soto’s got an Ego, but he’s Not So Bright, and he’s weak and will bend or seize under pressure, cant’ make connections

  1. Cerebral gigantism (Ego)
  2. NSD1 > autosomal Dominant
  3. Symptoms
    1. Developmental delay (bright)
    2. Hypotonia (weak)
    3. Joint laxity (bend)
    4. Seizures
    5. Agenesis of corpus collosum (can’t make connections)
    6. _Wilm’_s tumor
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12
Q

What does this show?

A
  1. Aqueductal stenosis
  2. enlarged third ventricle
  3. Tonsillar herniation (chiari I)
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13
Q

Embryology Quick notes:

Week 4

Week 5

Week 6

Week 28

A
  1. Week 4: notorhord forms
  2. Week 5: neural tube closes
  3. Week 6: brain divided into 5 vescicles
  4. Week 28:
    1. Brain develops rapidly
    2. Nervous system develops enough to control some body functions
    3. Eyelids open and close
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14
Q

Causes of Neural Tube Defects (4)

A
  1. Folate deficiency (major cause)
  2. maternal hyperthermia
  3. maternal DM
  4. Maternal drug expsosure
    1. VPA
    2. Opiates
    3. Benzene
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15
Q

What is this?

A

Diastematomyelia (doubling of spinal cord)

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16
Q

What is this?

A

Porencephalic cyst

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17
Q

Chiari 1 versus Chiari 2 malformations

A
  1. Chiari 1 malformation
    1. >5 mm tonsilar hearniation and neck pain
    2. Headache common but can be asymptomatic
  2. Chiari 2
    1. Both cerebellum and brainstem pass through foramen Magnum
    2. Vermis may be present
    3. myelomeningocele common
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18
Q

Conditions associated with Chiari malformations (5)

A
  1. Hydrocephalus
  2. Spina bifida
  3. syringomyelia
  4. scoliosis
  5. tethered cord
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19
Q

Types of Holoprosencephaly

A
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20
Q

Holoprosencephaly:

associated conditions (7)

A

POOCCHES

  1. Pituitary dysfunction
  2. Optic problems
    1. Cyclopia
    2. hypotelorism
  3. Olfactory problems (proboscus)
  4. Cleft lip / single incisor
  5. Cholesterol biosynthesis errors
  6. Hydrocephalus
  7. Epilepsy
  8. Spina Bifida
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21
Q

CNS anomalies associated with agenesis of corpus callosum (8)

A

“Dandy Andy, cardi, aicardi, Middi-muscly, holo-schizenchephaly”

  1. Dandy walker
  2. Andermann syndrome (Andy)
    1. 15Q13 - autosomal recessive
    2. Sensorimotor neuropathy
    3. tremor
    4. developmental delay / ID
  3. Cardiac abnormalities
  4. Aicardi syndrome
    1. Agenesis of CC, epilepsy (spasms), retinal Lacunaes
  5. Midline defects (Middi)
  6. Musculoskeletal (muscly)
  7. Schizencephaly
  8. holoprosencephaly
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22
Q

Genetic causes of Schizencephaly (3)

A
  1. EMX1 (10q26)
  2. SIX3 (2p21)
  3. SHH (7q36)
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23
Q

What is this?

A

Agenesis of Corpus Callosum

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24
Q

Other associated (extra-CNS) malformations associated with schizencephaly and common cause

A
  1. Gastroschisis
  2. bowel atresia
  3. amniotic band dysruption sequence

Over half = 2/2 vascular dysruption

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25
Q

What is this?

A

Schizencephaly + polymicrogyria

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26
Q

Genetic (6) causes for lissencephaly, along with Gene and other associated features

A
B
C
D
E
F (condition + 4 more features)

A
  1. LISX1: (DCX)
    1. Associated with Agenesis of corpus callosum
    2. Associated with Double cortex in females
  2. LISX2: (ARX)
    1. Ambiguous Genetalia
  3. LIS1: 17p13.3
    1. Typically posterior predominance
    2. May also have double cortex
  4. LIS2: 7q22
  5. LIS3: 12q12-q14 (AUTOSOMAL DOMINANT)
  6. Miller-Dieker Lissencephaly syndrome (17p13.3)
    1. Autosomal dominant
    2. infantile spasms
    3. Omphalocele
    4. Duodenal atresia
    5. congenital heart defects
27
Q

Non-genetic cause for lissencephaly

A

Infection before 16-18 weeks

28
Q

Miller-Dieker Syndrome

  1. Inheritance
  2. Mutation
  3. Features (5)
A
  1. Autosomal Dominant
  2. MDLS: 17p13.3
  3. Features
    1. Infantile spasms
    2. omphalocele
    3. duodenal atresia
    4. congeniatl heart defects
    5. facial dysmorphia (hypotelorism, broad forehead)
29
Q

Conditions associated with Hemimegalencephaly (3)

A
  1. Epidermal nevus syndrome
  2. Hypomelanosis of Ito
  3. Epilepsy (often intractable, may need hemispherectomy)
30
Q

What is this?

A

Dandy-Walker syndrome

31
Q
  1. What is this?
  2. Primary inheritance
  3. Symptoms (3)
  4. Treatment
  5. Prognosis
A
  1. Pontocerebellar hypoplasia
  2. Up to 7 subtypes, mostly mitochondrial
  3. Symptoms
    1. Progressive microcephaly
    2. severe cognitive / motor handicaps
    3. seizures
  4. Treatment
    1. Symptomatic
  5. Prognosis
    1. Poor, mostly die during infancy or childhood
32
Q

Features of Rhombencephalosynapsis (5)

A
  1. Vermis hypoplasia
    1. Absence of anterior vermis
    2. deficiency of posterior vermis
  2. Fusion of cerebellar hemispheres
    1. may have fusion of dentatenuclei and middle cerebellar peduncles
  3. Diamond shaped fourth ventricle
  4. Dysgenesis of corpus callosum
  5. may have fused thalami
33
Q

MRI finding in Kernicterus

A

T2 hyperintinseity of Globus Pallidus

34
Q

What is this?

A

Shagreen Patch (TS)

35
Q

What are these?

A

Cortical tubers (TS)

36
Q

What is this?

A

Incontinentia Pigmenti: vescicular stage (birth - 2 weeks)

37
Q

What is this?

A

Incontinentia Pigmenti (hyperpigmentation stage along lines of Blaschko): 3-6 months

38
Q

What is this?

A

Hypotontia (Incontinentia Pigmenti)

39
Q

What is this

A

Ocular telangiectasia (ataxia telangiectasia)

40
Q

Ataxia Telangiectasia:

“non-neurologic” features

Immunity

  • Why? (2)
  • What are they at risk for? (2)

Endocrine (3)

A
  1. Abnormal immunity
    1. Lack of t-helper cells
    2. Absent IgA and/or IgE, low IgG
    3. Recurrent infections
    4. Susceptible to neoplasms, especially from ionizing radiation due to impaired ability to repair broken DNA
  2. Endocrine abnormalities
    1. Ovarian agenesis
    2. testicular hypoplasia
    3. insulin resistant diabetes
41
Q

Ataxia Telangiectasia:

Lab abnormalities

A
  1. Elevated alpha fetoprotein (AFP)
  2. Elevated Carcinoembryonic antigen (CAE)
42
Q

What is this?

A

Retinal hemangioblastoma (VHL)

43
Q

Hypomelanosis of Ito

  1. Inheritance
  2. Findings (8)
A
  1. Somatic mosaicism (xp11)
  2. Features (HHypomelanosis of E__EEEyeTo)
    1. Hands (H)
      1. polydactyly / syndactyly
    2. Grey matter Heterotopia (H)
    3. Epilepsy (E)
    4. (3 E’s)Eye
      1. Iris coloboma
      2. cataract
      3. hypertelorism
    5. Irregular teeth (T)
    6. MR
44
Q

What is this?

A

Whorled skin pattern (hypomelanosis of Ito

45
Q

What is this?

A

Linear Sebaceous Nevus Syndrome

46
Q

Linear Sebaceous Nevus Syndrome

  1. Inheritance
  2. Symptoms
  • “head” (5)
  • “not head” (3)
A
  1. Thought to be lethal AD mutation, thus only seen through mosaicism
  2. Features
    1. “head”
      1. hemimegalencephaly
      2. MR
      3. epilepsy
      4. Ocular abnormalities
    2. “Not head”
      1. skeletal abnormalities
      2. cardiovascular abnormalities
      3. urogenital abnormalities
47
Q

Klippel-Trenaunay-Weber Syndrome

  1. Inheritance
  2. Symptoms (3 + 4)
A
  1. Sporadic mutation, 8q22.3
  2. Triad
    1. Port-wine stain
    2. varicose veins
    3. bony and sof tissue hypertrophy of extremity
  3. May have
    1. Polydactyly / syndactyly
    2. MR
    3. Epilepsy
    4. Glaucoma
48
Q

Cobblestone lissencephaly

  1. AKA
  2. Associated conditions (3)
A
  1. Formerly lissencephaly type 2
  2. Disorder of neuronal over-migration
  3. Associated with
    1. Congenital muscular dystrophies
      1. Fukuyama congenital muscular dystrophy
      2. muscle eye brain disease
      3. walker-walburg syndrome
49
Q

Walker-Warburg syndrome

  1. AKA
  2. Inheritance
A

“Mark Walburg is HARD, but can’t Read

  1. HARD syndrome
    1. Hydrocephalus
    2. Agyria
    3. Retinal Dysplasia
  2. Can also have cataracts
  3. Autosomal recessive
50
Q

muscle-eye brain disease

  1. Inheritance / mutation
  2. Associated features
    1. Muscle
    2. Eye (5)
    3. Brain (3)
A

POMGNT1 gene (autosomal recessive)

  1. Muscle
    1. Congential muscular dystrophy
  2. Eye abnormalities
    1. retinal / iris / choroidal hypoplasia
    2. myopia
    3. glaucoma
    4. Cataracts
    5. coloboma
  3. Brain
    1. Intellectual disability
    2. seizures
    3. Cobblestone lissencephaly
51
Q

Types of Plagiocephaly

A
52
Q

What is this?

Associated features:

  • Triad:
  • other features
    • Brain (2)
    • Face (3)
    • Bone (2)
    • other (2)
A
  1. Hutchinson teeth (congential syphilis)
  2. “Hutchinson triad” (sensorineuronal hearing loss interstitial keratitis, hutchinson teeth)
  3. other features
    1. Brain
      1. Hydrocephalus
      2. MR
    2. Face:
      1. Saddle nose
      2. Rhinorrhea / pneumonia
      3. Periositis
    3. ​Bone
      1. ​Osteochondritis
      2. Saber shins (below)
    4. ​Other
      1. HSM
      2. Maculopapular rash
53
Q

Common symptoms associated with Spina Bifida (3)

A
  1. Leg weakness
  2. club foot
  3. Allergy to latex (68%)
54
Q

Location of primary zone of neural tube

A

Ventricular zone

55
Q

What primitive structure does the peripheral nervous system arise from?

A

Neural crest cells

56
Q

Closure of what suture causes Trigonocephaly

A

Metopic suture

57
Q

What disorder results in:
neonatal hypotonia
global developmental delay
normal to accelerated growth
absent - severely delayed speech
autistic behavior
dysmorphic facies (long narrow head, ptosis, prominent ears, and large / fleshy hands and feet)

A

Phelan-McDermid syndrome (22q13 deletion syndrome)

SHANK3 mutation

58
Q

Mother of patient with tuberous sclerosis asks what chances her baby will have autism.

What factors increase risk of autism in TSC patients?

A
  1. TSC2 mutation (though can also be seen in TSC1)
  2. early-onset infantile spasms (especially if temporal lobe focus)
59
Q

Name suture corresponding to the following:

brachycephaly

Trigonocephaly

Parallelogram-shaped head

Scaphocephaly

A
  1. Brachycephaly = bilateral coronal suture closure
  2. Trigonocephaly = Metopic suture
  3. Parallelogram-shaped = Lambdoid suture (lambdoid synostosis)
  4. Scaphocephaly = saggital suture (this is most common type)
60
Q

Patient with Cafe’ au lait spots also has absent DTR’s and oculomotor apraxia

What would you look for?

A

Ataxia-Telangiectasia syndrome

(defect in ATM gene), typically polyneuropathy and abset DTR’s, increased cancer risk

61
Q

MRI abnormality common in Ataxia Telangiectasia

A

Cerebellar atrophy

62
Q

PHACES syndrome
inheritance
Features

A

Sporadic

Features

  • (P)osterior fossa malformations
  • (H)emangioma of face
  • (A)rterial malformations
  • (C)oarctation of Aorta (and other heart abnormalities)
  • (E)ye abnormalities
  • (S)ternal clefting and (S)upraumbliical Raphe
63
Q

Incontinentia Pigmenti

Inheritance / Gene
Symptoms (8)

A

X-linked Dominant mutation in NF-kB Essential Modulator (NEMO)

NNEMMMO, KanSas

  • (N)o teeth (hypodontia), Dystrophic Nails
  • (E)pilepsy
  • (M)outh (micropthalmos) and (M)ental retardation, Microcephaly
  • (O)ptic atrophy and other eye problems
    • Cataracts
    • Retinal vascular diseases
  • Kernicterus
  • Spasticity

Peds neuro boards, V2 (29 decks)

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