Neurology Flashcards
1
Q
When does primary/secondary neurulation occur?
Dorsal induction
A
Primary: 3-4 weeks
Secondary: 4-7 weeks
2
Q
What anomalies are associated with abnormal primary neurulation?
A
Anencephaly Myeloschisis Encephalocele Myelomeningocele Arnold-Chiari malformation
3
Q
What anomalies are associated with abnormal secondary neurulation?
A
Spinal cord abnormalities Lower sacral segments Spinal cysts Tethered cord Lipoma Teratoma Myelocystocele Meningocele, Lipomeningocele
4
Q
When does prosencephalic development occur?
Ventral induction
A
2-3 months
5
Q
What anomalies are associated with prosencephalic development?
A
Formation: Aprosencephaly
Cleavage: Holoprosencephaly
Midline:
Agenesis of the corpus callosum
Agenesis of the septum pellucidum
Septo-optic dysplasia
6
Q
When does neural and glial proliferation occur?
A
3-4 months
7
Q
What anomalies occur during neural and glial proliferation?
A
Micrencephaly
Macrencephaly
8
Q
When does neuronal migration occur?
A
3-5 months
9
Q
What anomalies happen during neuronal migration?
A
Schizencephaly (no cortex)
Lissencephaly (smooth brain)
Pachygyria (broad gyri)
Polymicrogyria
10
Q
When does neuronal organization occur?
A
Axonal proliferation: 3 months-birth
Dendritic and synapse: 6 months to 1 year
Synaptic rearrangements: birth to years
11
Q
What disorders are association with abnormal neuronal organization?
A
Mental deficiency Trisomy 21 Fragile X syndrome Autism Angelman syndrome Prematurity
12
Q
When does myelination occur?
A
Birth to years
Corticospinal tract: 38 weeks to 2 years
13
Q
Which neuronal pathway is last to myelinate? When does it complete?
A
Association bundle connecting prefrontal cortex to temporal and parietal lobes
32 years
14
Q
What disorders are associated with abnormal myelination?
A
Cerebral white matter hypoplasia
Prematurity
Malnutrition
15
Q
What causes anencephaly and when does it occur?
A
Abnormal primary neurulation
First 26 days of gestation
16
Q
What is the incidence and epidemiology of anencephaly?
A
0.2-3 in 1000 births
Female
Hispanic women
17
Q
What factors increase the risk of anencephaly?
A
Maternal hyperthermia Maternal deficiencies of - Folate - Copper - Zinc Previous anencephaly (2-5% recurrence)
18
Q
What anomalies are associated with anencephaly?
A
13-33%:
- CHD
- CDH
- Renal malformation
- Hypoplastic adrenal glands
- Omphalocele
- Trisomy 13
- Trisomy 18
19
Q
Anencephaly is identified clinically through findings of
A
Elevated AFP Fetal ultrasound at 14 to 15 weeks Karyotype Polyhramnios 65% with spontaneous abortion
20
Q
A primary neurulation defect that result in failed closure the rostral neural tube with herniation of meminges and brain is
A
Encephalocele
21
Q
The percentage of encephaloceles that are associated with other anomalies
A
40%
22
Q
70% of encephaloceles are located in the _____ region
A
Occipital
23
Q
In encephalocele, AFP is usually
A
Normal
24
Q
Prognosis of encephalocele is determined by
A
Amount of brain tissue within the sac
Presence of hydrocephalus, microcephaly, other anomalies
A frontal encephalocele has a better prognosis
25
Abnormal neurulation resulting in failure of posterior neural tube closure with open defects not covered by the skin is a
Myelomeningocele
26
In the United States myelomeningoceles occur most in the
East and south regions
27
Folic acid supplementation decreases the risk of neural tube defects
60 to 70%
28
The difference between a meningocele and a myelomeningocele is
Meningocele only meninges herniate through bony abnormality. Myelomeningocele both spinal cord and meninges herniate.
29
Myelomeningocele lesions below the level of ______ impact ambulation abilities
L3-4
30
In myelomeningocele reflexes are absent if the lesion is at level _____ or higher
L2
31
How often does hydrocephalus occur in the setting of myelomeningocele?
80%
32
A primary neurulation defect that causes displacement of the cerebellum tonsils through the foramen magnesium is
Arnold chiari malformation
33
Three types of Arnold Chiari malformation are marked by
Type 1- caudal displacement of tonsils
Type 2- elongation and displacement, hydrocephalus
Type 3- cerebellum and lower brainstem displaced to sac
34
Absence of telencephalon and diencephalon due to abnormal development in the prosencephalic stage is
Aprosencephaly
35
Clinical signs of Aprosencephaly can include
Intact skull and hair but small brain volume
Cyclopia or absence of eyes
Genitalia and limb anomalies
36
Abnormal development in the prosencephalic stage causing primary defect in cleavage is
Holoprosencephaly
37
Recurrence risk of holoprosencephaly is
6%
38
____% of holoprosencephaly is associated with a chromosomal abnormality.
40%
39
A maternal condition that increases the risk of holoprosencephaly
Maternal diabetes
40
Abnormal prosencephalic development leading to a single cerebral structure with a large central ventricle, absent corpus collosum, optic nerve hypoplasia, and dysmorphic features is
Holoprosencephaly
41
The outcome of holoprosencephaly is
Extremely poor with high rate of fetal demise
42
Extracranial abnormalities are present in holoprosencephaly _____%
50%
Myelomeningocele
Renal malformations
CHD
Polydactyly
43
Consequences of Neuro malfunctions in holoprosencephaly are
Apnea
Seizures
Hypothalamic dysfunction
DI/SIADH
44
A defect in midline development during the prosencephalic stage is
Agenesis of the corpus collosum
45
Associated abnormalities with agenesis of the corpus collosum
```
Dandy Walker
Holoprosencephaly
Dysmorphic facies
CHD
Nonketotic hyperglycemia
Pyruvate dehydrogenase deficiency
Tri 8,13,18
```
46
Diagnostic confirmation of agenesis of the corpus collodum is with
MRI
47
Developmental outcome in agenesis of the corpus collosum is
Normal if no other anomalies
Increased rush if other neuro malformations
Increased risk of seizures
48
Medial, frontal and parietal lobes vascular supply is from the
Anterior cerebral artery
49
Lateral hemispheres receive vascular supply from
Middle cerebral artery
50
Midbrain, occipital lobes, and inferior temporal lobes receive vascular supply from
Posterior cerebral artery
51
The internal carotid artery supplies the
Anterior and middle cerebral arteries
52
The basilar artery supplies the
Posterior cerebral artery
53
Cerebral perfusion pressure is calculated:
MAP - ICP
54
Hypoglycemia and seizures can cause _______ cerebral blood flow
Increased
55
Anemia causes _____ cerebral blood flow
Decreased
56
Head circumference growth is approximately
1cm/week after 3rd week of life
57
Chromosomal abnormalities associated with microcephaly are
```
Tri 13,18,21
Deletion 13q
CHARGE
Meckel Gruber
Smith Lemli Opitz
Infection
Maternal substance use
Radiation
(Maternal) phenylketonuria
```
58
50% of macrocephaly is due to
Familial- benign familial macrocephaly (50%, male> female)
59
Chromosomal abnormalities associated with macrocephaly are
```
Beckwith-Wiedeman
Neurofibromatosis
Soto syndrome
Fragile x
Achondroplasia
```
60
Craniosynostosis usually presents by
6 months
61
Syndromes known to be associated with craniosynostosis are
Crouzon
| Apert
62
Metabolic causes of craniosynostosis
Hypophosphatemia
Rickets
Hypercalcemia
63
Goals of surgical intervention for craniosynostosis are
Prevent ICP
Allow brain growth
Prevent visual/auditory compromise
Skull/facial appearance
64
The most common form of craniosynostosis is
Scaphocephaly or dolichocephaly
| 56%
65
The least common type of craniosynostosis is
Occipital plagiocephaly (2%)
66
Sagittal suture craniosynostosis causes
Elongated skull
Scaphocephaly/dolichocephaly
Normal brain growth
Males>>females
67
The most common craniosynostosis in Crouzon or Apert syndromes
Frontal plagiocephaly
Unilateral coronal suture closure
Females >> males
High rate of neurodevelopment impacts
68
Craniosynostosis associated with carpenter syndrome is
Brachycephaly (13%)
| Bilateral coronal suture closure
69
Craniosynostosis that cause hypotelorism is
Trigonocephaly (4%)
| Metopic suture closure
70
The highest risk for ICP and mental deficiency from craniosynostosis is with
Multiple suture involvement
| Surgery indicated as early as possible
71
Normal closure of the anterior fontanelle occurs by
2 years
72
An enlarged anterior fontanelle can indicate
```
Hydrocephalus
CNS infection
Hypothyroidism
Tri 13, 18, 21
Zellweger syndrome
hypophosphatemia
```
73
The cranial nerve responsible for smell
One
74
The cranial nerve responsible for functions of the eye and movement are
2, 3, 4, 6
75
The cranial nerves responsible for facial sensation and movement
5, 7
76
Cranial nerve responsible for hearing
8
77
Sucking, swallowing, and tongue movement are responsibilities of cranial nerves:
5, 7, 9, 10, 12
78
Cranial nerves responsible for taste are
7, 9
79
Mobius syndrome is
Bilateral facial paresis due to hypoplasia or absence of cranial nerve nuclei
80
Pathologic hypertonia is due to
Corticospinal tract or extrapyramidal systems injury
```
HIE
Meningeal inflammation
Hemorrhage
Bilateral cerebral injury
Basal ganglia injury
```
81
An abnormal Dubowitz exam indicates
Neonatal hypotonia
Infant slips through hand when held under armpits
82
Syndromes commonly with hypotonia
Tri 21
Prader-Willi
Angelman
83
Metabolic disorders with hypotonia
Urea cycle defects
Isovaleric acidemia
Hypothyroidism
Hypermagnesemia
84
Contralateral hemiparesis, eye deviation, and gradient weakness in upper or lower extremities is suggestive of
Focal cerebral injury
Term: upper>>> lower weakness
Preterm: lower >>>> upper weakness
85
Weakness in the proximal limbs, upper greater than lower is from
Parasagittal cerebral injury
86
Symmetric weakness in the lower greater than the upper extremity is from
Periventricular bilateral cerebral injury
87
Flaccid weakness in all extremities that evolves to spasticity is due to
Spinal cord injury
88
Flaccid weakness in all extremities associated with fasciculations is
Lower motor neuron injury
89
Focal weakness in specific patterns is due to
Nerve root injury
90
Generalized weakness is due to
Peripheral nerve injury
91
Generalized weakness with hypotonia is due to
Neuromuscular junction injury
92
Generalized weakness with hypotonia that may include the face and affects proximal muscles more than distal indicates
An injury at the level of the affected muscle
93
DTRs that appear normal at birth but become progressively more brisk are due to
Upper motor neuron lesion
94
DTRs that are absent with an asymmetric plantar response is due to
Lower motor neuron lesion
95
Unaffected DTRs with significant muscle weakness is due to
Neuromuscular junction injury
96
Decreased muscle strength with intact DTRs is due to
Muscle injury
97
Clonus is abnormal if present past ____ age
3 months
98
Moro reflex should disappear by ____ age
6 months
99
Asymmetric Morro reflex suggests
Peripheral nerve injury
100
Palmar reflex should disappear by _____
2-4 months
101
Persistent palmar grasp suggests
Athetoid cerebral palsy
102
Tonic neck reflex should disappear by ____
6 months
103
Persistent tonic neck reflex suggests
Focal cerebral abnormalities
104
Rooting reflex should disappear by
4 months
105
Crossed extensor reflex should disappear by
2 months
106
CSF is produced by the _______ at a rate of _____
Choroid plexus
| 0.4ml/min
107
CSF flows from the choroid plexus to the ______, ______, ______, ________, _______ , _________
MSF
LMS
```
foramen of MONRO
cerebral aqueduct of SYLVIUS
FOURTH ventricle
lateral foramen of LUSCHKA and MAGENDIE
SUBARACHNOID space
```
108
The structure responsible for producing and regulating pressure of CSF
Choroid plexus
109
A neuroepithelial fold containing CSF and debris is a
Choroid plexus cyst
110
Most choroid plexus cysts appear at _____ and disappear by _____
11 weeks
26 weeks
111
A small number of choroid plexus cyst are associated with
Trisomy 18
112
CSF is recycled every
5-7 hours
113
A major electrolyte component of CSF is
Sodium
114
CSF concerning for IVH is
Xanthochromic with increased RBC and protein
115
A discontinuous EEG is find in infants age
27-30 weeks
116
EEG synchrony begins at ____ weeks during ______
31 sleep
117
EEG responds to external stimuli beginning at ____ weeks
34 weeks
118
Delta brushes on EEG are first seen at ____ weeks and disappear at _____
29 weeks
Term
119
Theta bursts on EEG are first seen at ____ weeks and disappear at _____
29 weeks
35 weeks
120
Abnormal progression of EEG pattern by more than ____ suggests
3 weeks
| Underlying disorder
121
Neuro insults, HIE, meningitis, encephalitis and metabolic disorders have ______ on EEG.
Background depression
122
A lack of response to external stimuli appears as ______ on EEG
Burst suppression
Poor prognosis
123
Cerebral cortical death is marked by ________ on EEG
Electrocerebral silence >72h
124
________ are a typical finding on EEG in preterm infants. In term infants it came indicate ________
Periodic discharges
| Middle cerebral artery infarction
125
A prolonged high voltage on EEG is shown as ______
Multifocal sharp waves
| Multiple etiologies
126
PVL shows up on EEG as
Central positive sharp waves
127
Hypsarrhythmia is characteristic of _____ and shows up after ______
Infantile myoclonic spasms
| 2 months
128
Cranial US is least useful for lesions located ______
Posterior fossa
129
Cranial CT is most useful for
```
Intracranial calcifications >>>MRI
Parenchymal processes
Fluid collections
Posterior fossa lesions
Avoiding sedation (vs MRI)
```
130
Brain MRI is better than CT for
```
Avoiding radiation
Migration and myelination disorders
AV malformations
Ischemia
PVL
Spinal cord
```
131
Most common cause of obstructive hydrocephalus is
IVH (post hemorrhagic)
132
Aqueductal stenosis causes hydrocephalus by
Obstruction of the aqueduct causing 3rd and lateral ventricle dilation
1/3 of parents with hydrocephalus
133
Causes of aqueductal stenosis are
Viral (mumps, rubella, parainfluenza)
Arnold Chiari
X-linked: adducted thumbs, agenesis of the corpus collosum, mental deficiency
AR with VACTERL
134
A cystic dilation of the 4th ventricle, cerebellar vermis hypoplasia/aplasia with hydrocephalus is most likely
Dandy Walker malformation
135
Hydrocephalus is due to Dandy Walker ____%
5-10%
136
Typical management of Dandy Walker includes a
VP shunt
137
Dandy Walker prognosis is related to
Age at onset (earlier is worse)
| Severity of malformation
138
Congenital hydrocephalus can be caused by
DW - T^2 I^2 G^2 - M:
```
Dandy Walker
Teratogens - Tumors
Infection- IVH
Genetics- vein of Galen
Maternal malnutrition
```
139
Causes of communicating hydrocephalus
AA- CEGI- LL
Arnold chiari - Acquired hydrocephalus
Congenital absence of arachnoid granulation
GBS ventriculitis
IVH
Leptomeningeal inflammation -Lissencephaly
140
What two forms of neuromuscular impairment are required for a diagnosis of HIE?
Spastic quadriplegia
OR
Dyskinetic CP
141
Following hypoxia there is an increase in
```
Cerebral blood flow
Glucose to the brain
Glycogenolysis
Glycolysis
Lactate, hydrogen ions
Excitatory amino acids, calcium, free radicals
```
142
Hypoxia decreases
Oxidative phosphorylation
Brain glucose
Phosphocreatine
ATP
143
Stage 1 Sarnat HIE can include
Hyperalert
Mild distal flexion
Weak suck reflex
Tachycardia
144
Seizures are most likely part of stage ____ Sarnat HIE
Stage 2
145
Lethargy, weak suck and Moro reflexes and mild hypotonia are consistent with stage _____ Sarnat HIE
Stage 2
146
The diving reflex shifts ____
Blood flow preferentially to brain, heart, and adrenal glands
147
HIE causes seizures that are _________ in about ____% of patients
Subtle, focal, multifocal or myoclonic
50%
148
The time of hyperventilation in HIE is
Not recommended; may be detrimental
149
In moderate and severe HIE, ____% and ____% of parents will have significant deficits
20% -higher risk for symptoms > 5-7d
100%
150
The most common cerebral injury after HIE is
Selective neuronal necrosis
151
Selective neuronal necrosis occurs ____ after injury due to ____
24-36h
Excitatory amino acids
152
The area of the brain most likely impacted by selective neuronal necrosis is
Diffuse
Deep nuclear structures of the cerebral cortex
Deep nuclear structures (basal ganglia, thalamus, globus pallidus)
153
In term infants with systemic hypotension, hypoxemia, acidosis, the likely injury is
Parasagittal cerebral injury
154
In parasagittal cerebral injury, location of necrosis is marked by
Border areas of anterior, middle and posterior cerebral arteries
Typically bilateral and symmetrical
155
Clinically parasagittal cerebral injury presents with
Proximal limbs weakness, upper>> lower
| Shoulder girdle weakness
156
In parasagittal cerebral injury, deficits of the auditory, visual, spatial and language abilities suggests vascular involvement of the
Posterior cerebral artery
157
Ischemia that is unilateral, left and most commonly involving the MCA is called
Focal or multifocal ischemia
158
The etiology of focal or multifocal ischemia is most often
Unknown (50%)
Perinatal asphyxia (30%)
```
Other etiologies related to increased clotting risk:
Polycythemia
Protein C or S
Antithrombin 3 deficiency
Anti phospholipid antibodies
```
159
Papillary response and oculomotor response in focal or multifocal ischemia are
Normal
160
Periventricular hemorrhagic infarction is associated with __________ in 80% of cases
Large asymmetric IVH
161
IVH leads to periventricular hemorrhagic infarction sure to
Obstructed blood flow in terminal vein from IVH causing venous infarction to medullary veins
162
Most periventricular hemorrhagic infarction is located
Dorsal and lateral to lateral ventricle external angle
163
Periventricular hemorrhagic infarction usually leads to
Spastic hemiparesis or asymmetric quadriparesis
| Upper== lower extremities
164
In contrast to periventricular hemorrhagic infarction, periventricular leukomalacia usually affects
Lower extremities more than upper extremities
| Spastic diplegia
165
Focal injury and necrosis of the periventricular white matter causes
PVL
166
Anatomic factors that worsen risk for PVL in preterm infants are
Poor cerebral autoregulation
Actively differentiating or myelinating glial cells
Insults that lead to oligodendroglial cell death and myelin deficiency
167
Best imaging and timing for PVL is
US at 1 month of age or more
168
Outcome of PVL can include
Spastic diplegia
| Cognitive and visual deficits
169
Hemorrhage in term infants caused by trauma and testing of veins and venous sinuses is
Subdural hemorrhage
170
Location of subdural hemorrhage can be
Infratentorial
Or
Over convexities
171
Which location of subdural hemorrhage had a worsened severity and outcome?
Infratentorial
172
Both infratentorial and convexity subdural hemorrhage can have an onset of
Delayed from injury several days (infratentorial) to months (over convexity)
173
Convexity subdural may initially present with
Increasing head circumference
174
Likelihood of hydrocephalus requiring VP shunt in subdural hemorrhage is
10-15%
175
The most common type of intracranial bleed in infants is
Subarachnoid
176
An uncommon type of intracranial bleed in infants causing brainstem compression is
Cerebellar hemorrhage
177
A common outcome of cerebellar hemorrhage in infants is
Long term neurodevelopment deficits
178
Diagnosis of cerebellar hemorrhage is best by
CT
179
In VLBW infants, incidence of IVH ranges from
8% (1250-1500g) to 32% (<750g)
180
Location of IVH are typically in the
Germinal matrix and subependymal germinal matrix
181
___% of IVH occur in the first 72h of life
90%
182
IVH can lead to
Posthemorrhagic hydrocephalus
| PVL
183
IVH occurs in ___% of healthy term newborn's
2%
184
In term infants, IVH results in ____% normal neuro outcome, ___% severe deficits, _____ requiring shunt, and ___% mortality
55% normal
40% severe deficits
50% shunt
5% mortality
185
From most superficial to deep, rank subgaleal, cephalohematoma, caput, and extradural hemorrhage
```
Captut
Subgaleal
Cephalohematoma
Extradural
Subdural
```
186
Subgaleal hemorrhage can extravasate ___% of an infant's blood volume
40%
187
A rare bleed associated with birth trauma in the superiosteal space/inner surface of the skull caused by injury to the middle cerebral artery or veins is
Extradural hemorrhage
188
Extradural hemorrhage management often includes
Evacuation to alleviate ICP
189
Extradural hemorrhage can be associated with
Cephalohematoma
| Linear skull fracture
190
Brachial plexus injuries are most likely to involve ______ nerve roots on the _____ side
Upper
| Right (90% unilateral)
191
Recovery of brachial plexus injury is recovery of ____% by 4 months and ____% by 1 year.
88%
| 92%
192
Full recovery of brachial plexus injury occurs with improvement at _______ and recovery by ______
2 weeks
| 6 months
193
After brachial plexus injury, deficits remaining at ______ do not resolve
15 months
194
Nerve roots affected in Erb-Duchenne palsy:
C5-7
195
Nerve roots affected in Klumpke's palsy:
C8-T1
196
In brachial plexus injury, ______ palsy is most common
Erb's (90%)
197
Both Erb's palsy and Klumpke's palsy have an absent ________ reflex.
Biceps reflex
198
Absent biceps reflex and shoulder moro, intact palmar grasp with waiters tip positioning is
Erb's palsy
199
Absent biceps, moro, and grasp reflex with weak hand flexors is
Klumpke's palsy
200
Miosis, ptosis, anhidrosis, and decreased iris pigmentation is consistent with injury to nerve root:
T1 (Horner's syndrome)
201
Flaccid weakness of the lower>upper extremities, atonic anal sphincter, abdominal muscle paralysis, and bladder distention results from
Spinal cord injury from traction/rotation injury during delivery
202
Most common cranial nerve injury during birth is
Facial nerve
203
Facial nerve palsy causes
```
Facial muscle weakness
Asymmetric cry
Incomplete eyelid closure
Flat nasolabial fold
Left (75%)>>>right
```
204
Expected recovery of facial nerve palsy is
1-3 weeks
205
Lower motor neuron disorders:
CANMM:
```
Congenital myopathy
Anterior horn cell
Neuromuscular junction
Muscular dystrophy
Metabolic/multi-system disease
```
206
Spinal muscle atrophy is an example of
Anterior horn cell, lower motor neuron disorders
207
Spinal muscle atrophy genetics are
Autosomal recessive
| Chromosome 5
208
Presentation of SMA is
```
Generalized hypotonia
Frog leg position
Jug handle arm position
Areflexia
Tongue fasciculations
Abdominal breathing
```
209
SMA labs
Normal CPK
Denervation, fasciculations and fibrillations on EMG
Normal nerve conduction velocity
Atrophied motor units on muscle biopsy
210
Acquired transient neonatal myasthenia gravis is a disorder of the
Neuromuscular junction
211
Neonatal myasthenia gravis occurs in _____% of infants of mother's with myasthenia gravis
10-20%
212
Recurrence risk of neonatal myasthenia gravis is
75%
213
Neonatal myasthenia gravis is caused by
Anti acetylcholine receptor antibodies
214
Hypotonia, polyhramnios, pulmonary hypoplasia, arthrogryposis, respiratory failure and feeding difficulties occur with
Anti acetylcholine receptor antibodies,
| Neonatal myasthenia gravis
215
Transient neonatal myasthenia gravis usually lasts ______ and is treated with ___________
18 days
| Anticholinesterase therapy
216
If maternal history isn't diagnostic, neonatal myasthenia gravis is diagnosed with
Normal CPK, muscle biopsy, nerve conduction velocity
EMG: progressive amplitude decline with repetitive nerve stimulation
Responsive to anti-cholinesterace treatment
217
Congenital myasthenia gravis is in two forms:
Congenital myasthenia
| Familial infantile myasthenia
218
Genetic inheritance of birth forms of congenital myasthenia gravis is
Autosomal recessive
219
Congenital myasthenia is caused by _________
Endplate acetylcholine receptor deficiency
220
Familial infantile myasthenia is caused by _______
Acetylcholine synthesis or vesicle packaging deficiency
221
Congenital myasthenia is __________ (more/less) severe than familial infantile myasthenia.
Less severe
222
Congenital myasthenia presents with
Hypotonia: ptosis, ophthalmoplegia, facial weakness, poor suck and cry
223
Familial infantile myasthenia presents with
Hypotonia, respiratory failure, apnea, severe feeding difficulties, facial weakness, ptosis
224
EMG results for transient, congenital and familial myasthenia
Show progressive weakness with prolonged stimulation
225
Congenital myotonic dystrophy is a form of muscular dystrophy inherited
Autosomal dominant
Chromosome 19
Expanding CTG repeats
Almost exclusive maternal inheritance
226
Congenital myotonic dystrophy is caused by
Abnormal protein leading to dysfunctional sodium and potassium channels
227
Polyhydramnios, prolonged labor, maternal difficulty opening eyes and releasing hang grip are consistent with
Congenital myotonic dystrophy
228
Infants with congenital myotonic dystrophy present with
```
Facial diplegia (tent-shaped mouth), poor feeding, respiratory failure, arthrogryposis, areflexia, muscle atrophy
Mental deficiency
Mortality in 40%
```
229
Congenital myotonic dystrophy diagnostics show
Normal CPK and nerve conduction velocity
EMG: myotonic changes, "dive-bomber" sound
Muscle biopsy: small, round muscle fibers, large nuclei, sparse myofibrils
230
Riley-Day, Prader-Willi, and arthrogryposis multiplex congenita are all disorders marked by
Hypotonia and muscle weakeness
231
9q31-33 defective gene that transmits an autosomal recessive hypotonia disorder in Ashkenazi Jewish families is
Riley-Day
232
Familial dysautonomia is diagnosed by
Riley-Day:
Pupil constriction with metacholine drops/pilocarpine
No flare with intradermal histamine
Genetics: 9q31-33 fever defect, AR
233
The effects of familial dysautonomia/Riley-Day syndrome are due to:
Peripheral nervous system disorder:
- Reduced number off small unmyelinated nerves for pain, temperature, taste, autonomic function mediation
- Reduced large myelinated afferent nerve fibers
234
Familial hypotonia with presentation by 1 year, absent corneal reflexes, decreased or absent DTR's, and decreased tongue papillae is consistent with
Riley -Day or familial dysautonomia
235
Deletion of 15q 11q13/maternal uniparental disomy/or maternal methylation causes a syndrome markers by hypotonia called
Prader-Willi
236
In Prader-Willi, the deleted gene material at 15q11-13 is ________ origin
Paternal--> maternal uniparental disomy
237
An infant with hypotonia, almond shaped eyes, cryptorchidism, and FTT followed by obesity is most likely
Prader-Willi
238
Subtle seizures are marked by
Oral, facial, ocular activity
Swimming/pedaling movements
Vital sign changes or apnea
*most frequent neonatal seizure type*
239
Multifocal tonic seizures are notable for
Clonic activity and movements of one limb that migrates to other parts of the body
"Jitteriness"
Minimal apnea or ocular involvement
Usually in term infants
240
Focal clonic seizures are
Localized (one limb/area)
Don't impact consciousness
Focal disease>metabolic disorders
More common in term infants
241
Tonic and myoclonic seizures are more common in
Preterm infants
242
Tonic seizures include
Posturing
| Vital sign changes
243
Myoclonic seizures appear like
Rapid jerks of extremities
244
A deficiency that can cause and should be considered in treatment of seizures is
Pyridoxine
245
A deficiency that can cause and should be considered in treatment of seizures is
Pyridoxine
246
Half life of phenobarbital is
~100h
247
Infants receiving phenytoin should be monitored for
Cardiac arrhythmias
248
A prosencephalic vein malformation can lead to
Vein of Galen malformation
249
Brain atrophy with a cranial bruit, hemorrhagic infarction and central ischemia is concerning for
Vein of Galen malformation
250
The mechanism of injury from vein of Galen malformation is primarily
Intracranial steal
251
Secondary effects of intracranial steal due to vein of Galen malformation are
Veinous thrombosis--> hemorrhagic infarction
High output CHF--> cerebral ischemia
Cranial compression--> brain atrophy
252
CHF in vein of Galen malformation presents
Early: day 0-3
Refractory to medical management
Cranial bruit
253
Outcomes of vein of Galen malformation are ______ and dependent on ________
High morbidity and mortality
| Dependent on severity of CHF and success of management of CHF and embolization
254
Most intracranial tumors in neonates are
Teratomas
Supratentorial
Present with increased FOC
Very poor prognosis
255
Neurocutaneous syndromes are
STNVM :
```
Sturge-Weber
Tuberous sclerosis
Neurofibromatosis syndrome
Von Hippel-Lindau
McCune-Albright
```
256
CP affects ____% of infants <1500g
5-20%
257
Athetoid cerebral palsy is increased in
Bilirubin encephalopathy
258
Apgar scores of 0-3 at 20 minutes increase risk of CP to
57%
259
Most infants with CP have _____ apgar scores
Normal
260
Most common type of CP is
Spastic
261
CP with increased tone, DTR's, normal cognition, and gross motor but not fine motor effects is characteristic of
Spastic CP
262
A mixed tone CP involving gross and fine motor deficits, hearing and speech abnormalities is
Athetoid cerebral palsy
263
The least common form of CP is
Ataxic
264
CP most likely to have severe cognitive delay with decreased tone, coordination, and reflexes is
Ataxic CP
265
Findings concerning for CP are
Hypotonia
Inability to suck
Weak cry
--- >24h of life
266
CP is typically diagnosed at ______ age and is non-progressive/progressive
6 to 18 months
| Non-progressive
267
Mental deficiency two are more standard deviations below the main IQ effects ______% of the population
3%
268
The most common onset of etiologies causing mental deficiency are ________
Prenatal, 60 to 80%
269
Prenatal causes of mental deficiency can include
```
Trauma
Perinatal depression
Metabolic causes, characteristics, severe neonatal hypoglycemia
Infection, meningitis
Intracranial hemorrhage, stroke
```
270
Postnatal and perinatal causes of mental deficiency each contribute approximately _____%
10%
271
Profound mental deficiency is defined as an IQ of less than
<20
272
An IQ of less than ______ defines mild mental deficiency
52-68
273
New IQ classifications are based on
Level of support needed for daily activities of living
274
Term infants hearing loss occurs at a rate of _____ as compared with premature infants of less than 32 weeks with a rate of _____
1/1000- profound, bilateral
2/1000- mild-moderate
1/1000- unilateral
Preterm: 2-4/100
275
Most common cause of hearing loss is
Genetic, 50%
276
Inheritance pattern of hearing loss is
_____% autosomal recessive
_____% autosomal dominant
_____% other
70%
15%
15%
277
The most common gene defect implicated in genetic hearing loss is
```
Connexin 26 (Cx26)
Accounts for 20 to 30% of congenital hearing loss
```
278
Syndromes associated with hearing loss are
```
Alport
CHARGE
Klippel-Feil
P-PR: Pendred, Pierre-Robin
Stickler
Treacher-collins
Tri 8/21
Usher
Waardenburg
```
279
Acquired causes of hearing loss account for _____%
25%
280
The most common cause of acquired hearing loss is
Congenital CMV infection
281
Hearing loss is defined as inability to hear at_______ decibels
<21
282
Normal hearing range is
-10 - 20
283
Profound hearing loss is ______ decibels
>90
284
Sound transmission interference from the external auditory canal to the inner ear is
Conductive hearing loss
285
Abnormal development or damage of cochlear hair cells or auditory nerve are
Sensorineural hearing loss
286
Most common cause of conductive hearing loss is
Fluid in the middle ear
287
____% cases should be detected in the newborn hearing screening
90%
288
____ hearing screening is more likely to have a false positive due to excess debris or fluid in the external auditory canal
EOAE
289
EOAE screening works
Measuring acoustic feedback from the cochlea
290
ABR screening works by
Measuring the EEG waves generated in response to clicks
291
Rescreening for infants who fail the EOAE screening should be done
Within 10 days using ABR
292
Evaluation and management for failed hearing loss in the newborn period should include
```
ENT consult
Genetics
Early intervention
Ophthalmology
Early use of amplification system, cochlear implant
```
293
Of the ___% of infants it fail initial hearing screening, ___% will have a true hearing deficit
5%
20%
