PEDS NEURO 3 - Hydrocephalus, SMA, GBS, DMD, Neurofibromatosis, Febrile Seizure Flashcards
What condition is this?
Slowly evolving accumulation of CSF over weeks to months
Hydrocephalus
Etiology of Hydrocephalus
Congenital (genetic abnormalities or developmental disorders)
or
Acquired (stroke, infection, tumor, trauma/bleeding)
The following are sx of which condition?
Sx related to ventricular distention and increased ICP due to obstruction of CSF flow
HA, vomiting, AMS, visual changes, ocular nerve palsies, and focal neurologic findings
Infants: nonspecific; vomiting, lethargy, irritability, bulging fontanelle, or poor feeding
Hydrocephalus
Dx of Hydrocephalus
Vitals: bradycardia, HTN, altered respiration (think brainstem)
Inc. head circumference
bulging anterior fontanelle
abnormal skull contour
CN dysfunction
papilledema
Hydrocephalus Tx
Temporary, symptomatic relief: loop diuretic, acetazolamide
Surgical intervention: remove obstructive lesion, VP shunt
What condition is this?
Progressive degeneration of the anterior horn cells –> progressive weakness of lower motor neurons
genetic (autosomal recessive)
Spinal Muscular Atrophy
Presents with progressive proximal weakness , decreased spontaneous mvmt, “floppiness”
Begins between 6 mos - 6 years (usually infancy); rate of progression varies
Loss of head control, loss of leg movement
Normal mental, social and language skills. Sensation is preserved.
Decreased facial expression and drooling
Clinical Px of which condition?
Spinal Muscular Atrophy
Dx of spinal muscular atrophy (3)
EMG, muscle bx, DNA testing
Mgmt/Tx of spinal muscular atrophy
- Sx therapy to improve flexibility,
- prevent infections,
- maintain social, language and intellecual stimulation
Antenatal: Before 6 mo
Never sits independently
Floppy child, no control of head movements, normal facial expression, swallowing difficulty, paradoxal breathing, fasiculation of the tongue.
Survival: <6mo
Death from respiratory insufficiency
Which condition is this?
SMA1 Werdnig-Hoffmann disease
(Spinal Muscular Atrophy)
Onset at 7-18 mo old
sits independently, never walks independently
scoliosis, joint contractures, postural tremors of the hands, fasiculations of limb muscles.
Life expectancy: death occurs < age 30-40 from respiratory insufficiency
Which condition is this?
SMA2 Intermediate type
(Spinal Muscular Atrophy)
Onset after 18mo-30yr
Walks independently
some pts become wheelchair-dependent in childhood
scoliosis, joint contractures, postural tremors of the hands, fasciculations of limb muscles.
Life expectancy: Normal
Which condition is this?
SMA3 Kugelberg Welander Disease
(Spinal Muscular Atrophy)
Onset after 30 yrs
Normal motor milestones
Pts can become wheelchair-dependent
normal life expectancy
What condition is this?
SMA4 Adult-onset (very rare)
(Spinal Muscular Atrophy)
Acute immune-mediated polyneuropathy
Heterogenous syndrome
Which condition is this?
Guillain Barre Syndrome
Etiology of GBS
Post-infectious
Respiratory or GI infection
Campylobacter jejuni (majority), cytomegalovirus, Epstein-Barr virus, and Mycoplasma pneumoniae infections, MCV4/influenza vaccine
Hallmark findings of GBS
Ascending weakness (symmetric)
Many have sensory symptoms
Loss of DTRs early
May have autonomic nerve dysfunction
Children- refusal to walk and leg pain are most common presenting symptoms
Dx of GBS
LP: ++ CSF protein w/o increased WBC
Electromyography (EMG)
Prognosis of GBS
85% of children have excellent recovery
May require ventilator support
Death from autonomic dysfunction, respiratory failure, complications (3-4%): PNA, PE, cardiovascular collapse
Tx of GBS
IVIG: Combat invading organisms- lessen attack on NS
Plasmapheresis: Decrease severity and duration, removes Ab from circulation
Long term sequelae of GBS
May have residual paresthesia, fatigue, limb weakness
X-linked recessive- absence of dystrophin protein
Pathophysiology of what condition?
DMD
Calf hypertrophy and proximal leg/pelvic weakness
Waddling gait and inability to rise from ground easily
Gower’s sign
Proximal muscles affected first, then distal; lower first, then upper
Clinical Px of which condition?
DMD
Boys exhibit trait around age 3- rapidly worsens
Develop awkward gait & unable to run properly
Slower to develop motor milestones- walking/climbing stairs
May have mild cognitive development, global developmental delay
Which condition is this?
DMD
Dx of Duchenne Muscular Dystrophy (DMD)
(4 things)
Muscle biopsy: muscle fiber degeneration and regeneration with connective tissue
EMG
++Serum CK levels: p_eaks by age 2; 10 to 20 times the upper limit of normal_
Genetic testing available for prenatal dx
Tx of Duchenne Muscular Dystrophy (DMD)
(3)
Glucocorticoids: may prolong or extend independent ambulation by 2.5yrs if started between ages 4-8
Eteplirsen, deflazacort: new tx
Mgmt of Duchenne Muscular Dystrophy (DMD)
(2 things )
supportive
Close pulmonary & cardiac follow up should be maintained due to risk of cardio pulmonary failure in 2nd & 3rd decade of life
Genetic disorder in which nerve tissue tumors cause nerve/brain damage
Patho of which condition?
Neurofibromatosis
Which type of Neurofibromatosis is the following?
more common, autosomal dominant on chromosome ____.
peripheral type
More skin and brain abnormalities
Type 1 Neurofibromatosis
Chromosome 17
Which type of Neurofibromatosis is the following?
More severe, more spinal cord abnormalities
Incurable disease-multiple intracranial and spinal tumors
central type
Chromosome ___.
Type 2 Neurofibromatosis
Chromsome 22
CAFE SPOT Neurofibromatosis Type 1
Cafe-au-lait spots
Axillary, inguinal freckling
Fibroma
Eye: lisch nodules
Skeletal: bowing leg
Pedigree/Positive fam hx
Optic Tumor (glioma)
Clinical Px of which condition?
Café-au-lait spots: numerous flat, irregularly shaped, light brown macules greater than 0.5cm present at birth
Neurofibromas that form in late adolescence: Soft or firm pedunculated tumors that develop along a nerve
Greater incidence of CNS tumors: Astrocytoma, meningioma, schwannoma
cognitive impairment
From benign learning disability to MR; may also be associated with seizures, macrocephaly, neuropathy
Neurofibromatosis Type 1
Tx of Neurofibromatosis Type 1
Surgical excision of tumors
Genetic counseling & screening (risk to sibs is 50%)
Complications of Neurofibromatosis Type 1
Seizures, deafness, short stature, early puberty & HTN (25%)
Optic glioma ~15%
Clinical Px of which disease?
Dominantly inherited neoplasia syndrome- rare autosomal dominant disease
Manifests as bilateral vestibular schwannomas (VIII nerve tumors)
May appear in childhood w/ loss of hearing
Other tumors of the brain & spinal cord are common: Meningiomas, Ependymomas (brain or spinal cord)
Neurofibromatosis Type 2
T/F:
Vestibular schwannomas virtually never occur in NF type 1
Café-au-lait spots are NOT part of NF type 2
TRUE
Most common neurologic disorder of infants & young children
Peak incidence 12 – 18 months
AGE-DEPENDENT phenomenon: Only occur in children 6 mos – 5 years old!
Which condition is this?
Febrile Seizure
Generalized seizure <15 minutes & doesn’t recur during 24-hour period
High Fever: 104
Clinical Px of which condition?
Febrile Seizure
Etiology of Febrile Seizure
Not associated with specific neurologic cause (e.g. CSF infection or inflammation)
HHV-6, influenza
Dx of Febrile Seizure
Clinical dx: testing not necessary in well-appearing children
Tx of Febrile Seizure
IV benzos for Sz > 5 minutes
Buccal midazolam may also be used if no IV access
What are the 3 types of febrile seizures?
simple
complex
febrile status epilepticus
Prognosis of Duchenne Muscular Dystrophy
- Usually wheelchair bound by what age?
- Loss of UE movement by what age?
- Death due to PNA or CHF at what age?
- Average life span?
- Wheelchair: 12 yrs
- Loss of UE mvmnt: 16 yrs
- Death: early 20’s
- Avg lifespan: 25 yrs
