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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) |
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§ 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
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□ 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) |
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□ 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.
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e. Sturge-Weber syndrome
§ (Encephalofacial Angiomatosis) |
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□ 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) |
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□ 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) |
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§ Make sure to take serial measurements, follow development, serial neuro exams, cranial bruits, organomegaly
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b. Macrocephaly
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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
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§ 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
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§ 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
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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 |
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§ 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 |
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Mild/mod H/A, dull, chronic, rarely severe
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Brain Tumors/SOL’s
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alt. mental status, abnml neuro sx, anisocoria (unequal pupils), tachypnea
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Incr. ICP:
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mild/mod H/A, but clinical picture is severe. Meningitis: photophobia, papilledema
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Infection:
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§ 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
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c. Migraines
TX |
□ Feverfew, butterburr
□ Riboflavin □ CoQ10 □ Magnesium |
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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
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§ 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 |
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§ 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
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§ 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
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§ "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
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§ 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
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§ 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
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§ 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
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b. Epilepsy Tx
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§ Ketogenic diet
§ O-3’s PUFA’s § Melatonin § Vits/Mins/AA’s B6 folate thiamin taurine zinc Mg dimethyl/trimethylglucine vit E Se |
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§ 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.
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Absence seizures
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§ 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
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Tic
□ Involuntary, sudden, repetitive movements or vocalizations. |
Tic
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vocal and motor varieties lasting greater than a year
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Tourette syndrome
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□ "Chill" like movement
□ flexion of head, arms, legs, torso, adduction □ Onset at infancy that resolves in childhood (benign) |
Shuddering attacks
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§ 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.
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Head bobbing
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§ Benign
§ Nystagmus and head tilt often associated § Neuro exam otherwise nml § Lasts a few years then resolves, refer anyway |
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random, brief, rapid, purposeless jerking of the limbs, face, tongue or trunk.
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Chorea
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lowly writhing body movements prominent on one side of the body.
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Choreoathetosis
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§ 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")
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§ 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
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□ 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
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* 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
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