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Clinical Neuro Exam 3 > Neurology: Peds I & II > Flashcards

Neurology: Peds I & II Flashcards

0
Q

What is the APGAR score?

A 
Appearance
Pulse
Grimace
Activity
Respirations

Taken at 1 minute and 5 minutes after delivery to generally assess baby’s health

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1
Q

When taking a history on a pediatric patient in neurology, what is an important component that must be obtained in addition to the general history?

A

Birth History

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2
Q

What is the Gower Sign?

A

Characteristic method of rising from a seated to a standing position. Indicative of lower extremity weakness and mainly associated with muscular dystrophies.

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3
Q

What type of muscle tone is predominant in infants?

A

Flexor tone

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4
Q

What can a frog leg position indicate in infants?

A

Hypotonia

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5
Q 
What are the developmental milestones for:
2 months
4 months
5 months
6 months
12 months
A

2: social smile, recognizes parents
4: rolls front to back
5: rolls back to front
6: sits unsupported; likes crapping in diaper; recognizes strangers
12: walks alone, uses 2 words other than mama/dada

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6
Q

What can a lack of habituation (diminished response to continuous stimuli) or lack of consolability indicate in infants?

A

Can indicate higher cortical dysfunction

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7
Q

What is considered a premature birth?

A

<25 weeks is extreme prematurity)

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8
Q

What is neonatal encephalopathy?

A

General term meaning a CNS dysfunction in the newborn period.

(asphyxia, hypoxia, perinatal stroke, hemorrhage, infection, maternal toxins etc.)

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9
Q

What is the only neuroprotective therapy for Neonatal Encephalopathy?

A

Therapeutic Hypothermia

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10
Q

What is the major cause of Perinatal asphyxia?

A

Umbilical cord problems during delivery

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11
Q

What is the best indicator for the site of Neonatal Intracranial Hemorrhage and which sites are most common?

A

Gestational Age is best indicator:
full term or large baby - subdural hematoma
full term - subarachnoid hemorrhage
<32 weeks - parenchymal or intraventricular

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12
Q

What are the 4 classifications of an Intraventricular Hemorrhage (IVH)?

A

Type I: confined to the matrix (source of neurons and glial cells during development)

Type II: extends to lateral ventricle

Type III: enlarges ventricles

Type IV: in brain parenchyma

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13
Q

What are symptoms of each type of IVH?

A
  1. asymptomatic
  2. irritability, lethargy
    3&4. apnea, bradycardia, opisthotonus, etc.
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14
Q

What is the best way to diagnose IVH?

A

Ultrasound

-routinely used in premature infants

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15
Q

What are the major characteristics of neonatal seizures?

A

Unifocal or multifocal jerking, rhythmic eye deviation, tonic posturing
(difficult to localize even though they are not generalized, which is due to the immature neurons not firing in coordination yet)

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16
Q

What is the treatment for Neonatal Seizures?

A

Often they have some underlying cause which, if treated, can be resolved.

Drugs: phenobarbital, phenytoin, pyridoxine

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17
Q

What are the 3 major conditions that can lead to Floppy Infant Syndrome?

A
  1. Hypoxia-ischemia of brain or spinal cord
  2. Spinal Muscular Atrophy
  3. Dysgenetic Syndromes
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18
Q

What are the two types of spinal muscular atrophy and what gene is mutated that can lead to these disorders?

A
  1. Werdnig Hoffman Disease
  2. Kugelberg Welander Disease

Survivor motor neuron gene mutation

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19
Q

Name and describe the pathology associated with Cerebral palsy caused by premature birth.

A

Periventricular Leukomalacia

  • necrosis of white matter near the lateral ventricles of the brain
  • individuals often develop motor and developmental delays often leading to cerebral palsy
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20
Q

What treatment can reduce chances of cerebral palsy in women with preterm labor?

A

Magnesium Sulfate

21
Q

What is the definition of Sudden Infant Death Syndrome?

A

Sudden death of an infant younger than 1 year, which remains unexplained after a thorough investigation.

22
Q

What has been the major cause in the reduction of cases of SIDS?

A

The “Back” to sleep program which encourages infants to sleep supine rather than prone.

23
Q

What is Aicardi Syndrome?

A

Agenesis of the corpus callosum:

  • results in mental retardation, infantile spasms, chorioretinopathy
  • more common in females
24
Q

What are craniosynostoses?

Which condition is most common?

A

Premature fusions of the sutures in the skull of children.

Scaphocephaly is most common: fusion of sagittal suture early

25
Q

What is the most severe craniosynostosis?

A

Kleeblattschadel (cloverleaf): multiple sutures fuse leading to hydrocephalus and mental retardation

26
Q

What is the leading hypothesis for the pathogenesis of ADHD?

A

Imbalance in catecholamine metabolism due to genetics, environment, or prenatal exposure to tobacco.

27
Q

What are some requirements for the diagnosis of ADHD?

A
  • present in more than one setting (ex. school and home)
  • persist for 6 months and be detected before age 7
  • not be caused by other mental disorders
28
Q

Name two medications used to treat ADHD and the mechanism of action of each.

A

Both are NE re-uptake inhibitors

  1. Methylphenidate (Ritalin)
  2. Atomoxetine (if there is substance abuse in the history)
29
Q

What 3 domains are impaired in children with autism?

A
  1. Socialization
  2. Communication
  3. Behavior
30
Q

What are two major signs that might cause concern for parents indicating autism?

A
  1. Infrequent cry

2. child doesn’t seek to be held

31
Q

What is Asperger Syndrome?

A

Similar to autism, though patients have better verbal expression and higher levels of cognitive function.

32
Q

What is Pervasive Developmental Disorder NOS?

A

NOS = not otherwise specified

just refers to a group of disorders including autism but individuals with non-specified characteristics of the disorders in this group are just considered NOS.

33
Q

What is the pathogenesis of Rett Syndrome?

A

Mutation in MECP 2 gene on X chromosome.

Abnormal methylcytosine binding protein leads to deceleration of head growth (opposite of autism w/ head growth), hand movements and dementia

34
Q

What IQ is considered a mild intellectual disability (MR)?

A

50-70.

this is the majority of people with this condition

35
Q

What two components are crucial to assess when examining a child suspected of having an ID?

A

Vision and hearing

36
Q

What is the genetic cause and differentiating characteristic of Fragile X syndrome?

A

Trinucleotide expansion

Macroorchidism in males

37
Q

On which chromosomes are the two NF genes that can lead to neurofibromatosis if mutated?

A

NF-1: chromosome 17

NF-2: chromosome 22

38
Q

What condition is associated with Neurofibromatosis type 2?

A

Bilateral Acoustic neuromas

39
Q

What is Sturge Weber syndrome?

A

A trigeminocranial angiomatosis with cerebral calcification.

  • facial nicholas flammel (nevus flammeus)
  • pts. experience seizures, mental retardation, contralateral hemiparesis and glaucoma
40
Q

What is the triad associated with Tuberous Sclerosis?

A
  1. ID
  2. Epilepsy
  3. Skin Lesions
    (hamartin and tuberin gene mutation)
41
Q

Enzyme deficient in Phenylketonuria.

A

Phenylalanine hydroxylase

42
Q

Treatment for PKU.

A

Dietary restriction of Phe.

43
Q

Deficiency and treatment in Maple Syrup Urine Disease.

A

Can’t metabolize branched chain amino acids (Val, Leu, Ile)

Treat with restriction of BCAA in diet

44
Q

Enzyme deficient in Homocystinuria and two conditions associated with this disease.

A

Def. in cystathionine synthase

Risk of:

  1. ectopia lentis (displaced lens)
  2. Stroke due to increased risk of multiple thrombotic events
45
Q

Enzyme deficient in Lesch-Nyhan Syndrome.

A

Hypoxanthine-guanine phosphoribosyltransferase (HPRT)

46
Q

Clinical presentation of Lesch-Nyhan

A

Hyperuricemia, mental retardation, spasticity, self-mutilation, eventual death by chronic renal failure

47
Q

Enzyme deficient and major clinical characteristic of Tay Sachs disease.

A

Hexosaminidase A def.

Cherry Red Macula

48
Q

Enzyme deficient and clinical manifestation of Neimann-Pick Disease

A

Sphingomyelinase def.

Hepatosplenomegaly, developmental regression, dementia, hypotonia

49
Q

Mineral that accumulates in Wilson Disease

A

Copper

50
Q

4 major clinical features of Wilson Disease.

A
  1. Liver cirrhosis, basal nuclei degeneration
  2. Jaundice
  3. Wing-beating tremor
  4. Kayser-Fleischer Ring in eye
51
Q

Treatment for Wilson Disease.

A
  • remove copper and prevent accumulation
  • oral zinc: induces formation of intestinal metallothionein which binds copper and prevents its absorption into the blood

Clinical Neuro Exam 3 (15 decks)

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