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
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
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
Cerebral Vein Thrombosis
- In neonates, seizures are the most common clinical presentation
- For older children, headache and vomiting are most frequent
Cerebral Vein Thrombosis
- In neonates, seizures are the most common clinical presentation
- For older children, headache and vomiting are most frequent
27
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
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
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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: ____
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.
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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.
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.
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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.
- 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.
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.
- 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.
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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.
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.
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```
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.
```
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.
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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.
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.
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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
- Simple febrile seizures do NOT damage the brain.
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
- Simple febrile seizures do NOT damage the brain.
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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
- 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.
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
- 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.
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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.
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.
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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.
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.
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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%.
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%.
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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.
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.
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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)
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)
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Tonic-Clonic Seizures (Grand Mal Seizures)
- Pt:
- Tonic phase occurs first with LOC: Sustained contractions of entire musculature, eye deviate conjugately upward
- Clonic phase: Rhythmic muscle jerk
Tonic-Clonic Seizures (Grand Mal Seizures)
- Pt:
- Tonic phase occurs first with LOC: Sustained contractions of entire musculature, eye deviate conjugately upward
- Clonic phase: Rhythmic muscle jerk
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Myoclonic Seizures
- Characteristics:
- Short duration
- Rapid muscle contractions, often in 1 limb
Tonic-Clonic Seizures (Grand Mal Seizures)
- Pt:
- Tonic phase occurs first with LOC: Sustained contractions of entire musculature, eye deviate conjugately upward
- Clonic phase: Rhythmic muscle jerk
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Juvenile myoclonic epilepsy (JME)
- Subtype of idiopathic ____ epilepsy
- Pt:
- Starts in adolescence (developmentally normal teenagers) with
- (1) _______
- (2) ______
- Normal intelligence
- Family hx of similar seizures
- Dx: EEG pattern of ______ spike
- Tx: ______ is 1st line.
- If valproate is contraindicated or undesirable (esp in prepubertal girls due to increased risk of neural tube defects if pregnancy occurs), levetiracetam or lamotrigine are alternative 1st line options.
- Prognosis: Unlike many other childhood epilepsy syndromes, juvenile myoclonic epilepsy is typically a _____ condition
Juvenile myoclonic epilepsy (JME)
- Subtype of idiopathic generalized epilepsy
- Pt:
- Starts in adolescence (developmentally normal teenagers) with
- (1) myoclonic jerks of UE on awakening in the morning (often with dropping of items in hands)
- (2) generalized tonic-clonic seizures just after awakening or during sleep
- Normal intelligence
- Family hx of similar seizures
- Dx: EEG pattern of 4-6 Hz generalized spike
- Tx: Valproate is 1st line.
- If valproate is contraindicated or undesirable (esp in prepubertal girls due to increased risk of neural tube defects if pregnancy occurs), levetiracetam or lamotrigine are alternative 1st line options.
- Prognosis: Unlike many other childhood epilepsy syndromes, juvenile myoclonic epilepsy is typically a lifelong condition
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Benign infantile myoclonic epilepsy
- Begin around ___mo, spontaneous remission at __yo
- Myoclonus, spasm with brief tonic contractions, shuddering or atonia, frequently occurring at mealtime between 3-8mo of age.
Benign infantile myoclonic epilepsy
- Begin around 6mo, spontaneous remission at 2-3yo
- Myoclonus, spasm with brief tonic contractions, shuddering or atonia, frequently occurring at mealtime between 3-8mo of age.
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Absence seizures
- Dx: EEG with _____ spike and wave pattern
- Tx: _____ (next valproate or lamotrigine)
- Comorbidity of ____
Absence seizures
- Dx: EEG with 3-4 Hz generalized spike and wave pattern
- Tx: Ethosuximide (next valproate or lamotrigine)
- Comorbidity of ADHD
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Atonic or Akinetic Seizures (Epileptic Drop Attacks)
- Without warning, sudden or complete loss of tone in the limbs, neck, and trunk muscles
- More common in children with epileptic encephalopathies (Lennox-Gastaut syndrome) and are frequently difficult to treat
Atonic or Akinetic Seizures (Epileptic Drop Attacks)
- Without warning, sudden or complete loss of tone in the limbs, neck, and trunk muscles
- More common in children with epileptic encephalopathies (Lennox-Gastaut syndrome) and are frequently difficult to treat
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Focal (Partial) Seizures
| - Tx: Drugs of choice are ____, _____, ____. _____ is approved as adjunctive therapy in children >4yo.
Focal (Partial) Seizures
- Tx: Drugs of choice are carbamazepine (all ages), oxcarbazepine, phenytoin. Levetiracetam is approved as adjunctive therapy in children >4yo.
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1st afebrile, unprovoked, FOCAL seizure
| - Initial work-up for a 1st time FOCAL seizure should include a ____ and ____
1st afebrile, unprovoked, FOCAL seizure
| - Initial work-up for a 1st time FOCAL seizure should include a routine EEG (not 24h) and an MRI of the brain
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Simple Partial Seizure / Focal seizures without impairment of consciousness
- Seizures in which patients can still interact with their environment without LOC
- Focal seizures are sometimes followed by Todd paralysis, a transient paralysis of the affected body part lasting minutes-hours.
Simple Partial Seizure / Focal seizures without impairment of consciousness
- Seizures in which patients can still interact with their environment without LOC
- Focal seizures are sometimes followed by Todd paralysis, a transient paralysis of the affected body part lasting minutes-hours.
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Complex Partial Seizures / Focal seizures with impair consciousness
- Pt: Variable symptoms but usually include alterations in consciousness, unresponsiveness, and automatisms.
Complex Partial Seizures / Focal seizures with impair consciousness
- Pt: Variable symptoms but usually include alterations in consciousness, unresponsiveness, and automatisms.
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Benign Rolandic Epilepsy of Childhood (Benign Epilepsy with Centrotemporal Spikes) (BECTS)
- Most common focal epilepsy
- Pt: ______
- Seizures are brief and self-limiting, typically involving unilateral sensory involvement of the face, movements of the tongue, jaw, hypersalivation, and possibly speech arrest without LOC.
- Many have speech difficulty during and after the seizure, despite apparently preserved cognition.
- Drooling is prominent
- EEG shows _____spikes
- Management
- Most children outgrow within 2 years or at the latest by puberty. Therefore, in many cases, anticonvulsants are not needed.
- Anticonvulsants used to treat focal seizures in BRE most typically with _____.
Benign Rolandic Epilepsy of Childhood (Benign Epilepsy with Centrotemporal Spikes) (BECTS)
- Most common focal epilepsy
- Pt: Focal hemifacial or extremity seizures shortly after going to sleep or just before or after waking up.
- Seizures are brief and self-limiting, typically involving unilateral sensory involvement of the face, movements of the tongue, jaw, hypersalivation, and possibly speech arrest without LOC.
- Many have speech difficulty during and after the seizure, despite apparently preserved cognition.
- Drooling is prominent
- EEG shows bilateral perirolandic (centrotemporal) spikes
- Management
- Most children outgrow within 2 years or at the latest by puberty. Therefore, in many cases, anticonvulsants are not needed.
- Anticonvulsants used to treat focal seizures in BRE most typically with oxcarbazepine.
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Infantile Spasms
- Unique type of seizure occurring in infants and children <1 year of age.
- _______ is cause for up to 30% of cases
- Pt:
- Classic spasm is the "_____” flexor spasms. Children have sudden, simultaneous flexion of neck and trunk, with flexion and adduction of extremities.
- Evaluation:
- Abnormal EEG with ____: High-voltage, irregular, slow waves that occur out of sync and randomly over all head regions are intermixed with spikes from multiple foci
- Tx:
- 2 most efficacious treatments are IM ___ and oral ____.
- ACTH (Corticotropin)
- Main adverse effects of ACTH include HTN (most common), irritability, and infection
- In setting of tuberous sclerosis, tx is usually with anticonvulsant ____. Black box warning of permanent _____ deficits.
- Prognosis
- Resolve over time without specific therapy; however, most surviving children have severe intellectual disability and other types of seizure disorders (most typically Lennox-Gastaut syndrome).
Infantile Spasms
- Unique type of seizure occurring in infants and children <1 year of age.
- Tuberous sclerosis is cause for up to 30% of cases
- Pt:
- Classic spasm is the “jackknife” flexor spasms. Children have sudden, simultaneous flexion of neck and trunk, with flexion and adduction of extremities.
- Evaluation:
- Abnormal EEG with hypsarrhythmia: High-voltage, irregular, slow waves that occur out of sync and randomly over all head regions are intermixed with spikes from multiple foci
- Tx:
- 2 most efficacious treatments are IM ACTH and oral vigabatrin.
- ACTH (Corticotropin)
- Main adverse effects of ACTH include HTN (most common), irritability, and infection
- In setting of tuberous sclerosis, tx is usually with anticonvulsant vigabatrin. Vigabatrin a black box warning of permanent visual field deficits.
- Prognosis
- Resolve over time without specific therapy; however, most surviving children have severe intellectual disability and other types of seizure disorders (most typically Lennox-Gastaut syndrome).
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West syndrome
| - Triad of infantile spasms, intellectual disability, and hypsarrhythmia
West syndrome
| - Triad of infantile spasms, intellectual disability, and hypsarrhythmia
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Lennox-Gastaut Syndrome
- ____, ___ and ____
- Path: No specific etiology.
- 25-40% have a hx of infantile spasms
- Pt:
- Seizures begin in the first 3 years of life and are refractory to medications.
- Most children have >=2 different kinds of seizures on a daily basis.
- EEG has ______
- Tx:
- Drug therapy is empiric at best, with valproate, lamotrigine, felbamate, and topiramate available.
- Rufinamide (Banzel) and clobazam (Onfi) are approved as adjunctive therapy in those >4 years and >2 years old, respectively
- Prognosis: Poor, with most children having seizures into adulthood
Lennox-Gastaut Syndrome
- Severe seizures, intellectual disability and characteristic EEG pattern.
- Path: No specific etiology.
- 25-40% have a hx of infantile spasms
- Pt:
- Seizures begin in the first 3 years of life and are refractory to medications.
- Most children have >2 different kinds of seizures on a daily basis.
- EEG has generalized, bilaterally synchronous, sharp- and slow-wave complexes, occurring in a repetitive fashion in long runs at 1.5-2.5 Hz (“slow spike and wave”)
- Tx:
- Drug therapy is empiric at best, with valproate, lamotrigine, felbamate, and topiramate available.
- Rufinamide (Banzel) and clobazam (Onfi) are approved as adjunctive therapy in those >4 years and >2 years old, respectively
- Prognosis: Poor, with most children having seizures into adulthood
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Acquired Epileptic Aphasia (Landau-Kleffner Syndrome)
- Previously healthy child presents with acute or intermittent episodes of ______
- EEG shows slowing and high-voltage seizure activity
- Thus, sleep EEG is important to diagnose this condition
- Antiseizure drugs have little effect; some are treated with corticosteroids. About ⅔ of children have residual language deficit.
Acquired Epileptic Aphasia (Landau-Kleffner Syndrome)
- Previously healthy child presents with acute or intermittent episodes of losing acquired language skills.
- EEG shows slowing and high-voltage seizure activity
- Thus, sleep EEG is important to diagnose this condition
- Antiseizure drugs have little effect; some are treated with corticosteroids. About ⅔ of children have residual language deficit.
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Rasmussen Syndrome
- Many believe to be an immunologic process involving only 1 hemisphere of the brain.
- Initially seizures are generalized but become focus, unremitting, and limited to 1 part of side of the body. Eventually, hemiparesis, diminished intelligence, and hemianopia occur. Disease is not fatal but deteriorates to a stable often devastating neurologic deficit
- Tx:
- Medical therapy is disappointing, esp antiseizure med
- A modified hemispherectomy or focal cortical excision usually improve symptoms markedly and is the recommended tx
Rasmussen Syndrome
- Many believe to be an immunologic process involving only 1 hemisphere of the brain.
- Initially seizures are generalized but become focus, unremitting, and limited to 1 part of side of the body. Eventually, hemiparesis, diminished intelligence, and hemianopia occur. Disease is not fatal but deteriorates to a stable often devastating neurologic deficit
- Tx:
- Medical therapy is disappointing, esp antiseizure med
- A modified hemispherectomy or focal cortical excision usually improve symptoms markedly and is the recommended tx
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Gelastic Seizure
- Present as pathologic (often mechanical and mirthless) laughter without an appropriate reason for laughing.
- Found in pts with hypothalamic hamartomas.
Gelastic Seizure
- Present as pathologic (often mechanical and mirthless) laughter without an appropriate reason for laughing.
- Found in pts with hypothalamic hamartomas.
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MEDICATIONS
- Preferred drugs
- Idiopathic generalized tonic-clonic seizures: ____; ___ in infants; ____ is contraindicated
- Absence seizures : _____
- Focal and secondary generalized seizures: ____
- Focal seizures with impaired consciousness: ____
- >1 type of seizure: _____
- Anticonvulsant medication is an indication for ____ screening: level should be checked annually and maintained in the normal range.
MEDICATIONS
- Preferred drugs
- Idiopathic generalized tonic-clonic seizures: Valproate or levetiracetam is indicated if spike and wave pattern is seen on EEG; phenobarbital in infants; carbamazepine is contraindicated
- Absence seizures : Ethosuximide or valproate
- Focal and secondary generalized seizures: Oxcarbazepine or carbamazepine
- Focal seizures with impaired consciousness: Oxcarbazepine or carbamazepine
- >1 type of seizure: Valproate, levetiracetam, or lamotrigine
- Anticonvulsant medication is an indication for vitamin D deficiency screening: 25 hydroxyvitamin D level should be checked annually and maintained in the normal range.
59
1ST GENERATION anticonvulsants: carbamazepine, ethosuximide, phenobarbital, phenytoin, primidone, and valproic acid
- Many 1st generation antiepileptic medications induce liver enzymes (eg phenytoin, carbamazepine), which can decrease levels of concomitantly administered medications (esp chemotherapeutic agents). In girls who take birth controls, enzyme induction tends to result in contraceptive failure. On the other hand, _____ is a liver enzyme inhibitor.
1ST GENERATION anticonvulsants: carbamazepine, ethosuximide, phenobarbital, phenytoin, primidone, and valproic acid
- Many 1st generation antiepileptic medications induce liver enzymes (eg phenytoin, carbamazepine), which can decrease levels of concomitantly administered medications (esp chemotherapeutic agents). In girls who take birth controls, enzyme induction tends to result in contraceptive failure. On the other hand, valproate is a liver enzyme inhibitor.
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Valproate (Valproic acid/depakote)
- Use: Generalized tonic-clonic, absence
- Side effects:
- More common side effects: Weight gain, hair loss, hyperammonemia, dose-related thrombocytopenia (ass with viral infections).
- Increased risk of severe valproate-associated hepatotoxicity in children <3 yo who have underlying metabolic disorders
- If not possible to use another drug for <3yo, do a metabolic screen before starting valproate and follow with liver function tests after starting it.
- Highest risk of _____.
- Antiepileptic drugs are a class of drugs known to cause sedation as well as cognitive slowing. Valproic acid has significant cognitive impact
- V
- A
- L
- P
- R
- O
- A
- T
- E
Valproate (Valproic acid/depakote)
- Use: Generalized tonic-clonic, absence
- Side effects:
- More common side effects: Weight gain, hair loss, hyperammonemia, dose-related thrombocytopenia (ass with viral infections).
- Increased risk of severe valproate-associated hepatotoxicity in children <3 yo who have underlying metabolic disorders
- If not possible to use another drug for <3yo, do a metabolic screen before starting valproate and follow with liver function tests after starting it.
- Highest risk of NTD. Increased risk of teratogenicity (esp with respect to risk of neural tube defects).
- Antiepileptic drugs are a class of drugs known to cause sedation as well as cognitive slowing. Valproic acid has significant cognitive impact
- Vomiting
- Alopecia/Ammonemia
- Liver toxicity
- Pancreatitis/Pancytopenia
- Retain fat (weight gain)
- Oedema (Edema)
- Appetite increase
- Tremor/Teratogen
- Enzyme inhibitor (P450)
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Carbamazepine
- Use: Focal seizures. Avoid in absence and other generalized epilepsies bc can precipitate convulsions.
- Serious but rare side effects: ___ and ____. ____ with side effect of ___.
- ____ cytochrome P450
- Avoid erythromycin bc it elevates carbamazepine levels.
Carbamazepine
- Use: Focal seizures. Avoid in absence and other generalized epilepsies bc can precipitate convulsions.
- Serious but rare side effects: Leukopenia and hepatotoxicity. SIADH with side effect of hyponatremia.
- Induce cytochrome P450
- Avoid erythromycin bc it elevates carbamazepine levels.
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Phenytoin
- Uses: Works best for focal seizures. Important role in management of status epilepticus.
- Typically not used in children due to ____ kinetic metabolism (constant rate of drug elimination regardless of concentration)
- ______ is preferred bc can be infused at faster rate due to the lower pH of fosphenytoin compared to phenytoin (pH 11), which can then reach therapeutic levels more quickly (risk of ____ syndrome).
- Side effects
- _____, ____, ___, skin rash, ____
- ____
- Cytochrome P450 ___. _____
- Pts can develop acute ataxia either from high dose of IV fosphenytoin or phenytoin or in the setting of fosphenytoin toxicity.
Phenytoin
- Uses: Works best for focal seizures. Important role in management of status epilepticus.
- Typically not used in children due to zero-order kinetic metabolism (constant rate of drug elimination regardless of concentration)
- Fosphenytoin is preferred over phenytoin bc fosphenytoin can be infused at faster rate due to the lower pH of fosphenytoin compared to phenytoin (pH 11), which can then reach therapeutic levels more quickly (risk of purple glove syndrome).
- Side effects
- Hirsutism, gum hypertrophy, ataxia, skin rash, Steven-Johnson syndrome
- Cardiac arrhythmias
- Cytochrome P450 inducer. Teratogen
- Pts can develop acute ataxia either from high dose of IV fosphenytoin or phenytoin or in the setting of fosphenytoin toxicity.
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Ethosuximide
- DOC for absence seizures
- Side effects: Abdominal pain/GI upset, Stevens-Johnson syndrome
Ethosuximide
- DOC for absence seizures
- Side effects: Abdominal pain/GI upset, Stevens-Johnson syndrome
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Phenobarbital (Luminal)
- Steady state serum drug levels are achieved in about 5 half-lives
- Most commonly used in______. Do not use in older children because many patients have severe _____ while on drug. Is typically very sedating.
Phenobarbital (Luminal)
- Steady state serum drug levels are achieved in about 5 half-lives
- Most commonly used in neonates and infants. Do not use in older children because many patients have severe behavioral changes or impairment of cognition while on drug. Is typically very sedating.
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Lamotrigine (Lamictal)
| - Black box warning for ________
Lamotrigine (Lamictal)
| - Black box warning for Steven Johnson syndrome
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Levetiracetam (Keppra)
| - Except for______ in ~10% of patients, it is reasonably well tolerated.
Levetiracetam (Keppra)
- Except for behavioral adverse effects (eg irritability, aggression) in ~10% of patients, it is reasonably well tolerated.
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Topiramate (Topamax)
| - Advise caution for children with a hx of _____
Topiramate (Topamax)
| - Advise caution for children with a hx of kidney stones
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When do you order a CT or MRI for a child with a headache?
- Occipital headaches (Rare in children and usually have a structural cause)
- Unexplained academic decline or behavioral changes
- Abnormal neurologic signs
- Fall-off in growth
- Headache that awakens the child from sleep
- Early morning headaches with increase in frequency and severity
- Headache with focal seizure
- Papilledema
- Migraine headache, followed by a seizure
- Headache with vomiting in the absence of a family hx of migraine
- Cluster headaches
- Any child <3yo with chief complaint of headache
- Brief coughing episode resulting in headache
- Increasing or “crescendo” headaches
- Persistent focal headaches
- Increase in head circumference
- Increase in severity of headache with Valsalva maneuver
When do you order a CT or MRI for a child with a headache?
- Occipital headaches (Rare in children and usually have a structural cause)
- Unexplained academic decline or behavioral changes
- Abnormal neurologic signs
- Fall-off in growth
- Headache that awakens the child from sleep
- Early morning headaches with increase in frequency and severity
- Headache with focal seizure
- Papilledema
- Migraine headache, followed by a seizure
- Headache with vomiting in the absence of a family hx of migraine
- Cluster headaches
- Any child <3yo with chief complaint of headache
- Brief coughing episode resulting in headache
- Increasing or “crescendo” headaches
- Persistent focal headaches
- Increase in head circumference
- Increase in severity of headache with Valsalva maneuver
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Tension: Dull, nonpulsating tightness of head or neck; no nausea or vomiting
Migraine: Severe, pulsating, throbbing, scotomas, sensitivity to light and noise, nausea, and vomiting
Cluster: Series of relatively short, highly painful, strictly unilateral headaches occurring in clusters of >5 from 1-5x/day; uncommon in children <10 yo; sharp, stabbing
Tension: Dull, nonpulsating tightness of head or neck; no nausea or vomiting
Migraine: Severe, pulsating, throbbing, scotomas, sensitivity to light and noise, nausea, and vomiting
Cluster: Series of relatively short, highly painful, strictly unilateral headaches occurring in clusters of >5 from 1-5x/day; uncommon in children <10 yo; sharp, stabbing
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Tension (Stress) Headache
- Pt:
- They present as a pressing, dull, persistent tightness, often described as a band around the head.
- Generally less intense when compared to a migraine.
- Nausea and vomiting are uncommon
- Diagnostic criteria:
- At least 10 episodes of headache occurring on <1 day/month on average (<12 days per year) and fulfilling the following criteria:
- Lasting from _____ mins-7 days
- At least 2 of the 4 characteristics:
- 1) _____ location
- 2) _____ quality
- 3) Mild or moderate intensity
- 4) Not aggravated by _____
- Both of the following: No _____ and no more than 1 of _____
- Not better accounted for by another diagnosis
Tension (Stress) Headache
- Pt:
- They present as a pressing, dull, persistent tightness, often described as a band around the head.
- Generally less intense when compared to a migraine.
- Nausea and vomiting are uncommon
- Diagnostic criteria:
- At least 10 episodes of headache occurring on <1 day/month on average (<12 days per year) and fulfilling the following criteria:
- Lasting from 30 mins-7 days
- At least 2 of the 4 characteristics:
- 1) Bilateral location
- 2) Pressing or tightening (nonpulsating) quality
- 3) Mild or moderate intensity
- 4) Not aggravated by routine physical activity such as walking or climbing stairs
- Both of the following: No nausea or vomiting and no more than 1 of photophobia or phonophobia
- Not better accounted for by another diagnosis
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Cluster Headache
- Pt:
- Pain is strictly ______, severe (described as an “ice pick” or “hot poker”), and is supraorbital, retroorbital, or temporal in location.
- In contrast to migraines, individuals with cluster headaches are ______. Also, unlike migraines, _____ (ptosis, miosis, lacrimation, eye redness, rhinorrhea, and congestion) typically occur
- Tx:
- Best treatment is _____.
- ______, including IN spray, are also effective
- Ppx:
- ______ is the DOC
Cluster Headache
- Pt:
- Pain is strictly unilateral, severe (described as an “ice pick” or “hot poker”), and is supraorbital, retroorbital, or temporal in location.
- In contrast to migraines, individuals with cluster headaches are restless, move constantly, or rock back and forth with pain. Also, unlike migraines, ipsilateral autonomic symptoms (ptosis, miosis, lacrimation, eye redness, rhinorrhea, and congestion) typically occur
- Tx:
- Best treatment is oxygen.
- Triptans (sumatriptan), including IN spray, are also effective
- Ppx:
- Verapamil is the DOC
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Migraines
- Pt: Associated symptoms include nausea, vomiting, phonophobia, photophobia, and sometimes an aura.
- Dx:
- Migraine without aura: At least 5 episodes with these criteria:
- Headache lasting ____-72 hours
- At least 2 of the following 4 characteristics:
- 1) Unilateral or bilateral ____
- 2) _____
- 3) Moderate-severe intensity
- 4) Aggravated by _____
- During the headache, at least one of the following:
- 1) _____
- 2) _____
- Not attributable to anything else
- Migraine with aura: At least 2 episodes with these criteria:
- At least 3 of the following 6 characteristics:
- Gradual development of at least 1 aura symptom over >5 minutes
- 2 or more symptoms occur in succession
- Aura present <1 hour
- At least 1 aura symptom is positive
- Headache within 1 hour of aura
- Aura consisting of at least 1 of the following fully reversible aura symptoms:
- Visual symptoms
- Sensory symptoms
- Speech disturbances
- Motor
- Brainstem
- Retinal
- Not attributable to anything else
Migraines
- Pt: Associated symptoms include nausea, vomiting, phonophobia, photophobia, and sometimes an aura.
- Dx:
- Migraine without aura: At least 5 episodes with these criteria:
- Headache lasting 2-72 hours
- At least 2 of the following 4 characteristics:
- 1) Unilateral or bilateral frontotemporal
- 2) Pulsating
- 3) Moderate-severe intensity
- 4) Aggravated by routine physical activity
- During the headache, at least one of the following:
- 1) Nausea or vomiting
- 2) Photophobia or phonophobia
- Not attributable to anything else
- Migraine with aura: At least 2 episodes with these criteria:
- At least 3 of the following 6 characteristics:
- Gradual development of at least 1 aura symptom over >5 minutes
- 2 or more symptoms occur in succession
- Aura present <1 hour
- At least 1 aura symptom is positive
- Headache within 1 hour of aura
- Aura consisting of at least 1 of the following fully reversible aura symptoms:
- Visual symptoms
- Sensory symptoms
- Speech disturbances
- Motor
- Brainstem
- Retinal
- Not attributable to anything else
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Migraine
- Ppx:
- 1) Lifestyle changes provides the foundation for treatment.
- 2) Abortive management:
- “Migraine cocktail”: ____, ____, ____, IV _____
- Acetaminophen or ibuprofen for acute pain
- _____
- Almotriptan is approved for migraine pain 12-17yo
- Nasal sumatriptan is recommended in adolescents >18yo.
- 3) Prevention Medications: For frequent headaches. Prophylactic treatments are indicated if headaches 2-3x/week or prolonged/debilitating
- Clinical trials have failed to consistently demonstrate the efficacy of common preventive medications over placebo in pediatric migraine management.
- Antiepileptics (topiramate, valproate, gabapentin)
- ____ is approved by FDA for prevention of migraines in children 12-17 yo. May also help with weight loss.
- Antihistamines:
- _____ (serotonin agonist)
- Antidepressants:
- ____
- Antihypertensives:
- ____
- _____
Migraine
- Ppx:
- 1) Lifestyle changes provides the foundation for treatment.
- 2) Abortive management:
- “Migraine cocktail”: Benadryl, IVF bolus, antiemetic (Reglan/Metoclopramide, Compazine/prochlorperazine), IV ketorolac or DHE
- Acetaminophen or ibuprofen for acute pain
- Triptans
- Almotriptan is approved for migraine pain 12-17yo
- Nasal sumatriptan is recommended in adolescents >18yo.
- 3) Prevention Medications: For frequent headaches. Prophylactic treatments are indicated if headaches 2-3x/week or prolonged/debilitating
- Clinical trials have failed to consistently demonstrate the efficacy of common preventive medications over placebo in pediatric migraine management.
- Antiepileptics (topiramate, valproate, gabapentin)
- Topiramate is approved by FDA for prevention of migraines in children 12-17 yo. Topiramate may also help with weight loss.
- Antihistamines:
- Cyproheptadine (serotonin agonist)
- Antidepressants:
- TCAs- amitriptyline
- Antihypertensives:
- Verapamil- CCBs
- Beta blockers- Propranolol
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Increased Cerebral Pressure
- Dx: Increased ICP is best diagnosed with direct measurement of opening pressure on a lumbar puncture
- It is prudent to obtain head imaging (ie CT) prior to the LP
Increased Cerebral Pressure
- Dx: Increased ICP is best diagnosed with direct measurement of opening pressure on a lumbar puncture
- It is prudent to obtain head imaging (ie CT) prior to the LP
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Papilledema
- Edematous blurring of the disc margins. Loss of spontaneous venous pulsation
- If the MRI is normal, evaluate opening pressure and spinal fluid with a lumbar puncture.
- Management:
- Neurologic emergency. Should be managed in ER setting
Papilledema
- Edematous blurring of the disc margins. Loss of spontaneous venous pulsation
- If the MRI is normal, evaluate opening pressure and spinal fluid with a lumbar puncture.
- Management:
- Neurologic emergency. Should be managed in ER setting
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Pseudotumor Cerebri “Idiopathic intracranial hypertension”
- Elevated intracranial pressure that occurs in the absence of a primary cause.
- RF: Obesity (esp with recent weight gain), female sex, medications (isotretinoin, doxycycline, tetracycyline, minocycline, GH), hypervitaminosis A, contraceptive use, systemic diseases (Addison disease, sleep apnea, lupus)
- Pt:
- Can be similar to migraine headaches.
- R cranial nerve 6 palsy (lateral rectus muscle, cannot abduct eye) is a sign of increased ICP
- In advanced cases, there can be restriction of visual fields, leading to tunnel vision.
- Hallmark sign is ______ on fundoscopic exam
- Work-up
- Next best management step is brain imaging to evaluate for other causes of increased ICP. This typically includes ____ of brain and MR venography (MRV) to rule out other etiologies of ICP
- Even when suspicion for pseudotumor cerebri is high, brain imaging should be performed before the LP
- If the MRI is negative, do a _____ to detect elevated opening pressure, which is essential to the diagnosis.
- Normal CSF opening pressure in pediatric pts is_____ cm H2O.
- Dx: Diagnosed by physical exam, MRI, and lumbar puncture with opening pressure.
- Diagnosis is made when all of the following modified Dandy criteria are met:
- Signs and symptoms of increased ICP (headaches, vision loss, and/or papilledema)
- No abnormal neurological findings on exam (except visual field and oculomotor findings; “falsely” localizing signs such as abducens or facial nerve palsy)
- Increased intracranial pressure (>____mmH2O) in the lateral decubitus position with legs extended with normal CSF composition
- No etiology found on imaging study (absence of intracranial mass, hydrocephalus, and cerebral venous thrombosis)
- No other cause found for increased ICP
- Tx:
- 1st step is to stop any medication that may be causing it. Treat underlying diseases
- A medication to decrease CSF production should be prescribed, as well as a weight loss program, if appropriate.
- Treat with carbonic anhydrase inhibitors, diuretics, and migraine medications
- ________ and _____ are most commonly prescribed in this situation, though these are off-label uses.
- "Med of choice" causes ____ and a decrease in ______
Pseudotumor Cerebri “Idiopathic intracranial hypertension”
- Elevated intracranial pressure that occurs in the absence of a primary cause.
- RF: Obesity (esp with recent weight gain), female sex, medications (isotretinoin, doxycycline, tetracycyline, minocycline, GH), hypervitaminosis A, contraceptive use, systemic diseases (Addison disease, sleep apnea, lupus)
- Pt:
- Can be similar to migraine headaches.
- R cranial nerve 6 palsy (lateral rectus muscle, cannot abduct eye) is a sign of increased ICP
- In advanced cases, there can be restriction of visual fields, leading to tunnel vision.
- Hallmark sign is Papilledema on fundoscopic exam
- Work-up
- Next best management step is brain imaging to evaluate for other causes of increased ICP. This typically includes MRI of brain and MR venography (MRV) to rule out other etiologies of ICP
- Even when suspicion for pseudotumor cerebri is high, brain imaging should be performed before the LP
- If the MRI is negative, do a LP to detect elevated opening pressure, which is essential to the diagnosis.
- Normal CSF opening pressure in pediatric pts is 10-28cm H2O.
- Dx: Diagnosed by physical exam, MRI, and lumbar puncture with opening pressure.
- Diagnosis is made when all of the following modified Dandy criteria are met:
- Signs and symptoms of increased ICP (headaches, vision loss, and/or papilledema)
- No abnormal neurological findings on exam (except visual field and oculomotor findings; “falsely” localizing signs such as abducens or facial nerve palsy)
- Increased intracranial pressure (>250mmH2O) in the lateral decubitus position with legs extended with normal CSF composition
- No etiology found on imaging study (absence of intracranial mass, hydrocephalus, and cerebral venous thrombosis)
- No other cause found for increased ICP
- Tx:
- 1st step is to stop any medication that may be causing it. Treat underlying diseases
- A medication to decrease CSF production should be prescribed, as well as a weight loss program, if appropriate.
- Treat with carbonic anhydrase inhibitors, diuretics, and migraine medications
- Acetazolamide and topiramate are most commonly prescribed in this situation, though these are off-label uses.
- Acetazolamide causes metabolic acidosis and a decrease in potassium (hypokalemia), sodium, bicarb.
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Upper motor neuron symptoms
| - Pt: Includes weakness, ___tonia, clonus, spasticity, __reflexia, and a _____ Babinski sign.
Upper motor neuron symptoms
| - Pt: Includes weakness, hypertonia, clonus, spasticity, hyperreflexia, and a positive Babinski sign.
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Lower motor neuron
- Pt: Tend to affect small groups of muscles and include weakness, muscle atrophy, fa___, fi___, ____tonia, and hyporeflexia.
Lower motor neuron
- Pt: Tend to affect small groups of muscles and include weakness, muscle atrophy, fasciculations, fibrillations, hypotonia, and hyporeflexia.
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Charcot-Marie-Tooth Disease
- Pt:
- Progressive distal ____.
- Classic “_____” deformity results from distal calf muscle atrophy, and _____are lost
- Tx: Supportive
Charcot-Marie-Tooth Disease
- Pt:
- Progressive distal ascending weakness.
- Classic “stork leg” deformity results from distal calf muscle atrophy, and deep tendon reflexes are lost
- Tx: Supportive
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Spinal muscular atrophy
- 2nd most ______. (Cystic fibrosis is the most common)
- ____Inheritance?? disorder
- Path: Mutation in _____ gene on chromosome ____
- Pt:
- Loss of anterior horn motor neurons, resulting in muscle wasting, hypotonia, and weakness.
- Muscle weakness is symmetric beginning ____ then moving ____,
- ________ are seen in most children, which is a defining physical exam finding not commonly seen in ped neuromuscular disorders
- Dx:
- _____ confirms dysfunction of motor nerves
- _____ showing deletion in SMN1
- Tx:
- In 2016, the FDA approved the use of intrathecal _____ (Spinraza, given IT through spinal port), an antisense oligonucleotide drug, for treatment of SMA.
Spinal muscular atrophy
- 2nd most common lethal AR disorder. (Cystic fibrosis is the most common)
- AR disorder affecting 5q13; there is one X-linked form of SMA.
- Path: Mutation in survival motor neuron 1 (SMN1) gene on chromosome 5q13
- Pt:
- Loss of anterior horn motor neurons, resulting in muscle wasting, hypotonia, and weakness.
- Muscle weakness is symmetric beginning proximally then moving distally, proximal muscles affected to a greater degree.
- Tongue fasciculations are seen in most children, which is a defining physical exam finding not commonly seen in ped neuromuscular disorders
- Dx:
- Electromyography/nerve conduction study confirms dysfunction of motor nerves
- Genetic testing showing deletion in SMN1
- Tx:
- In 2016, the FDA approved the use of intrathecal nusinersen (Spinraza, given IT through spinal port), an antisense oligonucleotide drug, for treatment of SMA.
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- SMA type I (_____ disease, or severe ____ SMA)
- Is the most severe and presents in infancy <6mo with the symptoms of flaccid paralysis, hypotonia and weakness, absent deep tendon reflexes, preserved cranial nerves, tongue fasciculations, weak cry, poor feeding
- These infants never ______.
- Paradoxical breathing (retraction of chest wall on inspiration) with progression to respiratory failure. Pts generally die in the 1st year of life
- SMA type I (Werdnig-Hoffman disease, or severe infantile SMA)
- Is the most severe and presents in infancy <6mo with the symptoms of flaccid paralysis, hypotonia and weakness, absent deep tendon reflexes, preserved cranial nerves, tongue fasciculations, weak cry, poor feeding
- These infants never attain the ability to sit.
- Paradoxical breathing (retraction of chest wall on inspiration) with progression to respiratory failure. Pts generally die in the 1st year of life
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- SMA Type 2 (intermediate or ____ infantile SMA)
- Infants appear healthy at birth and achieve initial normal milestones, but these are lost by 2yo.
- Infants attain ____
- A fine tremor (minipolymyoclonus)
- SMA Type 2 (intermediate or chronic infantile SMA)
- Infants appear healthy at birth and achieve initial normal milestones, but these are lost by 2yo.
- Infants attain the ability to sit
- A fine tremor (minipolymyoclonus)
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- SMA Type 3 (Kugelberg-Welander disease, or juvenile SMA)
| - Presents between 2-17yo
- SMA Type 3 (Kugelberg-Welander disease, or juvenile SMA)
| - Presents between 2-17yo
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Duchenne Muscular Dystrophy (DMD)
- ______Inheritance?
- Path: Deletion of ____ gene on chromosome Xp21, resulting in absence or deficient dystrophin protein.
- Pt:
- Presents in boys in early childhood (between 3-5 yo) with hypotonia and hip girdle weakness seen by abnormal gait (frequent falling, waddling gait, and toe walking).
- Look for on exam: Child with _____ and ___ sign- on hands and knees
- Generally lose ability to walk by 12yo/ Eventually become wheelchair dependent by 13yo
- Respiratory muscle weakness corresponds to gross motor weakness.
- Dilated cardiomyopathy
- Scoliosis
- Dx:
- Serum CK >____ U/L
- Confirm diagnosis by ____.
- Muscle biopsy is typically only used to confirm the diagnosis in patients whose genetic testing is negative.
- Management:
- Largely supportive
- Long-term care is an issue, and respiratory failure is a common cause of death
- There is evidence to support the use of glucocorticoids (prednisone or deflazacort) to delay wheelchair use.
- In 2016, FDA approved the use of eteplirsen, an antisense oligonucleotide, in patients with DMD who have certain mutations.
Duchenne Muscular Dystrophy (DMD)
- X-linked recessive disorder
- Path: Deletion of dystrophin gene on chromosome Xp21, resulting in absence or deficient dystrophin protein.
- Pt:
- Presents in boys in early childhood (between 3-5 yo) with hypotonia and hip girdle weakness seen by abnormal gait (frequent falling, waddling gait, and toe walking).
- Look for on exam: Child with calf muscle pseudohypertrophy and Gowers sign- on hands and knees
- Generally lose ability to walk by 12yo/ Eventually become wheelchair dependent by 13yo
- Respiratory muscle weakness corresponds to gross motor weakness.
- Dilated cardiomyopathy
- Scoliosis
- Dx:
- Serum CK >10,000 U/L
- Confirm diagnosis by identifying mutation of the DMD gene.
- Muscle biopsy is typically only used to confirm the diagnosis in patients whose genetic testing is negative.
- Management:
- Largely supportive
- Long-term care is an issue, and respiratory failure is a common cause of death
- There is evidence to support the use of glucocorticoids (prednisone or deflazacort) to delay wheelchair use.
- In 2016, FDA approved the use of eteplirsen, an antisense oligonucleotide, in patients with DMD who have certain mutations.
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Becker Muscular Dystrophy
- X-linked recessive disease
- Path: Partial dystrophin function.
- Resembles DMD but tends to follow a less severe course with a later onset of symptom.
- Pt:
- Later onset proximal skeletal muscle weakness. Most patients will maintain ambulatory capabilities into their 20s.
Becker Muscular Dystrophy
- X-linked recessive disease
- Path: Partial dystrophin function.
- Resembles DMD but tends to follow a less severe course with a later onset of symptom.
- Pt:
- Later onset proximal skeletal muscle weakness. Most patients will maintain ambulatory capabilities into their 20s.
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```
Myotonic Dystrophy (___ Repeat)
- ______Inheritance??
```
- Path: Mutation affects the _____ repeat in the 3’ untranslated region of the dystrophia myotonica kinase gene (DMPK) in chromosome 19.
- Normal: 5-35 repeats
- Affected: >50 mutations to thousands
- ____ is seen
- Parent of origin effect: The repeat is more likely to severely expand when passed from the mother
- Pt:
- Later presentations: Progressive facial and distal extremity weakness and myotonia; involvement of facial and jaw muscles (eg ptosis, atrophy of SCM)
- Facial features: Ptosis, drooping of the lower lip.
- Myotonia on ___ testing. These are pts who grip your hand to shake it but have difficulty letting go bc their muscles cannot relax out of the grip easily.
- Other involved organ systems
- _____
- Endocrine - testicular atrophy, diabetes mellitus
- Brain - intellectual disability
- Skin - premature balding
- ___
3 types:
1. Mild myotonic dystrophy
2. Classic myotonic dystrophy
3. Congenital myotonic dystrophy
- Profound hypotonia and respiratory insufficiency
```
Myotonic Dystrophy (CTG Repeat)
- AD
```
- Path: Mutation affects the CTG (cytosine-thymine-guanine) repeat in the 3’ untranslated region of the dystrophia myotonica kinase gene (DMPK) in chromosome 19.
- Normal: 5-35 repeats
- Affected: >50 mutations to thousands
- Anticipation is seen due to expansion with transmission (each generation is more affected than the one before)
- Parent of origin effect: The repeat is more likely to severely expand when passed from the mother
- Pt:
- Later presentations: Progressive facial and distal extremity weakness and myotonia; involvement of facial and jaw muscles (eg ptosis, atrophy of SCM)
- Facial features: Ptosis, drooping of the lower lip.
- Myotonia on grip testing. These are pts who grip your hand to shake it but have difficulty letting go bc their muscles cannot relax out of the grip easily.
- Other involved organ systems
- Eye - cataracts
- Endocrine - testicular atrophy, diabetes mellitus
- Brain - intellectual disability
- Skin - premature balding
- Cardiac - conduction abnormalities, arrhythmias
3 types:
1. Mild myotonic dystrophy
2. Classic myotonic dystrophy
3.Congenital myotonic dystrophy
- Profound hypotonia and respiratory insufficiency
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Myasthenia Gravis
- Autoimmune neuromuscular disease characterized by muscular weakness that increases with activity and improves after a period of rest.
- Path: Antibodies against acetylcholine nicotinic postsynaptic receptors
- 3 types of MG
- 1) Transient neonatal myasthenia gravis
- Occurs when the newborn is exposed to transplacental passage of maternal acetylcholine receptor antibodies (AChR-Ab). The child does not make these antibodies.
- Presents within 72 hours of birth with hypotonia, weak cry, difficulty feeding, facial weakness, and palpebral ptosis.
- Respiratory compromise
- Tx: Supportive. Symptoms resolve in 2-6 weeks after the maternal antibodies clear. Prognosis is excellent.
- 2) Congenital myasthenia gravis
- Those affected do not have circulating antibodies to the AChR
- 3) Juvenile myasthenia gravis
- Muscle weakness is exacerbated by repetitive muscle use (exercise, improves with rest).
- Ocular muscles are involved, resulting in ptosis and ophthalmoplegia, diplopia.
- Dx: Demonstrate AChR-Ab (antibody targeted at acetylcholine receptor)
- Also test for antibodies to the muscle-specific receptor tyrosine kinase (MuSK).
- EMG demonstrates a characteristic electro-decremental response pathognomonic for a postsynaptic neuromuscular junction disorder.
- Most patients who are AChR-Ab positive have _____ abnormalities, including hyperplasia or thymoma. Pt with autoimmune myasthenia gravis should be screened with ______.
- Tx:
- 1st line: Oral ____ medications
- Most patients require immunosuppression at some point - _______
- Thymectomy induces remission in as many as 50-60%.
- Plasmapheresis or IV immunoglobulin (IVIG) is beneficial for short-term amelioration of worsening symptoms.
Ocular myasthenia gravis
- The test most likely to establish the diagnosis of OMG is electromyography (EMG)
Myasthenia Gravis
- Autoimmune neuromuscular disease characterized by muscular weakness that increases with activity and improves after a period of rest.
- Path: Antibodies against acetylcholine nicotinic postsynaptic receptors
- 3 types of MG
- 1) Transient neonatal myasthenia gravis
- Occurs when the newborn is exposed to transplacental passage of maternal acetylcholine receptor antibodies (AChR-Ab). The child does not make these antibodies.
- Presents within 72 hours of birth with hypotonia, weak cry, difficulty feeding, facial weakness, and palpebral ptosis.
- Respiratory compromise
- Tx: Supportive. Symptoms resolve in 2-6 weeks after the maternal antibodies clear. Prognosis is excellent.
- 2) Congenital myasthenia gravis
- Those affected do not have circulating antibodies to the AChR
- 3) Juvenile myasthenia gravis
- Muscle weakness is exacerbated by repetitive muscle use (exercise, improves with rest).
- Ocular muscles are involved, resulting in ptosis and ophthalmoplegia, diplopia.
- Dx: Demonstrate AChR-Ab (antibody targeted at acetylcholine receptor)
- Also test for antibodies to the muscle-specific receptor tyrosine kinase (MuSK).
- EMG demonstrates a characteristic electro-decremental response pathognomonic for a postsynaptic neuromuscular junction disorder.
- Most patients who are AChR-Ab positive have thymic abnormalities, including hyperplasia or thymoma. Pt with autoimmune myasthenia gravis should be screened with chest CT.
- Tx:
- 1st line: Oral anticholinesterase medications (eg pyridostigmine, neostigmine)
- Most patients require immunosuppression at some point - Corticosteroids
- Thymectomy induces remission in as many as 50-60%.
- Plasmapheresis or IV immunoglobulin (IVIG) is beneficial for short-term amelioration of worsening symptoms.
Ocular myasthenia gravis
- The test most likely to establish the diagnosis of OMG is electromyography (EMG)
88
Guillain Barre Syndrome (Acute inflammatory demyelinating polyradiculomeuropathy)
- Etiology is unknown, but antecedent infections frequently occur, esp antecedent infections frequently occur, especially _____ (up to 30% of cases), Mycoplasma, or EBV
- Pt:
- Symmetrical ____ weakness
- Low back pain
- Distal dysesthesias
- _____reflexia
- Next step in evaluation: Negative inspiratory force measurement
- Supportive diagnostic testing:
- Lumbar puncture for CSF: Guillain-Barre: WBC 0-5, glucose 40-70, protein 45-1000
- Elevated _____ (more than 2x the upper limit, as high as 100-150mg/dL) with normal WBC <10 (______).
- Tx:
- Supportive care because the condition resolves over time; most recover within 3-4 weeks
- ____ 2g/kg total over 5 days. Corticosteroids not helpful.
Compare to transverse myelitis; distinguish bc patients with Guillain-Barre do NOT have ____
Guillain Barre Syndrome (Acute inflammatory demyelinating polyradiculomeuropathy)
- Etiology is unknown, but antecedent infections frequently occur, esp antecedent infections frequently occur, especially Campylobacter (up to 30% of cases), Mycoplasma, or EBV
- Pt:
- Symmetrical ascending weakness
- Low back pain
- Distal dysesthesias
- Areflexia / hyporeflexia
- Next step in evaluation: Negative inspiratory force measurement
- Supportive diagnostic testing:
- Lumbar puncture for CSF: Guillain-Barre: WBC 0-5, glucose 40-70, protein 45-1000
- Elevated protein (more than 2x the upper limit, as high as 100-150mg/dL) with normal WBC <10 (cytoalbuminologic dissociation).
- Tx:
- Supportive care because the condition resolves over time; most recover within 3-4 weeks
- IVIG 2g/kg total over 5 days. Corticosteroids not helpful.
Compare to transverse myelitis; distinguish bc patients with Guillain-Barre do NOT have a sensory level
89
Tick paralysis
- Tick paralysis is much more rapid when compared to other ascending paralysis diseases, such as GBS. Paralysis generally advances within _____
- A detailed skin exam should be performed
- Tx:
- If significant rapid progression of respiratory involvement, prepare to intubate the pt.
- Once the tick is removed, the weakness will rapidly resolve within hours.
Tick paralysis
- Tick paralysis is much more rapid when compared to other ascending paralysis diseases, such as GBS. Paralysis generally advances within hours-days
- A detailed skin exam should be performed
- Tx:
- If significant rapid progression of respiratory involvement, prepare to intubate the pt.
- Once the tick is removed, the weakness will rapidly resolve within hours.
90
Multiple sclerosis
- Pt:
- Vision abnormalities, oculomotor disturbance, incoordination, and sensory deficits.
- Watch for adolescents presenting with ______ (eg eye pain, vision changes)!
- CSF _____ bands are increased in 75% of patients, but this finding is nonspecific
- Dx: Establish occurrence of repeated episodes of demyelination either clinically or radiologically
- MRI is helpful in diagnosis and shows evidence of ______.
- Tx:
- Acute exacerbations: Short term-high-dose pulse IV _______.
Multiple sclerosis
- Pt:
- Vision abnormalities, oculomotor disturbance, incoordination, and sensory deficits.
- Watch for adolescents presenting with optic neuritis (eg eye pain, vision changes)!
- CSF IgG or oligoclonal bands are increased in 75% of patients, but this finding is nonspecific
- Dx: Establish occurrence of repeated episodes of demyelination either clinically or radiologically
- MRI is helpful in diagnosis and shows evidence of demyelination.
- Tx:
- Acute exacerbations: Short term-high-dose pulse IV steroids.
91
- Acute Cerebellar Ataxia of Childhood
- One of the most common causes of childhood ataxia, second only to drug ingestion
- Pt:
- Acute onset of ataxia in preschool to school-aged children 1-2 weeks after a viral infection.
- Hypotonia, tremor, ____ nystagmus
- Work-up
- CSF is normal except for the occasional increased _____ (pleocytosis with lymphocytic predominance)
- CT and MRI of the head are _____.
- Tx:_____
- Acute Cerebellar Ataxia of Childhood
- One of the most common causes of childhood ataxia, second only to drug ingestion
- Pt:
- Acute onset of ataxia in preschool to school-aged children 1-2 weeks after a viral infection.
- Hypotonia, tremor, horizontal nystagmus
- Work-up
- CSF is normal except for the occasional increased WBC to 30 lymphocytes/uL (pleocytosis with lymphocytic predominance)
- CT and MRI of the head are normal.
- Tx: Supportive. Prognosis is favorable.
92
Heat loss in a newborn
- Signs: Metabolic ______, hypoxemia, hypoglycemia, and increased renal excretion of solutes and water. ____ventilation compensates for metabolic acidosis.
Heat loss in a newborn
- Signs: Metabolic acidosis, hypoxemia, hypoglycemia, and increased renal excretion of solutes and water. Hyperventilation compensates for metabolic acidosis.
93
Heat cramps
- Muscle cramps occurring during exercise and are the mildest form of heat illness
- Tx with rest, hydration, salt replenishment, and stretching of the affected muscle
Heat cramps
- Muscle cramps occurring during exercise and are the mildest form of heat illness
- Tx with rest, hydration, salt replenishment, and stretching of the affected muscle
94
Heat exhaustion
- Body temp is between ___ and___ and there are no significant CNS symptoms.
- Moderately elevated core temp (<40C) and may experience cramping, fatigue, and tachycardia, but do not have mental status changes
- Tx consists of stopping the activity, moving to a cool place, removing any unnecessary clothing or equipment, drinking fluids, and taking an ice-water bath or using ice packs.
Heat exhaustion
- Body temp is between 102 and 104 (38.9-40) and there are no significant CNS symptoms.
- Moderately elevated core temp (<40C) and may experience cramping, fatigue, and tachycardia, but do not have mental status changes
- Tx consists of stopping the activity, moving to a cool place, removing any unnecessary clothing or equipment, drinking fluids, and taking an ice-water bath or using ice packs.
95
Heat stroke
- Mental status changes and a core temp >____.
- Heat stroke affects multiple organ systems, and can lead to organ failure and death if not treated promptly.
- This is a medical emergency, and the longer tx is delayed, the higher the risk of serious complications of death. Rapid cooling is the most effective tx to prevent organ damage and must be initiated immediately. When suspected, initiate rapid cooling ideally by immersing the affected individual in ice water until he or she becomes more responsive and core temp <39C.
Heat stroke
- Mental status changes and a core temp >>40C / 104.
- Heat stroke affects multiple organ systems, and can lead to organ failure and death if not treated promptly.
- This is a medical emergency, and the longer tx is delayed, the higher the risk of serious complications of death. Rapid cooling is the most effective tx to prevent organ damage and must be initiated immediately. When suspected, initiate rapid cooling ideally by immersing the affected individual in ice water until he or she becomes more responsive and core temp <39C.
96
Landau-Kleffner Syndrome (acquired epileptiform aphasia)
- Epilepsy syndrome of unknown etiology
- Epileptic syndrome characterized by language regression as early as 3 yo; there are often autistic features.
- EEG shows electrical status epilepticus during sleep
- Frequent epileptiform discharges in the parieto-occipital regions, activated by sleep
- Should be considered in child 3-7yo when there is either language regression or consideration for a diagnosis of autism.
- Tx: Speech therapy in conjunction with antiepileptic medications, corticosteroids, or epilepsy surgery
Landau-Kleffner Syndrome (acquired epileptiform aphasia)
- Epilepsy syndrome of unknown etiology
- Epileptic syndrome characterized by language regression as early as 3 yo; there are often autistic features.
- EEG shows electrical status epilepticus during sleep
- Frequent epileptiform discharges in the parieto-occipital regions, activated by sleep
- Should be considered in child 3-7yo when there is either language regression or consideration for a diagnosis of autism.
- Tx: Speech therapy in conjunction with antiepileptic medications, corticosteroids, or epilepsy surgery
97
Ptosis
- Drooping of the upper eyelid that usually results from a congenital or acquired abnormality of the muscles or nerves that elevate the eyelid.
- The facial or 7th CN innervates the circumferential orbicularis oculi muscle to close the upper and lower eyelids, while the oculomotor or 3rd CN innervates the levator palpebrae superioris to elevate the upper eyelid.
- Causes:
- Congenital ptosis, Horner syndrome, 3rd nerve palsy, neuromuscular junction disorders (Myasthenia Gravis and botulism), mitochondrial myopathy, mechanical causes
- Congenital orbital fibrosis is an AD condition, resulting in fibrosis of the extraocular muscles and ptosis. However, it is far more rare, and with lymphadenopathy, neuroblastoma is more likely.
Ptosis
- Drooping of the upper eyelid that usually results from a congenital or acquired abnormality of the muscles or nerves that elevate the eyelid.
- The facial or 7th CN innervates the circumferential orbicularis oculi muscle to close the upper and lower eyelids, while the oculomotor or 3rd CN innervates the levator palpebrae superioris to elevate the upper eyelid.
- Causes:
- Congenital ptosis, Horner syndrome, 3rd nerve palsy, neuromuscular junction disorders (Myasthenia Gravis and botulism), mitochondrial myopathy, mechanical causes
- Congenital orbital fibrosis is an AD condition, resulting in fibrosis of the extraocular muscles and ptosis. However, it is far more rare, and with lymphadenopathy, neuroblastoma is more likely.
98
Horner syndrome
- Causes: Congenital or acquired
- Congenital: Agenesis of the internal carotid artery
- Acquired:
- The most common neoplasm causing Horner syndrome is ____
- Evaluation: Young children with isolated Horner syndrome should undergo careful examination for cervical and abdominal masses, measurement of ______ levels, and radiologic imaging of the head, neck, and chest.
Horner syndrome
- Causes: Congenital or acquired
- Congenital: Agenesis of the internal carotid artery
- Acquired:
- The most common neoplasm causing Horner syndrome is neuroblastoma
- Evaluation: Young children with isolated Horner syndrome should undergo careful examination for cervical and abdominal masses, measurement of urinary HVA and VMA levels, and radiologic imaging of the head, neck, and chest.
99
Benign Paroxysmal Vertigo of Childhood (BPVC)
- Path: Cause is unknown, but children with BPVC often have a family hx of migraines, and some will develop migraines later in childhood.
- Pt:
- Brief, episodic vertigo and normal neurological examination findings in between episodes
- Episodes often occur in clusters and can be associated with nausea and vomiting
- Management: Watchful waiting is recommended.
Benign Paroxysmal Vertigo of Childhood (BPVC)
- Path: Cause is unknown, but children with BPVC often have a family hx of migraines, and some will develop migraines later in childhood.
- Pt:
- Brief, episodic vertigo and normal neurological examination findings in between episodes
- Episodes often occur in clusters and can be associated with nausea and vomiting
- Management: Watchful waiting is recommended.
100
Benign Paroxysmal Positional Vertigo (BPPV)
- Rare in young children and much more common in adults.
- Path: Calcium debris in the posterior semicircular canal
- Pt:
- Symptoms often appear upon sitting on the edge of the bed after waking from sleep
- Dx: Vertigo can be elicited by the Dix-Hallpike maneuver, whereby the pt’s neck is extended and turned to one side, and then the pt is quickly placed in a supine position.
- Tx: Particle repositioning maneuvers that can be done outpatient. Self-tx maneuvers have also been developed.
Benign Paroxysmal Positional Vertigo (BPPV)
- Rare in young children and much more common in adults.
- Path: Calcium debris in the posterior semicircular canal
- Pt:
- Symptoms often appear upon sitting on the edge of the bed after waking from sleep
- Dx: Vertigo can be elicited by the Dix-Hallpike maneuver, whereby the pt’s neck is extended and turned to one side, and then the pt is quickly placed in a supine position.
- Tx: Particle repositioning maneuvers that can be done outpatient. Self-tx maneuvers have also been developed.
101
Brain Death Evaluation
- Brain death testing:
- Neurologic examination: _____ reflexes must be absent, including pupillary, bulbar response (facial movement with temporomandibular joint pressure), cough, gag, suck, corneal, and oculovestibular. There must be flaccid tone and the absence of spontaneous or induced movement other than spinal reflexes.
- Next step is to perform apnea testing: Apnea testing is consistent with brain death if there is a complete lack of __________________. If testing reveals any evidence of neurologic function, the test should be stopped and determined to be inconsistent with brain death.
- Newborn 37 weeks gestation - ____ days of age: Can be declared brain dead if results of 2 exams _______ hours apart are both consistent with brain death
- Child ____ days - 18 years: Can be declared brain dead after 2 exams including physical exam and apnea test conducted ____ hours apart meet criteria.
- A patient determined to be brain dead is legally and clinically dead, and thus, his or her organs and tissues are eligible for donation.
Patient with brain death CAN HAVE SPONTANEOUS MOVEMENTS originating from peripheral nerves or the spinal cord. Possible reflexes include finger flexion, truncal movements (eg superficial and deep abdominal muscles), triple flexion response (flexion at the hip, knee, and ankle with foot stimulation), plantar reflexes (Babinski sign), limb movements to painful stimuli, and alternating flexion-extension of the toes.
Brain Death Evaluation
- Brain death testing:
- Neurologic examination: Brainstem reflexes must be absent, including pupillary, bulbar response (facial movement with temporomandibular joint pressure), cough, gag, suck, corneal, and oculovestibular. There must be flaccid tone and the absence of spontaneous or induced movement other than spinal reflexes.
- Next step is to perform apnea testing: Apnea testing is consistent with brain death if there is a complete lack of respiratory effort despite a partial pressure of arterial CO2 >60 and >20 above baseline. If testing reveals any evidence of neurologic function, the test should be stopped and determined to be inconsistent with brain death.
- Newborn 37 weeks gestation - 30 days of age: Can be declared brain dead if results of 2 exams 24 hours apart are both consistent with brian death
- Child 31 days - 18 years: Can be declared brain dead after 2 exams including physical exam and apnea test conducted 12 hours apart meet criteria.
- A patient determined to be brain dead is legally and clinically dead, and thus, his or her organs and tissues are eligible for donation.
Patient with brain death CAN HAVE SPONTANEOUS MOVEMENTS originating from peripheral nerves or the spinal cord. Possible reflexes include finger flexion, truncal movements (eg superficial and deep abdominal muscles), triple flexion response (flexion at the hip, knee, and ankle with foot stimulation), plantar reflexes (Babinski sign), limb movements to painful stimuli, and alternating flexion-extension of the toes.
102
CSF
- Normal: WBC 0-5, glucose 40-70, protein <40
- Aseptic/Viral meningitis (echovirus, coxsackievirus): WBC ___ (__ predom), glucose 4-70, protein <100
- Polio is similar
- Acute Cerebellar Ataxia of Childhood is similar (WBC to 30)
- Bacterial meningitis: WBC >___ (neutrophil pred), glucose ___
- Neutrophil predominance, elevated protein level, low CSF glucose to serum glucose ratio (<0.5)
- Low glucose: Failure of secretion of glucose into spinal fluid. Low glucose will last for weeks, which can be helpful if CSF glucose is still low on recheck
- Protein level is reflection of damaged tissue
- Tuberculosis meningitis: WBC ___(__ predom), glucose ____
- Guillain-Barre: WBC 0-5, glucose 40-70, protein ____
- Elevated protein in CSF in MELAS
CSF
- Normal: WBC 0-5, glucose 40-70, protein <40
- Aseptic/Viral meningitis (echovirus, coxsackievirus): WBC 100-1000 (lymphocyte predom), glucose 4-70, protein <100
- Polio is similar
- Acute Cerebellar Ataxia of Childhood is similar (WBC to 30)
- Bacterial meningitis: WBC >1000 (neutrophil pred), glucose <40, protein >250
- Neutrophil predominance, elevated protein level, low CSF glucose to serum glucose ratio (<0.5)
- Low glucose: Failure of secretion of glucose into spinal fluid. Low glucose will last for weeks, which can be helpful if CSF glucose is still low on recheck
- Protein level is reflection of damaged tissue
- Tuberculosis meningitis: WBC 5-1000 (lymphocyte predom), glucose <10 (lowest), protein >250
- Guillain-Barre: WBC 0-5, glucose 40-70, protein 45-1000
- Elevated protein in CSF in MELAS
