Ch 10 - Peds: Spina Bifida and NMD

Question 1

Where are the highest and lowest incidence of Spina bifida?

Answer 1

Highest incidence occurs in the British Isles, Ireland, Wales, and Scotland
Lowest in Japan

Question 2

What is spina bifida occulta?

Answer 2

Failure of fusion of the posterior elements of the vertebrae

Question 3

What is the MC SC level involved with spina bifida occulta?

Answer 3

Lumbosacral or sacral region

MC L5 and S1 levels

Question 4

What is menigocele?

Answer 4

Protruding sac contains meninges and spinal fluid

Question 5

What is the MC SC level involved with spina bifida cystica?

Answer 5

75% lumbar and lumbosacral segments

Question 6

What is myelomeningocele?

Answer 6

Protruding sac contains meninges, spinal cord, and spinal fluid

Question 7

What is myelocele?

Answer 7

Cystic cavity is in front of the anterior wall of the spinal cord

Question 8

What is myelomeningocele associated with?

Answer 8

Arnold-Chiari malformation

Complicated by hydrocephalus in over 90% of the cases

Question 9

What % of children with hydrocephalus requiring shunting?

Answer 9

> 80% require VP shunting

Question 10

What are typical signs of a tethered cord?

Answer 10

Weakness
Scoliosis
Pain
Ortho deformity
Urologic dysfunction

Question 11

What are presenting symptoms of Syringomyelia?

Answer 11

Deterioration of neuro function
Pain and temp sensory deficits
Loss of motor function esp UE
Inc spasticity 
Hyperreflexia

Question 12

What is best to evaluate for Syringomyelia?

Answer 12

MRI

Question 13

What is the MCC of death in myelodysplasia?

Answer 13

Central resp dysfunction

Question 14

What is common with Proteus urinary tract infections?

Answer 14

Calcinosis

Question 15

What is associated with greater chance of bowel continence in spina bifida?

Answer 15

Presence of bulbocavernosus or anocavernosus reflex

Question 16

Describe Intellectual function in myelodysplasia.

Answer 16

The higher the lesion, the lower the IQ score

Question 17

Age when independent self-catheterization may be achieved?

Answer 17

5-6 yo

Question 18

Why is there a 500x inc risk of anaphylaxis in the OR with spina bifida?

Answer 18

Latex allergy

Question 19

Describe ambulation in thoracic myelodyplasia.

Answer 19

Assistive devices for passive standing, usually started at 12 to 18 months

Question 20

Describe ambulation in lower thoracic and lumbar myelodyplasia.

Answer 20

Reciprocal gait orthosis (RGO), used after the age of 3 years

Question 21

Describe ambulation in lumbar myelodyplasia.

Answer 21

Bracing is usually not required, but patients may benefit from AFOs if plantar flexors are spastic or nonfunctional

Question 22

Describe functional community ambulation by level (percentages)

Answer 22

Thoracic: 0-33%
High lumbar: 31%
Low Lumbar:38% by 15 yo,95% by 15-31 yo
Sacral: 100%

Question 23

What is the employment rate among those with spina bifida?

Answer 23

25-50%

Question 24

What is Gower’s sign?

Answer 24

Inability to rise from sitting position on the floor, normally due to proximal (pelvic girdle) muscle weakness

Question 25

What type of walking is seen with quadriceps weakness?

Answer 25

Walking on forefoot, which maximizes the extension moment of the knee

Question 26

What is the cause of Duchenne muscular dystrophy (gene location, protein)?

Answer 26

ABN Xp21 gene loci and plasma membrane protein dystrophin deficiency

Question 27

What is seen on muscle biopsy in Duchenne muscular dystrophy?

Answer 27

Degenerating fibers are often observed in clusters, with necrotic fibers surrounded by macrophages and lymphocytes

Question 28

What is the order of muscle involvement in Duchenne muscular dystrophy?

Answer 28

Neck flexors
Pelvic girdle
Shoulder
Ankle dorsiflexors
Plantar flexors
Evertors>invertors
Knee ext>flexors
Hip ext>flexors
Hip abd>add

Question 29

What is deficient in Emery-Dreifuss muscular dystrophy?

Answer 29

Emerin muscle protein

Question 30

What is the clinical hallmark of Emery-Dreifuss muscular dystrophy?

Answer 30

Early presence of contractures of the elbow flexors with limitation of full elbow extension

Question 31

What is Thomsen’s disease (Little Hercules)?

Answer 31

Myotonia congenita

Question 32

What is Schwartz-Jampel syndrome?

Answer 32

AR d/o
Hypotonia, dwarfism, diffuse bone disease, narrow palpebral fissures and blepharospasm, micrognathia, and flattened facies

Question 33

What is seen on NCS of Juvenile myasthenia?

Answer 33

Fatigability of muscle (surface electrodes) after stimulation of peripheral nerve (surface electrodes) at 4 or 10 Hz

Question 34

What are causes of AIDP or GBS?

Answer 34

Mycoplasma, cytomegalovirus, Epstein–Barr (EBV) virus, Campylobacter jejuni, and various vaccinations

Question 35

What is the prognosis of SMA Type III?

Answer 35

Good long-term survival, depending on respiratory function

Question 36

What is the cause of Friedreich’s ataxia (gene location)?

Answer 36

AR on chromosome 9q21

Question 37

What is the abnormal protein in Friedreich’s ataxia?

Answer 37

Mitochondrial protein called frataxin

Question 38

What is the clinical presentation of Friedreich’s ataxia?

Answer 38

Gait ataxia, weakness/muscle atrophy, dysarthria, gradual loss of proprioception or vibratory sense, absent DTRs, fatigue, nystagmus, and scoliosis

Question 39

What is the #1 cause of mortality in childhood NMD?

Answer 39

Pulmonary complications