Neurology Flashcards
1
Q
Syringomyelia
- Paracentral cavity, known as a syrinx, in the spinal cord
- Associations: Strong association with _____
A
Syringomyelia
- Paracentral cavity, known as a syrinx, in the spinal cord
- Associations: Strong association with Type I Chiari
2
Q
Chiari Malformation: Downward (caudal) displacement of the ___ and ___
A
Chiari Malformation: Downward (caudal) displacement of the brainstem and cerebellum
3
Q
Chiari Type I
- ____ are pushed down below the foramen magnum.
- Generally, >0.5cm displacement is considered significant.
- Strong association with _____.
- For asymptomatic type 1, no treatment is __. Symptomatic type I needs ___.
A
Chiari Type I
- Cerebellum tonsils or vermis are pushed down below the foramen magnum.
- Generally, >0.5cm displacement is considered significant.
- Strong association with syringomyelia.
- For asymptomatic type 1, no treatment is necessary. Symptomatic type I needs surgery.
4
Q
Chiari Type II (Arnold-Chiari)
- ___ and ___ are pushed down below the level of the foramen magnum. This blocks the outflow of CSF and 85% of these pts have hydrocephalus.
- Associated with TWO things: ____ and ____
- Virtually all myelomeningoceles have type 2 Chiari malformation.
- Symptoms like in type 1, but they have accompanying hydrocephalus and myelomeningocele.
A
Chiari Type II (Arnold-Chiari)
- 4th ventricle and lower medulla are pushed down below the level of the foramen magnum. This blocks the outflow of CSF and 85% of these pts have hydrocephalus.
- Associated with TWO things: Myelomeningocele and hydrocephalus
- Virtually all myelomeningoceles have type 2 Chiari malformation.
- Symptoms like in type 1, but they have accompanying hydrocephalus and myelomeningocele.
5
Q
Lissencephaly (Agyria)
- Smooth cerebral surface with thickened cortical mantle and a lack of cerebral folds (gyri) and grooves (sulci).
- CT or MRI shows a smooth brain without sulci
- Tx: Anticonvulsants to manage the seizures and supportive care
A
Lissencephaly (Agyria)
- Smooth cerebral surface with thickened cortical mantle and a lack of cerebral folds (gyri) and grooves (sulci).
- CT or MRI shows a smooth brain without sulci
- Tx: Anticonvulsants to manage the seizures and supportive care
6
Q
Walker-Warburg (HARD+E) syndrome (muscle, brain, eyes)
- ____, ____, _____, _____
- _______ is a “buzzword” for Walker-Warburg syndrome
- Presents at birth with severe and generalized hypotonia, eye involvement and seizures. In addition to cobblestoning lissencephaly, hydrocephalus and brainstem and cerebellar hypoplasia are also noted.
A
Walker-Warburg (HARD+E) syndrome (muscle, brain, eyes)
- Hydrocephalus, agyria (congenital lack of the convolutional pattern of the cerebral cortex), retinal dysplasia, encephalocele
- Cobblestoning lissencephaly is a “buzzword” for Walker-Warburg syndrome
- Presents at birth with severe and generalized hypotonia, eye involvement and seizures. In addition to cobblestoning lissencephaly, hydrocephalus and brainstem and cerebellar hypoplasia are also noted.
7
Q
Schizencephaly
- Unilateral or bilateral clefts within the cerebral hemispheres.
- Tx consists of anticonvulsants and physical therapy.
A
Schizencephaly
- Unilateral or bilateral clefts within the cerebral hemispheres.
- Tx consists of anticonvulsants and physical therapy.
8
Q
Porencephaly
- Cysts or cavities within the brain.
A
Porencephaly
- Cysts or cavities within the brain.
9
Q
Holoprosencephaly
- Most often seen with ____
A
Holoprosencephaly
- Most often seen with trisomy 13
10
Q
Agenesis of the corpus callosum
- X-linked dominant or recessive trait or as an AD trait
- Can be seen in conjunction with trisomy 8 and trisomy 18
- ____ has been linked to agenesis of corpus callosum.
A
Agenesis of the corpus callosum
- X-linked dominant or recessive trait or as an AD trait
- Can be seen in conjunction with trisomy 8 and trisomy 18
- Maternal cocaine has been linked to agenesis of corpus callosum.
11
Q
Aicardi syndrome
- _____ inheritance
- Triad of ____, ____, and ____.
A
Aicardi syndrome
- Disorder of girls due to its X-linked dominant inheritance
- Triad of agenesis of the corpus callosum, infantile spasms, and retinal abnormalities (eg chorioretinal lacunae).
12
Q
Shapiro syndrome
- Episodic ___, ___, and ___.
A
Shapiro syndrome
- Episodic hypothermia, hyperhidrosis, and agenesis of the corpus callosum.
13
Q
Reverse Shapiro syndrome
- Episodic ____ in the setting of ____. Is a rare cause of fever of unknown origin.
A
Reverse Shapiro syndrome
- Episodic hyperthermia in the setting of agenesis of the corpus callosum. Is a rare cause of fever of unknown origin.
14
Q
Acute hydrocephalus
- Path
- Excessive volume of intracranial CSF with ventricular dilatation.
- A group of disorders that result from impaired circulation and CSF absorption or, rarely, from increased CSF production
- Ventriculoperitoneal shunt malfunction, which occurs when there is blocked CSF drainage or due to CSF overdrainage.
- Next best step is to obtain a noncontrast head CT and a plain radiograph of the shunt (shunt series) to look for changes in ventricular size or disconnection, migration, or problems in the VP shunt hardware.
- Classification:
- Noncommunicating / Obstructive: (Occlusion is most common cause)
- Can be either acquired or congenital
- Acquired causes, which occurs later in life:
- Neoplasm (Brain tumors, spinal cord tumor, choroid plexus tumor)
- Congenital causes, which may be diagnosed in utero:
- Congenital aqueduct of Sylvius that occurs with congenital aqueductal stenosis
- Developmental cysts
- Posterior fossa malformations
- Chiari Type I
- Dandy-Walker malformation. High risk for apneas and seizures
- Acquired causes, which occurs later in life:
- Can be either acquired or congenital
- Communicating (nonobstructive) hydrocephalus
- Most common causes: Meningitis, subarachnoid hemorrhage, intrauterine infection (CMV, rubella, toxoplasmosis, syphilis)
- Noncommunicating / Obstructive: (Occlusion is most common cause)
- Pt:
- In infants and young children, excessive head growth
- Increased intracranial pressure can result in papilledema and extraocular muscle palsies, esp involving 2 cranial nerves CN 3 and 6.
- Headaches are most common
- Often presents with early morning headaches along with nausea and vomiting.
- Personality and behavioral changes are typical
- In all ages, as hydrocephalus worsens, bradycardia, systemic HTN, and altered respiratory rates occur if brainstem function is affected (Cushing triad). Setting sun sign occurs when upward gaze is impaired
- In infants and young children, excessive head growth
- Dx:
- Routine and serial head circumference measurements showing marked increase in size
- For confirmation, US is typically done in newborns with an open fontanelle to avoid radiation whereas CT or MRI is diagnostic in older infants and children.
- Tx: Treat underlying condition if possible.
- Surgical therapy is the most effective treatment for hydrocephalus.
- Shunt malfunction is a neurosurgical emergency, send immediately to the ED.
- Shunt can become infected and result in ventriculitis.
- Another rare problem is that they can lead to pulmonary HTN if chronic microemboli occur from the atrial catheter.
- Surgical therapy is the most effective treatment for hydrocephalus.
A
Acute hydrocephalus
- Path
- Excessive volume of intracranial CSF with ventricular dilatation.
- A group of disorders that result from impaired circulation and CSF absorption or, rarely, from increased CSF production
- Ventriculoperitoneal shunt malfunction, which occurs when there is blocked CSF drainage or due to CSF overdrainage.
- Next best step is to obtain a noncontrast head CT and a plain radiograph of the shunt (shunt series) to look for changes in ventricular size or disconnection, migration, or problems in the VP shunt hardware.
- Classification:
- Noncommunicating / Obstructive: (Occlusion is most common cause)
- Can be either acquired or congenital
- Acquired causes, which occurs later in life:
- Neoplasm (Brain tumors, spinal cord tumor, choroid plexus tumor)
- Congenital causes, which may be diagnosed in utero:
- Congenital aqueduct of Sylvius that occurs with congenital aqueductal stenosis
- Developmental cysts
- Posterior fossa malformations
- Chiari Type I
- Dandy-Walker malformation. High risk for apneas and seizures
- Acquired causes, which occurs later in life:
- Can be either acquired or congenital
- Communicating (nonobstructive) hydrocephalus
- Most common causes: Meningitis, subarachnoid hemorrhage, intrauterine infection (CMV, rubella, toxoplasmosis, syphilis)
- Noncommunicating / Obstructive: (Occlusion is most common cause)
- Pt:
- In infants and young children, excessive head growth
- Increased intracranial pressure can result in papilledema and extraocular muscle palsies, esp involving 2 cranial nerves CN 3 and 6.
- Headaches are most common
- Often presents with early morning headaches along with nausea and vomiting.
- Personality and behavioral changes are typical
- In all ages, as hydrocephalus worsens, bradycardia, systemic HTN, and altered respiratory rates occur if brainstem function is affected (Cushing triad). Setting sun sign occurs when upward gaze is impaired
- In infants and young children, excessive head growth
- Dx:
- Routine and serial head circumference measurements showing marked increase in size
- For confirmation, US is typically done in newborns with an open fontanelle to avoid radiation whereas CT or MRI is diagnostic in older infants and children.
- Tx: Treat underlying condition if possible.
- Surgical therapy is the most effective treatment for hydrocephalus.
- Shunt malfunction is a neurosurgical emergency, send immediately to the ED.
- Shunt can become infected and result in ventriculitis.
- Another rare problem is that they can lead to pulmonary HTN if chronic microemboli occur from the atrial catheter.
- Surgical therapy is the most effective treatment for hydrocephalus.
15
Q
Neural Tube Defect
- The recurrence risk in this situation for a future pregnancy with 1 sibling affected and neither parent affected is closest to __%. If 2 siblings were affected, the recurrent risk would be higher, approaching __%. General population risk is <1%.
- Ppx: 50% or more of neural tube defects are prevented with periconceptional folic acid supplementation. Hence folic acid supplementation must start before conception and continue through the first 12 weeks of gestation.
- Most recommend that all females of childbearing potential take ___mg (min 400 mcg) folic acid daily.
- Women with previously affected child with spina bifida, or a woman on anticonvulsant therapy should take ___mg/day folic acid, starting 1 month before attempting conception and continuing through the 1s trimester.
- Valproic acid (1-2% risk) and other anticonvulsant medications increase the risk of NTD
A
Neural Tube Defect
- The recurrence risk in this situation for a future pregnancy with 1 sibling affected and neither parent affected is closest to 5%. If 2 siblings were affected, the recurrent risk would be higher, approaching 10-12%. General population risk is <1%.
- Ppx: 50% or more of neural tube defects are prevented with periconceptional folic acid supplementation. Hence folic acid supplementation must start before conception and continue through the first 12 weeks of gestation.
- Most recommend that all females of childbearing potential take 0.4-0.8mg (min 400 mcg) folic acid daily.
- Women with previously affected child with spina bifida, or a woman on anticonvulsant therapy should take 4mg/day folic acid, starting 1 month before attempting conception and continuing through the 1s trimester.
- Valproic acid (1-2% risk) and other anticonvulsant medications increase the risk of NTD
16
Q
Meningocele
- Herniation of the meninges, but not the spinal cord
- Children with CSF leaking from the meningocele or with incomplete skin covering need immediate surgical repair to prevent meningitis.
A
Meningocele
- Herniation of the meninges, but not the spinal cord
- Children with CSF leaking from the meningocele or with incomplete skin covering need immediate surgical repair to prevent meningitis.
17
Q
Myelomeningocele
- Involves the nerve roots, spinal cord, meninges, vertebral bodies, and skin.
- RF: Risk increases with an increased number of affected siblings.
- Maternal quadruple screening at 2nd trimester week 15-20:
- Elevated AFP with normal hcg, inhibit A, and unconjugated estriol levels is suggestive of open neural tube defect
- Pt: The lower the lesion is along the spine, the less severe are the neurologic deficits.
- Myelomeningoceles cause a downward displacement of the brainstem and cerebellar tonsils down into the spinal column - a condition known as Type 2 (Arnold)Chiari malformation. This causes an obstruction to normal CSF flow, with a resulting hydrocephalus occurring ~85% of the time.
- Commonly associated with __ and ___, strabismus, learning disabilities, seizures, bowel and bladder dysfunction, latex allergy, and tethered cord
- Pts with lower-level defects can have bowel and bladder issues; therefore, a dedicated evaluation of the ____ system is essential
- Evaluations should include urology consultation, ____, cystometrogram, serum electrolytes, periodic urine cultures, and vesiculourethogram.
- Tx:
- Pay special attention to the GU system and bladder catheterization bc neurogenic bladder is common and easy to miss!
- Myelomeningocele is a ____ problem, so new symptoms suggest a new process.
- In children with myelomeningocele, tethered cord may not present until the child is older, particularly during periods of growth.
A
Myelomeningocele
- Involves the nerve roots, spinal cord, meninges, vertebral bodies, and skin.
- RF: Risk increases with an increased number of affected siblings.
- Maternal quadruple screening at 2nd trimester week 15-20:
- Elevated AFP with normal hcg, inhibit A, and unconjugated estriol levels is suggestive of open neural tube defect
- Pt: The lower the lesion is along the spine, the less severe are the neurologic deficits.
- Myelomeningoceles cause a downward displacement of the brainstem and cerebellar tonsils down into the spinal column - a condition known as Type 2 (Arnold)Chiari malformation. This causes an obstruction to normal CSF flow, with a resulting hydrocephalus occurring ~85% of the time.
- Commonly associated with Chiari II malformation and hydrocephalus, strabismus, learning disabilities, seizures, bowel and bladder dysfunction, latex allergy, and tethered cord
- Pts with lower-level defects can have bowel and bladder issues; therefore, a dedicated evaluation of the genitourinary system is essential
- Evaluations should include urology consultation, renal US, cystometrogram, serum electrolytes, periodic urine cultures, and vesiculourethogram.
- Tx:
- Pay special attention to the GU system and bladder catheterization bc neurogenic bladder is common and easy to miss!
- Myelomeningocele is a static problem, so new symptoms suggest a new process.
- In children with myelomeningocele, tethered cord may not present until the child is older, particularly during periods of growth.
18
Q
Encephalocele
- Herniation of the brain, its coverings, or both through a skull defect.
- Use MRI to determine the extent of brain tissue in the encephalocele. Confirm prenatal diagnosis by US and/or an elevated aFP (however, if defect is covered by scalp/skin, level can be normal)
- Tx: Prompt surgical removal of the sac and closure of the defect
A
Encephalocele
- Herniation of the brain, its coverings, or both through a skull defect.
- Use MRI to determine the extent of brain tissue in the encephalocele. Confirm prenatal diagnosis by US and/or an elevated aFP (however, if defect is covered by scalp/skin, level can be normal)
- Tx: Prompt surgical removal of the sac and closure of the defect
19
Q
Anencephaly
- Path: Failure of closure of the anterior neural tube (neuropore), which normally closes by 24 days postconception (in contrast to myelomeningocele that is due to failure of closure of the posterior neuropore by 28 days)
- Suspect if you find elevated maternal serum aFP, which is found in OPEN neural tube defects.
- Pt: Both cerebral hemispheres are absent and usually no hypothalamus.
A
Anencephaly
- Path: Failure of closure of the anterior neural tube (neuropore), which normally closes by 24 days postconception (in contrast to myelomeningocele that is due to failure of closure of the posterior neuropore by 28 days)
- Suspect if you find elevated maternal serum aFP, which is found in OPEN neural tube defects.
- Pt: Both cerebral hemispheres are absent and usually no hypothalamus.
20
Q
Klippel-Feil Syndrome
- AD and AR
- Pt:
- Classic symptom triad: (present in <50% of pts)
- ____
- _____
- ______
- Scoliosis and renal abnormalities are commonly present.
- Classic symptom triad: (present in <50% of pts)
- Associated abnormalities: ____, a congenital elevation of the __
- Evaluation:
- ____ should be performed for all children
- X-ray of entire spine , Thoracolumbar radiography should be performed to look for additional vertebral fusions and associated scoliosis
- Treatment is primarily with physical therapy or bracing to reduce the severity of the associated scoliosis.
A
Klippel-Feil Syndrome
- AD and AR
- Pt:
- Classic symptom triad: (present in <50% of pts)
- Short neck
- Low occipital hairline
- Cervical vertebral fusion resulting in limited ROM of neck (Decreased cervical motion.)
- Scoliosis and renal abnormalities are commonly present.
- Classic symptom triad: (present in <50% of pts)
- Associated abnormalities: Sprengel deformity, a congenital elevation of the scapula (scapula is high riding and hypoplastic)
- Evaluation:
- Bc renal abnormalities can be clinically silent, renal US should be performed for all children
- X-ray of entire spine , Thoracolumbar radiography should be performed to look for additional vertebral fusions and associated scoliosis
- Treatment is primarily with physical therapy or bracing to reduce the severity of the associated scoliosis.
21
Q
Cerebral Palsy
- ______ encephalopathy. Refers to a group of disorders of chronic, nonprogressive disorder of movement, posture, and tone secondary to CNS injury or abnormality during early development.
- CP refers only to ___ deficits but is frequently seen in conjunction with seizures, intellectual disability, and learning disability.
- Causes are multifactorial
- Neonatal encephalopathy
- Asphyxia
- Low birth weight
- __ given to women in preterm labor reduces incidence and severity of CP.
- Congenital malformations
- Infection
- RF:
- RF: _____, intrauterine growth restriction, intrauterine infection, neonatal infection, antepartum hemorrhage, preeclampsia, placental pathology, multiple gestation, maternal alcohol consumption, maternal tobacco use, apgar <7 at 5 mins, neonatal infection
A
Cerebral Palsy
- Static encephalopathy. Refers to a group of disorders of chronic, nonprogressive disorder of movement, posture, and tone secondary to CNS injury or abnormality during early development.
- CP refers only to motor deficits but is frequently seen in conjunction with seizures, intellectual disability, and learning disability.
- Causes are multifactorial
- Neonatal encephalopathy
- Asphyxia
- Low birth weight
- Magnesium sulfate given to women in preterm labor reduces incidence and severity of CP.
- Congenital malformations
- Infection
- RF:
- RF: prematurity, intrauterine growth restriction, intrauterine infection, neonatal infection, antepartum hemorrhage, preeclampsia, placental pathology, multiple gestation, maternal alcohol consumption, maternal tobacco use, apgar <7 at 5 mins, neonatal infection
22
Q
- 5 types of CP:
- 1) ____ (70%) (hypertonic and hyperreflexia in LE w both feet pointing down)
- ___ motor neuron signs
- Know: Because spastic CP involves u____motor neuron signs, abnormal reflexes such as ______
- 2) ____ (15%)
- Most common type of dyskinetic CP is ____.
- Abnormal pathology is in the basal ganglia
- 3) _____ (7%)
- Typically seen with damage to the cerebellum.
- Decreased control of the head and often has floppy arms and legs.
- Often noticed in early infancy by head hanging down when being pulled into a sitting position (excessive “head lag” on pull-to-sit maneuver).
- 4) _____ (5%)
- Damage to the cerebellum
- Results in dysfunction of coordination and gait. Children have a wide-based gait.
- 5) _____ (3%)
- Usually occurs with a combination of spasticity and choreoathetosis.
- 1) ____ (70%) (hypertonic and hyperreflexia in LE w both feet pointing down)
- Seizures and intellectual disability
- Seizures occur in 25-40% of children with CP
- Intellectual disability occurs in 25-75% of children with CP.
- Dx: History, physical exam, abnormalities seen on brain imaging
- Serial examinations show a static (nonprogressive) disorder.
- Children suspected of CP, MRI is recommended to evaluate for an underlying brain abnormality as part of the initial diagnostic evaluations.
- Tx:
- Physical, occupational, and speech therapies are the cornerstone of treatment.
- Spasticity is often improved with use of diazepam, dantrolene sodium, or baclofen
- Surgery with selective dorsal rhizotomy
A
- 5 types of CP:
- 1) Spastic (70%) (hypertonic and hyperreflexia in LE w both feet pointing down)
- Upper motor neuron signs
- Know: Because spastic CP involves upper motor neuron signs, abnormal reflexes such as extensor plantar response
- 2) Dyskinetic (15%)
- Most common type of dyskinetic CP is choreoathetosis.
- Abnormal pathology is in the basal ganglia
- 3) Hypotonic (7%)
- Typically seen with damage to the cerebellum.
- Decreased control of the head and often has floppy arms and legs.
- Often noticed in early infancy by head hanging down when being pulled into a sitting position (excessive “head lag” on pull-to-sit maneuver).
- 4) Ataxic (5%)
- Damage to the cerebellum
- Results in dysfunction of coordination and gait. Children have a wide-based gait.
- 5) Mixed (3%)
- Usually occurs with a combination of spasticity and choreoathetosis.
- 1) Spastic (70%) (hypertonic and hyperreflexia in LE w both feet pointing down)
- Seizures and intellectual disability
- Seizures occur in 25-40% of children with CP
- Intellectual disability occurs in 25-75% of children with CP.
- Dx: History, physical exam, abnormalities seen on brain imaging
- Serial examinations show a static (nonprogressive) disorder.
- Children suspected of CP, MRI is recommended to evaluate for an underlying brain abnormality as part of the initial diagnostic evaluations.
- Tx:
- Physical, occupational, and speech therapies are the cornerstone of treatment.
- Spasticity is often improved with use of diazepam, dantrolene sodium, or baclofen
- Surgery with selective dorsal rhizotomy
23
Q
Friedreich Ataxia
- Path: ___Inheritance? disorder caused by ___ repeat expansion in the ___ gene on chromosome __
- Pt: Birth and early developmental milestones are almost always normal. The first signs are _____
- Other clinical findings:
- ___reflexia
- Ataxia
- Hypoactive or absent deep tendon reflexes
- Corticospinal tract dysfunction (bilateral Babinski sign)
- Impaired vibratory and proprioceptive function
- Non-neurological manifestations:
- ______
- ______
- ______
- Other clinical findings:
- Dx: Genetic testing with frataxin gene sequencing
- Tx: Multidsciplinary
- Prognosis:
- Most patients require a wheelchair within ___ years from onset of symptoms. Death occurs between ___ years of age and is typically due to the cardiomyopathy
A
Friedreich Ataxia
- Path: AR disorder caused by GAA repeat expansion in the frataxin gene on chromosome 9
- Pt: Birth and early developmental milestones are almost always normal. The first signs are gait and limb ataxia
- Other clinical findings:
- Areflexia
- Ataxia
- Hypoactive or absent deep tendon reflexes
- Corticospinal tract dysfunction (bilateral Babinski sign)
- Impaired vibratory and proprioceptive function
- Non-neurological manifestations:
- Concentric hypertrophic cardiomyopathy
- Diabetes mellitus
- Skeletal deformities (eg scoliosis and hammer toes).
- Other clinical findings:
- Dx: Genetic testing with frataxin gene sequencing
- Tx: Multidsciplinary
- Prognosis:
- Most patients require a wheelchair within 10-20 years from onset of symptoms. Death occurs between 30-40 years of age and is typically due to the cardiomyopathy
24
Q
Ischemic strokes
- Path:
- _____ is the most common cause of stroke in children
- Higher concentrations of hemoglobin F do not lower the risk of stroke.
- 20% of children with SCD have MRI/CT evidence of stroke but no recognizable clinical symptoms.
- Follow chronic transfusion protocols to prevent recurrences.
- Use transcranial doppler US to predict which children are at increased risk (mean blood flow >200cm/second in either internal carotid or middle cerebral artery).
- Acute tx is exchange transfusion
- Congenital heart disease complications cause ~25% of pediatric strokes. Most are due to embolic phenomena from the heart or shunted through the heart. Suspect embolic disease if multiple (“showering”) infarcts are found on MRI/CT.
- Unrepaired ASD should raise clinical suspicion for stroke as a cause of new hemiparesis
- Tetralogy of Fallot and transposition of the great vessels also predispose to stroke.
- Prothrombotic disorders is being increasingly recognized as an important cause of pediatric strokes, although its impact as a single primary RF is unknown.
- Antiphospholipid antibody, including anticardiolipin antibody and lupus anticoagulant
- Activated protein C (APC) resistance (Factor 5 Leiden) is the most common inheritable cause of venous thrombosis and in older children causes arterial thrombosis
- Vasculopathy / CNS vasculitis
- Bacterial meningitis is the most common cause of CNS vasculitis.
- Chickenpox is a RF for childhood stroke, with cases occurring in children <10yo. Infarcts affect the basal ganglia or internal capsule and usually occur within 9 mo of the chickenpox rash.
- Moyamoya disease
- Chronic, occlusive cerebrovascular disease that can be a primary disease or secondary to sickle cell disease, NF1, trisomy 21, and cranial irradiation
- “Puff of smoke” refers to the extensive collateral vessels resulting from prior occlusions of arteries around the circle of Willis
- Tx: Revascularization surgery
- Metabolic stroke
- Fabry disease due to accumulation of ceramide trihexoside in vascular endothelium that in turn leads to arterial narrowing, ischemia, and eventual infarction.
- Homocystinuria due to injury to vascular endothelium, which leads to thrombus formation. Measure serum homocystine levels in all children with ischemic stroke bc data shows that homocystine levels are elevated due to a large variety of genetic and environmental etiologies. These include vitamin deficiencies, renal disease, drugs (phenytoin, theophylline), cigarettes, hypothyroidism.
- MELAS - mitochondrial encephalopathy, lactic acidosis, stroke-like episodes
- _____ is the most common cause of stroke in children
- Pt:
- Pt with subacute stroke may appear well and findings can be subtle.
- In children <2 years old, a large majority of strokes present with seizures and hemiparesis.
- Diagnosis:
- CT of head is best to yield diagnosis.
A
Ischemic strokes
- Path:
- Sickle cell disease is the most common cause of stroke in children
- Higher concentrations of hemoglobin F do not lower the risk of stroke.
- 20% of children with SCD have MRI/CT evidence of stroke but no recognizable clinical symptoms.
- Follow chronic transfusion protocols to prevent recurrences.
- Use transcranial doppler US to predict which children are at increased risk (mean blood flow >200cm/second in either internal carotid or middle cerebral artery).
- Acute tx is exchange transfusion
- Congenital heart disease complications cause ~25% of pediatric strokes. Most are due to embolic phenomena from the heart or shunted through the heart. Suspect embolic disease if multiple (“showering”) infarcts are found on MRI/CT.
- Unrepaired ASD should raise clinical suspicion for stroke as a cause of new hemiparesis
- Tetralogy of Fallot and transposition of the great vessels also predispose to stroke.
- Prothrombotic disorders is being increasingly recognized as an important cause of pediatric strokes, although its impact as a single primary RF is unknown.
- Antiphospholipid antibody, including anticardiolipin antibody and lupus anticoagulant
- Activated protein C (APC) resistance (Factor 5 Leiden) is the most common inheritable cause of venous thrombosis and in older children causes arterial thrombosis
- Vasculopathy / CNS vasculitis
- Bacterial meningitis is the most common cause of CNS vasculitis.
- Chickenpox is a RF for childhood stroke, with cases occurring in children <10yo. Infarcts affect the basal ganglia or internal capsule and usually occur within 9 mo of the chickenpox rash.
- Moyamoya disease
- Chronic, occlusive cerebrovascular disease that can be a primary disease or secondary to sickle cell disease, NF1, trisomy 21, and cranial irradiation
- “Puff of smoke” refers to the extensive collateral vessels resulting from prior occlusions of arteries around the circle of Willis
- Tx: Revascularization surgery
- Metabolic stroke
- Fabry disease due to accumulation of ceramide trihexoside in vascular endothelium that in turn leads to arterial narrowing, ischemia, and eventual infarction.
- Homocystinuria due to injury to vascular endothelium, which leads to thrombus formation. Measure serum homocystine levels in all children with ischemic stroke bc data shows that homocystine levels are elevated due to a large variety of genetic and environmental etiologies. These include vitamin deficiencies, renal disease, drugs (phenytoin, theophylline), cigarettes, hypothyroidism.
- MELAS - mitochondrial encephalopathy, lactic acidosis, stroke-like episodes
- Sickle cell disease is the most common cause of stroke in children
- Pt:
- Pt with subacute stroke may appear well and findings can be subtle.
- In children <2 years old, a large majority of strokes present with seizures and hemiparesis.
- Diagnosis:
- CT of head is best to yield diagnosis.
25
Q
Neonatal cerebral infarction
- Path:
- Most are embolic and occur in _____ artery. The placenta appears to be the source for some of these emboli.
- Pt: Most common presentation is focal seizures within the first 3-4 days of life
A
Neonatal cerebral infarction
- Path:
- Most are embolic and occur in middle cerebral artery. The placenta appears to be the source for some of these emboli.
- Pt: Most common presentation is focal seizures within the first 3-4 days of life
26
Q
Cerebral Vein Thrombosis
- In neonates, seizures are the most common clinical presentation
- For older children, headache and vomiting are most frequent
A
Cerebral Vein Thrombosis
- In neonates, seizures are the most common clinical presentation
- For older children, headache and vomiting are most frequent
27
Q
Acute hemiplegia:
Causes
- Stroke
- Transient postictal hemiparesis (Todd paralysis)
- Lasts 24-48 hours but can last up to 1 week
- Sometimes has EEG activity consistent with seizures or postictal state
- It is a neuronal exhaustion phenomenon
- MRI never shows an acute infarction
- Complex migraine
- Alternating hemiplegia of children: Rare disorder
A
Acute hemiplegia:
Causes
- Stroke
- Transient postictal hemiparesis (Todd paralysis)
- Lasts 24-48 hours but can last up to 1 week
- Sometimes has EEG activity consistent with seizures or postictal state
- It is a neuronal exhaustion phenomenon
- MRI never shows an acute infarction
- Complex migraine
- Alternating hemiplegia of children: Rare disorder
28
Q
PERIPHERAL NERVE INJURIES
Serratus Anterior Palsy
- Due to involvement of the _____ leading to paralysis of serratus anterior muscle
- Path: Caused by pressure on the shoulder or excessive throwing activity with the arms elevated. Most common in boys who pitch baseballs, lift weights, or carry heavy loads.
- Pt: Winging of the scapula
- Tx: ____
A
PERIPHERAL NERVE INJURIES
Serratus Anterior Palsy
- Due to involvement of the long thoracic nerve leading to paralysis of serratus anterior muscle
- Path: Caused by pressure on the shoulder or excessive throwing activity with the arms elevated. Most common in boys who pitch baseballs, lift weights, or carry heavy loads.
- Pt: Winging of the scapula
- Tx: Use of arm sling during the 1st week alleviated discomfort. Treat with range of motion exercises, followed by active shoulder-strengthening exercises.
29
Q
Sciatic Nerve Injury
- Most common iatrogenic with IM injections. IM Injections during infancy are contraindicated in the intragluteal area - use with extreme caution in older children
- Injections can be made safely into the ____ of the gluteal region where injection is made into gluteal medius muscle, the part not covered by gluteus maximus.
A
Sciatic Nerve Injury
- Most common iatrogenic with IM injections. IM Injections during infancy are contraindicated in the intragluteal area - use with extreme caution in older children
- Injections can be made safely into the superior lateral quadrant of the gluteal region where injection is made into gluteal medius muscle, the part not covered by gluteus maximus.
30
Q
Facial nerve palsy
- Path:
- Causes:
- Multiple different
- ___ syndrome (cranial nerve nucleus abnormality- Hypoplasia of the facial nucleus and/or nerve.
- When there is no underlying cause found, it is _____, which often presents within a few weeks of a viral infection.
- Causes:
- Pt:
- Neonates present with asymmetric cry and partial eye closure on the affected side
- It is important to differentiate Bell palsy from a CNS disorder, such as an acute stroke, that only affects the lower face. To assess upper facial strength, the child should be asked to raise her eyebrows, or to visually track an object upward when holding her head still. When she tries to look upward, the forehead wrinkles will be diminished on the side of facial weakness, indicating that the temporal branches of the facial nerve are involved, confirming a peripheral nerve (CN 7) palsy.
- If the forehead wrinkles symmetrically, then a CNS cause is most likely because of the crossover from the contralateral side.
- Tx:
- Recommended tx of pediatric Bell palsy is a course of oral steroids.
- Or combined with antiviral medication (eg acyclovir) due to association of facial nerve palsy and HSV infection.
A
Facial nerve palsy
- Path:
- Causes:
- Multiple different
- Moebius syndrome (cranial nerve nucleus abnormality- Hypoplasia of the facial nucleus and/or nerve.
- When there is no underlying cause found, it is Bell’s palsy, which often presents within a few weeks of a viral infection.
- Causes:
- Pt:
- Neonates present with asymmetric cry and partial eye closure on the affected side
- It is important to differentiate Bell palsy from a CNS disorder, such as an acute stroke, that only affects the lower face. To assess upper facial strength, the child should be asked to raise her eyebrows, or to visually track an object upward when holding her head still. When she tries to look upward, the forehead wrinkles will be diminished on the side of facial weakness, indicating that the temporal branches of the facial nerve are involved, confirming a peripheral nerve (CN 7) palsy.
- If the forehead wrinkles symmetrically, then a CNS cause is most likely because of the crossover from the contralateral side.
- Tx:
- Recommended tx of pediatric Bell palsy is a course of oral steroids.
- Or combined with antiviral medication (eg acyclovir) due to association of facial nerve palsy and HSV infection.
31
Q
Marcus Gunn Phenomenon (Jaw-Winking)
- Path: Abnormal innervation of the trigeminal and oculomotor nerve - aberrant innervation of the ipsilateral levator muscle of the eyelid by the mandibular branch of the trigeminal nerve
- Pt:
- Simultaneous eyelid blinking during sucking jaw movements as the child contracts the pterygoid muscle. Eyelid droops with jaw movement to the ipsilateral side and elevates when the jaw is moved to the contralateral side.
A
Marcus Gunn Phenomenon (Jaw-Winking)
- Path: Abnormal innervation of the trigeminal and oculomotor nerve - aberrant innervation of the ipsilateral levator muscle of the eyelid by the mandibular branch of the trigeminal nerve
- Pt:
- Simultaneous eyelid blinking during sucking jaw movements as the child contracts the pterygoid muscle. Eyelid droops with jaw movement to the ipsilateral side and elevates when the jaw is moved to the contralateral side.
32
Q
SEIZURES
Neonatal Seizures
- Path:
- Multiple
- HIE is the most common cause of seizures in the newborn
- Dx: Confirm with continuous EEG
- Tx:
- ______ has long been used as 1st line therapy for seizures in neonates.
- Treat infrequent or transient seizures with diazepam 0.1-0.5 mg/kg IV or lorazepam 0.1mg/kg IV. If seizures do not stop, occur more often, or are more severe, given phenobarbital 20mg/kg IV, with a repeat dose as needed. A typical maintenance dose of phenobarbital is 3-5mg/kg/day. If phenobarbital is not effective, give fosphenytoin 20mg/kg slowly over 20 mins, with EKG monitoring.
- When do you stop therapy? Most neonatal seizures resolve by ___ month of age. Most pediatricians stop antiseizure medications 1 month after the last seizure if the neurologic examination and EEG are normal.
A
SEIZURES
Neonatal Seizures
- Path:
- Multiple
- HIE is the most common cause of seizures in the newborn
- Dx: Confirm with continuous EEG
- Tx:
- Phenobarbital has long been used as 1st line therapy for seizures in neonates.
- Treat infrequent or transient seizures with diazepam 0.1-0.5 mg/kg IV or lorazepam 0.1mg/kg IV. If seizures do not stop, occur more often, or are more severe, given phenobarbital 20mg/kg IV, with a repeat dose as needed. A typical maintenance dose of phenobarbital is 3-5mg/kg/day. If phenobarbital is not effective, give fosphenytoin 20mg/kg slowly over 20 mins, with EKG monitoring.
- When do you stop therapy? Most neonatal seizures resolve by 1 month of age. Most pediatricians stop antiseizure medications 1 month after the last seizure if the neurologic examination and EEG are normal.
33
Q
2 types of benign neonatal seizure syndromes
1) Benign familial neonatal convulsions
- AD condition. Defect on long arm of chromosome 20.
- A positive family history of neonatal seizures distinguishes benign familial neonatal convulsions from benign neonatal seizures, or “fifth-day fits.”
- Seizures eventually stop
2) Benign neonatal convulsion
- Neonate with focal clonic seizures responsive to anti epileptics. Seizures typically resolve in the first few days-weeks.
A
2 types of benign neonatal seizure syndromes
1) Benign familial neonatal convulsions
- AD condition. Defect on long arm of chromosome 20.
- A positive family history of neonatal seizures distinguishes benign familial neonatal convulsions from benign neonatal seizures, or “fifth-day fits.”
- Seizures eventually stop
2) Benign neonatal convulsion
- Neonate with focal clonic seizures responsive to anti epileptics. Seizures typically resolve in the first few days-weeks.
34
Q
Febrile Seizure
- To meet the definition, there must not be intracranial infection or inflammation, and child must not have experienced a prior seizure in the absence of fever.
- RF:
- The maximum height of the fever is the major contributing factor for risk of febrile seizure.
- Family history is important: ~40% of those affected have at least one 1st or 2nd degree relative who has had a febrile seizure. In some families, predilection is so strong that an AD mode of inheritance is now recognized. ‘
- Work up: No workup is required in cases when H&P clearly point to febrile seizure
- AAP recommends LP in the following situation:
- ____
- ____
- ____
- Do not order CT or MRI routinely
- EEG is essentially useless in evaluation of simple febrile seizures
- AAP recommends LP in the following situation:
- Simple febrile seizures do NOT damage the brain.
A
Febrile Seizure
- To meet the definition, there must not be intracranial infection or inflammation, and child must not have experienced a prior seizure in the absence of fever.
- RF:
- The maximum height of the fever is the major contributing factor for risk of febrile seizure.
- Family history is important: ~40% of those affected have at least one 1st or 2nd degree relative who has had a febrile seizure. In some families, predilection is so strong that an AD mode of inheritance is now recognized. ‘
- Work up: No workup is required in cases when H&P clearly point to febrile seizure
- AAP recommends LP in the following situation:
- In the presence of meningeal signs and symptoms
- In children 6-12mo in whom immunization status is unknown or in those who are non or incompletely immunized for Haemophilus influenzae or Strep pneumoniae
- In those who are on antibiotics (bc antibiotic can mask the clinical manifestations of meningitis)
- Do not order CT or MRI routinely
- EEG is essentially useless in evaluation of simple febrile seizures
- AAP recommends LP in the following situation:
- Simple febrile seizures do NOT damage the brain.
35
Q
Simple febrile seizure
- Pt: ______, ____, AND ______
- Management
- Do NOT give antiseizure medications with simple febrile seizures, even if they recur.
- Antipyretics and tepid baths have not been shown to prevent febrile seizures.
- Rectal diazepam is approved
- Discharge home with reassurance
- Approx 1-2% of children with simple febrile seizures eventually develop epilepsy
- Do NOT give antiseizure medications with simple febrile seizures, even if they recur.
- Children who are at risk for recurrent febrile seizures:
- Age at onset of febrile seizure <18mo is a strong predictor of recurrence risk
- In children <12mo who have a simple febrile seizure, the recurrence risk is around 50-60%.
- In children >1yo, the recurrence risk is as low as 20%.
- The recurrence risk after a first simple febrile seizure in children >12mo is approx 30%.
- Febrile seizure in 1st degree relatives
- Hx of seizure with only a modest temperature elevation (<104F)
- Brief duration between the onset of fever and the seizure.
- Age at onset of febrile seizure <18mo is a strong predictor of recurrence risk
A
Simple febrile seizure
- Pt: Generalized seizure (usually tonic-clonic, nonfocal), brief (<15 minutes), AND single seizure/24 hrs
- Management
- Do NOT give antiseizure medications with simple febrile seizures, even if they recur.
- Antipyretics and tepid baths have not been shown to prevent febrile seizures.
- Rectal diazepam is approved
- Discharge home with reassurance
- Approx 1-2% of children with simple febrile seizures eventually develop epilepsy
- Do NOT give antiseizure medications with simple febrile seizures, even if they recur.
- Children who are at risk for recurrent febrile seizures:
- Age at onset of febrile seizure <18mo is a strong predictor of recurrence risk
- In children <12mo who have a simple febrile seizure, the recurrence risk is around 50-60%.
- In children >1yo, the recurrence risk is as low as 20%.
- The recurrence risk after a first simple febrile seizure in children >12mo is approx 30%.
- Febrile seizure in 1st degree relatives
- Hx of seizure with only a modest temperature elevation (<104F)
- Brief duration between the onset of fever and the seizure.
- Age at onset of febrile seizure <18mo is a strong predictor of recurrence risk
36
Q
Complex febrile seizure
- Features (at least ⅓): ____ OR ____, OR ____
- Risk of developing epilepsy higher
- As many as 5-10% of children who have had complex febrile seizures are eventually diagnosed with epilepsy.
- Indications for a LP include age <12 mo, prolonged complex seizure, febrile status epilepticus, and partial treatment with antibiotics.
- A prolonged seizure or one that has focal features, warrants an EEG and neurologic follow-up since the risk of future epilepsy is higher.
A
Complex febrile seizure
- Features (at least ⅓): Focal seizure OR duration >15 minutes, OR >1 seizure/24 hours
- Risk of developing epilepsy higher
- As many as 5-10% of children who have had complex febrile seizures are eventually diagnosed with epilepsy.
- Indications for a LP include age <12 mo, prolonged complex seizure, febrile status epilepticus, and partial treatment with antibiotics.
- A prolonged seizure or one that has focal features, warrants an EEG and neurologic follow-up since the risk of future epilepsy is higher.
37
Q
Epilepsy
- Defined as having >2 unprovoked seizures at least 24 hours apart.
- When do you stop therapy?
- typically tapered off therapy after being seizure-free for 2 years.
- What are the teratogenic effects of drugs?
- Valproate increases risk of NTD by 1.5% and carbamazepine by 0.5-1%
- Almost all anti seizure drugs cause or promote a hemorrhagic diathesis in newborns that is not necessarily prevented by vitamin K at birth.
- A ketogenic diet can be effective in the management of medically refractory epilepsy.
- _____ can occur in 3-7% of children on this diet.
A
Epilepsy
- Defined as having >2 unprovoked seizures at least 24 hours apart.
- When do you stop therapy?
- typically tapered off therapy after being seizure-free for 2 years.
- What are the teratogenic effects of drugs?
- Valproate increases risk of NTD by 1.5% and carbamazepine by 0.5-1%
- Almost all anti seizure drugs cause or promote a hemorrhagic diathesis in newborns that is not necessarily prevented by vitamin K at birth.
- A ketogenic diet can be effective in the management of medically refractory epilepsy.
- Kidney stones can occur in 3-7% of children on this diet.
38
Q
Recurrence risk of seizures
- 25-45% seizure recurrence risk
- 40-50% of adults and children with a first, unprovoked seizure will have a recurrent seizure.
- In a typically developing child with a first, unprovoked seizure whose EEG and MRI are normal, the recurrence risk is as low as 25%.
A
Recurrence risk of seizures
- 25-45% seizure recurrence risk
- 40-50% of adults and children with a first, unprovoked seizure will have a recurrent seizure.
- In a typically developing child with a first, unprovoked seizure whose EEG and MRI are normal, the recurrence risk is as low as 25%.
39
Q
Restrictions
- Rule about driving vary among states, but in general, if a pt has been seizure-free for over a year, even if they still take antiepileptic medications, they can drive a vehicle.
- Participation in sports is, for the most part, unrestricted as well, particularly in pts with well-controlled seizures
- Even contact sports have been shown to be as safe for epileptics as for the general population.
- Notable exceptions include boxing (AAP strongly opposes boxing in all children), SCUBA diving (in which seizure will likely cause death), high-speed motor sports, hang-gliding, and other activities in which the occurrence of a seizure (no matter how remote the possibility), will result in serious injury or death to the pt or a bystander.
A
Restrictions
- Rule about driving vary among states, but in general, if a pt has been seizure-free for over a year, even if they still take antiepileptic medications, they can drive a vehicle.
- Participation in sports is, for the most part, unrestricted as well, particularly in pts with well-controlled seizures
- Even contact sports have been shown to be as safe for epileptics as for the general population.
- Notable exceptions include boxing (AAP strongly opposes boxing in all children), SCUBA diving (in which seizure will likely cause death), high-speed motor sports, hang-gliding, and other activities in which the occurrence of a seizure (no matter how remote the possibility), will result in serious injury or death to the pt or a bystander.
40
Q
STATUS EPILEPTICUS (SE) = prolonged seizure lasting greater than 5 mins or recurrent seizures lasting longer than 5 mins without interval return to full consciousness
- Can tell if out of seizure by seeing if they respond to pain or other stimulation
- If has deviated gaze that cannot be changed, consider nonconvulsive status epilepticus
- 1st: _____ preferred IV/IM/IO 0.05-0.1mg/kg/dose (max 4mg/dose) over 1 min. Or IV _____ 0.2mg/kg IV (max 8mg/dose). IM ______ 0.2mg/kg (max 10mg).
- 2nd: If seizure has not stopped after at least 2 dosed trials of benzo, 2nd line should be used, most commonly ______ 20mg/kg per dose (max 1500mg). Or ______ 60mg/kg single dose (max 4,500mg/dose). If still seizing, _____ 20mg/kg (max 1000mg) (valproic acid/Depakote).
- 3rd: _____ 20mg/kg IV
- 4th: Continuous midazolam infusion, propofol infusion, or pentobarbital infusion (bolus dose 5-10mg/kg)
A
STATUS EPILEPTICUS (SE) = prolonged seizure lasting greater than 5 mins or recurrent seizures lasting longer than 5 mins without interval return to full consciousness
- Can tell if out of seizure by seeing if they respond to pain or other stimulation
- If has deviated gaze that cannot be changed, consider nonconvulsive status epilepticus
- 1st: Lorazepam/Ativan preferred IV/IM/IO 0.05-0.1mg/kg/dose (max 4mg/dose) over 1 min. Or IV diazepam 0.2mg/kg IV (max 8mg/dose). IM midazolam 0.2mg/kg (max 10mg).
- 2nd: If seizure has not stopped after at least 2 dosed trials of benzo, 2nd line should be used, most commonly fosphenytoin/Cerebyx 20mg/kg per dose (max 1500mg). Or levetiracetam/Keppra 60mg/kg single dose (max 4,500mg/dose). If still seizing, phenobarbital/Luminal 20mg/kg (max 1000mg) (valproic acid/Depakote).
- 3rd: Phenobarbital 20mg/kg IV
- 4th: Continuous midazolam infusion, propofol infusion, or pentobarbital infusion (bolus dose 5-10mg/kg)
