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39 Cards in this Set

  • Front
  • Back
□ Affects 1:3000
□ Neurofirbromin is a tumor suppressor that is altered
□ S/Sx: Café au lait spots, freckling of axilla or inguinal areas, skin neurofibromas, and iris hamartomas (lisch nodules).
DX: 2 or more of…
□ >6 spots pre-puberty >5mm, >15mm in post
□ (Almost all have >5 spots by 20yo)
□ 2 or more tumors
□ freckling
□ Optic changes
□ 1st degree relative
§ Complications: <25% of pts will have seizures, optic glioma, deafness, constipation, short stature, early puberty, and HTN
b. Neurofibromatosis 1
§ (von Recklinghausen neurofibromatosis)
§ Affects 1:50,000 Schwannomin is a tumor suppressor that is affected
§ S/Sx: impaired auditory discrimination, hearing loss, tinnitus, unsteadiness, facial weakness
c. Neurofibromatosis 2
□ Impairment with tumor suppressors hamartin and tuberin
□ 1:150,000
□ 50% risk of passing to child if either parent is carrier
□ S/Sx: seizures, MR, intracranial calcification, tumors, angiofibroma, other skin lesions (shagreen patch, ash leaf), periungual fibromas.
Ash Leaf
Shagreen Patch-not as prominent in carriers
Periungual Fibromas-looks like periungual warts
□ Tx are based on what ssx the pt has
□ Most pts are not highly functioning, developmental delays, MR, Sz
d. Tuberous sclerosis
§ (Bourneville’s Dz)
□ S/Sx: port wine stain in trigeminal nerve distribution, ipsilateral ocular problems like glaucoma and bupthalmos (swelling/pushing out of the eyeball). Seizures in 1st year of life. Refer to opthlamology.
e. Sturge-Weber syndrome
§ (Encephalofacial Angiomatosis)
□ Unknown cause
□ S/Sx: head tremors, unsteady gait, speech problems, loss of DTR's/vibratory/positional sensation, telangiectasias on eyes, upper chest and head.
□ Susceptible to Ca or poor immune, endocrinopathies, most pts die by 30 y/o.
f. Ataxia-Telangiectasia
§ (Louis-Bar Syndrome)
□ Found on the face, neck, scalp, trunk or extremities
□ Risk of malignant degeneration leads to surgical excision
sometimes MR or Sz. If lesion is in mid-face->higher chance of sz development or other CNS infvolvement.
overgrowth of sebacious glands
g. Linear sebaceous nevus
§ (nevus sebaceous of Jadasshon)
§ Make sure to take serial measurements, follow development, serial neuro exams, cranial bruits, organomegaly
b. Macrocephaly
Caused by an imbalance between CSF production and resorption
□ Head is excessively large or grows at a rapid rate
S/Sx:
□ Older child: H/A, personality change, deterioration in school performance, papilledema, abducens nerve palsy. (more susceptable to ICP d/t it's location on the brain stem)
□ Infants: Scalp is thin and glistening, veins are distended, broad forehead, ant. fontanelle is large and tense, and sutures are wide, neurologic signs: sunsetting sign, strabismus, spacticity, hyperreflexia, vomiting, visual changes, irritabily, lethargy, h/a, anorexia
c. Hydrocephalus
§ Absence of brain hemispheres

§ S/Sx: deceptively nml at birth, then develop developmental arrest, decerebration, hyperotnia, hyperreflexia.
□ Do not live beyond 6-12 months.
hydrocephaly
§ May result from premature closure of the sutures (craniosynostosis: Tx <6mos!)
□ Positional plagiocephaly-frontal bosing-forward ear
□ Craniosynotosis-head grows out on one side. Ear doesn't move on affected side. Usually has bony ridges.
§ Usually reflect a small brain (see handout for causes)
□ Review in text.
§ S/Sx: mild to severe neuro impairment
f. Microcephaly
IV. Headaches
a. When to be concerned:
§ 1st or Worst
§ Recent onset, progressive
§ Awakens from sleep
§ Worse in A.M. or w/Valsalva
§ N/V
§ Seizures
§ Fever
§ Visual/Focal cerebral S/Sx (incl. loss of consciousness
§ Meningitis
SSX
□ Nuchal rigidity
□ Fever
□ Irritability
□ Intractable h/a unable to be controlled by meds
□ Lethargy
□ Inconsolable
□ High pitched cry
§ Older than 7 months, fever, febrile sz. --okay
§ Less than 6 months, febrile sz more rare --most likely meningitis
Mild/mod H/A, dull, chronic, rarely severe
Brain Tumors/SOL’s
alt. mental status, abnml neuro sx, anisocoria (unequal pupils), tachypnea
Incr. ICP:
mild/mod H/A, but clinical picture is severe. Meningitis: photophobia, papilledema
Infection:
§ Can last 4-72 hrs
§ 2 or more of:
-photo/phonophobia
-N/V
-aggr. by routine phys. activity
-unilateral location
-pulsating
Scintilating scotoma
-mod/severe intensity
c. Migraines
c. Migraines
TX
□ Feverfew, butterburr
□ Riboflavin
□ CoQ10
□ Magnesium
Infants/small children--excessive rate of head growth, frontal prominence, listlessness, irritability, poor feeding, vomiting, FTT, paresis of downward gaze, hyperactive reflexes, high-pitched cry
Older children--h/a, vomiting, visual disturbances, papilledema
ICP
§ Lesion of the 7th CN results in entire hemiplegia of that side of the face.
§ S/Sx: Inability to smile, frown, wrinkle forehead or close eye on affected side.
§ Causes: bell's palsy, tumors, trauma, infection
VI.
Peripheral facial weakness
§ Lesion is above the level of the facial n. nucleus (upper motor neuron lesion)
§ S/Sx: weakness of the lower part of the face on the opposite side.
Central facial weakness
§ Progressive degeneration of skmm.
§ 1:3500 male births
§ symmetrical involvement of pelvic and shoulder girdles
§ S/Sx: clumsy gait, difficulty in standing, accentuated lumbar lordosis, forward thrust of abdomen, laxity of shoulder and/or pelvic girdle mm, calve enlargement, winged scapula , calf enlargement by 5 or 6, dx based on mm bx
§ Wheel-chair bound by adolescents, die by 20
§ Gower Maneuver-walking hands up legs in order to upright self
Duchenne's Muscular dystrophy
§ "Hereditary motor-sensory neuropathy type 1"
§ Onset usually in the 2nd decade, but foot problems may show up in early childhood
§ S/Sx: insidious weakness and atrophy in the foot and leg mm, wasting of the hand mm
§ Hammer-toes, stork leg appearance (atrophy of calves), temp sensation, vibratory sensation issues, stocking-glove pattern, claw deformities in the hands.
Charcot-Marie-Tooth dz
§ Rare disorder that shows flaccid paresis of the arms resulting in flexion contractures.
§ Present at birth.
§ Lack of palmar creases; non-progressive
Congenital cervical spinal atrophy
§ Inherited disorder of skmm
§ S/Sx: mm stiffness is the only complaint, which gets better with activity. Clumsy and awkward gait may manifest.
§ Thenar contraction that lasts several seconds when hit w/reflex hammer
§ Cl channel problem; always have stiff muscles; will appear athletic w/hypertrophic mm.
Myotonia Congenita
§ Rag doll
§ Legs lie externally rotated and abducted, arms are either extended at the sides of the body or flexed by the head
§ Child shows extreme head lag
c. Hypotonic infant
b. Epilepsy Tx
§ Ketogenic diet
§ O-3’s PUFA’s
§ Melatonin
§ Vits/Mins/AA’s
B6
folate
thiamin
taurine
zinc
Mg
dimethyl/trimethylglucine
vit E
Se
§ 5-20 sec, characterized by sudden staring or arrest of activity with abrupt recovery. They are associated with prodromal activities such as eye fluttering, chewing, or staring upwards.
Absence seizures
§ Show up around 4-6 mos, and manifest as contractions of the neck, trunk, and extremities with the head thrown back or forward in association with limb movements.
Etiologies: metabolic disorders, cerebral malformations, congenital infxns, hypoxic injury, and neurocutaneous disorders.
MMC: tuberous sclerosis
West or lenox syndrome: glutamate decarboxylase, tx w/ B6
Infantile spasms
Tic
□ Involuntary, sudden, repetitive movements or vocalizations.
Tic
vocal and motor varieties lasting greater than a year
Tourette syndrome
□ "Chill" like movement
□ flexion of head, arms, legs, torso, adduction
□ Onset at infancy that resolves in childhood (benign)
Shuddering attacks
§ Exaggerated startle response to stimuli
§ These patients often have hypertonia in infancy along with feeding difficulties and apnea.
§ Elicited by tapping on the glabella, head, nose, or forehead
§ Glycine gated channels, does not affect cognition.
Startle Dz.
Head bobbing
§ Benign
§ Nystagmus and head tilt often associated
§ Neuro exam otherwise nml
§ Lasts a few years then resolves, refer anyway
random, brief, rapid, purposeless jerking of the limbs, face, tongue or trunk.
Chorea
lowly writhing body movements prominent on one side of the body.
Choreoathetosis
§ choreiform movements that manifest after a strep infxn. Resolves after a few months.
§ S/Sx: chorea, emotional lability, hypotonia, behavior change, school performance affected, anxiety
§ -Other causes: Wilson dz, Huntington dz, SLE, hyperthyroidism, other encephalopathies
Sydenham's chorea ("St. Vitus dance")
§ A. Spastic forms--75% of cases
□ Quadriplegia--90% are profoundly retarded.
□ Diplegia--Legs more than arms
□ Hemiplegia--One side
□ Paraplegia--Legs only
□ Monoplegia--One extremity
□ Triplegia--3 extremities
B. Ataxia--15% of cases
□ Can be in combination with other forms
C. Dyskinesia (Choreathetosis)--5% of cases.
□ Often assoc. w/rigidity or spastic quadriplegia or diplegia.
D. Hypotonic form--Fewer than 1% of cases
□ Persistent hypotonia with variable degrees of weakness.
Cerebral Palsy
□ Persistent hypotonia with variable degrees of weakness.
b. Other causes: intrauterine infxn, bleeding, toxins, congen. Malformations, kernicterus, neonatal hypoglycemia, acidosis, and some genetic syndromes.
§ High incidence among SGA babies
§ Intrauterine hypoxia is a frequent cause.
§ Seizures afflict about 25-50% (mostly in severe cases) & MR
§ Sensory and speech deficits found in varying degrees
Cerebral Palsy
* S/Sx: mm hypertonicity, DTR's hyperreactive, early infants may appear "floppy". -Ataxia may be difficult to delineate d/t spasticity.
* -Microcephaly may be present in 25% of spastic quad/diplegics
* DDX: progressive deterioration in the 1st 3 mos denotes a metabolic d/o or CNS degenerative d/o.
* Decreased cranial growth on the ipsilateral side
Cerebral Palsy