Chapter 10: Peds #4

Front 1

What is the most common childhood abnormality/disability?
Second most common?

Back 1

1. CP
2. Spina Bifida

Front 2

Where is the highest incidence of spina bifida?
Lowest?

Back 2

highest = UK
lowest = japan

Front 3

Name 5 environmental risk factors for developing spina bifida

Back 3

1. Low socioeconomic
2. midSPRING conception
3. Maternal OBESITY
4. Anticonvulsant exposure (valproic acid, carbamazepine)
5. Maternal febrile illness

Front 4

What supplement has been shown to significantly reduce the ocurrence & recurrence of neural tube defects?

Back 4

FOLIC ACID

*0.4 mg/day

Front 5

In the embryo when does normal neural tube closure begin?

Back 5

3rd week of gestation

*starts mid cervical and goes both cephalad and caudal
*defect in closure is thought to actually happen at around day 26

Front 6

Which body fluids are tested in order to detect neural tube defects prenatally -how are they collected?
What two substances are measured specifically?

Back 6

Maternal serum, amniotic fluid collected via blood draw & AMNIOCENTESIS
- Measuring
1. Alpha Feto Protein (AFP) in amniotic fluid
2. Acetylcholinesterase

Front 7

What is the ideal time to have an amniocentesis performed in order to look for neural tube defects?

Back 7

16-18 weeks gestation
*nearly 100% accurate for detecting elevated amniotic fluid AFP
*80% reliable in weeks 13-15

Front 8

How is it possible for a child to be born with a neural tube defect even though amniocentesis at 16-18 weeks showed normal amniotic fluid AFP levels?

Back 8

Amniocentesis can only detect elevated AFP if the neural tube defect is OPEN (not covered by skin)
- CSF needs to be able to leak out in order for AFP to be elevated

Front 9

What is the ideal time to have a fetal ultrasound performed in order to look for neural tube defects?

Back 9

16-24 weeks gestation

*>90% reliability

Front 10

What are the two major types of Spina Bifida?

Back 10

1. Occulta - no herniation
2. Cystica - there is hernation of spinal cord contents
- meningocele
- myelomeningocele
- myelocele

Front 11

What does spina bifida "APERTA" mean?

Back 11

refers to any NTD lesion in which deformity is OPEN TO THE ENVIRONMENT (ie, any category of spina bifida CYSTICA)

Front 12

What is are some frequent physical exam findings that indicate spina bifida occulta?

Back 12

- pigmented nevus
- angioma
- hirsute patch
- dimple
- dermal sinus

*usually lumbosacral

Front 13

What type of spina bifida is associated with Arnold-Chiari malformation?

Back 13

CYSTICA

Front 14

Motor paralysis in spina bifida is usually UMN or LMN type?

Back 14

LOWER MOTOR NEURON

Front 15

What type of spina bifida?
Failure of fusion of the posterior elements of the vertebrae.

Back 15

OCCULTA

Front 16

What type of spina bifida?
The protruding sac contains meninges and spinal fluid but NOT the spinal cord.

Back 16

MENINGOcele

*meningo = meninges

Front 17

What type of spina bifida?
The protruding sac contains meninges, spinal cord, & spinal fluid.

Back 17

MYELOMENINGOcele

*myelo = spinal cord
*meningo = meninges

Front 18

What type of spina bifida?
Cystic cavity is in FRONT of the spinal cord

Back 18

MYELOcele

*This is not a cystic "sac" it is an actual CAVITY that pushes the spinal cord out through the defect

Front 19

What type of spina bifida?
Arnold-Chiari malformation Complicated by hydrocephalus in over 90% of the cases

Back 19

MYELOMENINGOCELE

Front 20

What type of spina bifida?
Occurs in <10% of spina bifida cystica

Back 20

MENINGOCELE

Front 21

What type of spina bifida?
In the absence of other underlying malformation neurologic signs are normal

Back 21

OCCULTA
MENINGOCELE

Front 22

What type of spina bifida?
Rare associated with SACRAL LIPOMA and TETHERED CORD

Back 22

OCCULTA

*these children should be followed closely for these reasons

Front 23

What type of spina bifida?
Motor paralysis, sensory deficits, neurogenic bowel and
bladder

Back 23

MYELOMENINGOCELE

Front 24

What is the most common veretebral level for spina bifida occulta to occur?

Back 24

L5-S1

Front 25

What type of spina bifida?
Affects the overwhelming majority of those with spina bifida cystica

Back 25

MYELOMENINGOCELE

Front 26

What type of spina bifida?
Exposed spinal cord without overlying skin or even meninges

Back 26

MYELOCELE

Front 27

40% of the associated deficits caused by spina bifida are due to a lesion at what spinal cord levels?
What are the deficits seen?

Back 27

T6-T12
- complete leg paralysis (flaccid>spastic)
- hip/knee flexion contractures (frog leg)
- kyphosis/scoliosis
- equinus foot
- bowel/bladder dysfxn

Front 28

EARLY hip dislocation is a deficit caused by spina bifida due to lesions at what spinal cord levels?

Back 28

L1-L2-L3

Front 29

LATE hip dislocation is a deficit caused by spina bifida due to lesions at what spinal cord levels?

Back 29

L4-L5

Front 30

Knee EXTENSION contracture is a deficit caused by spina bifida due to lesions at what spinal cord levels?

Back 30

L4-L5
*knee extension via quads (L2, L3, L4) is unopposed by paralyzed hamstrings (L5, S1)

Front 31

DORSIFLEXION (calcaneous foot deformity) of the ankle is a deficit caused by spina bifida due to lesions at what spinal cord levels?

Back 31

L4-L5 -lower lumbar

*Tibialis anterior (L4,L5,S1) may still be innervated while gastroc/soleus (S1,S2) are completely paralyzed
*Lower thoracic or upper lumbar = rigid club foot

Front 32

What associated deficits will a patient with spina bifida that affects only the sacral levels (S1,S2,S3,S4) have?

Back 32

1. Bowel and bladder dysfunction
2. Pes cavus foot due to intrinsic muscle denervation
3. Clawing of toes due to intrinsic muscle denervation

*plantar branches of tibial nerve innervate foot intrinsics

Front 33

If a child has hydrocephalus at birth when does it become symptomatic?

Back 33

During the first week of life

Front 34

What is an Arnold-Chiari malformation?

Back 34

ACM II: downward displacement of the medulla and brainstem through the foramen magnum with associated kinking of the brainstem.

Front 35

If a child with spina bifida has an Arnold-Chiari malformation he/she likely has what type?
He/she also likely has what associated complication?

Back 35

Myelomeningocele
HYDROCEPHALUS (90%)

Front 36

How do you typically treat hydrocephalus associated with spina bifida?

Back 36

>80% of children require ventriculoperitoneal shunting with revision.

*revision in 1st yr =3-50%, 2nd yr = 50-75%, 5 yrs =100%

Front 37

What are the two most common complications following shunting of a hydrocephalus associated with spina bifida?

Back 37

1. INFECTION
2. obstruction

Front 38

What correlation exists between the occurrence of hydrocephalus and the level that spina bifida occurs at?

Back 38

Thoracic >> lumbar >> sacral

*the higher relative to the thoracic level the NTD lesion is, the more likely to develop hydrocephalus

Front 39

Decompression of ACM II is sometimes necessary to halt the progression of what spina bifida associated complication?

Back 39

forebrain & hindbrain malformations

Front 40

A spina bifida patient that presents with progressive weakness, pain, urologic dysfunction, & possible scoliosis should be worked up for what spina bifida associated complication?

Back 40

1. TETHERED CORD -can go undiagnosed for several years
2. Syringomyelia

*tethered = abnormal attachment of cord at distal end
*remember the bone growth in the spine outpaces the lengthening of the spinal cord so spinal cord normally ends at L1-L2 level

Front 41

Syringomyelia usually occurs in what region of the spine?

Back 41

CERVICAL

Front 42

What is the most frequent single cause of death in myelodysplasia?

Back 42

central RESPIRATORY dysfunction

Front 43

hypERtonic (spastic) bladder is most common in myelomeningocele patients that are affected at what region of the spine?

Back 43

THORACIC

*contains SYMPATHETIC innervation, which serves to relax the bladder wall and constrict the neck (storage)

Front 44

hypOtonic (flaccid) bladder is most common in myelomeningocele patients that are affected at what region of the spine?

Back 44

SACRAL

*contains PARASYMPATHETIC innervation, which serves to contract the bladder wall and relax the neck (emptying)

Front 45

#1 delayed self care task in myelomeningocele

Back 45

independence with toileting (10-15 years old)

Front 46

Patients with a myelomeningocele lesion ABOVE what level are capable of maintaining anal sphincter tone despite not having rectal sensation?

Back 46

L2

*lesions below this level destroy the spinal reflex arc that maintains tone to the anal sphincter at baseline

Front 47

Why is the presence of a bulbocavernous or anocavernous reflex associated with a greater chance of bowel continence?

Back 47

Indicates that the spinal reflex arc is INTACT

*lesions below L2 destroy the spinal reflex arc that maintains tone to the anal sphincter at baseline

Front 48

Increased pressure on the HYPOTHALAMUS due to ACM II from myelomeningocele may cause what spina bifida associated complication?

Back 48

PRECOCIOUS PUBERTY

*10-20% of myelomeningocele with hydrocephalus

Front 49

What effect does hydrocephalus have on IQ?

Back 49

Hydrocephalus alone does not exclude normal cognitive function. However, its complications,
such as repeated CNS complications with meningitis, can lead to significant deficit.

Front 50

What correlation exists between IQ and the level that spina bifida occurs at?

Back 50

HIGHER LESION = LOWER IQ

Front 51

When is neurosurgical repair of cystic lesions associated with spina bifida usually performed?

Back 51

1st day of life

Front 52

Routine screening intravenous pyelogram is recommended for those with myelomeningocele at what age?

Back 52

2 years old

*Renal US should be performed at 2 WEEKS old to characterize anatomy (look for malformations)

Front 53

RAPIDLY progressing SCOLIOSIS should prompt a workup for what spina bifida associated complication?

Back 53

TETHERED CORD

Front 54

Spina bifida associated spinal deformities (scoliosis, kyphosis) occur most commonly in those with NTD lesions in what region of the spine?

Back 54

THORACIC

Front 55

A spina bifida patient presents with BILATERAL hip dislocation, how do you treat it?

Back 55

You don't -best left alone if there is no restriction of joint motion

*unilateral you do want to treat as they can lead to asymmetric contractures, pelvic obliquity, decubiti, etc.

Front 56

How severe can a knee flexion contracture get before it starts to significantly affect ambulation?

Back 56

less than or equal to 20% (knee can extend to ~145 degrees)

Front 57

What is one possible surgical treatment for a calcaneous foot?

(dorsiflexed)

Back 57

Posterior transfer of TIBIALIS ANTERIOR

*performed at >5 yo

Front 58

All spina bifida patients should be screened for what ALLERGY to what?

Back 58

LATEX

*59% of spina bifida patients have sensitivty to it
*500x increased risk of ANAPHYLAXIS in OR vs control

Front 59

What levels of the spinal cord need to be spared in order for a child wit spina bifida to be able to SIT normally?

Back 59

L4-L5

Front 60

A patient with spina bifida may be able to use AFOs to assist in ambulation if what level is spared?

Back 60

L3 - need to have intact knee extension

Front 61

A child with spina bifida needs to be at least how old to start to learn how to cruch walk?

Back 61

MENTAL age of 2-3 years old

Front 62

In order for a patient with spina bifida to use a RECIPROCATING GAIT ORTHOSIS to aid in ambulation, what muscle action must be preserved?

Back 62

HIP FLEXION

*some lower lumbar spina bifida patients retain this (NTD lesion below L2)

Front 63

Approximately what % of all thoracic, high lumbar, and low lumbar (<15 yo) achieve some degree of community ambulation

Back 63

31-38%

*15-31 yo low lumbar, 95% reach functional community ambulation
*100% of sacral lesions are able to reach functional community ambulation

Front 64

Male sexual function is present in spina bifida patients with lesions below what level?

Back 64

L5

*Reproductive potential is related to LOWER and less severe lesions

Front 65

SMA (spinal muscular atrophy) primarily affects what part of the motor unit?

Back 65

ANTERIOR HORN CELL (cell body of motor neuron)

Front 66

Hepatosplenomegaly is a common sign of what type of neuromuscular disease?

Back 66

METABOLIC MYOPATHY

*acid maltase deficiency (Pompe's)

Front 67

Typically how strong are plantarflexors compared to dorsiflexors?

Back 67

Plantarflexors are SIX TIMES as strong as dorsiflexors

*explains why PLANTARFLEXION contractures of the are seen when both doriflexors & plantarflexors are dysfunctional

Front 68

Name the 4 main categories of NEUROMUSCULAR DISEASE

Back 68

1. Motor neuron disease
2. Peripheral neuropathy
3. NMJ disease
4. Myopathy

Front 69

Which group of muscles exhibits weakness EARLIEST in DUCHENNE?

Back 69

NECK FLEXORS -preschool age

Front 70

In DUCHENNE which muscle group is typically weaker:
1. knee extensors vs. knee flexors
2. hip extensors vs. hip flexors

Back 70

1. knee EXTENSORS are WEAKER (quads)
2. hip EXTENSORS are WEAKER

Front 71

Dystrophin protein is found in what areas of the body?

Back 71

1. Skeletal muscle
2. CARDIAC muscle
3. Brain

Front 72

When do BECKER's patients typically lose the ability to ambulate?

Back 72

Late teens

*duchenne patients are on average wheelchair bound by age 10

Front 73

Which FACIAL muscles in FSH Dystrophy are characteristically spared?

Back 73

- Extraocular muscles
- Masseter
- Temporalis
- Pharyngeal muscles

*Distinguished from Congenital Myotonic Dystrophy "Hatchet Face" = wasting of temporalis & masseter

Front 74

Posterior & lateral scapular winging, high riding scapula, & hyperlordosis can be seen in association with what neuromuscular disease?

Back 74

FacioSCAPULOhumeral Dystrophy

*SCAPULO = SCAPULA!!!

Front 75

What is the gene locus affected by FSH dystrophy?

Back 75

4q35

Front 76

Deficiency in EMERIN leads to what neuromuscular disease?
Pattern of inheritance?

Back 76

EMERY-dreifuss muscular dystrophy (EMD)
X-linked RECESSIVE

Front 77

When does Emery-Dreifuss Muscular Dystrophy (EMD) usually present?

Back 77

adolescence to early adulthood

Front 78

Focal wasting of CALVES & BICEPS is characteristic of what neuromuscular disease?
What is the hallmark sign of this disease?

Back 78

Emery-Dreifuss Muscular Dystrophy (EMD)

Early presence of ELBOW FLEXION CONTRACTURE -d/t wasting of biceps

*may also see heel cord tightness with plantarflexion contractures d/t wasting of calves, tight spine extensors limit cervical/thoracic flexion

Front 79

Those with Emery-Dreifuss Muscular Dystrophy (EMD) also may have abnormalities of what other organ system?

Back 79

CARDIAC -can be lifte threatening, may need pacer

*holter monitoring is sometimes necessary to detect abnormalities

Front 80

Pattern of inheritance for LIMB GIRDLE MUSCULAR DYSTROPHY?
Age of onset?

Back 80

Auto RECESSIVE or DOMINANT (wide spectrum of different genetic anomalies)
- onset varies from early childhood to adult

*Can present like Duchenne or Becker's but genetic defects are distinct (not at all related to Xp21).

Front 81

What is the pattern of inheritance for MINICORE myopathy?

Back 81

Auto-RECESSIVE

*CENTRAL core is auto DOMINANT, so think of MINI core as a smaller/mini/less dominant (ie, recessive) type of central core

Front 82

What is the pattern of inheritance for Schwartz Jampel Syndrome?
What are some of its characteristic features?

Back 82

Auto-RECESSIVE
- DWARFISM
- hypotonia
- diffuse BONE DISEASE
- micrognathia w/ flattened face

*nonprogressive congenital myotonic myopathy

Front 83

What is the prognosis like for Transient Neonatal Myasthenia?

Back 83

Self limited - resolution in approximately 2-3 weeks

*mother with MG transfers some of her Anti-ACh receptor Abs to neonate through placenta, but child eventually clears them, can also administer pyridostigmine/prostigmine

Front 84

What is the pattern of inheritance for Congenital or Infantile Myasthenia?

Back 84

Auto-RECESSIVE -but multifactorial

*AChR antibodies are ABSENT, mothers do not have MG in this case