Neuro Final 20: Ped Clinical Neuro Martin

Front 1

Familial large head sx
1. How large?
2. Growth documentation?
3. Neural exam and milestones?
4. What kind of heads do the parents have?
5. Exams?

Back 1

1. Head larger than 97th percentile (>2 SD from mean)
2. Growing along a normal growth curve
3. Normal neurological exam and developmental milestones
4. Parent(s) with similarly large heads
5. Normal CT Scan/MRI

Front 2

Macrocephaly Causes? 4
Read it but it's whatever...

Back 2

1. Neurocutaneous disorders - neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, Klippel-Trenaunay-Weber syndrome

2. Metabolic disorders
- Leukodystrophies (eg, Alexander, Canavan, megalencephalic leukoencephalopathy)
- Lysosomal storage disorders (eg, Tay-Sachs, mucopolysaccharidosis, gangliosidosis)

3. Increased bone - from thalassemia or primary bone disorders such as skeletal and cranial dysplasias such as achondroplasia, osteogenesis imperfecta, cleidocranial dysostosis, metaphyseal dysplasia, osteopetrosis, hyperphosphatasia)

4. Increased cerebrospinal fluid

Front 3

Review:
1. Where is CSF produced?
2. CSF circulation?
3. CSF pressure gradient flow?
4. CSF absorption?

Back 3

1. the choroid plexus within the lateral, 3rd and 4th ventricles
2.circulates through the ventricular system and exits the ventricular system by the cisterna magna through the foramina of Luschka and Magendie
3.Normal flow of CSF follows a pressure gradient from pressure as high as 180 mm/H2O in the ventricles to ~90 mm/H2O in the superior sagittal sinus. It is absorbed primarily into the vascular system via the arachnoid villae.
4. lymph paranasal sinuses, along nerve root sleeves, and the choroid plexus

Front 4

How is the production of CSF controlled by neuro system?

Back 4

- Stimulation of the adrenergic system decreases CSF production

- Excitation of the cholinergic nerves increases CSF production

Front 5

What is Hydrocephalus?

Back 5

excess CSF within the ventricular system

Front 6

What is obstructive or non-communicating hydrocephalus?

Back 6

Blockage of this flow anywhere within the substance of the brain (i.e. before the CSF passes through the foramina of Luschka and Magendie) results in obstructive or non-communicating hydrocephalus.

Front 7

What is communicating or non-obstructive hydrocephalus?

Back 7

Overproduction or decreased absorption at the arachnoid villi results in communicating or non-obstructive hydrocephalus.

Front 8

The signs and sx of Hydrocephalus depends on what? 3

Back 8

1. Age at onset
2. Cause of obstruction
3. Rate of increase in ICP

Front 9

Sxs of Hydrocephalus in Infants 2 Early and 6 Later?

Back 9

1. Rapid increase in head size (as seen by plotting serial head circumference measurements against a normal set of curves)
2. Large bulging fontanel (in an upright child)

3. Dilated scalp veins
4. Broad forehead
5. Setting-sun eye sign (paralysis of upward gaze)
6. Abnormal long tract signs: hyperactive deep tendon reflexes, clonus, spasticity
7. Irritability/lethargy (general signs of increased ICP)
8. Poor appetite/vomiting (also signs increased ICP)

Front 10

Hydrocephalus: Signs and Symptoms in Older Children 9

Back 10

1. Complaint of headache
2. Deterioration of academic ability
3. (Gradual) change in personality
4. Percussion of skull => “cracked pot sound”
5. Foreshortened occiput (with Chiari malformation)
6. Prominent occiput (with Dandy-Walker malformation)
7. Papilledema
8. Abducens nerve palsy (leading to diplopia)
9. Pyramidal tract signs (UMN syndrome)

Front 11

What is papilledema?
1. How does it occur?
4 sx

Back 11

1. Subarachnoid space is continuous with optic nerve sheath so when it swells this is evident
2. Swelling of optic disc
3. Blurring of the optic disc margins
4. Hyperemia
5. Loss of physiologic cupping

Front 12

Causes of obstructive or non-communicating hydrocephalus 4

Back 12

1. Aqueductal stenosis ( secondary to intrauterine viral infections, e.g. mumps meningoencephalitis; rarely secondary to neurofibromatosis)

2. Aqueductal gliosis* secondary to intraventriclar bleed or meningitis in a neonate (poor immune and easier to bleed in premature babies)

3. Vein of Galen malformations

4. Posterior fossa malformations: brain tumors, Dandy-Walker or Chiari malformation

Front 13

CHIARI MALFORMATION: what is it? when do you get sx and what are they? 4

Back 13

1. Displacement of the cerebral tonsils into the cervical canal => usually no sx until adolescence or adulthood.

2. Recurrent headaches, neck pain, urinary frequency, and progressive lower extremity spasticity.

3. 4th ventricles is flat.

Front 14

What is the Dandy Walker Malformation? What are some other anomalies with it? 2

Back 14

- a cystic expansion of the 4th ventricle with failure of formation of the roof of the forth ventricle => 90% have hydrocephalus.

Other associated anomalies include agenesis of the posterior cerebellar vermis and of the corpus collosum.

Front 15

What are the causes of communicating or non-obstructive Hydrocephalus? 6

Back 15

1. Achondroplasia
2. Benign enlargement of subarachnoid space
3. Choroid plexus papilloma
4. Meningeal malignancy
5. Meningitis
6. Posthemorrhagic

With communicating hydrocephalus you either get over production of CSF or under absorption. Fibrosis of the arachnoid granulations impairs resorption

Front 16

Hydrocephalus Treatment 2

Back 16

1. Acetazolamide and furosemide reduce CSF production, but are not definitive solutions

2. V/P* shunting is palliative not curative

Front 17

What is the prognosis of hydrocephalus and what does it depend on?

Back 17

- Prognosis (in terms of function) seems to depend more on the cause of the hydrocephalus rather than the ventricular dilatation itself.

- The natural history of intrauterine infection, meningitis, tumor, or other disorders determines the prognosis.

Front 18

What reduces CSF production, is not a definitive solution for Hydrocephalus? 2

Back 18

Acetazolamide and furosemide

Front 19

Hydrocephalus: Other problems 4

Back 19

1. Most children have some degree of reduced intelligence

2. Visual problems (strabismus, field defects, poor spatial perception, optic atrophy) are common

3. Accelerated pubertal development is relatively common

4. Motor performance is more greatly affected than intellect because the gray matter of the brain is less affected by the hydrocephalus than the white matter (spasticity or coordination defects)

Front 20

Which of the following will you find in a child with familial macrocephaly?

1. Rapid increase in head growth
2. Cracked pot sound on percussion
3. 1st degree relative with large head
4. History of meningitis

Back 20

Cracked pot sound on percussion

Front 21

Which of the following may be seen in a 10 year old with untreated hydrocephalus?

1. Gaze disturbance
2. Rapid increase in head size
3. Bulging fontanelle
4. Normal funduscopic exam

Back 21

Gaze disturbance

Front 22

What is microcephaly?

Back 22

A head size smaller than 2 SD below the mean due to a small brain: microencephaly

Front 23

What is primary microencephaly?

Back 23

no identifiable insult to the developing brain. Either familial small head or associated with a genetic syndrome

Front 24

What is secondary microencephaly? Examples?

Back 24

sustained a major insult in utero or perinatally
- In utero or perinatal insults may include infection (TORCH=toxoplasmosis, other, rubella, CMV, and HSV), anoxia (HIE=hypoxic ischemic encephalopathy), maternal drug use or vascular events

Front 25

Other anomolies associated with microencephaly:
1. lissencephaly (agyria)
2. micropolygyria
3. schizencephaly
4. macrogyria

Back 25

1. Lissencephaly and Agyria: gyri are poorly developed leading to severe = flat brain

2. Micropolygyria: convolutions are abnormally small, lots small gyri

3. Schizencephaly: an abnormal cleavage of brain tissues caused by maldevelopment

4. Macrogyria - large gyri

Front 26

What is Miller-Dieker syndrome? Genetics?

Back 26

- associated with microcephaly and lissencephaly
- Note a smooth brain with lack of sulci
- MDS-prominent forehead, bitemporal hollowing, anteverted nostrils, a prominent upper lip, and microagnathia.
- Probable partial micro-deletion of 17q13.3

Front 27

What is Schizencephaly? Sxs? 3

Back 27

- An abnormal cleavage or other division of the brain tissues caused by maldevelopment
1. seizures
2. spasticity
3. may develop hydrocephalus

Front 28

Normal Skull of the Newborn.
1. Sutures? 4
2. Fontanelles? 2

Back 28

1. Metopic Suture, Coronal Suture, Sagital Suture, Lambdoid Suture

2. Anterior and Posterior Fontanelle

Front 29

Craniosynostosis Sagittal Suture: what is it and what does it look like?

Back 29

Synostotic scaphocephaly—fusion of the saggital suture

Premature fusing.

Football shaped head with sagittal

Front 30

Craniosynostosis Metopic suture: what is it?

Back 30

Synostotic trigoncephaly—fusion of the metopic suture

Front 31

Craniosynostosis Coronal: What is it?

Back 31

Synostotic brachycephaly—fusion of both coronal sutures Synostotic anterior plagiocephaly—fusion of one coronal suture

Front 32

Craniosynostosis: what is it?

Back 32

Fusion of a single, unilateral suture rarely causes neurologic deficit (but significant deformity)

Front 33

Fusion of two or more sutures =>

Back 33

increased ICP

Front 34

Most Craniosynostosis cases are evident early in infancy? 2

Back 34

misshapen skull

palpable bony ridge replaces suture

Front 35

Tx of Craniosynostosis?

Back 35

Single suture – cosmetic

Multiple sutures – necessary to prevent increased ICP

Front 36

Positional Plagiocephaly
1. causes?
2. tx?

Back 36

No premature fusion of sutures

Caused by repetitive placement in the same position

Cosmetic condition

Treated by repositioning and OMT until resolution (rarely helmet)

Front 37

A 5 month infant is brought to your office. At your visit a few months ago, you noted some flattening of the back of his skull. You advised repositioning. On review of yesterday’s CT scan, you note a premature fusion of bilateral lambdoid sutures. You advise the parents:
1. He should receive OMT
2. He needs an MRI
3. He should receive surgery
4. OMT won’t be enough, he’ll need helmet therapy

Back 37

3 He should receive surgery

Front 38

1. Most common congenital anomaly of nervous system? What is it?

Back 38

1. Neural tube defects - Failure of complete closure of the neural tube between the 3rd-4th week of intrauterine life

Front 39

Causes of Neural Tube Defects? 6

Back 39

1. radiation
2. malnutrition
3. drugs
4. chemicals
5. folate deficiency
6. genetic mutations in folate responsive/dependent pathways

Front 40

The site and extent of failed neural tube closure produce variable-sized defects in different anatomic locations: 5
KNOW!

Back 40

1. Anencephaly
2. Encephalocele
3. Spina bifida occulta
4. Meningocele - Sometimes called Spina bifida cystica
5. Myelomeningocele - Sometimes called Spina bifida cystica

Front 41

What is Anencephaly? Outcome?

Back 41

- Failure of anterior neural tube closure with the presence of exposed rostral mass of neural tissue

- 1:1000 births, approximately 15% are stillborn, the majority die shortly after birth

Front 42

What is Encephalocele? Where does it occur?

Back 42

- Malformation involving defective closure of a portion of the neural tube in association with a bony skull defect

- 75% occur occipitally, but lesions have been noted in the frontal and parietal regions

Front 43

What are the 3 spinal defects?

Back 43

1. Spina bifida occulta
2. Meningocele
3. Myelomeningocele

Meningocele and myelomeningocele are also referred to spina bifida cystica

Front 44

Spina Bifida Occulta: What is it? Sx?

Back 44

1. Midline defect with failure of closure of the posterior vertebral arches and laminae (typically lumbosacral)

2. Without protrusion of meninges or spinal cord

3. Ordinarily asymptomatic and found incidentally on X-ray in 5 to 15% of the general population

4. May have a hairy patch/nevus, a vascular nevus, or a dermoid sinus on overlying skin…such a sinus may penetrate the dura, leading to recurrent CNS infections (very rare)

Front 45

Meningocele: What is it? Sx? 2

Back 45

1. Midline defect in which the meninges herniate through a defect in the posterior vertebral arches, unaccompanied by neural tissue

- gait abnormalities
- loss of bladder control, particularly during periods of rapid growth

Front 46

Myelomeningocele

Back 46

1. Midline defect of the posterior vertebral arches with herniation of meninges and neural tissue

May occur anywhere along the neural axis (>/= 75% lumbosacral)

2. Clinical manifestations depend on the level of the defect and on the degree of the neural tissue herniation, lower is worse

Front 47

Higher vs. Lower Myelomeningoceles

Back 47

High lesions (above T11) are associated with higher morbidity, lower intelligence, and greater disability than low lesions (below L3)

Front 48

Mid-sacral to mid-lumbar region: Myelomeningocele 4

Back 48

- flaccid paralysis of the legs
- lack of touch and pain sensation
- clubfeet and subluxed hips
- Chiari II malformation with hydrocephalus (~80%)

Front 49

Low sacral region: Myelomeningocele 3

Back 49

- bladder and bowel incontinence
- perineal anesthesia
- no motor involvement

Front 50

A child is born with a low lumbar midline defect. MRI shows herniation of meninges through a spinal defect without neural tissue. What should you expect?

1. He will develop worsening spasticity in his legs
2.He may have intermittent incontinence as he grows
3. 80% are associated with Chiari II malformation
4. Lack of touch and pain sensation in the legs

Back 50

2.He may have intermittent incontinence as he grows

Front 51

Care of Children with Meningocele/Myelomeningocele 4

Back 51

1. Immediate surgical intervention as indicated
In some centers, intrauterine closure is showing promise of minimizing neurologic defects.

2. Support of parents through early shock and distress and later financial stress

3. Ongoing oversight and coordination of team approach to care for multiple problems

4. High index of suspicion for meningitis (especially with VP shunt)

Front 52

Care of Children with Meningocele/Myelomeningocele: Problems?

Back 52

Shunting
Orthopedic
Family adjustment
Other neurologic problems: ambulation…learning (~70% normal intelligence with aggressive tx)
Bladder function
Bowel function

Front 53

On the boards you will be asked about the most common cause of neural tube defects. You’ll answer:
Maternal drug use
TORCH infection
Radiation
Malnutrition
B9 deficiency

Back 53

B9 deficiency = folate deficiency