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In order Cuccurullo > Ch 10 - Peds: Spina Bifida and NMD > Flashcards

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 myelomeningocele?

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 myelomeningocele 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 in spina bifida?

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

Age when 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 (percentages)

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
Q

What type of walking is seen with quadriceps weakness?

A

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

26
Q

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

A

ABN Xp21 gene loci and plasma membrane protein dystrophin deficiency

27
Q

What is seen on muscle biopsy in Duchenne muscular dystrophy?

A

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

28
Q

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

A 
Neck flexors
Pelvic girdle
Shoulder
Ankle dorsiflexors
Plantar flexors
Evertors>invertors
Knee ext>flexors
Hip ext>flexors
Hip abd>add
29
Q

What is deficient in Emery-Dreifuss muscular dystrophy?

A

Emerin muscle protein

30
Q

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

A

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

31
Q

What is Thomsen’s disease (Little Hercules)?

A

Myotonia congenita

32
Q

What is Schwartz-Jampel syndrome?

A

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

33
Q

What is seen on NCS of Juvenile myasthenia?

A

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

34
Q

What are causes of AIDP or GBS?

A

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

35
Q

What is the prognosis of SMA Type III?

A

Good long-term survival, depending on respiratory function

36
Q

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

A

AR on chromosome 9q21

37
Q

What is the abnormal protein in Friedreich’s ataxia?

A

Mitochondrial protein called frataxin

38
Q

What is the clinical presentation of Friedreich’s ataxia?

A

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

39
Q

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

A

Pulmonary complications

In order Cuccurullo (91 decks)

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