Neurology Flashcards
When does primary/secondary neurulation occur?
Dorsal induction
Primary: 3-4 weeks
Secondary: 4-7 weeks
What anomalies are associated with abnormal primary neurulation?
Anencephaly Myeloschisis Encephalocele Myelomeningocele Arnold-Chiari malformation
What anomalies are associated with abnormal secondary neurulation?
Spinal cord abnormalities Lower sacral segments Spinal cysts Tethered cord Lipoma Teratoma Myelocystocele Meningocele, Lipomeningocele
When does prosencephalic development occur?
Ventral induction
2-3 months
What anomalies are associated with prosencephalic development?
Formation: Aprosencephaly
Cleavage: Holoprosencephaly
Midline:
Agenesis of the corpus callosum
Agenesis of the septum pellucidum
Septo-optic dysplasia
When does neural and glial proliferation occur?
3-4 months
What anomalies occur during neural and glial proliferation?
Micrencephaly
Macrencephaly
When does neuronal migration occur?
3-5 months
What anomalies happen during neuronal migration?
Schizencephaly (no cortex)
Lissencephaly (smooth brain)
Pachygyria (broad gyri)
Polymicrogyria
When does neuronal organization occur?
Axonal proliferation: 3 months-birth
Dendritic and synapse: 6 months to 1 year
Synaptic rearrangements: birth to years
What disorders are association with abnormal neuronal organization?
Mental deficiency Trisomy 21 Fragile X syndrome Autism Angelman syndrome Prematurity
When does myelination occur?
Birth to years
Corticospinal tract: 38 weeks to 2 years
Which neuronal pathway is last to myelinate? When does it complete?
Association bundle connecting prefrontal cortex to temporal and parietal lobes
32 years
What disorders are associated with abnormal myelination?
Cerebral white matter hypoplasia
Prematurity
Malnutrition
What causes anencephaly and when does it occur?
Abnormal primary neurulation
First 26 days of gestation
What is the incidence and epidemiology of anencephaly?
0.2-3 in 1000 births
Female
Hispanic women
What factors increase the risk of anencephaly?
Maternal hyperthermia Maternal deficiencies of - Folate - Copper - Zinc Previous anencephaly (2-5% recurrence)
What anomalies are associated with anencephaly?
13-33%:
- CHD
- CDH
- Renal malformation
- Hypoplastic adrenal glands
- Omphalocele
- Trisomy 13
- Trisomy 18
Anencephaly is identified clinically through findings of
Elevated AFP Fetal ultrasound at 14 to 15 weeks Karyotype Polyhramnios 65% with spontaneous abortion
A primary neurulation defect that result in failed closure the rostral neural tube with herniation of meminges and brain is
Encephalocele
The percentage of encephaloceles that are associated with other anomalies
40%
70% of encephaloceles are located in the _____ region
Occipital
In encephalocele, AFP is usually
Normal
Prognosis of encephalocele is determined by
Amount of brain tissue within the sac
Presence of hydrocephalus, microcephaly, other anomalies
A frontal encephalocele has a better prognosis
Abnormal neurulation resulting in failure of posterior neural tube closure with open defects not covered by the skin is a
Myelomeningocele
In the United States myelomeningoceles occur most in the
East and south regions
Folic acid supplementation decreases the risk of neural tube defects
60 to 70%
The difference between a meningocele and a myelomeningocele is
Meningocele only meninges herniate through bony abnormality. Myelomeningocele both spinal cord and meninges herniate.
Myelomeningocele lesions below the level of ______ impact ambulation abilities
L3-4
In myelomeningocele reflexes are absent if the lesion is at level _____ or higher
L2
How often does hydrocephalus occur in the setting of myelomeningocele?
80%
A primary neurulation defect that causes displacement of the cerebellum tonsils through the foramen magnesium is
Arnold chiari malformation
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
Absence of telencephalon and diencephalon due to abnormal development in the prosencephalic stage is
Aprosencephaly
Clinical signs of Aprosencephaly can include
Intact skull and hair but small brain volume
Cyclopia or absence of eyes
Genitalia and limb anomalies
Abnormal development in the prosencephalic stage causing primary defect in cleavage is
Holoprosencephaly
Recurrence risk of holoprosencephaly is
6%
____% of holoprosencephaly is associated with a chromosomal abnormality.
40%
A maternal condition that increases the risk of holoprosencephaly
Maternal diabetes
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
The outcome of holoprosencephaly is
Extremely poor with high rate of fetal demise
Extracranial abnormalities are present in holoprosencephaly _____%
50%
Myelomeningocele
Renal malformations
CHD
Polydactyly
Consequences of Neuro malfunctions in holoprosencephaly are
Apnea
Seizures
Hypothalamic dysfunction
DI/SIADH
A defect in midline development during the prosencephalic stage is
Agenesis of the corpus collosum
Associated abnormalities with agenesis of the corpus collosum
Dandy Walker Holoprosencephaly Dysmorphic facies CHD Nonketotic hyperglycemia Pyruvate dehydrogenase deficiency Tri 8,13,18
Diagnostic confirmation of agenesis of the corpus collodum is with
MRI
Developmental outcome in agenesis of the corpus collosum is
Normal if no other anomalies
Increased rush if other neuro malformations
Increased risk of seizures
Medial, frontal and parietal lobes vascular supply is from the
Anterior cerebral artery
Lateral hemispheres receive vascular supply from
Middle cerebral artery
Midbrain, occipital lobes, and inferior temporal lobes receive vascular supply from
Posterior cerebral artery
The internal carotid artery supplies the
Anterior and middle cerebral arteries
The basilar artery supplies the
Posterior cerebral artery
Cerebral perfusion pressure is calculated:
MAP - ICP
Hypoglycemia and seizures can cause _______ cerebral blood flow
Increased
Anemia causes _____ cerebral blood flow
Decreased
Head circumference growth is approximately
1cm/week after 3rd week of life
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
50% of macrocephaly is due to
Familial- benign familial macrocephaly (50%, male> female)
Chromosomal abnormalities associated with macrocephaly are
Beckwith-Wiedeman Neurofibromatosis Soto syndrome Fragile x Achondroplasia
Craniosynostosis usually presents by
6 months
Syndromes known to be associated with craniosynostosis are
Crouzon
Apert
Metabolic causes of craniosynostosis
Hypophosphatemia
Rickets
Hypercalcemia
Goals of surgical intervention for craniosynostosis are
Prevent ICP
Allow brain growth
Prevent visual/auditory compromise
Skull/facial appearance
The most common form of craniosynostosis is
Scaphocephaly or dolichocephaly
56%
The least common type of craniosynostosis is
Occipital plagiocephaly (2%)
Sagittal suture craniosynostosis causes
Elongated skull
Scaphocephaly/dolichocephaly
Normal brain growth
Males»females
The most common craniosynostosis in Crouzon or Apert syndromes
Frontal plagiocephaly
Unilateral coronal suture closure
Females»_space; males
High rate of neurodevelopment impacts
Craniosynostosis associated with carpenter syndrome is
Brachycephaly (13%)
Bilateral coronal suture closure
Craniosynostosis that cause hypotelorism is
Trigonocephaly (4%)
Metopic suture closure
The highest risk for ICP and mental deficiency from craniosynostosis is with
Multiple suture involvement
Surgery indicated as early as possible
Normal closure of the anterior fontanelle occurs by
2 years
An enlarged anterior fontanelle can indicate
Hydrocephalus CNS infection Hypothyroidism Tri 13, 18, 21 Zellweger syndrome hypophosphatemia
The cranial nerve responsible for smell
One
The cranial nerve responsible for functions of the eye and movement are
2, 3, 4, 6
The cranial nerves responsible for facial sensation and movement
5, 7
Cranial nerve responsible for hearing
8
Sucking, swallowing, and tongue movement are responsibilities of cranial nerves:
5, 7, 9, 10, 12
Cranial nerves responsible for taste are
7, 9
Mobius syndrome is
Bilateral facial paresis due to hypoplasia or absence of cranial nerve nuclei
Pathologic hypertonia is due to
Corticospinal tract or extrapyramidal systems injury
HIE Meningeal inflammation Hemorrhage Bilateral cerebral injury Basal ganglia injury
An abnormal Dubowitz exam indicates
Neonatal hypotonia
Infant slips through hand when held under armpits
Syndromes commonly with hypotonia
Tri 21
Prader-Willi
Angelman
Metabolic disorders with hypotonia
Urea cycle defects
Isovaleric acidemia
Hypothyroidism
Hypermagnesemia
Contralateral hemiparesis, eye deviation, and gradient weakness in upper or lower extremities is suggestive of
Focal cerebral injury
Term: upper»> lower weakness
Preterm: lower»_space;» upper weakness
Weakness in the proximal limbs, upper greater than lower is from
Parasagittal cerebral injury
Symmetric weakness in the lower greater than the upper extremity is from
Periventricular bilateral cerebral injury
Flaccid weakness in all extremities that evolves to spasticity is due to
Spinal cord injury
Flaccid weakness in all extremities associated with fasciculations is
Lower motor neuron injury
Focal weakness in specific patterns is due to
Nerve root injury
Generalized weakness is due to
Peripheral nerve injury
Generalized weakness with hypotonia is due to
Neuromuscular junction injury
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
DTRs that appear normal at birth but become progressively more brisk are due to
Upper motor neuron lesion
DTRs that are absent with an asymmetric plantar response is due to
Lower motor neuron lesion
Unaffected DTRs with significant muscle weakness is due to
Neuromuscular junction injury
Decreased muscle strength with intact DTRs is due to
Muscle injury
Clonus is abnormal if present past ____ age
3 months
Moro reflex should disappear by ____ age
6 months
Asymmetric Morro reflex suggests
Peripheral nerve injury
Palmar reflex should disappear by _____
2-4 months
Persistent palmar grasp suggests
Athetoid cerebral palsy
Tonic neck reflex should disappear by ____
6 months
Persistent tonic neck reflex suggests
Focal cerebral abnormalities
Rooting reflex should disappear by
4 months
Crossed extensor reflex should disappear by
2 months
CSF is produced by the _______ at a rate of _____
Choroid plexus
0.4ml/min
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
The structure responsible for producing and regulating pressure of CSF
Choroid plexus
A neuroepithelial fold containing CSF and debris is a
Choroid plexus cyst
Most choroid plexus cysts appear at _____ and disappear by _____
11 weeks
26 weeks
A small number of choroid plexus cyst are associated with
Trisomy 18
CSF is recycled every
5-7 hours
A major electrolyte component of CSF is
Sodium
CSF concerning for IVH is
Xanthochromic with increased RBC and protein
A discontinuous EEG is find in infants age
27-30 weeks
EEG synchrony begins at ____ weeks during ______
31 sleep
EEG responds to external stimuli beginning at ____ weeks
34 weeks
Delta brushes on EEG are first seen at ____ weeks and disappear at _____
29 weeks
Term
Theta bursts on EEG are first seen at ____ weeks and disappear at _____
29 weeks
35 weeks
Abnormal progression of EEG pattern by more than ____ suggests
3 weeks
Underlying disorder
Neuro insults, HIE, meningitis, encephalitis and metabolic disorders have ______ on EEG.
Background depression
A lack of response to external stimuli appears as ______ on EEG
Burst suppression
Poor prognosis
Cerebral cortical death is marked by ________ on EEG
Electrocerebral silence >72h
________ are a typical finding on EEG in preterm infants. In term infants it came indicate ________
Periodic discharges
Middle cerebral artery infarction
A prolonged high voltage on EEG is shown as ______
Multifocal sharp waves
Multiple etiologies
PVL shows up on EEG as
Central positive sharp waves
Hypsarrhythmia is characteristic of _____ and shows up after ______
Infantile myoclonic spasms
2 months
Cranial US is least useful for lesions located ______
Posterior fossa
Cranial CT is most useful for
Intracranial calcifications >>>MRI Parenchymal processes Fluid collections Posterior fossa lesions Avoiding sedation (vs MRI)
Brain MRI is better than CT for
Avoiding radiation Migration and myelination disorders AV malformations Ischemia PVL Spinal cord
Most common cause of obstructive hydrocephalus is
IVH (post hemorrhagic)
Aqueductal stenosis causes hydrocephalus by
Obstruction of the aqueduct causing 3rd and lateral ventricle dilation
1/3 of parents with hydrocephalus
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
A cystic dilation of the 4th ventricle, cerebellar vermis hypoplasia/aplasia with hydrocephalus is most likely
Dandy Walker malformation
Hydrocephalus is due to Dandy Walker ____%
5-10%
Typical management of Dandy Walker includes a
VP shunt
Dandy Walker prognosis is related to
Age at onset (earlier is worse)
Severity of malformation
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
Causes of communicating hydrocephalus
AA- CEGI- LL
Arnold chiari - Acquired hydrocephalus
Congenital absence of arachnoid granulation
GBS ventriculitis
IVH
Leptomeningeal inflammation -Lissencephaly
What two forms of neuromuscular impairment are required for a diagnosis of HIE?
Spastic quadriplegia
OR
Dyskinetic CP
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
Hypoxia decreases
Oxidative phosphorylation
Brain glucose
Phosphocreatine
ATP
Stage 1 Sarnat HIE can include
Hyperalert
Mild distal flexion
Weak suck reflex
Tachycardia
Seizures are most likely part of stage ____ Sarnat HIE
Stage 2
Lethargy, weak suck and Moro reflexes and mild hypotonia are consistent with stage _____ Sarnat HIE
Stage 2
The diving reflex shifts ____
Blood flow preferentially to brain, heart, and adrenal glands
HIE causes seizures that are _________ in about ____% of patients
Subtle, focal, multifocal or myoclonic
50%
The time of hyperventilation in HIE is
Not recommended; may be detrimental
In moderate and severe HIE, ____% and ____% of parents will have significant deficits
20% -higher risk for symptoms > 5-7d
100%
The most common cerebral injury after HIE is
Selective neuronal necrosis
Selective neuronal necrosis occurs ____ after injury due to ____
24-36h
Excitatory amino acids
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)
In term infants with systemic hypotension, hypoxemia, acidosis, the likely injury is
Parasagittal cerebral injury
In parasagittal cerebral injury, location of necrosis is marked by
Border areas of anterior, middle and posterior cerebral arteries
Typically bilateral and symmetrical
Clinically parasagittal cerebral injury presents with
Proximal limbs weakness, upper» lower
Shoulder girdle weakness
In parasagittal cerebral injury, deficits of the auditory, visual, spatial and language abilities suggests vascular involvement of the
Posterior cerebral artery
Ischemia that is unilateral, left and most commonly involving the MCA is called
Focal or multifocal ischemia
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
Papillary response and oculomotor response in focal or multifocal ischemia are
Normal
Periventricular hemorrhagic infarction is associated with __________ in 80% of cases
Large asymmetric IVH
IVH leads to periventricular hemorrhagic infarction sure to
Obstructed blood flow in terminal vein from IVH causing venous infarction to medullary veins
Most periventricular hemorrhagic infarction is located
Dorsal and lateral to lateral ventricle external angle
Periventricular hemorrhagic infarction usually leads to
Spastic hemiparesis or asymmetric quadriparesis
Upper== lower extremities
In contrast to periventricular hemorrhagic infarction, periventricular leukomalacia usually affects
Lower extremities more than upper extremities
Spastic diplegia
Focal injury and necrosis of the periventricular white matter causes
PVL
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
Best imaging and timing for PVL is
US at 1 month of age or more
Outcome of PVL can include
Spastic diplegia
Cognitive and visual deficits
Hemorrhage in term infants caused by trauma and testing of veins and venous sinuses is
Subdural hemorrhage
Location of subdural hemorrhage can be
Infratentorial
Or
Over convexities
Which location of subdural hemorrhage had a worsened severity and outcome?
Infratentorial
Both infratentorial and convexity subdural hemorrhage can have an onset of
Delayed from injury several days (infratentorial) to months (over convexity)
Convexity subdural may initially present with
Increasing head circumference
Likelihood of hydrocephalus requiring VP shunt in subdural hemorrhage is
10-15%
The most common type of intracranial bleed in infants is
Subarachnoid
An uncommon type of intracranial bleed in infants causing brainstem compression is
Cerebellar hemorrhage
A common outcome of cerebellar hemorrhage in infants is
Long term neurodevelopment deficits
Diagnosis of cerebellar hemorrhage is best by
CT
In VLBW infants, incidence of IVH ranges from
8% (1250-1500g) to 32% (<750g)
Location of IVH are typically in the
Germinal matrix and subependymal germinal matrix
___% of IVH occur in the first 72h of life
90%
IVH can lead to
Posthemorrhagic hydrocephalus
PVL
IVH occurs in ___% of healthy term newborn’s
2%
In term infants, IVH results in ____% normal neuro outcome, ___% severe deficits, _____ requiring shunt, and ___% mortality
55% normal
40% severe deficits
50% shunt
5% mortality
From most superficial to deep, rank subgaleal, cephalohematoma, caput, and extradural hemorrhage
Captut Subgaleal Cephalohematoma Extradural Subdural
Subgaleal hemorrhage can extravasate ___% of an infant’s blood volume
40%
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
Extradural hemorrhage management often includes
Evacuation to alleviate ICP
Extradural hemorrhage can be associated with
Cephalohematoma
Linear skull fracture
Brachial plexus injuries are most likely to involve ______ nerve roots on the _____ side
Upper
Right (90% unilateral)
Recovery of brachial plexus injury is recovery of ____% by 4 months and ____% by 1 year.
88%
92%
Full recovery of brachial plexus injury occurs with improvement at _______ and recovery by ______
2 weeks
6 months
After brachial plexus injury, deficits remaining at ______ do not resolve
15 months
Nerve roots affected in Erb-Duchenne palsy:
C5-7
Nerve roots affected in Klumpke’s palsy:
C8-T1
In brachial plexus injury, ______ palsy is most common
Erb’s (90%)
Both Erb’s palsy and Klumpke’s palsy have an absent ________ reflex.
Biceps reflex
Absent biceps reflex and shoulder moro, intact palmar grasp with waiters tip positioning is
Erb’s palsy
Absent biceps, moro, and grasp reflex with weak hand flexors is
Klumpke’s palsy
Miosis, ptosis, anhidrosis, and decreased iris pigmentation is consistent with injury to nerve root:
T1 (Horner’s syndrome)
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
Most common cranial nerve injury during birth is
Facial nerve
Facial nerve palsy causes
Facial muscle weakness Asymmetric cry Incomplete eyelid closure Flat nasolabial fold Left (75%)>>>right
Expected recovery of facial nerve palsy is
1-3 weeks
Lower motor neuron disorders:
CANMM:
Congenital myopathy Anterior horn cell Neuromuscular junction Muscular dystrophy Metabolic/multi-system disease
Spinal muscle atrophy is an example of
Anterior horn cell, lower motor neuron disorders
Spinal muscle atrophy genetics are
Autosomal recessive
Chromosome 5
Presentation of SMA is
Generalized hypotonia Frog leg position Jug handle arm position Areflexia Tongue fasciculations Abdominal breathing
SMA labs
Normal CPK
Denervation, fasciculations and fibrillations on EMG
Normal nerve conduction velocity
Atrophied motor units on muscle biopsy
Acquired transient neonatal myasthenia gravis is a disorder of the
Neuromuscular junction
Neonatal myasthenia gravis occurs in _____% of infants of mother’s with myasthenia gravis
10-20%
Recurrence risk of neonatal myasthenia gravis is
75%
Neonatal myasthenia gravis is caused by
Anti acetylcholine receptor antibodies
Hypotonia, polyhramnios, pulmonary hypoplasia, arthrogryposis, respiratory failure and feeding difficulties occur with
Anti acetylcholine receptor antibodies,
Neonatal myasthenia gravis
Transient neonatal myasthenia gravis usually lasts ______ and is treated with ___________
18 days
Anticholinesterase therapy
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
Congenital myasthenia gravis is in two forms:
Congenital myasthenia
Familial infantile myasthenia
Genetic inheritance of birth forms of congenital myasthenia gravis is
Autosomal recessive
Congenital myasthenia is caused by _________
Endplate acetylcholine receptor deficiency
Familial infantile myasthenia is caused by _______
Acetylcholine synthesis or vesicle packaging deficiency
Congenital myasthenia is __________ (more/less) severe than familial infantile myasthenia.
Less severe
Congenital myasthenia presents with
Hypotonia: ptosis, ophthalmoplegia, facial weakness, poor suck and cry
Familial infantile myasthenia presents with
Hypotonia, respiratory failure, apnea, severe feeding difficulties, facial weakness, ptosis
EMG results for transient, congenital and familial myasthenia
Show progressive weakness with prolonged stimulation
Congenital myotonic dystrophy is a form of muscular dystrophy inherited
Autosomal dominant
Chromosome 19
Expanding CTG repeats
Almost exclusive maternal inheritance
Congenital myotonic dystrophy is caused by
Abnormal protein leading to dysfunctional sodium and potassium channels
Polyhydramnios, prolonged labor, maternal difficulty opening eyes and releasing hang grip are consistent with
Congenital myotonic dystrophy
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%
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
Riley-Day, Prader-Willi, and arthrogryposis multiplex congenita are all disorders marked by
Hypotonia and muscle weakeness
9q31-33 defective gene that transmits an autosomal recessive hypotonia disorder in Ashkenazi Jewish families is
Riley-Day
Familial dysautonomia is diagnosed by
Riley-Day:
Pupil constriction with metacholine drops/pilocarpine
No flare with intradermal histamine
Genetics: 9q31-33 fever defect, AR
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
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
Deletion of 15q 11q13/maternal uniparental disomy/or maternal methylation causes a syndrome markers by hypotonia called
Prader-Willi
In Prader-Willi, the deleted gene material at 15q11-13 is ________ origin
Paternal–> maternal uniparental disomy
An infant with hypotonia, almond shaped eyes, cryptorchidism, and FTT followed by obesity is most likely
Prader-Willi
Subtle seizures are marked by
Oral, facial, ocular activity
Swimming/pedaling movements
Vital sign changes or apnea
most frequent neonatal seizure type
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
Focal clonic seizures are
Localized (one limb/area)
Don’t impact consciousness
Focal disease>metabolic disorders
More common in term infants
Tonic and myoclonic seizures are more common in
Preterm infants
Tonic seizures include
Posturing
Vital sign changes
Myoclonic seizures appear like
Rapid jerks of extremities
A deficiency that can cause and should be considered in treatment of seizures is
Pyridoxine
A deficiency that can cause and should be considered in treatment of seizures is
Pyridoxine
Half life of phenobarbital is
~100h
Infants receiving phenytoin should be monitored for
Cardiac arrhythmias
A prosencephalic vein malformation can lead to
Vein of Galen malformation
Brain atrophy with a cranial bruit, hemorrhagic infarction and central ischemia is concerning for
Vein of Galen malformation
The mechanism of injury from vein of Galen malformation is primarily
Intracranial steal
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
CHF in vein of Galen malformation presents
Early: day 0-3
Refractory to medical management
Cranial bruit
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
Most intracranial tumors in neonates are
Teratomas
Supratentorial
Present with increased FOC
Very poor prognosis
Neurocutaneous syndromes are
STNVM :
Sturge-Weber Tuberous sclerosis Neurofibromatosis syndrome Von Hippel-Lindau McCune-Albright
CP affects ____% of infants <1500g
5-20%
Athetoid cerebral palsy is increased in
Bilirubin encephalopathy
Apgar scores of 0-3 at 20 minutes increase risk of CP to
57%
Most infants with CP have _____ apgar scores
Normal
Most common type of CP is
Spastic
CP with increased tone, DTR’s, normal cognition, and gross motor but not fine motor effects is characteristic of
Spastic CP
A mixed tone CP involving gross and fine motor deficits, hearing and speech abnormalities is
Athetoid cerebral palsy
The least common form of CP is
Ataxic
CP most likely to have severe cognitive delay with decreased tone, coordination, and reflexes is
Ataxic CP
Findings concerning for CP are
Hypotonia
Inability to suck
Weak cry
— >24h of life
CP is typically diagnosed at ______ age and is non-progressive/progressive
6 to 18 months
Non-progressive
Mental deficiency two are more standard deviations below the main IQ effects ______% of the population
3%
The most common onset of etiologies causing mental deficiency are ________
Prenatal, 60 to 80%
Prenatal causes of mental deficiency can include
Trauma Perinatal depression Metabolic causes, characteristics, severe neonatal hypoglycemia Infection, meningitis Intracranial hemorrhage, stroke
Postnatal and perinatal causes of mental deficiency each contribute approximately _____%
10%
Profound mental deficiency is defined as an IQ of less than
<20
An IQ of less than ______ defines mild mental deficiency
52-68
New IQ classifications are based on
Level of support needed for daily activities of living
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
Most common cause of hearing loss is
Genetic, 50%
Inheritance pattern of hearing loss is
_____% autosomal recessive
_____% autosomal dominant
_____% other
70%
15%
15%
The most common gene defect implicated in genetic hearing loss is
Connexin 26 (Cx26) Accounts for 20 to 30% of congenital hearing loss
Syndromes associated with hearing loss are
Alport CHARGE Klippel-Feil P-PR: Pendred, Pierre-Robin Stickler Treacher-collins Tri 8/21 Usher Waardenburg
Acquired causes of hearing loss account for _____%
25%
The most common cause of acquired hearing loss is
Congenital CMV infection
Hearing loss is defined as inability to hear at_______ decibels
<21
Normal hearing range is
-10 - 20
Profound hearing loss is ______ decibels
> 90
Sound transmission interference from the external auditory canal to the inner ear is
Conductive hearing loss
Abnormal development or damage of cochlear hair cells or auditory nerve are
Sensorineural hearing loss
Most common cause of conductive hearing loss is
Fluid in the middle ear
____% cases should be detected in the newborn hearing screening
90%
____ hearing screening is more likely to have a false positive due to excess debris or fluid in the external auditory canal
EOAE
EOAE screening works
Measuring acoustic feedback from the cochlea
ABR screening works by
Measuring the EEG waves generated in response to clicks
Rescreening for infants who fail the EOAE screening should be done
Within 10 days using ABR
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
Of the ___% of infants it fail initial hearing screening, ___% will have a true hearing deficit
5%
20%
