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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
□ 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.
§ 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
□ 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
§ Can last 4-72 hrs
§ 2 or more of:
-aggr. by routine phys. activity
-unilateral location
Scintilating scotoma
-mod/severe intensity
c. Migraines
c. Migraines
□ 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
§ 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
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
vit E
§ 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
□ Involuntary, sudden, repetitive movements or vocalizations.
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.
lowly writhing body movements prominent on one side of the body.
§ 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