Ch 10 - Peds: Spina Bifida and NMD Flashcards

1
Q

Where are the highest and lowest incidence of Spina bifida?

A

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

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2
Q

What is spina bifida occulta?

A

Failure of fusion of the posterior elements of the vertebrae

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3
Q

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

A

Lumbosacral or sacral region

MC L5 and S1 levels

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4
Q

What is menigocele?

A

Protruding sac contains meninges and spinal fluid

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5
Q

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

A

75% lumbar and lumbosacral segments

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6
Q

What is myelomeningogele?

A

Protruding sac contains meninges, spinal cord, and spinal fluid

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7
Q

What is myelocele?

A

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

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8
Q

What is myelomeningogele associated with?

A

Arnold-Chiari malformation Complicated by hydrocephalus in over 90% of the cases

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9
Q

What % of children with hydrocephalus requiring shunting?

A

> 80% require VP shunting

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10
Q

What are typical signs of a tethered cord?

A
Weakness
Scoliosis
Pain
Ortho deformity
Urologic dysfunction
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11
Q

What are presenting symptoms of Syringomyelia?

A

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

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12
Q

What is best to evaluate for Syringomyelia?

A

MRI

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13
Q

What is the MCC of death in myelodysplasia?

A

Central resp dysfunction

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14
Q

What is common with Proteus urinary tract infections?

A

Calcinosis

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15
Q

What is associated with greater chance of bowel continence?

A

Presence of bulbocavernosus or anocavernosus reflex

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16
Q

Describe Intellectual function in myelodysplasia.

A

The higher the lesion, the lower the IQ score

17
Q

When is Independent self-catheterization may be achieved?

18
Q

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

A

Latex allergy

19
Q

Describe ambulation in thoracic myelodyplasia.

A

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

20
Q

Describe ambulation in lower thoracic and lumbar myelodyplasia.

A

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

21
Q

Describe ambulation in lumbar myelodyplasia.

A

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

22
Q

Describe functional community ambulation by level.

A

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

23
Q

What is the employment rate among those with spina bifida?

24
Q

What is Gower’s sign?

A

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

25
What type of walking is seen with quadriceps weakness?
Walking on forefoot, which maximizes the extension moment of the knee
26
What is the cause of Duchenne muscular dystrophy?
ABN Xp21 gene loci and plasma membrane protein dystrophin deficiency
27
What is seen on muscle biopsy in Duchenne muscular dystrophy?
Degenerating fibers are often observed in clusters, with necrotic fibers surrounded by macrophages and lymphocytes
28
What is the order of muscle involvement in Duchenne muscular dystrophy?
``` Neck flexors Pelvic girdle Shoulder Ankle dorsiflexors Plantar flexors Evertors>invertors Knee ext>flexors Hip ext>flexors Hip abd>add ```
29
What is deficient in Emery-Dreifuss muscular dystrophy?
Emerin muscle protein
30
What is the clinical hallmark of Emery-Dreifuss muscular dystrophy?
Early presence of contractures of the elbow flexors with limitation of full elbow extension
31
What is Thomsen's disease (Little Hercules)?
Myotonia congenita
32
What is Schwartz-Jampel syndrome?
AR d/o Hypotonia, dwarfism, diffuse bone disease, narrow palpebral fissures and blepharospasm, micrognathia, and flattened facies
33
What is seen on NCS of Juvenile myasthenia?
Fatigability of muscle (surface electrodes) after stimulation of peripheral nerve (surface electrodes) at 4 or 10 Hz
34
What are causes of AIDP or GBS?
Mycoplasma, cytomegalovirus, Epstein–Barr (EBV) virus, Campylobacter jejuni, and various vaccinations
35
What is the prognosis of SMA Type III?
Good long-term survival, depending on respiratory function
36
What is the cause of Friedreich's ataxia?
AR on chromosome 9q21
37
What is the abnormal protein in Friedreich's ataxia?
Mitochondrial protein called frataxin
38
What is the clinical presentation of Friedreich's ataxia?
Gait ataxia, weakness/muscle atrophy, dysarthria, gradual loss of proprioception or vibratory sense, absent DTRs, fatigue, nystagmus, and scoliosis
39
What is the #1 cause of mortality in childhood NMD?
Pulmonary complications